Amacr Variant Search Result - Rat Genome Database

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434 records found for search term Amacr

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405283487	CV3191398	single nucleotide variant	NM_014324.6(AMACR):c.-3G>A	AMACR-related disorder [RCV003921787]	likely benign	5	34008022	34008022	Human		name , trait , alternate_id
11595831	CV303542	single nucleotide variant	NM_014324.5(AMACR):c.-40G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000375336]	uncertain significance	5	34008059	34008059	Human	1	name , alternate_id
11585069	CV303545	single nucleotide variant	NM_014324.5(AMACR):c.-70G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000278509]\|not provided [RCV004695860]	uncertain significance	5	34008089	34008089	Human	1	name , alternate_id
12842484	CV368156	single nucleotide variant	NM_014324.6(AMACR):c.-22C>G	Alpha-methylacyl-CoA racemase deficiency [RCV001151195]\|not provided [RCV000676072]\|not specified [RCV000434500]	likely benign\|uncertain significance	5	34008041	34008041	Human	1	name , alternate_id
156152083	CV2265884	single nucleotide variant	NM_014324.6(AMACR):c.*774A>G	Inborn genetic diseases [RCV002826843]	uncertain significance	5	33988319	33988319	Human	1	name
11591795	CV297316	single nucleotide variant	NM_014324.6(AMACR):c.*753T>G	Alpha-methylacyl-CoA racemase deficiency [RCV000332627]\|not provided [RCV000429910]	benign\|likely benign	5	33988340	33988340	Human	1	name , alternate_id
11664387	CV297317	duplication	NM_014324.6(AMACR):c.*573dup	Alpha-methylacyl-CoA racemase deficiency [RCV000405284]	uncertain significance	5	33988519	33988520	Human	1	name , alternate_id
11666266	CV299316	single nucleotide variant	NM_014324.6(AMACR):c.*982C>T	Alpha-methylacyl-CoA racemase deficiency [RCV000329461]\|Oculocutaneous albinism [RCV000391906]\|not provided [RCV001565034]	likely benign	5	33988111	33988111	Human	2	name , alternate_id
11596374	CV299317	single nucleotide variant	NM_014324.6(AMACR):c.*976G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000381706]\|not provided [RCV004711006]	likely benign	5	33988117	33988117	Human	1	name , alternate_id
11666500	CV299318	single nucleotide variant	NM_014324.6(AMACR):c.*617G>T	Alpha-methylacyl-CoA racemase deficiency [RCV000350176]\|Congenital bile acid synthesis defect 4 [RCV001549021]\|Oculocutaneous albinism [RCV000403059]\|not provided [RCV001598662]	benign\|likely benign	5	33988476	33988476	Human	3	name , alternate_id
11585656	CV299328	single nucleotide variant	NM_014324.6(AMACR):c.*540T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000282413]	uncertain significance	5	33988553	33988553	Human	1	name , alternate_id
11592071	CV303540	single nucleotide variant	NM_014324.6(AMACR):c.*449T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000335132]	likely benign\|uncertain significance	5	33988644	33988644	Human	1	name , alternate_id
11665705	CV303815	single nucleotide variant	NM_014324.6(AMACR):c.*963C>T	Alpha-methylacyl-CoA racemase deficiency [RCV000289252]\|Oculocutaneous albinism [RCV000288882]\|not provided [RCV001672662]	benign\|likely benign	5	33988130	33988130	Human	2	name , alternate_id
11597028	CV303819	single nucleotide variant	NM_014324.6(AMACR):c.*714T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000389363]\|not provided [RCV001564917]	likely benign\|uncertain significance	5	33988379	33988379	Human	1	name , alternate_id
11665769	CV303828	single nucleotide variant	NM_014324.6(AMACR):c.*663G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000292807]\|Congenital bile acid synthesis defect 4 [RCV001549020]\|Oculocutaneous albinism [RCV000344126]\|not provided [RCV001618641]	benign\|likely benign	5	33988430	33988430	Human	3	name , alternate_id
11597512	CV303849	single nucleotide variant	NM_014324.6(AMACR):c.*233T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000394999]\|not provided [RCV004695859]	uncertain significance	5	33988860	33988860	Human	1	name , alternate_id
11665944	CV303850	single nucleotide variant	NM_014324.6(AMACR):c.*227T>G	Alpha-methylacyl-CoA racemase deficiency [RCV000304145]\|Oculocutaneous albinism [RCV000313680]\|not provided [RCV001662327]	benign\|likely benign	5	33988866	33988866	Human	2	name , alternate_id
28901145	CV894125	single nucleotide variant	NM_014324.6(AMACR):c.*805C>A	Alpha-methylacyl-CoA racemase deficiency [RCV001156552]	uncertain significance	5	33988288	33988288	Human	1	name , alternate_id
28891671	CV894126	single nucleotide variant	NM_014324.6(AMACR):c.*523C>T	Alpha-methylacyl-CoA racemase deficiency [RCV001152872]	uncertain significance	5	33988570	33988570	Human	1	name , alternate_id
28891675	CV894127	single nucleotide variant	NM_014324.6(AMACR):c.*439A>G	Alpha-methylacyl-CoA racemase deficiency [RCV001152873]	uncertain significance	5	33988654	33988654	Human	1	name , alternate_id
39456389	CV965487	single nucleotide variant	NM_014324.6(AMACR):c.*760C>T	Congenital bile acid synthesis defect 4 [RCV004799271]	uncertain significance	5	33988333	33988333	Human	1	name , alternate_id
151826933	CV1340985	single nucleotide variant	NM_014324.6(AMACR):c.553-3A>G	Alpha-methylacyl-CoA racemase deficiency [RCV001955299]	uncertain significance	5	33998830	33998830	Human	1	name , alternate_id
151890743	CV1349234	deletion	NM_014324.6(AMACR):c.740-2del	Alpha-methylacyl-CoA racemase deficiency [RCV001943125]	uncertain significance	5	33989504	33989504	Human	1	name , alternate_id
151856827	CV1401940	deletion	NM_014324.6(AMACR):c.740-5del	Alpha-methylacyl-CoA racemase deficiency [RCV002017282]	likely benign\|uncertain significance	5	33989507	33989507	Human	1	name , alternate_id
151769413	CV1411343	single nucleotide variant	NM_014324.6(AMACR):c.248-7T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002045097]	likely benign	5	34005906	34005906	Human	1	name , alternate_id
151805454	CV1440488	single nucleotide variant	NM_014324.6(AMACR):c.391+3A>G	Alpha-methylacyl-CoA racemase deficiency [RCV001918102]	uncertain significance	5	34005753	34005753	Human	1	name , alternate_id
152165957	CV1557177	single nucleotide variant	NM_014324.6(AMACR):c.247+7C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002181840]	likely benign	5	34007766	34007766	Human	1	name , alternate_id
152065132	CV1583356	single nucleotide variant	NM_014324.6(AMACR):c.248-4T>C	AMACR-related disorder [RCV003971028]\|Alpha-methylacyl-CoA racemase deficiency [RCV002110677]	likely benign	5	34005903	34005903	Human	2	name , trait , alternate_id
152145517	CV1658356	single nucleotide variant	NM_014324.6(AMACR):c.739+7G>T	Alpha-methylacyl-CoA racemase deficiency [RCV002219981]	likely benign	5	33998634	33998634	Human	1	name , alternate_id
156295325	CV1894169	single nucleotide variant	NM_014324.6(AMACR):c.391+4T>A	Alpha-methylacyl-CoA racemase deficiency [RCV003087668]	uncertain significance	5	34005752	34005752	Human	1	name , alternate_id
156072562	CV1959424	single nucleotide variant	NM_014324.6(AMACR):c.740-3C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002569648]	uncertain significance	5	33989505	33989505	Human	1	name , alternate_id
156128604	CV2005667	single nucleotide variant	NM_014324.6(AMACR):c.552+4A>T	Alpha-methylacyl-CoA racemase deficiency [RCV002663132]	uncertain significance	5	34004570	34004570	Human	1	name , alternate_id
156039926	CV2146722	single nucleotide variant	NM_014324.6(AMACR):c.552+3A>T	Alpha-methylacyl-CoA racemase deficiency [RCV003019018]	uncertain significance	5	34004571	34004571	Human	1	name , alternate_id
155991272	CV2149001	single nucleotide variant	NM_014324.6(AMACR):c.553-1G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002996580]	uncertain significance	5	33998828	33998828	Human	1	name , alternate_id
156036114	CV2150203	single nucleotide variant	NM_014324.6(AMACR):c.739+3A>C	Alpha-methylacyl-CoA racemase deficiency [RCV003018878]	uncertain significance	5	33998638	33998638	Human	1	name , alternate_id
11590615	CV297310	single nucleotide variant	NM_014324.6(AMACR):c.*2088A>T	Alpha-methylacyl-CoA racemase deficiency [RCV000320982]	uncertain significance	5	33987005	33987005	Human	1	name , alternate_id
11593102	CV297311	single nucleotide variant	NM_014324.6(AMACR):c.*1945A>G	Alpha-methylacyl-CoA racemase deficiency [RCV000345651]	likely benign	5	33987148	33987148	Human	1	name , alternate_id
11665542	CV297312	single nucleotide variant	NM_014324.6(AMACR):c.*1070C>T	Alpha-methylacyl-CoA racemase deficiency [RCV000272108]\|Oculocutaneous albinism [RCV000347567]\|not provided [RCV001618640]	benign\|likely benign	5	33988023	33988023	Human	2	name , alternate_id
11659126	CV299313	single nucleotide variant	NM_014324.6(AMACR):c.*1622T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000355206]	uncertain significance	5	33987471	33987471	Human	1	name , alternate_id
11646000	CV299315	single nucleotide variant	NM_014324.6(AMACR):c.*1181G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000268577]	uncertain significance	5	33987912	33987912	Human	1	name , alternate_id
405106293	CV3000528	single nucleotide variant	NM_014324.6(AMACR):c.740-8T>A	Alpha-methylacyl-CoA racemase deficiency [RCV003614569]	likely benign	5	33989510	33989510	Human	1	name , alternate_id
11596656	CV303522	single nucleotide variant	NM_014324.6(AMACR):c.*2044C>A	Alpha-methylacyl-CoA racemase deficiency [RCV000384956]	uncertain significance	5	33987049	33987049	Human	1	name , alternate_id
11650761	CV303527	single nucleotide variant	NM_014324.6(AMACR):c.*1853G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000294697]	uncertain significance	5	33987240	33987240	Human	1	name , alternate_id
11593733	CV303528	single nucleotide variant	NM_014324.6(AMACR):c.*1804G>T	Alpha-methylacyl-CoA racemase deficiency [RCV000351889]	likely benign	5	33987289	33987289	Human	1	name , alternate_id
11597686	CV303529	single nucleotide variant	NM_014324.6(AMACR):c.*1727G>T	Alpha-methylacyl-CoA racemase deficiency [RCV000396972]	benign\|likely benign	5	33987366	33987366	Human	1	name , alternate_id
11663840	CV303532	single nucleotide variant	NM_014324.6(AMACR):c.*1560G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000400084]	uncertain significance	5	33987533	33987533	Human	1	name , alternate_id
11587941	CV303535	single nucleotide variant	NM_014324.6(AMACR):c.*1367T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000299076]	uncertain significance	5	33987726	33987726	Human	1	name , alternate_id
11659723	CV303538	single nucleotide variant	NM_014324.6(AMACR):c.*1353G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000360840]	uncertain significance	5	33987740	33987740	Human	1	name , alternate_id
11584219	CV303541	single nucleotide variant	NM_014324.6(AMACR):c.740-5C>G	Alpha-methylacyl-CoA racemase deficiency [RCV000272295]	uncertain significance	5	33989507	33989507	Human	1	name , alternate_id
11648927	CV303765	single nucleotide variant	NM_014324.6(AMACR):c.*2093A>G	Alpha-methylacyl-CoA racemase deficiency [RCV000284683]	uncertain significance	5	33987000	33987000	Human	1	name , alternate_id
11665731	CV303767	single nucleotide variant	NM_014324.6(AMACR):c.*1961G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000290632]\|Oculocutaneous albinism [RCV000377863]	likely benign	5	33987132	33987132	Human	2	name , alternate_id
11597709	CV303778	single nucleotide variant	NM_014324.6(AMACR):c.*1942C>T	Alpha-methylacyl-CoA racemase deficiency [RCV000396969]	uncertain significance	5	33987151	33987151	Human	1	name , alternate_id
11589623	CV303790	single nucleotide variant	NM_014324.6(AMACR):c.*1643T>C	Alpha-methylacyl-CoA racemase deficiency [RCV000312201]	uncertain significance	5	33987450	33987450	Human	1	name , alternate_id
11654868	CV303807	single nucleotide variant	NM_014324.6(AMACR):c.*1178G>A	Alpha-methylacyl-CoA racemase deficiency [RCV000321395]	uncertain significance	5	33987915	33987915	Human	1	name , alternate_id
