Xpr1 Variant Search Result - Rat Genome Database

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278 records found for search term Xpr1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596921032	CV3534478	single nucleotide variant	NM_004736.4(XPR1):c.*3T>A	not specified [RCV004783697]	uncertain significance	1	180884069	180884069	Human		name
150451348	CV1205382	single nucleotide variant	NM_004736.4(XPR1):c.*81T>C	not provided [RCV001585282]	likely benign	1	180884147	180884147	Human		name
150471120	CV1248156	single nucleotide variant	NM_004736.4(XPR1):c.-132G>A	not provided [RCV001671193]	benign	1	180632070	180632070	Human		name
152065274	CV1539725	single nucleotide variant	NM_004736.4(XPR1):c.763+3A>C	not provided [RCV002147330]	likely benign	1	180811491	180811491	Human		name
152060642	CV1558248	single nucleotide variant	NM_004736.4(XPR1):c.69+18G>C	not provided [RCV002128299]	likely benign	1	180632288	180632288	Human		name
152052744	CV1581142	single nucleotide variant	NM_004736.4(XPR1):c.69+20G>A	not provided [RCV002089364]	likely benign	1	180632290	180632290	Human		name
156068310	CV2032377	single nucleotide variant	NM_004736.4(XPR1):c.597+3A>G	not provided [RCV002760242]	uncertain significance	1	180806214	180806214	Human		name
156053419	CV2192552	single nucleotide variant	NM_004736.4(XPR1):c.122-1G>C	not provided [RCV003036991]	uncertain significance	1	180787752	180787752	Human		name
402485569	CV2945036	single nucleotide variant	NM_004736.4(XPR1):c.69+10C>T	not provided [RCV003660039]	likely benign	1	180632280	180632280	Human		name
404979073	CV3183127	single nucleotide variant	NM_004736.4(XPR1):c.70-13T>A	not provided [RCV003880150]	likely benign	1	180682347	180682347	Human		name
597859755	CV3744682	single nucleotide variant	NM_004736.4(XPR1):c.121+8G>A	not provided [RCV005067227]	likely benign	1	180682419	180682419	Human		name
150339849	CV1167878	single nucleotide variant	NM_004736.4(XPR1):c.682-19A>G	not provided [RCV001534665]	benign	1	180811388	180811388	Human		name
150465781	CV1201134	single nucleotide variant	NM_004736.4(XPR1):c.121+67G>A	not provided [RCV001587614]	likely benign	1	180682478	180682478	Human		name
150458075	CV1219703	single nucleotide variant	NM_004736.4(XPR1):c.764-25G>A	not provided [RCV001612919]	benign	1	180824728	180824728	Human		name
150430583	CV1230952	single nucleotide variant	NM_004736.4(XPR1):c.764-16C>A	not provided [RCV001641501]	benign	1	180824737	180824737	Human		name
150486975	CV1237257	duplication	NM_004736.4(XPR1):c.223+27dup	not provided [RCV001654105]	benign	1	180787871	180787872	Human		name
150443393	CV1264591	single nucleotide variant	NM_004736.4(XPR1):c.224-89A>G	not provided [RCV001679575]	benign	1	180803299	180803299	Human		name
150461368	CV1270639	duplication	NM_004736.4(XPR1):c.1135-8dup	Basal ganglia calcification, idiopathic, 6 [RCV002503149]\|not provided [RCV001693629]	benign	1	180834856	180834857	Human	1	name
150446304	CV1271849	single nucleotide variant	NM_004736.4(XPR1):c.223+66A>G	not provided [RCV001691263]	benign	1	180787920	180787920	Human		name
151864519	CV1478745	single nucleotide variant	NM_004736.4(XPR1):c.1306+4G>A	not provided [RCV002018171]	uncertain significance	1	180835049	180835049	Human		name
152032103	CV1624697	single nucleotide variant	NM_004736.4(XPR1):c.955-12A>G	not provided [RCV002186830]	likely benign	1	180825153	180825153	Human		name
152085385	CV1645201	deletion	NM_004736.4(XPR1):c.1135-8del	not provided [RCV002131363]	benign	1	180834857	180834857	Human		name
152085872	CV1645276	single nucleotide variant	NM_004736.4(XPR1):c.597+13C>T	not provided [RCV002131419]	likely benign	1	180806224	180806224	Human		name
156233775	CV1965831	single nucleotide variant	NM_004736.4(XPR1):c.1809-3A>C	not provided [RCV002596901]	uncertain significance	1	180880073	180880073	Human		name
156321496	CV1978639	single nucleotide variant	NM_004736.4(XPR1):c.597+14G>A	not provided [RCV002630374]	likely benign	1	180806225	180806225	Human		name
156251103	CV1984775	single nucleotide variant	NM_004736.4(XPR1):c.598-20G>A	not provided [RCV002645899]	likely benign	1	180806454	180806454	Human		name
156371805	CV1993540	single nucleotide variant	NM_004736.4(XPR1):c.1501+6C>T	not provided [RCV002652960]	uncertain significance	1	180836722	180836722	Human		name
156306488	CV1999861	single nucleotide variant	NM_004736.4(XPR1):c.448-17C>T	not provided [RCV002671407]	likely benign	1	180806045	180806045	Human		name
155957361	CV2040225	deletion	NM_004736.4(XPR1):c.223+27del	not provided [RCV002776087]	benign	1	180787872	180787872	Human		name
401796314	CV2740496	single nucleotide variant	NM_004736.4(XPR1):c.1134+1G>C	not provided [RCV003321166]	uncertain significance	1	180825345	180825345	Human		name
405218814	CV2968807	single nucleotide variant	NM_004736.4(XPR1):c.1134+7C>T	not provided [RCV003680380]	likely benign	1	180825351	180825351	Human		name
402510431	CV2994678	single nucleotide variant	NM_004736.4(XPR1):c.1809-9T>A	not provided [RCV003689427]	likely benign	1	180880067	180880067	Human		name
405175342	CV3123094	single nucleotide variant	NM_004736.4(XPR1):c.448-15C>T	not provided [RCV003819493]	likely benign	1	180806047	180806047	Human		name
405049584	CV3137971	single nucleotide variant	NM_004736.4(XPR1):c.122-20A>G	not provided [RCV003832009]	likely benign	1	180787733	180787733	Human		name