11665624	CV303809	single nucleotide variant	NM_014324.6(AMACR):c.*1144A>G	Alpha-methylacyl-CoA racemase deficiency [RCV000359526]\|Oculocutaneous albinism [RCV000283159]\|not provided [RCV004711005]	likely benign	5	33987949	33987949	Human	2	name , alternate_id
12845511	CV368443	single nucleotide variant	NM_014324.6(AMACR):c.553-4A>G	not specified [RCV000439941]	likely benign	5	33998831	33998831	Human		name
12839531	CV369853	single nucleotide variant	NM_014324.6(AMACR):c.247+8C>G	Alpha-methylacyl-CoA racemase deficiency [RCV001078870]\|not provided [RCV000727297]\|not specified [RCV000428987]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	34007765	34007765	Human	1	name , alternate_id
597898448	CV3770694	single nucleotide variant	NM_014324.6(AMACR):c.247+8C>T	Alpha-methylacyl-CoA racemase deficiency [RCV005111845]	likely benign	5	34007765	34007765	Human	1	name , alternate_id
597975990	CV3792751	single nucleotide variant	NM_014324.6(AMACR):c.553-5C>T	Alpha-methylacyl-CoA racemase deficiency [RCV005144887]	likely benign	5	33998832	33998832	Human	1	name , alternate_id
13515415	CV491998	single nucleotide variant	NM_014324.6(AMACR):c.553-8T>C	not provided [RCV000594249]	uncertain significance	5	33998835	33998835	Human		name
13836880	CV588163	single nucleotide variant	NM_014324.6(AMACR):c.247+9G>T	Alpha-methylacyl-CoA racemase deficiency [RCV001151192]\|not provided [RCV000733121]	conflicting interpretations of pathogenicity\|uncertain significance	5	34007764	34007764	Human	1	name , alternate_id
28891342	CV894114	single nucleotide variant	NM_014324.6(AMACR):c.*1985G>A	Alpha-methylacyl-CoA racemase deficiency [RCV001152755]	uncertain significance	5	33987108	33987108	Human	1	name , alternate_id
28891346	CV894115	single nucleotide variant	NM_014324.6(AMACR):c.*1931G>C	Alpha-methylacyl-CoA racemase deficiency [RCV001152756]	uncertain significance	5	33987162	33987162	Human	1	name , alternate_id
28891349	CV894116	single nucleotide variant	NM_014324.6(AMACR):c.*1928T>C	Alpha-methylacyl-CoA racemase deficiency [RCV001152757]	likely benign	5	33987165	33987165	Human	1	name , alternate_id
28891352	CV894117	single nucleotide variant	NM_014324.6(AMACR):c.*1875C>T	Alpha-methylacyl-CoA racemase deficiency [RCV001152758]	uncertain significance	5	33987218	33987218	Human	1	name , alternate_id
28891355	CV894118	single nucleotide variant	NM_014324.6(AMACR):c.*1862C>T	Alpha-methylacyl-CoA racemase deficiency [RCV001152759]	uncertain significance	5	33987231	33987231	Human	1	name , alternate_id
28894805	CV894119	single nucleotide variant	NM_014324.6(AMACR):c.*1852C>T	Alpha-methylacyl-CoA racemase deficiency [RCV001154033]	benign	5	33987241	33987241	Human	1	name , alternate_id
28894808	CV894120	single nucleotide variant	NM_014324.6(AMACR):c.*1764A>C	Alpha-methylacyl-CoA racemase deficiency [RCV001154034]	uncertain significance	5	33987329	33987329	Human	1	name , alternate_id
28897012	CV894121	single nucleotide variant	NM_014324.6(AMACR):c.*1366A>G	Alpha-methylacyl-CoA racemase deficiency [RCV001154875]	likely benign	5	33987727	33987727	Human	1	name , alternate_id
28897015	CV894122	single nucleotide variant	NM_014324.6(AMACR):c.*1203A>G	Alpha-methylacyl-CoA racemase deficiency [RCV001154876]	likely benign	5	33987890	33987890	Human	1	name , alternate_id
28897019	CV894123	single nucleotide variant	NM_014324.6(AMACR):c.*1110G>T	Alpha-methylacyl-CoA racemase deficiency [RCV001154877]	uncertain significance	5	33987983	33987983	Human	1	name , alternate_id
28901140	CV894124	single nucleotide variant	NM_014324.6(AMACR):c.*1032G>C	Alpha-methylacyl-CoA racemase deficiency [RCV001156551]	uncertain significance	5	33988061	33988061	Human	1	name , alternate_id
28901363	CV896091	single nucleotide variant	NM_014324.6(AMACR):c.553-5C>A	Alpha-methylacyl-CoA racemase deficiency [RCV001156653]	conflicting interpretations of pathogenicity\|uncertain significance	5	33998832	33998832	Human	1	name , alternate_id
150461695	CV1234812	single nucleotide variant	NM_014324.6(AMACR):c.392-52T>A	not provided [RCV001649394]	benign	5	34004786	34004786	Human		name
151232432	CV1316783	single nucleotide variant	NM_014324.6(AMACR):c.248-92G>C	not provided [RCV001786603]	likely benign	5	34005991	34005991	Human		name
151232437	CV1316785	single nucleotide variant	NM_014324.6(AMACR):c.391+51C>A	not provided [RCV001786605]	likely benign	5	34005705	34005705	Human		name
151662758	CV1333447	single nucleotide variant	NM_014324.6(AMACR):c.248-60A>G	not provided [RCV001837639]	likely benign	5	34005959	34005959	Human		name
152158952	CV1529153	single nucleotide variant	NM_014324.6(AMACR):c.739+15C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002159288]	likely benign	5	33998626	33998626	Human	1	name , alternate_id
152158829	CV1544283	single nucleotide variant	NM_014324.6(AMACR):c.392-16G>C	Alpha-methylacyl-CoA racemase deficiency [RCV002122833]	benign	5	34004750	34004750	Human	1	name , alternate_id
152133262	CV1547094	single nucleotide variant	NM_014324.6(AMACR):c.553-18T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002155816]	likely benign	5	33998845	33998845	Human	1	name , alternate_id
152046209	CV1548195	single nucleotide variant	NM_014324.6(AMACR):c.248-17G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002071620]	likely benign	5	34005916	34005916	Human	1	name , alternate_id
152147528	CV1558858	single nucleotide variant	NM_014324.6(AMACR):c.391+12A>T	Alpha-methylacyl-CoA racemase deficiency [RCV002157662]	likely benign	5	34005744	34005744	Human	1	name , alternate_id
152089791	CV1581655	single nucleotide variant	NM_014324.6(AMACR):c.740-17A>T	Alpha-methylacyl-CoA racemase deficiency [RCV002077551]	likely benign	5	33989519	33989519	Human	1	name , alternate_id
152034866	CV1584687	single nucleotide variant	NM_014324.6(AMACR):c.247+14C>G	Alpha-methylacyl-CoA racemase deficiency [RCV002125166]	likely benign	5	34007759	34007759	Human	1	name , alternate_id
152107160	CV1605238	single nucleotide variant	NM_014324.6(AMACR):c.553-13T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002196302]	likely benign	5	33998840	33998840	Human	1	name , alternate_id
152086619	CV1608392	single nucleotide variant	NM_014324.6(AMACR):c.740-16T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002212127]	likely benign	5	33989518	33989518	Human	1	name , alternate_id
152073704	CV1615495	single nucleotide variant	NM_014324.6(AMACR):c.248-18C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002091936]	benign	5	34005917	34005917	Human	1	name , alternate_id
152041976	CV1617973	single nucleotide variant	NM_014324.6(AMACR):c.739+18G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002206464]	likely benign	5	33998623	33998623	Human	1	name , alternate_id
152169166	CV1636929	single nucleotide variant	NM_014324.6(AMACR):c.553-14C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002182699]	likely benign	5	33998841	33998841	Human	1	name , alternate_id
152170731	CV1651274	single nucleotide variant	NM_014324.6(AMACR):c.247+13C>G	Alpha-methylacyl-CoA racemase deficiency [RCV002143212]	likely benign	5	34007760	34007760	Human	1	name , alternate_id
156327691	CV1880977	single nucleotide variant	NM_014324.6(AMACR):c.248-18C>G	Alpha-methylacyl-CoA racemase deficiency [RCV003063503]	likely benign	5	34005917	34005917	Human	1	name , alternate_id
156047597	CV1927177	single nucleotide variant	NM_014324.6(AMACR):c.739+17C>T	Alpha-methylacyl-CoA racemase deficiency [RCV002637819]	likely benign	5	33998624	33998624	Human	1	name , alternate_id
156158257	CV1928332	single nucleotide variant	NM_014324.6(AMACR):c.740-11T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002664146]	likely benign	5	33989513	33989513	Human	1	name , alternate_id
156225859	CV1962553	single nucleotide variant	NM_014324.6(AMACR):c.552+14G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002596626]	likely benign	5	34004560	34004560	Human	1	name , alternate_id
155908807	CV1979968	single nucleotide variant	NM_014324.6(AMACR):c.248-16T>A	Alpha-methylacyl-CoA racemase deficiency [RCV002613838]	likely benign	5	34005915	34005915	Human	1	name , alternate_id
156013687	CV1986146	single nucleotide variant	NM_014324.6(AMACR):c.247+11G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002636354]	likely benign	5	34007762	34007762	Human	1	name , alternate_id
156324294	CV2053980	single nucleotide variant	NM_014324.6(AMACR):c.552+12T>C	Alpha-methylacyl-CoA racemase deficiency [RCV002810290]	likely benign	5	34004562	34004562	Human	1	name , alternate_id
155919059	CV2073606	single nucleotide variant	NM_014324.6(AMACR):c.247+12C>A	Alpha-methylacyl-CoA racemase deficiency [RCV002838218]	likely benign	5	34007761	34007761	Human	1	name , alternate_id
156324001	CV2134368	deletion	NM_014324.6(AMACR):c.391+16del	Alpha-methylacyl-CoA racemase deficiency [RCV002963400]	benign	5	34005740	34005740	Human	1	name , alternate_id
405091802	CV2981862	single nucleotide variant	NM_014324.6(AMACR):c.552+11A>G	Alpha-methylacyl-CoA racemase deficiency [RCV003613790]	likely benign	5	34004563	34004563	Human	1	name , alternate_id
405090610	CV2984004	single nucleotide variant	NM_014324.6(AMACR):c.392-20A>G	Alpha-methylacyl-CoA racemase deficiency [RCV003613700]	likely benign	5	34004754	34004754	Human	1	name , alternate_id
405109071	CV3052211	single nucleotide variant	NM_014324.6(AMACR):c.552+10A>C	Alpha-methylacyl-CoA racemase deficiency [RCV003615196]	likely benign	5	34004564	34004564	Human	1	name , alternate_id
405117037	CV3115929	single nucleotide variant	NM_014324.6(AMACR):c.247+15C>G	Alpha-methylacyl-CoA racemase deficiency [RCV003814419]	likely benign	5	34007758	34007758	Human	1	name , alternate_id
405243216	CV3164635	single nucleotide variant	NM_014324.6(AMACR):c.552+16G>A	Alpha-methylacyl-CoA racemase deficiency [RCV003867716]	likely benign	5	34004558	34004558	Human	1	name , alternate_id
402464297	CV3177007	single nucleotide variant	NM_014324.6(AMACR):c.247+16G>C	Alpha-methylacyl-CoA racemase deficiency [RCV003872638]	likely benign	5	34007757	34007757	Human	1	name , alternate_id
12848168	CV369849	single nucleotide variant	NM_014324.6(AMACR):c.247+20G>A	Alpha-methylacyl-CoA racemase deficiency [RCV001512826]\|not provided [RCV000676069]\|not specified [RCV000444798]	benign	5	34007753	34007753	Human	1	name , alternate_id
597889373	CV3762730	single nucleotide variant	NM_014324.6(AMACR):c.739+13C>T	Alpha-methylacyl-CoA racemase deficiency [RCV005110503]	likely benign	5	33998628	33998628	Human	1	name , alternate_id
597865814	CV3792681	single nucleotide variant	NM_014324.6(AMACR):c.392-15T>C	Alpha-methylacyl-CoA racemase deficiency [RCV005147488]	likely benign	5	34004749	34004749	Human	1	name , alternate_id
597862350	CV3813886	single nucleotide variant	NM_014324.6(AMACR):c.247+18G>C	Alpha-methylacyl-CoA racemase deficiency [RCV005146955]	likely benign	5	34007755	34007755	Human	1	name , alternate_id
597860243	CV3817248	single nucleotide variant	NM_014324.6(AMACR):c.247+17C>G	Alpha-methylacyl-CoA racemase deficiency [RCV005146628]	likely benign	5	34007756	34007756	Human	1	name , alternate_id
597844223	CV3827426	single nucleotide variant	NM_014324.6(AMACR):c.739+20C>T	Alpha-methylacyl-CoA racemase deficiency [RCV005172697]	likely benign	5	33998621	33998621	Human	1	name , alternate_id
13541017	CV501179	single nucleotide variant	NM_014324.6(AMACR):c.739+16G>A	Alpha-methylacyl-CoA racemase deficiency [RCV002066888]\|not specified [RCV000615547]	likely benign	5	33998625	33998625	Human	1	name , alternate_id
150510640	CV1211805	single nucleotide variant	NM_014324.6(AMACR):c.391+299T>C	not provided [RCV001597701]	benign	5	34005457	34005457	Human		name
150483435	CV1223589	single nucleotide variant	NM_014324.6(AMACR):c.553-147C>T	not provided [RCV001617303]	benign	5	33998974	33998974	Human		name
150433705	CV1243768	single nucleotide variant	NM_014324.6(AMACR):c.739+242G>A	not provided [RCV001664974]	likely benign	5	33998399	33998399	Human		name
150485199	CV1250178	single nucleotide variant	NM_014324.6(AMACR):c.247+219C>T	not provided [RCV001673791]	benign	5	34007554	34007554	Human		name
150445341	CV1261182	single nucleotide variant	NM_014324.6(AMACR):c.247+169T>G	not provided [RCV001679856]	benign	5	34007604	34007604	Human		name
150441734	CV1265604	single nucleotide variant	NM_014324.6(AMACR):c.248-199C>T	not provided [RCV001679308]	benign	5	34006098	34006098	Human		name
150535713	CV1311997	microsatellite	NM_014324.6(AMACR):c.552+77AGA[2]	not provided [RCV001779808]	likely benign	5	34004489	34004491	Human		name
405289677	CV3213097	single nucleotide variant	NM_014324.6(AMACR):c.9G>T (p.Leu3=)	AMACR-related disorder [RCV003961911]	likely benign	5	34008011	34008011	Human		name , trait , alternate_id
156449434	CV1941369	single nucleotide variant	NM_014324.6(AMACR):c.21G>C (p.Ser7=)	Alpha-methylacyl-CoA racemase deficiency [RCV003121556]	likely benign	5	34007999	34007999	Human	1	name , alternate_id
405105808	CV2951754	single nucleotide variant	NM_014324.6(AMACR):c.21G>A (p.Ser7=)	Alpha-methylacyl-CoA racemase deficiency [RCV003614466]	likely benign	5	34007999	34007999	Human	1	name , alternate_id
28886575	CV894136	single nucleotide variant	NM_014324.6(AMACR):c.27G>A (p.Val9=)	Alpha-methylacyl-CoA racemase deficiency [RCV001151194]	conflicting interpretations of pathogenicity\|uncertain significance	5	34007993	34007993	Human	1	name , alternate_id
152054792	CV1581937	single nucleotide variant	NM_014324.6(AMACR):c.33G>A (p.Leu11=)	Alpha-methylacyl-CoA racemase deficiency [RCV002089574]	likely benign	5	34007987	34007987	Human	1	name , alternate_id
152153557	CV1592839	single nucleotide variant	NM_014324.6(AMACR):c.33G>C (p.Leu11=)	AMACR-related disorder [RCV003893160]\|Alpha-methylacyl-CoA racemase deficiency [RCV002202345]	likely benign	5	34007987	34007987	Human	2	name , trait , alternate_id
152061545	CV1597219	deletion	NM_014324.6(AMACR):c.392-34_392-17del	Alpha-methylacyl-CoA racemase deficiency [RCV002208711]	likely benign	5	34004751	34004768	Human	1	name , alternate_id
156184683	CV2152077	single nucleotide variant	NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV003005817]	uncertain significance	5	34008016	34008016	Human	1	name , alternate_id
155973775	CV2154667	single nucleotide variant	NM_014324.6(AMACR):c.30G>A (p.Glu10=)	Alpha-methylacyl-CoA racemase deficiency [RCV003033554]	likely benign	5	34007990	34007990	Human	1	name , alternate_id
402475287	CV2932363	single nucleotide variant	NM_014324.6(AMACR):c.72G>T (p.Leu24=)	Alpha-methylacyl-CoA racemase deficiency [RCV003505599]	likely benign	5	34007948	34007948	Human	1	name , alternate_id
11584586	CV297326	single nucleotide variant	NM_014324.6(AMACR):c.48G>A (p.Pro16=)	Alpha-methylacyl-CoA racemase deficiency [RCV000275066]	conflicting interpretations of pathogenicity\|uncertain significance	5	34007972	34007972	Human	1	name , alternate_id
405110034	CV3062983	single nucleotide variant	NM_014324.6(AMACR):c.39C>G (p.Gly13=)	Alpha-methylacyl-CoA racemase deficiency [RCV003615379]	likely benign	5	34007981	34007981	Human	1	name , alternate_id
597974193	CV3821144	microsatellite	NM_014324.6(AMACR):c.248-22_248-20del	Alpha-methylacyl-CoA racemase deficiency [RCV005168465]	likely benign	5	34005919	34005921	Human		name , alternate_id
597971715	CV3833157	single nucleotide variant	NM_014324.6(AMACR):c.36C>T (p.Ser12=)	Alpha-methylacyl-CoA racemase deficiency [RCV005167054]	likely benign	5	34007984	34007984	Human	1	name , alternate_id
597918356	CV3842439	single nucleotide variant	NM_014324.6(AMACR):c.42G>A (p.Leu14=)	Alpha-methylacyl-CoA racemase deficiency [RCV005183924]	likely benign	5	34007978	34007978	Human	1	name , alternate_id
616933747	CV4011710	single nucleotide variant	NM_014324.6(AMACR):c.45C>G (p.Ala15=)	not specified [RCV005408259]	likely benign	5	34007975	34007975	Human		name
13836914	CV588197	single nucleotide variant	NM_014324.6(AMACR):c.90T>G (p.Arg30=)	AMACR-related disorder [RCV003908050]\|Alpha-methylacyl-CoA racemase deficiency [RCV001487564]\|not provided [RCV000733166]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	34007930	34007930	Human	2	name , trait , alternate_id
13837520	CV588810	single nucleotide variant	NM_014324.6(AMACR):c.1A>T (p.Met1Leu)	not provided [RCV000733970]	uncertain significance	5	34008019	34008019	Human		name
8658946	CV133805	single nucleotide variant	NM_014324.6(AMACR):c.25G>A (p.Val9Met)	Alpha-methylacyl-CoA racemase deficiency [RCV000318434]\|Congenital bile acid synthesis defect 4 [RCV001549130]\|not provided [RCV000676071]\|not specified [RCV000116320]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	34007995	34007995	Human	2	name , alternate_id
151846216	CV1501746	single nucleotide variant	NM_014324.6(AMACR):c.13G>A (p.Gly5Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV002015945]	uncertain significance	5	34008007	34008007	Human	1	name , alternate_id
152112282	CV1604167	single nucleotide variant	NM_014324.6(AMACR):c.285G>A (p.Leu95=)	Alpha-methylacyl-CoA racemase deficiency [RCV002097015]	likely benign	5	34005862	34005862	Human	1	name , alternate_id
152025805	CV1627581	single nucleotide variant	NM_014324.6(AMACR):c.183G>A (p.Arg61=)	AMACR-related disorder [RCV004749865]\|Alpha-methylacyl-CoA racemase deficiency [RCV002104336]	likely benign	5	34007837	34007837	Human	2	name , trait , alternate_id
152117029	CV1645866	single nucleotide variant	NM_014324.6(AMACR):c.252C>T (p.Val84=)	Alpha-methylacyl-CoA racemase deficiency [RCV002175070]	likely benign	5	34005895	34005895	Human	1	name , alternate_id
152070289	CV1650758	single nucleotide variant	NM_014324.6(AMACR):c.177G>A (p.Gln59=)	Alpha-methylacyl-CoA racemase deficiency [RCV002147984]	likely benign	5	34007843	34007843	Human	1	name , alternate_id
156311994	CV1896301	single nucleotide variant	NM_014324.6(AMACR):c.126C>T (p.Asp42=)	Alpha-methylacyl-CoA racemase deficiency [RCV003088504]	likely benign	5	34007894	34007894	Human	1	name , alternate_id
156277081	CV1900301	single nucleotide variant	NM_014324.6(AMACR):c.226C>T (p.Leu76=)	Alpha-methylacyl-CoA racemase deficiency [RCV003086985]	likely benign	5	34007794	34007794	Human	1	name , alternate_id
156407608	CV1914256	single nucleotide variant	NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002606946]	uncertain significance	5	34008001	34008001	Human	1	name , alternate_id
156406653	CV1963711	single nucleotide variant	NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002585976]	uncertain significance	5	34008000	34008000	Human	1	name , alternate_id
156310232	CV2000039	single nucleotide variant	NM_014324.6(AMACR):c.219G>C (p.Ser73=)	Alpha-methylacyl-CoA racemase deficiency [RCV002671591]	likely benign	5	34007801	34007801	Human	1	name , alternate_id
156187800	CV2020749	deletion	NM_014324.6(AMACR):c.43del (p.Ala15fs)	Alpha-methylacyl-CoA racemase deficiency [RCV002710986]	uncertain significance	5	34007977	34007977	Human	1	name , alternate_id
156026016	CV2145687	single nucleotide variant	NM_014324.6(AMACR):c.222T>C (p.Asp74=)	Alpha-methylacyl-CoA racemase deficiency [RCV003018460]	likely benign	5	34007798	34007798	Human	1	name , alternate_id
402474022	CV2857106	single nucleotide variant	NM_014324.6(AMACR):c.228G>A (p.Leu76=)	Alpha-methylacyl-CoA racemase deficiency [RCV003505360]	likely benign	5	34007792	34007792	Human	1	name , alternate_id
405089304	CV2968602	single nucleotide variant	NM_014324.6(AMACR):c.252C>A (p.Val84=)	Alpha-methylacyl-CoA racemase deficiency [RCV003613598]	likely benign	5	34005895	34005895	Human	1	name , alternate_id
405106893	CV3005732	single nucleotide variant	NM_014324.6(AMACR):c.108G>T (p.Arg36=)	Alpha-methylacyl-CoA racemase deficiency [RCV003614699]	likely benign	5	34007912	34007912	Human	1	name , alternate_id
405259030	CV3194470	single nucleotide variant	NM_014324.6(AMACR):c.264C>A (p.Leu88=)	AMACR-related disorder [RCV003893867]\|Alpha-methylacyl-CoA racemase deficiency [RCV005101544]	likely benign	5	34005883	34005883	Human	2	name , trait , alternate_id
405294733	CV3215799	single nucleotide variant	NM_014324.6(AMACR):c.108G>A (p.Arg36=)	AMACR-related disorder [RCV003934643]	likely benign	5	34007912	34007912	Human		name , trait , alternate_id
597916518	CV3779382	single nucleotide variant	NM_014324.6(AMACR):c.180G>C (p.Pro60=)	Alpha-methylacyl-CoA racemase deficiency [RCV005129523]	likely benign	5	34007840	34007840	Human	1	name , alternate_id
597939858	CV3788644	single nucleotide variant	NM_014324.6(AMACR):c.264C>G (p.Leu88=)	Alpha-methylacyl-CoA racemase deficiency [RCV005133319]	likely benign	5	34005883	34005883	Human	1	name , alternate_id
597940828	CV3789079	single nucleotide variant	NM_014324.6(AMACR):c.168C>T (p.Asp56=)	Alpha-methylacyl-CoA racemase deficiency [RCV005133542]	likely benign	5	34007852	34007852	Human	1	name , alternate_id
597887755	CV3804358	single nucleotide variant	NM_014324.6(AMACR):c.162G>C (p.Val54=)	Alpha-methylacyl-CoA racemase deficiency [RCV005150809]	likely benign	5	34007858	34007858	Human	1	name , alternate_id
13527503	CV500876	single nucleotide variant	NM_014324.6(AMACR):c.136T>C (p.Leu46=)	not specified [RCV000599781]	likely benign	5	34007884	34007884	Human		name
13787871	CV549594	single nucleotide variant	NM_014324.6(AMACR):c.204T>A (p.Arg68=)	AMACR-related disorder [RCV003892524]\|Alpha-methylacyl-CoA racemase deficiency [RCV002060838]\|not provided [RCV000676070]	likely benign	5	34007816	34007816	Human	2	name , trait , alternate_id
13837673	CV588963	single nucleotide variant	NM_014324.6(AMACR):c.243C>T (p.Arg81=)	Alpha-methylacyl-CoA racemase deficiency [RCV002535369]\|not provided [RCV000734161]	likely benign\|uncertain significance	5	34007777	34007777	Human	1	name , alternate_id
15177345	CV765104	single nucleotide variant	NM_014324.6(AMACR):c.270G>A (p.Leu90=)	not provided [RCV000929132]	likely benign	5	34005877	34005877	Human		name
28886563	CV894134	single nucleotide variant	NM_014324.6(AMACR):c.289C>A (p.Arg97=)	Alpha-methylacyl-CoA racemase deficiency [RCV001151191]	conflicting interpretations of pathogenicity\|uncertain significance	5	34005858	34005858	Human	1	name , alternate_id
151862311	CV1353446	single nucleotide variant	NM_014324.6(AMACR):c.561A>T (p.Gly187=)	Alpha-methylacyl-CoA racemase deficiency [RCV001924155]	likely benign\|uncertain significance	5	33998819	33998819	Human	1	name , alternate_id
151880173	CV1388412	single nucleotide variant	NM_014324.6(AMACR):c.31C>G (p.Leu11Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001982420]	uncertain significance	5	34007989	34007989	Human	1	name , alternate_id
151841464	CV1438224	single nucleotide variant	NM_014324.6(AMACR):c.86C>G (p.Ala29Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV001921583]	uncertain significance	5	34007934	34007934	Human	1	name , alternate_id
151863621	CV1460940	single nucleotide variant	NM_014324.6(AMACR):c.61G>T (p.Ala21Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV001905620]	uncertain significance	5	34007959	34007959	Human	1	name , alternate_id
151873890	CV1470292	single nucleotide variant	NM_014324.6(AMACR):c.89G>A (p.Arg30His)	Alpha-methylacyl-CoA racemase deficiency [RCV001885617]	uncertain significance	5	34007931	34007931	Human	1	name , alternate_id
151711837	CV1474269	single nucleotide variant	NM_014324.6(AMACR):c.94G>A (p.Val32Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV001908171]	uncertain significance	5	34007926	34007926	Human	1	name , alternate_id
152070050	CV1535142	single nucleotide variant	NM_014324.6(AMACR):c.975C>T (p.Pro325=)	Alpha-methylacyl-CoA racemase deficiency [RCV002111324]	likely benign	5	33989267	33989267	Human	1	name , alternate_id