405014116	CV3138857	single nucleotide variant	NM_004736.4(XPR1):c.763+15T>G	not provided [RCV003829194]	likely benign	1	180811503	180811503	Human		name
405290857	CV3207655	single nucleotide variant	NM_004736.4(XPR1):c.2030+4T>C	XPR1-related disorder [RCV003927218]	likely benign	1	180880301	180880301	Human		name , trait , alternate_id
597834846	CV3739570	single nucleotide variant	NM_004736.4(XPR1):c.954+17A>G	not provided [RCV005063789]	likely benign	1	180824960	180824960	Human		name
597876739	CV3747898	single nucleotide variant	NM_004736.4(XPR1):c.224-17C>T	not provided [RCV005069390]	likely benign	1	180803371	180803371	Human		name
597848677	CV3762218	single nucleotide variant	NM_004736.4(XPR1):c.682-12T>C	not specified [RCV005087636]	likely benign	1	180811395	180811395	Human		name
597954863	CV3844530	single nucleotide variant	NM_004736.4(XPR1):c.1307-7T>C	not provided [RCV005191204]	benign	1	180836515	180836515	Human		name
598124493	CV3885219	single nucleotide variant	NM_004736.4(XPR1):c.955-14C>G	not specified [RCV005239796]	likely benign	1	180825151	180825151	Human		name
15186036	CV777062	single nucleotide variant	NM_004736.4(XPR1):c.1135-7C>T	not provided [RCV000953161]	benign\|likely benign	1	180834867	180834867	Human		name
15137186	CV778748	single nucleotide variant	NM_004736.4(XPR1):c.1306+8A>G	XPR1-related disorder [RCV003936001]\|not provided [RCV000965574]	benign\|likely benign	1	180835053	180835053	Human	1	name , trait , alternate_id
21072174	CV794505	single nucleotide variant	NM_004736.4(XPR1):c.2031-2A>G	not provided [RCV000994203]	likely pathogenic	1	180884004	180884004	Human		name
8575186	CV109531	single nucleotide variant	NM_001135669.1(XPR1):c.-157G>C	Lung cancer [RCV000090056]	uncertain significance	1	180632045	180632045	Human		name
150339647	CV1167172	single nucleotide variant	NM_004736.4(XPR1):c.764-273C>T	not provided [RCV001534412]	likely benign	1	180824480	180824480	Human		name
150424429	CV1182813	single nucleotide variant	NM_004736.4(XPR1):c.121+249A>C	not provided [RCV001556646]	likely benign	1	180682660	180682660	Human		name
150427257	CV1186083	single nucleotide variant	NM_004736.4(XPR1):c.224-189G>A	not provided [RCV001560689]	likely benign	1	180803199	180803199	Human		name
150495588	CV1205044	single nucleotide variant	NM_004736.4(XPR1):c.597+125A>G	not provided [RCV001593536]	likely benign	1	180806336	180806336	Human		name
150511299	CV1212700	single nucleotide variant	NM_004736.4(XPR1):c.1502-55A>T	not provided [RCV001597931]	benign	1	180863653	180863653	Human		name
150439657	CV1221337	single nucleotide variant	NM_004736.4(XPR1):c.1306+18A>T	not provided [RCV001610032]	benign	1	180835063	180835063	Human		name
150516711	CV1227202	single nucleotide variant	NM_004736.4(XPR1):c.1668+77C>T	not provided [RCV001639300]	benign	1	180863951	180863951	Human		name
150512837	CV1228833	single nucleotide variant	NM_004736.4(XPR1):c.224-179G>C	not provided [RCV001637675]	benign	1	180803209	180803209	Human		name
150488906	CV1237554	single nucleotide variant	NM_004736.4(XPR1):c.1809-72A>C	not provided [RCV001654403]	benign	1	180880004	180880004	Human		name
150447872	CV1253466	single nucleotide variant	NM_004736.4(XPR1):c.1669-83G>T	not provided [RCV001667394]	benign	1	180873720	180873720	Human		name
150504184	CV1257946	single nucleotide variant	NM_004736.4(XPR1):c.1135-88T>C	not provided [RCV001677634]	benign	1	180834786	180834786	Human		name
150444253	CV1258491	single nucleotide variant	NM_004736.4(XPR1):c.2031-87G>T	not provided [RCV001679689]	benign	1	180883919	180883919	Human		name
150455744	CV1259910	single nucleotide variant	NM_004736.4(XPR1):c.223+296T>G	not provided [RCV001681389]	benign	1	180788150	180788150	Human		name
150448445	CV1260686	single nucleotide variant	NM_004736.4(XPR1):c.224-200G>A	not provided [RCV001680354]	benign	1	180803188	180803188	Human		name
150439549	CV1266788	single nucleotide variant	NM_004736.4(XPR1):c.764-161G>A	not provided [RCV001690223]	benign	1	180824592	180824592	Human		name
150466859	CV1268844	single nucleotide variant	NM_004736.4(XPR1):c.1135-45C>T	not provided [RCV001694541]	benign	1	180834829	180834829	Human		name
150471182	CV1270023	single nucleotide variant	NM_004736.4(XPR1):c.223+154G>A	not provided [RCV001695311]	benign	1	180788008	180788008	Human		name
150447728	CV1270353	single nucleotide variant	NM_004736.4(XPR1):c.224-110G>A	not provided [RCV001691490]	benign	1	180803278	180803278	Human		name
150493063	CV1281633	single nucleotide variant	NM_004736.4(XPR1):c.2030+61T>C	not provided [RCV001716932]	benign	1	180880358	180880358	Human		name
152168419	CV1548004	single nucleotide variant	NM_004736.4(XPR1):c.1669-20A>T	not provided [RCV002161119]	benign	1	180873783	180873783	Human		name
152149886	CV1616935	single nucleotide variant	NM_004736.4(XPR1):c.1502-15C>A	not provided [RCV002201802]	likely benign	1	180863693	180863693	Human		name
156345185	CV1958146	single nucleotide variant	NM_004736.4(XPR1):c.1808+16A>G	not provided [RCV002580726]	likely benign	1	180873958	180873958	Human		name
156158770	CV2147209	single nucleotide variant	NM_004736.4(XPR1):c.1669-11T>G	not provided [RCV003023114]	uncertain significance	1	180873792	180873792	Human		name
401919044	CV2794739	single nucleotide variant	NM_004736.4(XPR1):c.1502-13C>A	not specified [RCV003388413]	likely benign	1	180863695	180863695	Human		name
405133698	CV3130109	single nucleotide variant	NM_004736.4(XPR1):c.1307-17C>A	not provided [RCV003838532]	likely benign	1	180836505	180836505	Human		name
405196072	CV3146577	single nucleotide variant	NM_004736.4(XPR1):c.2031-18C>A	not provided [RCV003843932]	likely benign	1	180883988	180883988	Human		name
405128882	CV3163286	single nucleotide variant	NM_004736.4(XPR1):c.2031-14C>T	not provided [RCV003854467]	likely benign	1	180883992	180883992	Human		name
597870878	CV3749973	single nucleotide variant	NM_004736.4(XPR1):c.1502-15C>T	not provided [RCV005068654]	likely benign	1	180863693	180863693	Human		name
150414905	CV1175786	single nucleotide variant	NM_004736.4(XPR1):c.1306+298A>G	not provided [RCV001548340]	likely benign	1	180835343	180835343	Human		name
150428235	CV1186084	single nucleotide variant	NM_004736.4(XPR1):c.2030+210A>C	not provided [RCV001561998]	likely benign	1	180880507	180880507	Human		name
150404291	CV1192741	deletion	NM_004736.4(XPR1):c.1135-269del	not provided [RCV001571029]	likely benign	1	180834603	180834603	Human		name
150513741	CV1213854	single nucleotide variant	NM_004736.4(XPR1):c.1134+281C>A	not provided [RCV001598590]	benign	1	180825625	180825625	Human		name
150456704	CV1235242	single nucleotide variant	NM_004736.4(XPR1):c.1502-219G>A	not provided [RCV001648658]	benign	1	180863489	180863489	Human		name
150431336	CV1235413	duplication	NM_004736.4(XPR1):c.2031-282dup	not provided [RCV001641783]	benign	1	180883707	180883708	Human		name
150498865	CV1235638	single nucleotide variant	NM_004736.4(XPR1):c.1669-135G>A	not provided [RCV001656321]	benign	1	180873668	180873668	Human		name
150488603	CV1237506	single nucleotide variant	NM_004736.4(XPR1):c.2030+206G>A	not provided [RCV001654355]	benign	1	180880503	180880503	Human		name
150482463	CV1244281	duplication	NM_004736.4(XPR1):c.1307-154dup	not provided [RCV001653128]	benign	1	180836356	180836357	Human		name
150483381	CV1247611	single nucleotide variant	NM_004736.4(XPR1):c.1668+262A>G	not provided [RCV001673437]	benign	1	180864136	180864136	Human		name
150503589	CV1257826	single nucleotide variant	NM_004736.4(XPR1):c.1134+234T>C	not provided [RCV001677514]	benign	1	180825578	180825578	Human		name
150479803	CV1258313	single nucleotide variant	NM_004736.4(XPR1):c.2030+215C>T	not provided [RCV001685732]	benign	1	180880512	180880512	Human		name
150482425	CV1261619	single nucleotide variant	NM_004736.4(XPR1):c.1134+173T>G	not provided [RCV001686222]	benign	1	180825517	180825517	Human		name
150466380	CV1268763	single nucleotide variant	NM_004736.4(XPR1):c.1669-117G>A	not provided [RCV001694460]	benign	1	180873686	180873686	Human		name
150482209	CV1279933	single nucleotide variant	NM_004736.4(XPR1):c.1809-131A>G	not provided [RCV001714986]	benign	1	180879945	180879945	Human		name
150437069	CV1286484	deletion	NM_004736.4(XPR1):c.1307-154del	not provided [RCV001724562]	benign	1	180836357	180836357	Human		name
8575187	CV109532	single nucleotide variant	NM_001135669.1(XPR1):c.121+8905A>G	Lung cancer [RCV000090057]	uncertain significance	1	180691316	180691316	Human		name
8575188	CV109533	single nucleotide variant	NM_001135669.1(XPR1):c.122-31217C>A	Lung cancer [RCV000090058]	uncertain significance	1	180756536	180756536	Human		name
152029264	CV1555722	single nucleotide variant	NM_004736.4(XPR1):c.93A>T (p.Ser31=)	not provided [RCV002186106]	likely benign	1	180682383	180682383	Human		name
152081633	CV1641398	deletion	NM_004736.4(XPR1):c.224-11_224-10del	not provided [RCV002211498]	likely benign	1	180803376	180803377	Human		name
152107536	CV1661909	duplication	NM_004736.4(XPR1):c.223+26_223+27dup	not provided [RCV002116117]	benign	1	180787871	180787872	Human		name
156172500	CV2003852	single nucleotide variant	NM_004736.4(XPR1):c.66T>C (p.Tyr22=)	Basal ganglia calcification, idiopathic, 6 [RCV003138319]\|not provided [RCV002642761]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	180632267	180632267	Human	1	name
597960992	CV3753164	single nucleotide variant	NM_004736.4(XPR1):c.87G>C (p.Leu29=)	not provided [RCV005081664]	likely benign	1	180682377	180682377	Human		name
156204816	CV1922654	single nucleotide variant	NM_004736.4(XPR1):c.222A>G (p.Ser74=)	not provided [RCV002643768]	uncertain significance	1	180787853	180787853	Human		name
156441725	CV1941053	single nucleotide variant	NM_004736.4(XPR1):c.231C>T (p.Leu77=)	XPR1-related disorder [RCV003966264]\|not provided [RCV003112056]	benign\|likely benign	1	180803395	180803395	Human	1	name , trait , alternate_id
156001840	CV1987858	single nucleotide variant	NM_004736.4(XPR1):c.243G>A (p.Gln81=)	not provided [RCV002618486]	likely benign	1	180803407	180803407	Human		name
401913325	CV2830324	single nucleotide variant	NM_004736.4(XPR1):c.26C>G (p.Ala9Gly)	not provided [RCV003441539]	uncertain significance	1	180632227	180632227	Human		name
405136889	CV2954348	single nucleotide variant	NM_004736.4(XPR1):c.138A>G (p.Thr46=)	not provided [RCV003672891]	likely benign	1	180787769	180787769	Human		name
596922388	CV3537188	single nucleotide variant	NM_004736.4(XPR1):c.23C>A (p.Ser8Tyr)	not provided [RCV004786184]	uncertain significance	1	180632224	180632224	Human		name
150454453	CV1277003	single nucleotide variant	NM_004736.4(XPR1):c.408T>C (p.Ser136=)	not provided [RCV001708794]	benign	1	180803572	180803572	Human		name
151741823	CV1386738	single nucleotide variant	NM_004736.4(XPR1):c.681G>A (p.Gln227=)	not provided [RCV001893338]	uncertain significance	1	180806557	180806557	Human		name