152124733	CV1553937	single nucleotide variant	NM_014324.6(AMACR):c.459T>C (p.Phe153=)	AMACR-related disorder [RCV003913662]\|Alpha-methylacyl-CoA racemase deficiency [RCV002098655]	likely benign	5	34004667	34004667	Human	2	name , trait , alternate_id
152109522	CV1556637	single nucleotide variant	NM_014324.6(AMACR):c.723C>T (p.Tyr241=)	Alpha-methylacyl-CoA racemase deficiency [RCV002096654]\|Inborn genetic diseases [RCV004641922]	likely benign	5	33998657	33998657	Human	2	name , alternate_id
152154846	CV1563682	single nucleotide variant	NM_014324.6(AMACR):c.942G>A (p.Ser314=)	AMACR-related disorder [RCV003978550]\|Alpha-methylacyl-CoA racemase deficiency [RCV002202521]	likely benign	5	33989300	33989300	Human	2	name , trait , alternate_id
152044881	CV1588673	single nucleotide variant	NM_014324.6(AMACR):c.978C>G (p.Arg326=)	Alpha-methylacyl-CoA racemase deficiency [RCV002188718]	likely benign	5	33989264	33989264	Human	1	name , alternate_id
152170508	CV1592460	single nucleotide variant	NM_014324.6(AMACR):c.789T>C (p.Asp263=)	AMACR-related disorder [RCV004731242]\|Alpha-methylacyl-CoA racemase deficiency [RCV002161797]	likely benign	5	33989453	33989453	Human	2	name , trait , alternate_id
152033363	CV1603195	single nucleotide variant	NM_014324.6(AMACR):c.519C>A (p.Arg173=)	Alpha-methylacyl-CoA racemase deficiency [RCV002086778]	likely benign	5	34004607	34004607	Human	1	name , alternate_id
152056701	CV1649710	single nucleotide variant	NM_014324.6(AMACR):c.864C>T (p.Asp288=)	Alpha-methylacyl-CoA racemase deficiency [RCV002127868]	likely benign	5	33989378	33989378	Human	1	name , alternate_id
152144005	CV1651587	single nucleotide variant	NM_014324.6(AMACR):c.345C>T (p.Ser115=)	Alpha-methylacyl-CoA racemase deficiency [RCV002138539]	likely benign	5	34005802	34005802	Human	1	name , alternate_id
152100710	CV1664172	single nucleotide variant	NM_014324.6(AMACR):c.594T>G (p.Thr198=)	Alpha-methylacyl-CoA racemase deficiency [RCV002078953]	likely benign	5	33998786	33998786	Human	1	name , alternate_id
156407215	CV1875016	single nucleotide variant	NM_014324.6(AMACR):c.888G>A (p.Pro296=)	Alpha-methylacyl-CoA racemase deficiency [RCV003070774]	likely benign	5	33989354	33989354	Human	1	name , alternate_id
156022270	CV1911649	single nucleotide variant	NM_014324.6(AMACR):c.303G>A (p.Arg101=)	Alpha-methylacyl-CoA racemase deficiency [RCV002636765]	likely benign	5	34005844	34005844	Human	1	name , alternate_id
156018077	CV1918609	single nucleotide variant	NM_014324.6(AMACR):c.564A>G (p.Thr188=)	Alpha-methylacyl-CoA racemase deficiency [RCV002636571]	likely benign	5	33998816	33998816	Human	1	name , alternate_id
156410849	CV1929146	single nucleotide variant	NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV002608002]	uncertain significance	5	34007983	34007983	Human	1	name , alternate_id
156303672	CV1934606	single nucleotide variant	NM_014324.6(AMACR):c.939C>T (p.Gly313=)	Alpha-methylacyl-CoA racemase deficiency [RCV002647771]	likely benign	5	33989303	33989303	Human	1	name , alternate_id
156409654	CV1961890	single nucleotide variant	NM_014324.6(AMACR):c.471C>T (p.Gly157=)	Alpha-methylacyl-CoA racemase deficiency [RCV002586890]	likely benign	5	34004655	34004655	Human	1	name , alternate_id
156342247	CV1984995	single nucleotide variant	NM_014324.6(AMACR):c.627A>T (p.Gly209=)	Alpha-methylacyl-CoA racemase deficiency [RCV002631486]\|Inborn genetic diseases [RCV005343448]	likely benign	5	33998753	33998753	Human	2	name , alternate_id
156209188	CV1987010	single nucleotide variant	NM_014324.6(AMACR):c.633C>T (p.Asn211=)	Alpha-methylacyl-CoA racemase deficiency [RCV002626016]	likely benign	5	33998747	33998747	Human	1	name , alternate_id
156137415	CV2006447	single nucleotide variant	NM_014324.6(AMACR):c.456C>T (p.Asp152=)	Alpha-methylacyl-CoA racemase deficiency [RCV002663441]	likely benign	5	34004670	34004670	Human	1	name , alternate_id
156360744	CV2016628	single nucleotide variant	NM_014324.6(AMACR):c.843A>C (p.Ala281=)	Alpha-methylacyl-CoA racemase deficiency [RCV002720842]	likely benign	5	33989399	33989399	Human	1	name , alternate_id
155913354	CV2021828	single nucleotide variant	NM_014324.6(AMACR):c.984A>G (p.Ala328=)	AMACR-related disorder [RCV003898499]\|Alpha-methylacyl-CoA racemase deficiency [RCV002726962]	likely benign	5	33989258	33989258	Human	2	name , trait , alternate_id
156375512	CV2049461	single nucleotide variant	NM_014324.6(AMACR):c.38G>T (p.Gly13Val)	Alpha-methylacyl-CoA racemase deficiency [RCV002814657]	uncertain significance	5	34007982	34007982	Human	1	name , alternate_id
156271350	CV2055987	single nucleotide variant	NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV002806672]	uncertain significance	5	34007990	34007990	Human	1	name , alternate_id
156072625	CV2065834	single nucleotide variant	NM_014324.6(AMACR):c.585G>A (p.Leu195=)	Alpha-methylacyl-CoA racemase deficiency [RCV002847120]\|Inborn genetic diseases [RCV005351030]	likely benign	5	33998795	33998795	Human	2	name , alternate_id
156131066	CV2100926	single nucleotide variant	NM_014324.6(AMACR):c.462T>C (p.Ala154=)	Alpha-methylacyl-CoA racemase deficiency [RCV002889948]	likely benign	5	34004664	34004664	Human	1	name , alternate_id
155935171	CV2114086	deletion	NM_014324.6(AMACR):c.275del (p.Pro92fs)	Alpha-methylacyl-CoA racemase deficiency [RCV002904079]	uncertain significance	5	34005872	34005872	Human	1	name , alternate_id
402474628	CV2854852	single nucleotide variant	NM_014324.6(AMACR):c.732G>A (p.Leu244=)	Alpha-methylacyl-CoA racemase deficiency [RCV003505475]	likely benign	5	33998648	33998648	Human	1	name , alternate_id
402476231	CV2862565	single nucleotide variant	NM_014324.6(AMACR):c.657C>T (p.Phe219=)	Alpha-methylacyl-CoA racemase deficiency [RCV003505770]	likely benign	5	33998723	33998723	Human	1	name , alternate_id
405105636	CV2951188	single nucleotide variant	NM_014324.6(AMACR):c.774G>A (p.Gln258=)	Alpha-methylacyl-CoA racemase deficiency [RCV003614429]	likely benign	5	33989468	33989468	Human	1	name , alternate_id
405091368	CV2977656	single nucleotide variant	NM_014324.6(AMACR):c.727C>T (p.Leu243=)	Alpha-methylacyl-CoA racemase deficiency [RCV003613756]	likely benign	5	33998653	33998653	Human	1	name , alternate_id
405110199	CV3062936	single nucleotide variant	NM_014324.6(AMACR):c.669C>T (p.Tyr223=)	Alpha-methylacyl-CoA racemase deficiency [RCV003615376]	likely benign	5	33998711	33998711	Human	1	name , alternate_id
405180863	CV3119895	single nucleotide variant	NM_014324.6(AMACR):c.843A>G (p.Ala281=)	Alpha-methylacyl-CoA racemase deficiency [RCV003819988]\|not provided [RCV003885385]	likely benign	5	33989399	33989399	Human	1	name , alternate_id
405184881	CV3156063	single nucleotide variant	NM_014324.6(AMACR):c.637T>C (p.Leu213=)	Alpha-methylacyl-CoA racemase deficiency [RCV003859137]	likely benign	5	33998743	33998743	Human	1	name , alternate_id
405088341	CV3163597	single nucleotide variant	NM_014324.6(AMACR):c.519C>T (p.Arg173=)	Alpha-methylacyl-CoA racemase deficiency [RCV003852105]	likely benign	5	34004607	34004607	Human	1	name , alternate_id
405236883	CV3166565	single nucleotide variant	NM_014324.6(AMACR):c.663G>A (p.Thr221=)	Alpha-methylacyl-CoA racemase deficiency [RCV003854014]	likely benign	5	33998717	33998717	Human	1	name , alternate_id
402468244	CV3174289	single nucleotide variant	NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV003873572]	uncertain significance	5	34007977	34007977	Human	1	name , alternate_id
404982690	CV3184233	single nucleotide variant	NM_014324.6(AMACR):c.429G>C (p.Pro143=)	Alpha-methylacyl-CoA racemase deficiency [RCV003880725]	likely benign	5	34004697	34004697	Human	1	name , alternate_id
405294824	CV3209312	single nucleotide variant	NM_014324.6(AMACR):c.876C>A (p.Ala292=)	AMACR-related disorder [RCV003934777]	likely benign	5	33989366	33989366	Human		name , trait , alternate_id
405279037	CV3212772	single nucleotide variant	NM_014324.6(AMACR):c.993G>A (p.Leu331=)	AMACR-related disorder [RCV003954786]	likely benign	5	33989249	33989249	Human		name , trait , alternate_id
12838644	CV368442	single nucleotide variant	NM_014324.6(AMACR):c.966C>T (p.Asp322=)	Alpha-methylacyl-CoA racemase deficiency [RCV002526353]\|not provided [RCV005230353]\|not specified [RCV000427333]	likely benign	5	33989276	33989276	Human	1	name , alternate_id
12841363	CV369835	single nucleotide variant	NM_014324.6(AMACR):c.837G>A (p.Thr279=)	Alpha-methylacyl-CoA racemase deficiency [RCV001085687]\|not provided [RCV000676063]\|not specified [RCV000432436]	benign\|likely benign	5	33989405	33989405	Human	1	name , alternate_id
597847376	CV3746347	single nucleotide variant	NM_014324.6(AMACR):c.684G>A (p.Gly228=)	Alpha-methylacyl-CoA racemase deficiency [RCV005060165]	likely benign	5	33998696	33998696	Human	1	name , alternate_id
597955412	CV3757561	single nucleotide variant	NM_014324.6(AMACR):c.43G>C (p.Ala15Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV005080227]	uncertain significance	5	34007977	34007977	Human	1	name , alternate_id
597834910	CV3760862	single nucleotide variant	NM_014324.6(AMACR):c.765T>C (p.Leu255=)	Alpha-methylacyl-CoA racemase deficiency [RCV005085413]	likely benign	5	33989477	33989477	Human	1	name , alternate_id
597924864	CV3778049	single nucleotide variant	NM_014324.6(AMACR):c.582T>C (p.Phe194=)	Alpha-methylacyl-CoA racemase deficiency [RCV005130773]	likely benign	5	33998798	33998798	Human	1	name , alternate_id
597960050	CV3797939	single nucleotide variant	NM_014324.6(AMACR):c.732G>C (p.Leu244=)	Alpha-methylacyl-CoA racemase deficiency [RCV005138413]	likely benign	5	33998648	33998648	Human	1	name , alternate_id
597832445	CV3830972	single nucleotide variant	NM_014324.6(AMACR):c.567A>G (p.Ala189=)	Alpha-methylacyl-CoA racemase deficiency [RCV005170369]	likely benign	5	33998813	33998813	Human	1	name , alternate_id
597951632	CV3843359	single nucleotide variant	NM_014324.6(AMACR):c.879T>C (p.Cys293=)	Alpha-methylacyl-CoA racemase deficiency [RCV005190409]	likely benign	5	33989363	33989363	Human	1	name , alternate_id
597900405	CV3855015	single nucleotide variant	NM_014324.6(AMACR):c.516A>G (p.Thr172=)	Alpha-methylacyl-CoA racemase deficiency [RCV005201924]	likely benign	5	34004610	34004610	Human	1	name , alternate_id
13541961	CV501183	single nucleotide variant	NM_014324.6(AMACR):c.438G>A (p.Pro146=)	Alpha-methylacyl-CoA racemase deficiency [RCV001156655]\|not provided [RCV000899417]\|not specified [RCV000616876]	benign\|likely benign	5	34004688	34004688	Human	1	name , alternate_id
13835774	CV587037	single nucleotide variant	NM_014324.6(AMACR):c.429G>A (p.Pro143=)	AMACR-related disorder [RCV003892638]\|Alpha-methylacyl-CoA racemase deficiency [RCV002061001]\|not provided [RCV000731669]	likely benign\|uncertain significance	5	34004697	34004697	Human	2	name , trait , alternate_id
13837640	CV588931	single nucleotide variant	NM_014324.6(AMACR):c.714C>G (p.Pro238=)	AMACR-related disorder [RCV003955475]\|Alpha-methylacyl-CoA racemase deficiency [RCV002061019]\|not provided [RCV000734122]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	33998666	33998666	Human	2	name , trait , alternate_id
15141267	CV735069	single nucleotide variant	NM_014324.6(AMACR):c.681T>C (p.Asp227=)	Alpha-methylacyl-CoA racemase deficiency [RCV002068636]	likely benign	5	33998699	33998699	Human	1	name , alternate_id
21069071	CV795693	single nucleotide variant	NM_014324.6(AMACR):c.603G>A (p.Leu201=)	AMACR-related disorder [RCV003906140]\|not provided [RCV000998365]	likely benign\|uncertain significance	5	33998777	33998777	Human	1	name , trait , alternate_id
28901368	CV894133	single nucleotide variant	NM_014324.6(AMACR):c.366C>T (p.His122=)	Alpha-methylacyl-CoA racemase deficiency [RCV001156656]	conflicting interpretations of pathogenicity\|uncertain significance	5	34005781	34005781	Human	1	name , alternate_id
151811277	CV1345289	single nucleotide variant	NM_014324.6(AMACR):c.289C>T (p.Arg97Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV001878294]\|Inborn genetic diseases [RCV004988803]\|not provided [RCV003481144]\|not specified [RCV004770232]	uncertain significance	5	34005858	34005858	Human	2	name , alternate_id