151744589	CV1401602	single nucleotide variant	NM_004736.4(XPR1):c.762C>T (p.Ala254=)	Basal ganglia calcification, idiopathic, 6 [RCV004527435]\|not provided [RCV001947452]	uncertain significance	1	180811487	180811487	Human	1	name
152099870	CV1578656	single nucleotide variant	NM_004736.4(XPR1):c.537C>T (p.His179=)	not provided [RCV002151677]	likely benign	1	180806151	180806151	Human		name
152141136	CV1628888	single nucleotide variant	NM_004736.4(XPR1):c.660C>T (p.Val220=)	not provided [RCV002100792]	likely benign	1	180806536	180806536	Human		name
156314409	CV1910140	single nucleotide variant	NM_004736.4(XPR1):c.663C>A (p.Pro221=)	not provided [RCV002599851]	benign	1	180806539	180806539	Human		name
156021056	CV1911430	single nucleotide variant	NM_004736.4(XPR1):c.867G>A (p.Thr289=)	not provided [RCV002636710]	likely benign	1	180824856	180824856	Human		name
156105298	CV1956988	single nucleotide variant	NM_004736.4(XPR1):c.969C>T (p.Leu323=)	not provided [RCV002570998]	likely benign	1	180825179	180825179	Human		name
155976746	CV1972196	single nucleotide variant	NM_004736.4(XPR1):c.348C>T (p.His116=)	not provided [RCV002617422]	likely benign	1	180803512	180803512	Human		name
156395767	CV1980415	single nucleotide variant	NM_004736.4(XPR1):c.318G>A (p.Thr106=)	not provided [RCV002605117]	likely benign	1	180803482	180803482	Human		name
405019950	CV2866069	single nucleotide variant	NM_004736.4(XPR1):c.558T>C (p.Tyr186=)	not provided [RCV003577389]	likely benign	1	180806172	180806172	Human		name
405167590	CV3070970	single nucleotide variant	NM_004736.4(XPR1):c.903C>T (p.Leu301=)	not provided [RCV003727569]	likely benign	1	180824892	180824892	Human		name
405035502	CV3072613	single nucleotide variant	NM_004736.4(XPR1):c.985C>T (p.Leu329=)	not provided [RCV003739483]	likely benign	1	180825195	180825195	Human		name
405213144	CV3142762	single nucleotide variant	NM_004736.4(XPR1):c.432G>A (p.Leu144=)	not provided [RCV003846119]	likely benign	1	180803596	180803596	Human		name
405235169	CV3166222	single nucleotide variant	NM_004736.4(XPR1):c.636A>G (p.Gln212=)	not provided [RCV003853671]	likely benign	1	180806512	180806512	Human		name
405228509	CV3180383	single nucleotide variant	NM_004736.4(XPR1):c.360G>A (p.Glu120=)	not provided [RCV003864803]	likely benign	1	180803524	180803524	Human		name
597924526	CV3748500	single nucleotide variant	NM_004736.4(XPR1):c.942A>G (p.Gln314=)	not provided [RCV005075147]	likely benign	1	180824931	180824931	Human		name
597934491	CV3750488	single nucleotide variant	NM_004736.4(XPR1):c.99G>C (p.Gln33His)	not provided [RCV005076413]	uncertain significance	1	180682389	180682389	Human		name
597950719	CV3759767	single nucleotide variant	NM_004736.4(XPR1):c.609C>T (p.Thr203=)	not provided [RCV005079367]	likely benign	1	180806485	180806485	Human		name
597974723	CV3798532	single nucleotide variant	NM_004736.4(XPR1):c.648G>A (p.Lys216=)	not provided [RCV005144120]	likely benign	1	180806524	180806524	Human		name
15189090	CV696299	single nucleotide variant	NM_004736.4(XPR1):c.819G>T (p.Arg273=)	not provided [RCV000954074]	benign\|likely benign	1	180824808	180824808	Human		name
15200925	CV718420	single nucleotide variant	NM_004736.4(XPR1):c.921G>A (p.Pro307=)	not provided [RCV000891048]	benign	1	180824910	180824910	Human		name
150439791	CV1221357	single nucleotide variant	NM_004736.4(XPR1):c.1158C>T (p.Phe386=)	not provided [RCV001610052]	benign	1	180834897	180834897	Human		name
150486309	CV1225723	insertion	NM_004736.4(XPR1):c.223+127_223+128insT	not provided [RCV001617884]	benign	1	180787981	180787982	Human		name
150437193	CV1286506	single nucleotide variant	NM_004736.4(XPR1):c.1128A>G (p.Lys376=)	not provided [RCV001724584]	benign\|likely benign	1	180825338	180825338	Human		name
150551277	CV1292615	single nucleotide variant	NM_004736.4(XPR1):c.188A>G (p.Glu63Gly)	not provided [RCV001754222]	uncertain significance	1	180787819	180787819	Human		name
150549234	CV1294766	deletion	NM_004736.4(XPR1):c.808del (p.Arg270fs)	not provided [RCV001752258]	uncertain significance	1	180824796	180824796	Human		name
151858287	CV1347615	single nucleotide variant	NM_004736.4(XPR1):c.289G>T (p.Ala97Ser)	not provided [RCV002034051]	uncertain significance	1	180803453	180803453	Human		name
151797389	CV1467685	single nucleotide variant	NM_004736.4(XPR1):c.1111C>A (p.Arg371=)	not provided [RCV001952602]	likely benign\|uncertain significance	1	180825321	180825321	Human		name
152173657	CV1539737	single nucleotide variant	NM_004736.4(XPR1):c.1401T>C (p.Tyr467=)	not provided [RCV002162880]	likely benign	1	180836616	180836616	Human		name
152029206	CV1568183	single nucleotide variant	NM_004736.4(XPR1):c.1674C>T (p.Tyr558=)	not provided [RCV002105507]	likely benign	1	180873808	180873808	Human		name
152046125	CV1591188	single nucleotide variant	NM_004736.4(XPR1):c.1515G>C (p.Ser505=)	not provided [RCV002188845]	likely benign	1	180863721	180863721	Human		name
152060533	CV1630842	single nucleotide variant	NM_004736.4(XPR1):c.1245C>T (p.Cys415=)	not provided [RCV002128287]	likely benign	1	180834984	180834984	Human		name
152173145	CV1641852	single nucleotide variant	NM_004736.4(XPR1):c.1398A>G (p.Arg466=)	not provided [RCV002184077]	benign	1	180836613	180836613	Human		name
152102852	CV1656629	single nucleotide variant	NM_004736.4(XPR1):c.1191G>A (p.Ala397=)	not provided [RCV002115575]	likely benign	1	180834930	180834930	Human		name
155718846	CV1778529	single nucleotide variant	NM_004736.4(XPR1):c.182C>G (p.Thr61Ser)	not provided [RCV002296615]	uncertain significance	1	180787813	180787813	Human		name
156066680	CV1952339	single nucleotide variant	NM_004736.4(XPR1):c.1659C>T (p.Tyr553=)	not provided [RCV002569479]	likely benign	1	180863865	180863865	Human		name
156240536	CV1952977	single nucleotide variant	NM_004736.4(XPR1):c.1924C>T (p.Leu642=)	not provided [RCV002576202]	likely benign	1	180880191	180880191	Human		name
156087198	CV1953288	single nucleotide variant	NM_004736.4(XPR1):c.1473G>A (p.Thr491=)	not provided [RCV002570100]	likely benign	1	180836688	180836688	Human		name
156014076	CV2076497	single nucleotide variant	NM_004736.4(XPR1):c.1482C>A (p.Ala494=)	not provided [RCV002866259]	likely benign	1	180836697	180836697	Human		name
155957142	CV2087059	single nucleotide variant	NM_004736.4(XPR1):c.1695G>A (p.Glu565=)	not provided [RCV002862668]	likely benign	1	180873829	180873829	Human		name
156330321	CV2116448	single nucleotide variant	NM_004736.4(XPR1):c.1515G>A (p.Ser505=)	not provided [RCV002938329]	likely benign	1	180863721	180863721	Human		name
155970875	CV2158093	single nucleotide variant	NM_004736.4(XPR1):c.1869C>T (p.Phe623=)	not provided [RCV003033429]	likely benign	1	180880136	180880136	Human		name
156315351	CV2158613	single nucleotide variant	NM_004736.4(XPR1):c.171G>C (p.Lys57Asn)	not provided [RCV003028826]	uncertain significance	1	180787802	180787802	Human		name
156189069	CV2165824	single nucleotide variant	NM_004736.4(XPR1):c.1878G>A (p.Val626=)	not provided [RCV003041592]	likely benign	1	180880145	180880145	Human		name
156327589	CV2332125	single nucleotide variant	NM_004736.4(XPR1):c.278C>T (p.Ser93Leu)	Inborn genetic diseases [RCV002963788]\|not provided [RCV003561133]	uncertain significance	1	180803442	180803442	Human	1	name
401828234	CV2744592	single nucleotide variant	NM_004736.4(XPR1):c.143A>G (p.Lys48Arg)	not provided [RCV003327990]	uncertain significance	1	180787774	180787774	Human		name
402502305	CV2869305	single nucleotide variant	NM_004736.4(XPR1):c.1908A>C (p.Ala636=)	not provided [RCV003546033]	likely benign	1	180880175	180880175	Human		name
405052274	CV2893541	single nucleotide variant	NM_004736.4(XPR1):c.130G>A (p.Glu44Lys)	not provided [RCV003579874]	uncertain significance	1	180787761	180787761	Human		name
405204647	CV2912565	single nucleotide variant	NM_004736.4(XPR1):c.1800G>A (p.Glu600=)	not provided [RCV003566342]	likely benign	1	180873934	180873934	Human		name
405230384	CV2964354	single nucleotide variant	NM_004736.4(XPR1):c.1035T>C (p.Tyr345=)	not provided [RCV003682151]	likely benign	1	180825245	180825245	Human		name
405148499	CV3024246	single nucleotide variant	NM_004736.4(XPR1):c.1785C>T (p.Val595=)	not provided [RCV003703117]	likely benign	1	180873919	180873919	Human		name
405241164	CV3061048	single nucleotide variant	NM_004736.4(XPR1):c.1734G>A (p.Ser578=)	XPR1-related disorder [RCV003901352]\|not provided [RCV003737290]	likely benign	1	180873868	180873868	Human	1	name , trait , alternate_id
405207351	CV3120397	single nucleotide variant	NM_004736.4(XPR1):c.1611C>T (p.Phe537=)	not provided [RCV003822731]	likely benign	1	180863817	180863817	Human		name
404984364	CV3121709	single nucleotide variant	NM_004736.4(XPR1):c.272T>C (p.Leu91Pro)	not provided [RCV003826508]	uncertain significance	1	180803436	180803436	Human		name
405211523	CV3146360	single nucleotide variant	NM_004736.4(XPR1):c.1074C>T (p.Phe358=)	not provided [RCV003845891]	likely benign	1	180825284	180825284	Human		name
408390614	CV3519445	single nucleotide variant	NM_004736.4(XPR1):c.230T>C (p.Leu77Pro)	not provided [RCV004762754]	uncertain significance	1	180803394	180803394	Human		name
597862524	CV3770603	single nucleotide variant	NM_004736.4(XPR1):c.1353T>C (p.Val451=)	not provided [RCV005106252]	likely benign	1	180836568	180836568	Human		name
597924038	CV3840083	single nucleotide variant	NM_004736.4(XPR1):c.1317T>C (p.Ile439=)	not provided [RCV005184822]	likely benign	1	180836532	180836532	Human		name
597869653	CV3858469	single nucleotide variant	NM_004736.4(XPR1):c.1380C>T (p.Phe460=)	not provided [RCV005197212]	likely benign	1	180836595	180836595	Human		name
15175599	CV731901	single nucleotide variant	NM_004736.4(XPR1):c.1263C>T (p.Leu421=)	not provided [RCV000906253]	likely benign	1	180835002	180835002	Human		name
15116626	CV745870	single nucleotide variant	NM_004736.4(XPR1):c.1219C>T (p.Leu407=)	not provided [RCV000917660]	likely benign	1	180834958	180834958	Human		name
15193842	CV745871	single nucleotide variant	NM_004736.4(XPR1):c.1683T>C (p.Cys561=)	not provided [RCV000910953]	likely benign	1	180873817	180873817	Human		name
15123635	CV745872	single nucleotide variant	NM_004736.4(XPR1):c.1731C>T (p.Ile577=)	not provided [RCV000918856]	likely benign	1	180873865	180873865	Human		name
15136522	CV745873	single nucleotide variant	NM_004736.4(XPR1):c.1887C>A (p.Ile629=)	Basal ganglia calcification, idiopathic, 6 [RCV002495538]\|not provided [RCV000921024]	likely benign	1	180880154	180880154	Human	1	name
15101059	CV745874	single nucleotide variant	NM_004736.4(XPR1):c.1950T>C (p.Asp650=)	not provided [RCV000914713]	likely benign	1	180880217	180880217	Human		name