151754497	CV1355817	single nucleotide variant	NM_014324.6(AMACR):c.283C>G (p.Leu95Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001986617]	uncertain significance	5	34005864	34005864	Human	1	name , alternate_id
151878656	CV1370137	single nucleotide variant	NM_014324.6(AMACR):c.253A>G (p.Met85Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001961359]	uncertain significance	5	34005894	34005894	Human	1	name , alternate_id
151766707	CV1393886	duplication	NM_014324.6(AMACR):c.976dup (p.Arg326fs)	Alpha-methylacyl-CoA racemase deficiency [RCV002008451]	uncertain significance	5	33989265	33989266	Human	1	name , alternate_id
151769523	CV1411378	single nucleotide variant	NM_014324.6(AMACR):c.106C>T (p.Arg36Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV002045106]\|Inborn genetic diseases [RCV004641877]	uncertain significance	5	34007914	34007914	Human	2	name , alternate_id
151886399	CV1414918	single nucleotide variant	NM_014324.6(AMACR):c.139G>T (p.Gly47Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV001887556]	uncertain significance	5	34007881	34007881	Human	1	name , alternate_id
151827062	CV1447316	single nucleotide variant	NM_014324.6(AMACR):c.240C>G (p.Phe80Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV001870163]	uncertain significance	5	34007780	34007780	Human	1	name , alternate_id
151850866	CV1448629	single nucleotide variant	NM_014324.6(AMACR):c.203G>T (p.Arg68Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV001957970]\|Inborn genetic diseases [RCV005343181]	uncertain significance	5	34007817	34007817	Human	2	name , alternate_id
151885630	CV1451801	single nucleotide variant	NM_014324.6(AMACR):c.184G>T (p.Gly62Ter)	Alpha-methylacyl-CoA racemase deficiency [RCV002000523]	uncertain significance	5	34007836	34007836	Human	1	name , alternate_id
151817482	CV1457042	single nucleotide variant	NM_014324.6(AMACR):c.254T>C (p.Met85Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV001900551]	uncertain significance	5	34005893	34005893	Human	1	name , alternate_id
151840525	CV1462975	single nucleotide variant	NM_014324.6(AMACR):c.193G>A (p.Val65Met)	Alpha-methylacyl-CoA racemase deficiency [RCV002031765]	uncertain significance	5	34007827	34007827	Human	1	name , alternate_id
151747865	CV1478718	single nucleotide variant	NM_014324.6(AMACR):c.265C>T (p.Gln89Ter)	Alpha-methylacyl-CoA racemase deficiency [RCV002023043]	uncertain significance	5	34005882	34005882	Human	1	name , alternate_id
151786999	CV1479001	single nucleotide variant	NM_014324.6(AMACR):c.235C>G (p.Pro79Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV002046715]	uncertain significance	5	34007785	34007785	Human	1	name , alternate_id
151832463	CV1480460	single nucleotide variant	NM_014324.6(AMACR):c.116C>T (p.Ser39Phe)	Alpha-methylacyl-CoA racemase deficiency [RCV001935194]	uncertain significance	5	34007904	34007904	Human	1	name , alternate_id
151839572	CV1492940	single nucleotide variant	NM_014324.6(AMACR):c.137T>G (p.Leu46Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV001881177]	uncertain significance	5	34007883	34007883	Human	1	name , alternate_id
152119094	CV1558363	single nucleotide variant	NM_014324.6(AMACR):c.1017T>C (p.Ser339=)	Alpha-methylacyl-CoA racemase deficiency [RCV002135476]	likely benign	5	33989225	33989225	Human	1	name , alternate_id
152086370	CV1573874	single nucleotide variant	NM_014324.6(AMACR):c.1032T>G (p.Pro344=)	Alpha-methylacyl-CoA racemase deficiency [RCV002149980]	likely benign	5	33989210	33989210	Human	1	name , alternate_id
155644079	CV1708403	single nucleotide variant	NM_014324.6(AMACR):c.149A>G (p.Lys50Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV002290392]\|not provided [RCV004809808]	uncertain significance	5	34007871	34007871	Human	1	name , alternate_id
156310215	CV1928333	insertion	NM_014324.6(AMACR):c.740-13_740-12insTGG	Alpha-methylacyl-CoA racemase deficiency [RCV002648117]	likely benign	5	33989514	33989515	Human	1	name , alternate_id
156449286	CV1944553	single nucleotide variant	NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV003121404]	uncertain significance	5	34007868	34007868	Human	1	name , alternate_id
156393494	CV1965163	single nucleotide variant	NM_014324.6(AMACR):c.187G>A (p.Ala63Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002584110]	uncertain significance	5	34007833	34007833	Human	1	name , alternate_id
156253257	CV1984998	single nucleotide variant	NM_014324.6(AMACR):c.179C>T (p.Pro60Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002645965]	uncertain significance	5	34007841	34007841	Human	1	name , alternate_id
155912617	CV2029578	single nucleotide variant	NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV002750250]	uncertain significance	5	34007901	34007901	Human	1	name , alternate_id
155989478	CV2053166	single nucleotide variant	NM_014324.6(AMACR):c.223G>C (p.Val75Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002819138]	uncertain significance	5	34007797	34007797	Human	1	name , alternate_id
8558754	CV20562	single nucleotide variant	NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	AMACR-related disorder [RCV003952344]\|Alpha-methylacyl-CoA racemase deficiency [RCV000005858]\|Congenital bile acid synthesis defect 4 [RCV000005859]\|Inborn genetic diseases [RCV004018567]\|not provided [RCV000727651]	pathogenic\|likely pathogenic	5	34007866	34007866	Human	3	name , trait , alternate_id
156278767	CV2074512	single nucleotide variant	NM_014324.6(AMACR):c.255G>A (p.Met85Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV002856306]	uncertain significance	5	34005892	34005892	Human	1	name , alternate_id
156232055	CV2156992	single nucleotide variant	NM_014324.6(AMACR):c.160G>C (p.Val54Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV003025681]	uncertain significance	5	34007860	34007860	Human	1	name , alternate_id
156076987	CV2160473	single nucleotide variant	NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)	Alpha-methylacyl-CoA racemase deficiency [RCV003020223]	uncertain significance	5	34007896	34007896	Human	1	name , alternate_id
156211891	CV2170914	single nucleotide variant	NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV003042363]	uncertain significance	5	34007877	34007877	Human	1	name , alternate_id
156219213	CV2173103	single nucleotide variant	NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV003025124]	uncertain significance	5	34007820	34007820	Human	1	name , alternate_id
402472314	CV2920504	single nucleotide variant	NM_014324.6(AMACR):c.1119T>C (p.Ile373=)	Alpha-methylacyl-CoA racemase deficiency [RCV003504870]	likely benign	5	33989123	33989123	Human	1	name , alternate_id
405089243	CV2972026	single nucleotide variant	NM_014324.6(AMACR):c.1026G>A (p.Arg342=)	Alpha-methylacyl-CoA racemase deficiency [RCV003613594]	likely benign	5	33989216	33989216	Human	1	name , alternate_id
405109080	CV3045363	single nucleotide variant	NM_014324.6(AMACR):c.1002C>T (p.Thr334=)	Alpha-methylacyl-CoA racemase deficiency [RCV003615198]	likely benign	5	33989240	33989240	Human	1	name , alternate_id
405235053	CV3168565	single nucleotide variant	NM_014324.6(AMACR):c.1140T>C (p.Ala380=)	Alpha-methylacyl-CoA racemase deficiency [RCV003866039]	likely benign	5	33989102	33989102	Human	1	name , alternate_id
405267254	CV3205465	single nucleotide variant	NM_014324.6(AMACR):c.290G>A (p.Arg97Gln)	AMACR-related disorder [RCV003947362]	uncertain significance	5	34005857	34005857	Human		name , trait , alternate_id
405652013	CV3272484	single nucleotide variant	NM_014324.6(AMACR):c.230T>A (p.Leu77Gln)	Inborn genetic diseases [RCV004413904]	uncertain significance	5	34007790	34007790	Human	1	name
408383436	CV3503948	single nucleotide variant	NM_014324.6(AMACR):c.118C>G (p.Arg40Gly)	AMACR-related disorder [RCV004730631]	uncertain significance	5	34007902	34007902	Human		name , trait , alternate_id
596947535	CV3549093	single nucleotide variant	NM_014324.6(AMACR):c.170T>G (p.Leu57Arg)	not provided [RCV004811417]	uncertain significance	5	34007850	34007850	Human		name
597686489	CV3695368	single nucleotide variant	NM_014324.6(AMACR):c.202C>T (p.Arg68Cys)	Inborn genetic diseases [RCV004984028]	uncertain significance	5	34007818	34007818	Human	1	name
597899857	CV3740986	single nucleotide variant	NM_014324.6(AMACR):c.1059A>T (p.Ile353=)	Alpha-methylacyl-CoA racemase deficiency [RCV005072149]	likely benign	5	33989183	33989183	Human	1	name , alternate_id
13515844	CV493042	single nucleotide variant	NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	AMACR-related disorder [RCV003935621]\|Alpha-methylacyl-CoA racemase deficiency [RCV001333042]\|not provided [RCV000594793]\|not specified [RCV005407783]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	34007911	34007911	Human	2	name , trait , alternate_id
13522646	CV493368	single nucleotide variant	NM_014324.6(AMACR):c.1011C>T (p.Ile337=)	AMACR-related disorder [RCV003900353]\|Alpha-methylacyl-CoA racemase deficiency [RCV002065176]\|not provided [RCV000591995]	likely benign\|uncertain significance	5	33989231	33989231	Human	2	name , trait , alternate_id
13517003	CV494219	single nucleotide variant	NM_014324.6(AMACR):c.290G>C (p.Arg97Pro)	AMACR-related disorder [RCV004748855]\|Alpha-methylacyl-CoA racemase deficiency [RCV001860224]\|Inborn genetic diseases [RCV004024872]\|not provided [RCV000596217]	uncertain significance	5	34005857	34005857	Human	3	name , trait , alternate_id
13834145	CV585387	single nucleotide variant	NM_014324.6(AMACR):c.1032T>A (p.Pro344=)	not provided [RCV000729586]	uncertain significance	5	33989210	33989210	Human		name
13835247	CV586504	single nucleotide variant	NM_014324.6(AMACR):c.1083C>T (p.Arg361=)	Alpha-methylacyl-CoA racemase deficiency [RCV001489261]\|not provided [RCV000730987]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	33989159	33989159	Human	1	name , alternate_id
13836240	CV587510	single nucleotide variant	NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV001855770]\|Congenital bile acid synthesis defect 4 [RCV002485912]\|Inborn genetic diseases [RCV004985105]\|not provided [RCV000732293]	uncertain significance	5	34007838	34007838	Human	3	name , alternate_id
14693761	CV620195	single nucleotide variant	NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter)	Alpha-methylacyl-CoA racemase deficiency [RCV000779474]	uncertain significance	5	34007897	34007897	Human		name , alternate_id
21071359	CV790551	deletion	NM_014324.6(AMACR):c.857del (p.Ile286fs)	Alpha-methylacyl-CoA racemase deficiency [RCV000987506]	uncertain significance	5	33989385	33989385	Human	1	name , alternate_id
21071360	CV790552	single nucleotide variant	NM_014324.6(AMACR):c.206T>C (p.Leu69Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV000987507]	uncertain significance	5	34007814	34007814	Human	1	name , alternate_id
28886570	CV894135	single nucleotide variant	NM_014324.6(AMACR):c.100G>C (p.Val34Leu)	AMACR-related disorder [RCV003963094]\|Alpha-methylacyl-CoA racemase deficiency [RCV001151193]\|Inborn genetic diseases [RCV004032792]	uncertain significance	5	34007920	34007920	Human	3	name , trait , alternate_id
150447856	CV1015189	single nucleotide variant	NM_014324.6(AMACR):c.541G>T (p.Asp181Tyr)	Spastic ataxia [RCV001647251]	uncertain significance	5	34004585	34004585	Human	2	name
127287935	CV1152166	single nucleotide variant	NM_014324.6(AMACR):c.950C>A (p.Thr317Asn)	not provided [RCV001508169]	uncertain significance	5	33989292	33989292	Human		name
150533546	CV1300738	single nucleotide variant	NM_014324.6(AMACR):c.518G>A (p.Arg173His)	Alpha-methylacyl-CoA racemase deficiency [RCV001868422]\|not provided [RCV001754598]	uncertain significance	5	34004608	34004608	Human	1	name , alternate_id