15144704	CV745875	single nucleotide variant	NM_004736.4(XPR1):c.1998C>T (p.Ser666=)	not provided [RCV000922414]	likely benign	1	180880265	180880265	Human		name
15171401	CV761359	single nucleotide variant	NM_004736.4(XPR1):c.1824C>T (p.Asn608=)	not provided [RCV000927898]	benign	1	180880091	180880091	Human		name
15132181	CV780385	single nucleotide variant	NM_004736.4(XPR1):c.1578C>T (p.Leu526=)	not provided [RCV000981337]	likely benign	1	180863784	180863784	Human		name
150549265	CV1295062	single nucleotide variant	NM_004736.4(XPR1):c.395A>C (p.Lys132Thr)	not provided [RCV001765023]	uncertain significance	1	180803559	180803559	Human		name
150553016	CV1298024	single nucleotide variant	NM_004736.4(XPR1):c.526C>T (p.Arg176Ter)	not provided [RCV001768637]\|not specified [RCV004782779]	uncertain significance	1	180806140	180806140	Human		name
150527988	CV1301007	single nucleotide variant	NM_004736.4(XPR1):c.416A>C (p.Tyr139Ser)	not provided [RCV001754867]	uncertain significance	1	180803580	180803580	Human		name
151724390	CV1350822	single nucleotide variant	NM_004736.4(XPR1):c.665C>G (p.Pro222Arg)	not provided [RCV001891539]\|not specified [RCV004699535]	uncertain significance	1	180806541	180806541	Human		name
151790900	CV1389188	single nucleotide variant	NM_004736.4(XPR1):c.512G>A (p.Arg171His)	not provided [RCV002010695]	uncertain significance	1	180806126	180806126	Human		name
151839498	CV1391222	single nucleotide variant	NM_004736.4(XPR1):c.562T>G (p.Cys188Gly)	not provided [RCV001977516]	uncertain significance	1	180806176	180806176	Human		name
152049313	CV1657019	single nucleotide variant	NM_004736.4(XPR1):c.304A>G (p.Thr102Ala)	not provided [RCV002189203]	likely benign	1	180803468	180803468	Human		name
155749369	CV1773476	single nucleotide variant	NM_004736.4(XPR1):c.320T>G (p.Leu107Arg)	not provided [RCV002304577]	uncertain significance	1	180803484	180803484	Human		name
155733485	CV1774335	single nucleotide variant	NM_004736.4(XPR1):c.735T>G (p.Ile245Met)	not provided [RCV002301806]	uncertain significance	1	180811460	180811460	Human		name
155742137	CV1777206	single nucleotide variant	NM_004736.4(XPR1):c.760G>A (p.Ala254Thr)	not provided [RCV002302890]	uncertain significance	1	180811485	180811485	Human		name
155690793	CV1777957	single nucleotide variant	NM_004736.4(XPR1):c.517G>A (p.Ala173Thr)	not provided [RCV002299279]	uncertain significance	1	180806131	180806131	Human		name
155803274	CV1858027	single nucleotide variant	NM_004736.4(XPR1):c.608C>T (p.Thr203Ile)	not provided [RCV002461877]	uncertain significance	1	180806484	180806484	Human		name
10046778	CV190096	single nucleotide variant	NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)	Basal ganglia calcification, idiopathic, 6 [RCV000172879]	pathogenic	1	180803598	180803598	Human	1	name
10046779	CV190097	single nucleotide variant	NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)	Basal ganglia calcification, idiopathic, 6 [RCV000172880]	pathogenic	1	180803571	180803571	Human	1	name
10046780	CV190098	single nucleotide variant	NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)	Basal ganglia calcification, idiopathic, 6 [RCV000172881]	pathogenic	1	180803583	180803583	Human	1	name
10046781	CV190099	single nucleotide variant	NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)	Basal ganglia calcification, idiopathic, 6 [RCV000172882]	pathogenic	1	180806529	180806529	Human	1	name
155949176	CV1935951	single nucleotide variant	NM_004736.4(XPR1):c.854T>G (p.Leu285Arg)	not provided [RCV002511603]	uncertain significance	1	180824843	180824843	Human		name
156265186	CV1977718	single nucleotide variant	NM_004736.4(XPR1):c.772A>C (p.Lys258Gln)	not provided [RCV002597912]	uncertain significance	1	180824761	180824761	Human		name
156303684	CV2166751	single nucleotide variant	NM_004736.4(XPR1):c.815A>G (p.Tyr272Cys)	not provided [RCV003045672]	uncertain significance	1	180824804	180824804	Human		name
156264970	CV2289995	single nucleotide variant	NM_004736.4(XPR1):c.398T>A (p.Leu133Gln)	Inborn genetic diseases [RCV002855662]	uncertain significance	1	180803562	180803562	Human	1	name
156063748	CV2315989	single nucleotide variant	NM_004736.4(XPR1):c.537C>G (p.His179Gln)	Inborn genetic diseases [RCV002911946]	uncertain significance	1	180806151	180806151	Human	1	name
243053452	CV2418577	single nucleotide variant	NM_004736.4(XPR1):c.515G>A (p.Gly172Glu)	not provided [RCV003154179]	uncertain significance	1	180806129	180806129	Human		name
401798898	CV2742667	single nucleotide variant	NM_004736.4(XPR1):c.605T>G (p.Val202Gly)	not provided [RCV003325112]	uncertain significance	1	180806481	180806481	Human		name
401828087	CV2744457	single nucleotide variant	NM_004736.4(XPR1):c.421A>G (p.Ser141Gly)	not provided [RCV003327854]	uncertain significance	1	180803585	180803585	Human		name
401866360	CV2775518	single nucleotide variant	NM_004736.4(XPR1):c.575A>C (p.Asn192Thr)	Inborn genetic diseases [RCV003359973]	uncertain significance	1	180806189	180806189	Human	1	name
401881813	CV2784836	single nucleotide variant	NM_004736.4(XPR1):c.317C>T (p.Thr106Met)	Inborn genetic diseases [RCV003365070]	uncertain significance	1	180803481	180803481	Human	1	name
405126875	CV2882942	single nucleotide variant	NM_004736.4(XPR1):c.766G>A (p.Val256Ile)	not provided [RCV003559653]	uncertain significance	1	180824755	180824755	Human		name