8658947	CV133806	single nucleotide variant	NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV000333635]\|Congenital bile acid synthesis defect 4 [RCV001549129]\|not provided [RCV000676068]\|not specified [RCV000116321]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	34004602	34004602	Human	4	name , alternate_id
8658947	CV133806	single nucleotide variant	NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV000333635]\|Congenital bile acid synthesis defect 4 [RCV001549129]\|not provided [RCV000676068]\|not specified [RCV000116321]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	34004602	34004603	Human	4	name , alternate_id
8658948	CV133807	single nucleotide variant	NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV000276161]\|Congenital bile acid synthesis defect 4 [RCV001549128]\|not provided [RCV000676067]\|not specified [RCV000116322]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	33998778	33998778	Human	2	name , alternate_id
8658949	CV133808	single nucleotide variant	NM_014324.6(AMACR):c.717G>T (p.Gln239His)	Alpha-methylacyl-CoA racemase deficiency [RCV000306332]\|not provided [RCV000676065]\|not specified [RCV000116323]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	33998663	33998663	Human	1	name , alternate_id
8658950	CV133809	single nucleotide variant	NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	Alpha-methylacyl-CoA racemase deficiency [RCV000302812]\|Congenital bile acid synthesis defect 4 [RCV001549127]\|Oculocutaneous albinism [RCV000368392]\|not provided [RCV000676064]\|not specified [RCV000116324]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	33989413	33989413	Human	3	name , alternate_id
151821071	CV1338390	single nucleotide variant	NM_014324.6(AMACR):c.572T>A (p.Leu191Ter)	Alpha-methylacyl-CoA racemase deficiency [RCV001900890]	uncertain significance	5	33998808	33998808	Human	1	name , alternate_id
151840008	CV1345780	single nucleotide variant	NM_014324.6(AMACR):c.941C>T (p.Ser314Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV001902724]	uncertain significance	5	33989301	33989301	Human	1	name , alternate_id
151815302	CV1349319	single nucleotide variant	NM_014324.6(AMACR):c.670A>G (p.Arg224Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV001919021]	uncertain significance	5	33998710	33998710	Human	1	name , alternate_id
151848485	CV1353151	single nucleotide variant	NM_014324.6(AMACR):c.806A>T (p.Lys269Met)	Alpha-methylacyl-CoA racemase deficiency [RCV001922453]\|Inborn genetic diseases [RCV002554275]	uncertain significance	5	33989436	33989436	Human	2	name , alternate_id
151890850	CV1353840	single nucleotide variant	NM_014324.6(AMACR):c.422A>C (p.Glu141Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV001963759]	uncertain significance	5	34004704	34004704	Human	1	name , alternate_id
151850161	CV1355367	single nucleotide variant	NM_014324.6(AMACR):c.849G>A (p.Trp283Ter)	Alpha-methylacyl-CoA racemase deficiency [RCV001957873]	uncertain significance	5	33989393	33989393	Human	1	name , alternate_id
151749675	CV1357206	single nucleotide variant	NM_014324.6(AMACR):c.713C>T (p.Pro238Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV001872126]\|not provided [RCV002261397]	uncertain significance	5	33998667	33998667	Human	1	name , alternate_id
151760018	CV1361814	single nucleotide variant	NM_014324.6(AMACR):c.887C>T (p.Pro296Leu)	AMACR-related disorder [RCV003416594]\|Alpha-methylacyl-CoA racemase deficiency [RCV001928399]\|Congenital bile acid synthesis defect 4 [RCV002484487]\|Inborn genetic diseases [RCV004641780]	uncertain significance	5	33989355	33989355	Human	3	name , trait , alternate_id
151756764	CV1365699	single nucleotide variant	NM_014324.6(AMACR):c.407T>C (p.Ile136Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV001872797]	uncertain significance	5	34004719	34004719	Human	1	name , alternate_id
151750787	CV1377973	single nucleotide variant	NM_014324.6(AMACR):c.976C>T (p.Arg326Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV002043264]\|Inborn genetic diseases [RCV002548182]	uncertain significance	5	33989266	33989266	Human	2	name , alternate_id
151831169	CV1379314	single nucleotide variant	NM_014324.6(AMACR):c.848G>C (p.Trp283Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV001935066]\|Inborn genetic diseases [RCV004041782]	uncertain significance	5	33989394	33989394	Human	2	name , alternate_id
151782625	CV1381577	single nucleotide variant	NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV001875506]	uncertain significance	5	33989298	33989298	Human	1	name , alternate_id
151819120	CV1385813	single nucleotide variant	NM_014324.6(AMACR):c.387G>C (p.Leu129Phe)	Alpha-methylacyl-CoA racemase deficiency [RCV002013195]	uncertain significance	5	34005760	34005760	Human	1	name , alternate_id
151821121	CV1391048	single nucleotide variant	NM_014324.6(AMACR):c.423G>C (p.Glu141Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV001992781]	uncertain significance	5	34004703	34004703	Human	1	name , alternate_id
151830394	CV1391663	single nucleotide variant	NM_014324.6(AMACR):c.421G>A (p.Glu141Lys)	Alpha-methylacyl-CoA racemase deficiency [RCV002050669]	uncertain significance	5	34004705	34004705	Human	1	name , alternate_id
151878721	CV1395428	single nucleotide variant	NM_014324.6(AMACR):c.635T>C (p.Met212Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV001999257]\|Inborn genetic diseases [RCV002642061]	uncertain significance	5	33998745	33998745	Human	2	name , alternate_id
151866291	CV1399445	single nucleotide variant	NM_014324.6(AMACR):c.868A>G (p.Thr290Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV001884574]	uncertain significance	5	33989374	33989374	Human	1	name , alternate_id
151743493	CV1404492	single nucleotide variant	NM_014324.6(AMACR):c.737A>G (p.Lys246Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV002022561]	uncertain significance	5	33998643	33998643	Human	1	name , alternate_id
151754118	CV1405513	single nucleotide variant	NM_014324.6(AMACR):c.698T>C (p.Val233Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV001927817]	uncertain significance	5	33998682	33998682	Human	1	name , alternate_id
151728754	CV1410042	single nucleotide variant	NM_014324.6(AMACR):c.749T>G (p.Leu250Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV001910649]	uncertain significance	5	33989493	33989493	Human	1	name , alternate_id
151730203	CV1412993	single nucleotide variant	NM_014324.6(AMACR):c.602T>G (p.Leu201Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV002004691]	uncertain significance	5	33998778	33998778	Human	1	name , alternate_id
151822076	CV1415633	single nucleotide variant	NM_014324.6(AMACR):c.934C>T (p.Arg312Trp)	AMACR-related disorder [RCV004749773]\|Alpha-methylacyl-CoA racemase deficiency [RCV001900983]	uncertain significance	5	33989308	33989308	Human	2	name , trait , alternate_id
151885817	CV1418223	single nucleotide variant	NM_014324.6(AMACR):c.367G>A (p.Asp123Asn)	Alpha-methylacyl-CoA racemase deficiency [RCV001887432]	uncertain significance	5	34005780	34005780	Human	1	name , alternate_id
151885999	CV1418432	single nucleotide variant	NM_014324.6(AMACR):c.364C>T (p.His122Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV001887470]	uncertain significance	5	34005783	34005783	Human	1	name , alternate_id
151722064	CV1421905	single nucleotide variant	NM_014324.6(AMACR):c.994T>G (p.Leu332Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001909887]	uncertain significance	5	33989248	33989248	Human	1	name , alternate_id
151859346	CV1422990	single nucleotide variant	NM_014324.6(AMACR):c.623G>A (p.Arg208Gln)	Alpha-methylacyl-CoA racemase deficiency [RCV001923801]	uncertain significance	5	33998757	33998757	Human	1	name , alternate_id
151723906	CV1425220	single nucleotide variant	NM_014324.6(AMACR):c.580T>C (p.Phe194Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV001891479]	uncertain significance	5	33998800	33998800	Human	1	name , alternate_id
151863565	CV1431410	single nucleotide variant	NM_014324.6(AMACR):c.547A>G (p.Asn183Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV001924323]	uncertain significance	5	34004579	34004579	Human	1	name , alternate_id
151795627	CV1434496	single nucleotide variant	NM_014324.6(AMACR):c.514A>G (p.Thr172Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV001866654]	uncertain significance	5	34004612	34004612	Human	1	name , alternate_id
151715618	CV1434859	single nucleotide variant	NM_014324.6(AMACR):c.512G>A (p.Arg171His)	Alpha-methylacyl-CoA racemase deficiency [RCV001890280]\|Inborn genetic diseases [RCV004641736]	uncertain significance	5	34004614	34004614	Human	2	name , alternate_id
151849021	CV1441976	single nucleotide variant	NM_014324.6(AMACR):c.793C>A (p.Pro265Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV001995716]	uncertain significance	5	33989449	33989449	Human	1	name , alternate_id
151803461	CV1442511	single nucleotide variant	NM_014324.6(AMACR):c.544G>A (p.Ala182Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002011780]	uncertain significance	5	34004582	34004582	Human	1	name , alternate_id
151772729	CV1444442	single nucleotide variant	NM_014324.6(AMACR):c.965A>T (p.Asp322Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001929686]\|Inborn genetic diseases [RCV004988941]	uncertain significance	5	33989277	33989277	Human	2	name , alternate_id
151889718	CV1446095	single nucleotide variant	NM_014324.6(AMACR):c.826G>C (p.Ala276Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV001963484]	uncertain significance	5	33989416	33989416	Human	1	name , alternate_id
151834609	CV1446856	single nucleotide variant	NM_014324.6(AMACR):c.865G>A (p.Gly289Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV002031149]\|Inborn genetic diseases [RCV002548982]	uncertain significance	5	33989377	33989377	Human	2	name , alternate_id
151824311	CV1456359	single nucleotide variant	NM_014324.6(AMACR):c.774G>C (p.Gln258His)	Alpha-methylacyl-CoA racemase deficiency [RCV002050106]	uncertain significance	5	33989468	33989468	Human	1	name , alternate_id
151801957	CV1458785	single nucleotide variant	NM_014324.6(AMACR):c.803A>T (p.Lys268Met)	Alpha-methylacyl-CoA racemase deficiency [RCV002028179]	uncertain significance	5	33989439	33989439	Human	1	name , alternate_id
151716149	CV1472749	single nucleotide variant	NM_014324.6(AMACR):c.728T>G (p.Leu243Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV002039367]	uncertain significance	5	33998652	33998652	Human	1	name , alternate_id
151878138	CV1483280	duplication	NM_014324.6(AMACR):c.1040dup (p.Glu348fs)	Alpha-methylacyl-CoA racemase deficiency [RCV001886114]	uncertain significance	5	33989201	33989202	Human	1	name , alternate_id
151876431	CV1484318	single nucleotide variant	NM_014324.6(AMACR):c.319C>A (p.Leu107Met)	Alpha-methylacyl-CoA racemase deficiency [RCV001981958]	uncertain significance	5	34005828	34005828	Human	1	name , alternate_id
151806956	CV1487103	single nucleotide variant	NM_014324.6(AMACR):c.317G>A (p.Arg106Lys)	Alpha-methylacyl-CoA racemase deficiency [RCV001918235]\|Inborn genetic diseases [RCV002555430]	uncertain significance	5	34005830	34005830	Human	2	name , alternate_id
151838713	CV1487446	single nucleotide variant	NM_014324.6(AMACR):c.775A>G (p.Met259Val)	Alpha-methylacyl-CoA racemase deficiency [RCV001935846]	uncertain significance	5	33989467	33989467	Human	1	name , alternate_id
151744050	CV1494740	single nucleotide variant	NM_014324.6(AMACR):c.884C>T (p.Thr295Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV001985532]	uncertain significance	5	33989358	33989358	Human	1	name , alternate_id
151708845	CV1495193	indel	NM_014324.6(AMACR):c.740-8_740-6delinsGGA	Alpha-methylacyl-CoA racemase deficiency [RCV002001536]	uncertain significance	5	33989508	33989510	Human		name , alternate_id
151728436	CV1495626	single nucleotide variant	NM_014324.6(AMACR):c.419G>A (p.Gly140Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV002040950]	uncertain significance	5	34004707	34004707	Human	1	name , alternate_id