405125915	CV3017276	single nucleotide variant	NM_004736.4(XPR1):c.509C>T (p.Ser170Phe)	not provided [RCV003701233]	uncertain significance	1	180806123	180806123	Human		name
405180584	CV3119868	single nucleotide variant	NM_004736.4(XPR1):c.328C>T (p.Arg110Cys)	Inborn genetic diseases [RCV004676298]\|not provided [RCV003819961]	uncertain significance	1	180803492	180803492	Human	1	name
405710349	CV3225762	single nucleotide variant	NM_004736.4(XPR1):c.863A>G (p.Asn288Ser)	Basal ganglia calcification, idiopathic, 6 [RCV003990820]	likely pathogenic	1	180824852	180824852	Human	1	name
596942642	CV3544076	single nucleotide variant	NM_004736.4(XPR1):c.929A>G (p.Asn310Ser)	not specified [RCV004800066]	uncertain significance	1	180824918	180824918	Human		name
597631546	CV3630447	single nucleotide variant	NM_004736.4(XPR1):c.785A>C (p.Asp262Ala)	Inborn genetic diseases [RCV004967570]	uncertain significance	1	180824774	180824774	Human	1	name
597887328	CV3787533	single nucleotide variant	NM_004736.4(XPR1):c.530T>G (p.Val177Gly)	not provided [RCV005125099]	uncertain significance	1	180806144	180806144	Human		name
598129205	CV3888498	single nucleotide variant	NM_004736.4(XPR1):c.592A>C (p.Thr198Pro)	not provided [RCV005244672]	uncertain significance	1	180806206	180806206	Human		name
598241588	CV3933763	single nucleotide variant	NM_004736.4(XPR1):c.736G>A (p.Val246Ile)	Inborn genetic diseases [RCV005296956]	uncertain significance	1	180811461	180811461	Human	1	name
21072169	CV794504	single nucleotide variant	NM_004736.4(XPR1):c.544G>C (p.Val182Leu)	not provided [RCV000994202]	uncertain significance	1	180806158	180806158	Human		name
126918189	CV1039629	single nucleotide variant	NM_004736.4(XPR1):c.1139G>A (p.Arg380Gln)	not provided [RCV001361583]	uncertain significance	1	180834878	180834878	Human		name
150429439	CV1189188	single nucleotide variant	NM_004736.4(XPR1):c.1811G>A (p.Arg604Gln)	Basal ganglia calcification, idiopathic, 6 [RCV003336418]\|XPR1-related primary familial brain calcification [RCV001563609]	uncertain significance	1	180880078	180880078	Human	1	name , trait
150407013	CV1199876	single nucleotide variant	NM_004736.4(XPR1):c.2009G>A (p.Arg670His)	Inborn genetic diseases [RCV002573252]\|not provided [RCV001579608]\|not specified [RCV005237919]	likely benign\|uncertain significance	1	180880276	180880276	Human	1	name
150554240	CV1296645	single nucleotide variant	NM_004736.4(XPR1):c.1072T>C (p.Phe358Leu)	not provided [RCV001770882]	uncertain significance	1	180825282	180825282	Human		name
151821638	CV1354979	single nucleotide variant	NM_004736.4(XPR1):c.1631A>G (p.Asn544Ser)	not provided [RCV001934202]	uncertain significance	1	180863837	180863837	Human		name
151849392	CV1368346	single nucleotide variant	NM_004736.4(XPR1):c.1522A>G (p.Met508Val)	Inborn genetic diseases [RCV005301022]\|not provided [RCV001978719]	uncertain significance	1	180863728	180863728	Human	1	name
151772486	CV1427614	single nucleotide variant	NM_004736.4(XPR1):c.1158C>G (p.Phe386Leu)	Basal ganglia calcification, idiopathic, 6 [RCV004558715]\|not provided [RCV001915118]	uncertain significance	1	180834897	180834897	Human	1	name
151786880	CV1490258	single nucleotide variant	NM_004736.4(XPR1):c.2057T>C (p.Leu686Ser)	not provided [RCV001931003]	uncertain significance	1	180884032	180884032	Human		name
151892671	CV1493868	single nucleotide variant	NM_004736.4(XPR1):c.1958G>A (p.Arg653Gln)	not provided [RCV001944360]	uncertain significance	1	180880225	180880225	Human		name
151753171	CV1508636	single nucleotide variant	NM_004736.4(XPR1):c.1963C>G (p.Arg655Gly)	not provided [RCV001986500]	uncertain significance	1	180880230	180880230	Human		name
151811031	CV1516655	single nucleotide variant	NM_004736.4(XPR1):c.1581C>G (p.Ile527Met)	Inborn genetic diseases [RCV004045373]\|not provided [RCV002012435]	uncertain significance	1	180863787	180863787	Human	1	name
152048622	CV1615695	single nucleotide variant	NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)	See cases [RCV002252772]\|not provided [RCV002166574]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	180880242	180880242	Human		name
155644740	CV1710370	single nucleotide variant	NM_004736.4(XPR1):c.1408A>G (p.Thr470Ala)	not provided [RCV002293666]	uncertain significance	1	180836623	180836623	Human		name
156293272	CV1908161	single nucleotide variant	NM_004736.4(XPR1):c.1330A>G (p.Thr444Ala)	not provided [RCV002598842]	uncertain significance	1	180836545	180836545	Human		name
156023179	CV1922097	single nucleotide variant	NM_004736.4(XPR1):c.2074G>A (p.Asp692Asn)	not provided [RCV002636807]\|not specified [RCV003479482]	uncertain significance	1	180884049	180884049	Human		name
156344148	CV1981759	single nucleotide variant	NM_004736.4(XPR1):c.1976G>A (p.Arg659Gln)	not provided [RCV002631588]	uncertain significance	1	180880243	180880243	Human		name
156400957	CV1982318	single nucleotide variant	NM_004736.4(XPR1):c.1271A>G (p.Asp424Gly)	not provided [RCV002635963]	uncertain significance	1	180835010	180835010	Human		name
156415958	CV1983832	single nucleotide variant	NM_004736.4(XPR1):c.2008C>T (p.Arg670Cys)	not provided [RCV002609925]	uncertain significance	1	180880275	180880275	Human		name
156015119	CV1986280	single nucleotide variant	NM_004736.4(XPR1):c.1514C>T (p.Ser505Leu)	Inborn genetic diseases [RCV004966007]\|not provided [RCV002636425]	uncertain significance	1	180863720	180863720	Human	1	name