151763284	CV1503166	single nucleotide variant	NM_014324.6(AMACR):c.820G>A (p.Val274Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV001914238]	uncertain significance	5	33989422	33989422	Human	1	name , alternate_id
151788006	CV1510131	single nucleotide variant	NM_014324.6(AMACR):c.818A>G (p.Asp273Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV001916531]	uncertain significance	5	33989424	33989424	Human	1	name , alternate_id
151888426	CV1512704	single nucleotide variant	NM_014324.6(AMACR):c.874G>A (p.Ala292Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV001887959]\|Inborn genetic diseases [RCV005350671]	uncertain significance	5	33989368	33989368	Human	2	name , alternate_id
151888235	CV1516975	single nucleotide variant	NM_014324.6(AMACR):c.370A>G (p.Ile124Val)	Alpha-methylacyl-CoA racemase deficiency [RCV002038360]	uncertain significance	5	34005777	34005777	Human	1	name , alternate_id
153303540	CV1686330	single nucleotide variant	NM_014324.6(AMACR):c.563C>T (p.Thr188Ile)	Inborn genetic diseases [RCV003164375]\|not provided [RCV002261763]	uncertain significance	5	33998817	33998817	Human	1	name
156383625	CV1870584	single nucleotide variant	NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV003067378]	uncertain significance	5	34004620	34004620	Human	1	name , alternate_id
156355920	CV1880323	single nucleotide variant	NM_014324.6(AMACR):c.394G>A (p.Val132Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV003065236]	uncertain significance	5	34004732	34004732	Human	1	name , alternate_id
155986695	CV1884060	single nucleotide variant	NM_014324.6(AMACR):c.913C>T (p.His305Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV003075918]	uncertain significance	5	33989329	33989329	Human	1	name , alternate_id
156063233	CV1888647	single nucleotide variant	NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV003079298]	uncertain significance	5	33989439	33989439	Human	1	name , alternate_id
156417233	CV1915850	single nucleotide variant	NM_014324.6(AMACR):c.538A>G (p.Ile180Val)	Alpha-methylacyl-CoA racemase deficiency [RCV002610611]\|Inborn genetic diseases [RCV004985212]	uncertain significance	5	34004588	34004588	Human	2	name , alternate_id
156354158	CV1933185	single nucleotide variant	NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV002651133]\|Inborn genetic diseases [RCV004636692]	uncertain significance	5	33998691	33998691	Human	2	name , alternate_id
156383501	CV1945991	single nucleotide variant	NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV003108218]\|Inborn genetic diseases [RCV002679205]\|not provided [RCV003434673]	uncertain significance	5	34004689	34004689	Human	2	name , alternate_id
156204983	CV1959222	single nucleotide variant	NM_014324.6(AMACR):c.517C>T (p.Arg173Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV002574923]\|not provided [RCV004694238]	uncertain significance	5	34004609	34004609	Human	1	name , alternate_id
156321145	CV1968633	single nucleotide variant	NM_014324.6(AMACR):c.967G>A (p.Val323Met)	Alpha-methylacyl-CoA racemase deficiency [RCV002630351]\|Inborn genetic diseases [RCV004065723]	likely benign\|uncertain significance	5	33989275	33989275	Human	2	name , alternate_id
156119236	CV1972975	single nucleotide variant	NM_014324.6(AMACR):c.914A>T (p.His305Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002593063]	uncertain significance	5	33989328	33989328	Human	1	name , alternate_id
156310904	CV1973348	single nucleotide variant	NM_014324.6(AMACR):c.755C>T (p.Ser252Phe)	Alpha-methylacyl-CoA racemase deficiency [RCV002578686]	uncertain significance	5	33989487	33989487	Human	1	name , alternate_id
156162260	CV1989727	single nucleotide variant	NM_014324.6(AMACR):c.323G>C (p.Ser108Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002642452]	uncertain significance	5	34005824	34005824	Human	1	name , alternate_id
156194301	CV1994814	single nucleotide variant	NM_014324.6(AMACR):c.352C>T (p.Arg118Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV002643411]	uncertain significance	5	34005795	34005795	Human	1	name , alternate_id
156116483	CV1995591	single nucleotide variant	NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002640143]\|Inborn genetic diseases [RCV003250561]	uncertain significance	5	33998748	33998748	Human	2	name , alternate_id
156221418	CV1995809	single nucleotide variant	NM_014324.6(AMACR):c.967G>T (p.Val323Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002667242]	uncertain significance	5	33989275	33989275	Human	1	name , alternate_id
156364772	CV2003483	single nucleotide variant	NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV002676482]\|not specified [RCV003331385]	uncertain significance	5	33998658	33998658	Human	1	name , alternate_id
156172947	CV2003907	single nucleotide variant	NM_014324.6(AMACR):c.563C>G (p.Thr188Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV002642775]	uncertain significance	5	33998817	33998817	Human	1	name , alternate_id
155974151	CV2021964	single nucleotide variant	NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002755027]	uncertain significance	5	33989297	33989297	Human	1	name , alternate_id
156220147	CV2024999	single nucleotide variant	NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)	Alpha-methylacyl-CoA racemase deficiency [RCV002712111]	uncertain significance	5	33989463	33989463	Human	1	name , alternate_id
156038456	CV2030131	single nucleotide variant	NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV002736089]	uncertain significance	5	33989396	33989396	Human	1	name , alternate_id
156208367	CV2032156	single nucleotide variant	NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)	Alpha-methylacyl-CoA racemase deficiency [RCV002711667]	uncertain significance	5	33989301	33989301	Human	1	name , alternate_id
8558755	CV20563	single nucleotide variant	NM_014324.6(AMACR):c.320T>C (p.Leu107Pro)	Congenital bile acid synthesis defect 4 [RCV000005860]	pathogenic	5	34005827	34005827	Human	1	name
156173543	CV2071865	single nucleotide variant	NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002851606]	uncertain significance	5	33998764	33998764	Human	1	name , alternate_id
10408464	CV207213	single nucleotide variant	NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)	AMACR-related disorder [RCV003927756]\|Alpha-methylacyl-CoA racemase deficiency [RCV000894738]\|Congenital bile acid synthesis defect 4 [RCV000765838]\|Mitochondrial complex I deficiency [RCV000490396]\|not specified [RCV000194266]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	33989398	33989398	Human	3	name , trait , alternate_id
156206374	CV2074035	single nucleotide variant	NM_014324.6(AMACR):c.496A>G (p.Met166Val)	Alpha-methylacyl-CoA racemase deficiency [RCV002829133]	uncertain significance	5	34004630	34004630	Human	1	name , alternate_id
156208212	CV2131422	single nucleotide variant	NM_014324.6(AMACR):c.476T>C (p.Met159Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV002985483]	uncertain significance	5	34004650	34004650	Human	1	name , alternate_id
155913951	CV2145113	single nucleotide variant	NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)	Alpha-methylacyl-CoA racemase deficiency [RCV002991527]	uncertain significance	5	33989281	33989281	Human	1	name , alternate_id
156202455	CV2150125	single nucleotide variant	NM_014324.6(AMACR):c.856A>G (p.Ile286Val)	Alpha-methylacyl-CoA racemase deficiency [RCV003006372]	uncertain significance	5	33989386	33989386	Human	1	name , alternate_id
156234060	CV2173225	single nucleotide variant	NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV003059416]	uncertain significance	5	34005804	34005804	Human	1	name , alternate_id
156183942	CV2178546	single nucleotide variant	NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV003057616]	uncertain significance	5	33998776	33998776	Human	1	name , alternate_id
156136888	CV2186436	single nucleotide variant	NM_014324.6(AMACR):c.566C>T (p.Ala189Val)	Alpha-methylacyl-CoA racemase deficiency [RCV003056033]	uncertain significance	5	33998814	33998814	Human	1	name , alternate_id
156347602	CV2191349	single nucleotide variant	NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)	Alpha-methylacyl-CoA racemase deficiency [RCV003048096]	uncertain significance	5	33989424	33989424	Human	1	name , alternate_id
11350776	CV236940	single nucleotide variant	NM_014324.6(AMACR):c.781A>T (p.Met261Leu)	Alpha-methylacyl-CoA racemase deficiency [RCV002516219]\|not provided [RCV000224390]	uncertain significance	5	33989461	33989461	Human	1	name , alternate_id
11350622	CV237097	single nucleotide variant	NM_014324.6(AMACR):c.782T>C (p.Met261Thr)	Alpha-methylacyl-CoA racemase deficiency [RCV000364524]\|Congenital bile acid synthesis defect 4 [RCV002503880]\|not provided [RCV000224095]\|not specified [RCV000423128]	benign\|likely benign	5	33989460	33989460	Human	2	name , alternate_id
11350700	CV237122	single nucleotide variant	NM_014324.6(AMACR):c.554T>C (p.Val185Ala)	AMACR-related disorder [RCV003407763]\|Alpha-methylacyl-CoA racemase deficiency [RCV000706283]\|not provided [RCV000224246]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	33998826	33998826	Human	2	name , trait , alternate_id
243063282	CV2411621	single nucleotide variant	NM_014324.6(AMACR):c.389C>G (p.Ser130Ter)	not provided [RCV003141344]	uncertain significance	5	34005758	34005758	Human		name
329363272	CV2465009	single nucleotide variant	NM_014324.6(AMACR):c.704C>T (p.Ala235Val)	Inborn genetic diseases [RCV003206336]	uncertain significance	5	33998676	33998676	Human	1	name
401759338	CV2690868	single nucleotide variant	NM_014324.6(AMACR):c.520A>G (p.Thr174Ala)	Inborn genetic diseases [RCV003280128]	uncertain significance	5	34004606	34004606	Human	1	name
401872858	CV2793023	single nucleotide variant	NM_014324.6(AMACR):c.518G>T (p.Arg173Leu)	Inborn genetic diseases [RCV003381754]	uncertain significance	5	34004608	34004608	Human	1	name
401913188	CV2798679	single nucleotide variant	NM_014324.6(AMACR):c.910G>T (p.Val304Phe)	AMACR-related disorder [RCV003427795]	uncertain significance	5	33989332	33989332	Human		name , trait , alternate_id
401961590	CV2843911	single nucleotide variant	NM_014324.6(AMACR):c.983C>T (p.Ala328Val)	not provided [RCV003481750]	uncertain significance	5	33989259	33989259	Human		name
11659758	CV299329	single nucleotide variant	NM_014324.6(AMACR):c.937G>A (p.Gly313Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV000361139]	uncertain significance	5	33989305	33989305	Human	1	name , alternate_id
11662871	CV299332	single nucleotide variant	NM_014324.6(AMACR):c.889G>A (p.Val297Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV000390294]	uncertain significance	5	33989353	33989353	Human	1	name , alternate_id
11596710	CV299333	single nucleotide variant	NM_014324.6(AMACR):c.353G>A (p.Arg118Gln)	Alpha-methylacyl-CoA racemase deficiency [RCV000385825]\|not provided [RCV004716327]\|not specified [RCV000435500]	benign\|likely benign	5	34005794	34005794	Human	1	name , alternate_id
11594831	CV303856	single nucleotide variant	NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV000363748]\|not provided [RCV000676066]\|not specified [RCV000418688]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	33998668	33998668	Human	1	name , alternate_id
405285609	CV3206481	single nucleotide variant	NM_014324.6(AMACR):c.899T>C (p.Phe300Ser)	AMACR-related disorder [RCV003981200]	uncertain significance	5	33989343	33989343	Human		name , trait , alternate_id
405652049	CV3272501	single nucleotide variant	NM_014324.6(AMACR):c.724G>A (p.Glu242Lys)	Inborn genetic diseases [RCV004413921]	uncertain significance	5	33998656	33998656	Human	1	name
407468513	CV3453181	single nucleotide variant	NM_014324.6(AMACR):c.824T>C (p.Phe275Ser)	Inborn genetic diseases [RCV004636313]	uncertain significance	5	33989418	33989418	Human	1	name
12850146	CV364117	single nucleotide variant	NM_014324.6(AMACR):c.445C>A (p.Leu149Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV002524732]\|Inborn genetic diseases [RCV004639232]\|not provided [RCV000442238]	uncertain significance	5	34004681	34004681	Human	2	name , alternate_id
597685631	CV3695348	single nucleotide variant	NM_014324.6(AMACR):c.926A>G (p.Asn309Ser)	Inborn genetic diseases [RCV004984026]	likely benign	5	33989316	33989316	Human	1	name
597685657	CV3695376	single nucleotide variant	NM_014324.6(AMACR):c.644G>A (p.Gly215Asp)	Inborn genetic diseases [RCV004984029]	uncertain significance	5	33998736	33998736	Human	1	name
598244072	CV3895419	single nucleotide variant	NM_014324.6(AMACR):c.799A>G (p.Met267Val)	Alpha-methylacyl-CoA racemase deficiency [RCV005365624]	uncertain significance	5	33989443	33989443	Human	1	name , alternate_id
598207391	CV3972163	single nucleotide variant	NM_014324.6(AMACR):c.809A>T (p.Lys270Met)	Inborn genetic diseases [RCV005337967]	uncertain significance	5	33989433	33989433	Human	1	name
598179823	CV3972202	single nucleotide variant	NM_014324.6(AMACR):c.810G>C (p.Lys270Asn)	Inborn genetic diseases [RCV005352233]	uncertain significance	5	33989432	33989432	Human	1	name
13523984	CV493594	single nucleotide variant	NM_014324.6(AMACR):c.410G>A (p.Gly137Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV001854106]\|Congenital bile acid synthesis defect 4 [RCV005034173]\|Inborn genetic diseases [RCV004024842]\|not provided [RCV000593684]	uncertain significance	5	34004716	34004716	Human	3	name , alternate_id
13521928	CV494217	single nucleotide variant	NM_014324.6(AMACR):c.783G>A (p.Met261Ile)	AMACR-related disorder [RCV004748854]\|Alpha-methylacyl-CoA racemase deficiency [RCV001154993]\|Congenital bile acid synthesis defect 4 [RCV000765839]\|not provided [RCV000591090]	uncertain significance	5	33989459	33989459	Human	2	name , trait , alternate_id
13832889	CV584114	single nucleotide variant	NM_014324.6(AMACR):c.785A>T (p.Asp262Val)	not provided [RCV000727982]	uncertain significance	5	33989457	33989457	Human		name
13835229	CV586486	single nucleotide variant	NM_014324.6(AMACR):c.625G>C (p.Gly209Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV001306056]\|Inborn genetic diseases [RCV002535183]\|not provided [RCV000730965]	uncertain significance	5	33998755	33998755	Human	2	name , alternate_id
13836578	CV587854	single nucleotide variant	NM_014324.6(AMACR):c.770A>G (p.Asn257Ser)	AMACR-related disorder [RCV004748944]\|Alpha-methylacyl-CoA racemase deficiency [RCV003106044]\|not provided [RCV000732738]	uncertain significance	5	33989472	33989472	Human	2	name , trait , alternate_id
13836679	CV587957	single nucleotide variant	NM_014324.6(AMACR):c.785A>G (p.Asp262Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV002535296]\|not provided [RCV000732868]	uncertain significance	5	33989457	33989457	Human	1	name , alternate_id
13837180	CV588466	single nucleotide variant	NM_014324.6(AMACR):c.566C>A (p.Ala189Glu)	Alpha-methylacyl-CoA racemase deficiency [RCV001855784]\|not provided [RCV000733511]	uncertain significance	5	33998814	33998814	Human	1	name , alternate_id
13837468	CV588758	single nucleotide variant	NM_014324.6(AMACR):c.511C>T (p.Arg171Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV001156654]\|Congenital bile acid synthesis defect 4 [RCV005055134]\|Inborn genetic diseases [RCV005338340]\|not provided [RCV000733894]	uncertain significance	5	34004615	34004615	Human	3	name , alternate_id
13837704	CV588994	single nucleotide variant	NM_014324.6(AMACR):c.662C>T (p.Thr221Met)	Alpha-methylacyl-CoA racemase deficiency [RCV001855803]\|not provided [RCV000734193]	uncertain significance	5	33998718	33998718	Human	1	name , alternate_id
28895134	CV894131	single nucleotide variant	NM_014324.6(AMACR):c.841G>C (p.Ala281Pro)	Alpha-methylacyl-CoA racemase deficiency [RCV001154156]	uncertain significance	5	33989401	33989401	Human	1	name , alternate_id
28897321	CV894132	single nucleotide variant	NM_014324.6(AMACR):c.710A>G (p.Glu237Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV001154994]	uncertain significance	5	33998670	33998670	Human	1	name , alternate_id
126733306	CV1026614	single nucleotide variant	NM_014324.6(AMACR):c.1045C>G (p.His349Asp)	Alpha-methylacyl-CoA racemase deficiency [RCV001349757]	uncertain significance	5	33989197	33989197	Human	1	name , alternate_id
151793191	CV1372280	single nucleotide variant	NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV001973240]\|Inborn genetic diseases [RCV005343217]\|not provided [RCV002261434]	uncertain significance	5	33989145	33989145	Human	2	name , alternate_id
151806613	CV1400053	single nucleotide variant	NM_014324.6(AMACR):c.1082G>A (p.Arg361His)	AMACR-related disorder [RCV003418243]\|Alpha-methylacyl-CoA racemase deficiency [RCV002012048]	uncertain significance	5	33989160	33989160	Human	2	name , trait , alternate_id
151806282	CV1440808	single nucleotide variant	NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys)	Alpha-methylacyl-CoA racemase deficiency [RCV001932767]\|Inborn genetic diseases [RCV004041756]	uncertain significance	5	33989158	33989158	Human	2	name , alternate_id
151765165	CV1495781	single nucleotide variant	NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly)	Alpha-methylacyl-CoA racemase deficiency [RCV001863532]	uncertain significance	5	33989133	33989133	Human	1	name , alternate_id
156364896	CV1934917	single nucleotide variant	NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)	Alpha-methylacyl-CoA racemase deficiency [RCV002651893]	uncertain significance	5	33989128	33989128	Human	1	name , alternate_id
156444917	CV1948967	single nucleotide variant	NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)	Alpha-methylacyl-CoA racemase deficiency [RCV003115850]	uncertain significance	5	33989161	33989161	Human	1	name , alternate_id
156375268	CV2004000	single nucleotide variant	NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV002653243]	uncertain significance	5	33989215	33989215	Human	1	name , alternate_id
156102966	CV2011681	single nucleotide variant	NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV002695376]	uncertain significance	5	33989172	33989172	Human	1	name , alternate_id
155985671	CV2055966	single nucleotide variant	NM_014324.6(AMACR):c.1108G>C (p.Asp370His)	Alpha-methylacyl-CoA racemase deficiency [RCV002818965]	uncertain significance	5	33989134	33989134	Human	1	name , alternate_id
156282008	CV2133873	single nucleotide variant	NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)	Alpha-methylacyl-CoA racemase deficiency [RCV003009634]	uncertain significance	5	33989206	33989206	Human	1	name , alternate_id
155950122	CV2158918	single nucleotide variant	NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)	Alpha-methylacyl-CoA racemase deficiency [RCV003014805]	uncertain significance	5	33989116	33989116	Human	1	name , alternate_id
156305527	CV2167492	single nucleotide variant	NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV003045759]	uncertain significance	5	33989239	33989239	Human	1	name , alternate_id
156031601	CV2202754	single nucleotide variant	NM_014324.6(AMACR):c.1025G>C (p.Arg342Thr)	Inborn genetic diseases [RCV002691620]	uncertain significance	5	33989217	33989217	Human	1	name
408384744	CV3504535	single nucleotide variant	NM_014324.6(AMACR):c.1057A>T (p.Ile353Leu)	AMACR-related disorder [RCV004731992]	uncertain significance	5	33989185	33989185	Human		name , trait , alternate_id
598179746	CV3972181	single nucleotide variant	NM_014324.6(AMACR):c.1092T>G (p.Ile364Met)	Inborn genetic diseases [RCV005352217]	uncertain significance	5	33989150	33989150	Human	1	name
13834007	CV585247	single nucleotide variant	NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly)	AMACR-related disorder [RCV004748928]\|Alpha-methylacyl-CoA racemase deficiency [RCV001297394]\|not provided [RCV000729411]	uncertain significance	5	33989119	33989119	Human	2	name , trait , alternate_id
13837144	CV588429	single nucleotide variant	NM_014324.6(AMACR):c.1149A>C (p.Ter383Tyr)	not provided [RCV000733463]	uncertain significance	5	33989093	33989093	Human		name
28891678	CV894128	single nucleotide variant	NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn)	Alpha-methylacyl-CoA racemase deficiency [RCV001152874]	uncertain significance	5	33989105	33989105	Human	1	name , alternate_id
28895128	CV894129	single nucleotide variant	NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys)	Alpha-methylacyl-CoA racemase deficiency [RCV001154154]	uncertain significance	5	33989191	33989191	Human	1	name , alternate_id
28895132	CV894130	single nucleotide variant	NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile)	Alpha-methylacyl-CoA racemase deficiency [RCV001154155]\|not provided [RCV002261293]	uncertain significance	5	33989241	33989241	Human	1	name , alternate_id
597685638	CV3695358	insertion	NM_014324.6(AMACR):c.643_644insC (p.Gly215fs)	Inborn genetic diseases [RCV004984027]	likely pathogenic	5	33998736	33998737	Human	1	name
26898745	CV830836	inversion	NM_014324.6(AMACR):c.602_603inv (p.Leu201Ser)	Alpha-methylacyl-CoA racemase deficiency [RCV001049000]	likely benign\|uncertain significance	5	33998777	33998778	Human		name , alternate_id
156368869	CV2113402	insertion	NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)	Alpha-methylacyl-CoA racemase deficiency [RCV002942167]	uncertain significance	5	33989243	33989244	Human	1	name , alternate_id
13519736	CV492834	indel	NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)	Alpha-methylacyl-CoA racemase deficiency [RCV001854087]\|not provided [RCV000598106]	uncertain significance	5	34007892	34007893	Human		name , alternate_id
151862055	CV1408953	indel	NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu)	Alpha-methylacyl-CoA racemase deficiency [RCV001905409]	uncertain significance	5	33989333	33989334	Human		name , alternate_id
155737942	CV1774651	indel	NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe)	Alpha-methylacyl-CoA racemase deficiency [RCV002302103]	uncertain significance	5	34005785	34005786	Human		name , alternate_id
408383129	CV3504637	indel	NM_014324.6(AMACR):c.872_873delinsGG (p.Asp291Gly)	AMACR-related disorder [RCV004730383]	uncertain significance	5	33989369	33989370	Human		name , trait , alternate_id
156003946	CV2041827	deletion	NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)	Alpha-methylacyl-CoA racemase deficiency [RCV002756338]	uncertain significance	5	34005785	34005805	Human	1	name , alternate_id
155994869	CV1879439	deletion	NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)	Alpha-methylacyl-CoA racemase deficiency [RCV003076294]	uncertain significance	5	34005884	34005892	Human	1	name , alternate_id
151890498	CV1348962	duplication	NC_000005.9:g.(?_34007858)_(34935958_?)dup	Alpha-methylacyl-CoA racemase deficiency [RCV001943057]	uncertain significance				Human	1	alternate_id
151731458	CV1419256	duplication	NC_000005.9:g.(?_33944753)_(35089722_?)dup	Alpha-methylacyl-CoA racemase deficiency [RCV001946089]	uncertain significance				Human	1	alternate_id
151866205	CV1472407	deletion	NC_000005.9:g.(?_33944753)_(34008124_?)del	Alpha-methylacyl-CoA racemase deficiency [RCV002018376]	uncertain significance				Human		alternate_id
156445778	CV1939949	deletion	NC_000005.9:g.(?_34007858)_(34008124_?)del	Alpha-methylacyl-CoA racemase deficiency [RCV003116736]	uncertain significance				Human	1	alternate_id
156445779	CV1939950	duplication	NC_000005.9:g.(?_33986409)_(33989627_?)dup	Alpha-methylacyl-CoA racemase deficiency [RCV003116737]	uncertain significance				Human	1	alternate_id
405874183	CV3402500	duplication	NC_000005.9:g.(?_33944753)_(33989627_?)dup	Alpha-methylacyl-CoA racemase deficiency [RCV004578996]	uncertain significance				Human	1	alternate_id

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