156146079	CV2002987	single nucleotide variant	NM_004736.4(XPR1):c.1715C>T (p.Ala572Val)	Inborn genetic diseases [RCV004966032]\|not provided [RCV002663744]	uncertain significance	1	180873849	180873849	Human	1	name
156366039	CV2020900	single nucleotide variant	NM_004736.4(XPR1):c.1266A>C (p.Lys422Asn)	not provided [RCV002721190]	uncertain significance	1	180835005	180835005	Human		name
156105724	CV2038494	single nucleotide variant	NM_004736.4(XPR1):c.2042G>A (p.Arg681His)	not provided [RCV002761485]	uncertain significance	1	180884017	180884017	Human		name
156130390	CV2072968	single nucleotide variant	NM_004736.4(XPR1):c.1355A>G (p.Gln452Arg)	not provided [RCV002825650]	uncertain significance	1	180836570	180836570	Human		name
156000804	CV2074609	single nucleotide variant	NM_004736.4(XPR1):c.1748C>T (p.Thr583Ile)	not provided [RCV002843395]	uncertain significance	1	180873882	180873882	Human		name
156137192	CV2105899	single nucleotide variant	NM_004736.4(XPR1):c.2000T>C (p.Ile667Thr)	not provided [RCV002914769]	uncertain significance	1	180880267	180880267	Human		name
156306699	CV2115639	single nucleotide variant	NM_004736.4(XPR1):c.1964G>A (p.Arg655His)	Basal ganglia calcification, idiopathic, 6 [RCV005010786]\|not provided [RCV002922854]	uncertain significance	1	180880231	180880231	Human	1	name
156186403	CV2164170	single nucleotide variant	NM_004736.4(XPR1):c.1094C>T (p.Thr365Ile)	not provided [RCV003023992]	uncertain significance	1	180825304	180825304	Human		name
156191903	CV2171271	single nucleotide variant	NM_004736.4(XPR1):c.1491C>A (p.Ser497Arg)	not provided [RCV003024159]	uncertain significance	1	180836706	180836706	Human		name
156138935	CV2250352	single nucleotide variant	NM_004736.4(XPR1):c.1906G>A (p.Ala636Thr)	Inborn genetic diseases [RCV002826063]	uncertain significance	1	180880173	180880173	Human	1	name
329399363	CV2470062	single nucleotide variant	NM_004736.4(XPR1):c.1655T>C (p.Val552Ala)	Inborn genetic diseases [RCV003220890]	uncertain significance	1	180863861	180863861	Human	1	name
329399031	CV2471859	single nucleotide variant	NM_004736.4(XPR1):c.1696G>A (p.Asp566Asn)	Inborn genetic diseases [RCV003220740]	uncertain significance	1	180873830	180873830	Human	1	name
329955321	CV2671265	single nucleotide variant	NM_004736.4(XPR1):c.1213G>A (p.Val405Met)	not specified [RCV003236541]	uncertain significance	1	180834952	180834952	Human		name
401761733	CV2713869	single nucleotide variant	NM_004736.4(XPR1):c.1082A>G (p.Asn361Ser)	Inborn genetic diseases [RCV003257659]	uncertain significance	1	180825292	180825292	Human	1	name
401828103	CV2744473	single nucleotide variant	NM_004736.4(XPR1):c.1780A>G (p.Thr594Ala)	Inborn genetic diseases [RCV004963615]\|not provided [RCV003327870]	uncertain significance	1	180873914	180873914	Human	1	name
401875485	CV2789066	single nucleotide variant	NM_004736.4(XPR1):c.1084C>G (p.Pro362Ala)	Inborn genetic diseases [RCV003383066]	uncertain significance	1	180825294	180825294	Human	1	name
402495811	CV2875239	single nucleotide variant	NM_004736.4(XPR1):c.1257G>C (p.Leu419Phe)	not provided [RCV003545401]	uncertain significance	1	180834996	180834996	Human		name
402503312	CV2879831	single nucleotide variant	NM_004736.4(XPR1):c.2048C>G (p.Thr683Ser)	not provided [RCV003546129]	uncertain significance	1	180884023	180884023	Human		name
405002314	CV3006488	single nucleotide variant	NM_004736.4(XPR1):c.1630A>G (p.Asn544Asp)	not provided [RCV003693296]	uncertain significance	1	180863836	180863836	Human		name
405196077	CV3146578	single nucleotide variant	NM_004736.4(XPR1):c.2050A>G (p.Lys684Glu)	not provided [RCV003843933]	uncertain significance	1	180884025	180884025	Human		name
405169701	CV3156952	single nucleotide variant	NM_004736.4(XPR1):c.1751T>C (p.Leu584Ser)	not provided [RCV003857656]	uncertain significance	1	180873885	180873885	Human		name
405666902	CV3349639	single nucleotide variant	NM_004736.4(XPR1):c.1292C>T (p.Pro431Leu)	Inborn genetic diseases [RCV004485666]	uncertain significance	1	180835031	180835031	Human	1	name
407456061	CV3493650	single nucleotide variant	NM_004736.4(XPR1):c.2012G>A (p.Arg671Gln)	Inborn genetic diseases [RCV004685809]\|not provided [RCV005059753]	uncertain significance	1	180880279	180880279	Human	1	name
407465656	CV3493651	single nucleotide variant	NM_004736.4(XPR1):c.1012C>T (p.Pro338Ser)	Inborn genetic diseases [RCV004688828]	uncertain significance	1	180825222	180825222	Human	1	name
407465659	CV3493652	single nucleotide variant	NM_004736.4(XPR1):c.1243T>C (p.Cys415Arg)	Inborn genetic diseases [RCV004688829]	uncertain significance	1	180834982	180834982	Human	1	name
407465662	CV3493653	single nucleotide variant	NM_004736.4(XPR1):c.1119G>T (p.Trp373Cys)	Inborn genetic diseases [RCV004688830]	uncertain significance	1	180825329	180825329	Human	1	name
407508846	CV3496409	single nucleotide variant	NM_004736.4(XPR1):c.1375C>T (p.Arg459Cys)	not provided [RCV004698250]	likely pathogenic	1	180836590	180836590	Human		name
596932763	CV3539390	single nucleotide variant	NM_004736.4(XPR1):c.1325A>G (p.Lys442Arg)	not provided [RCV004794014]	uncertain significance	1	180836540	180836540	Human		name
597631548	CV3630446	single nucleotide variant	NM_004736.4(XPR1):c.1691T>C (p.Ile564Thr)	Inborn genetic diseases [RCV004967569]	uncertain significance	1	180873825	180873825	Human	1	name
597631544	CV3630449	single nucleotide variant	NM_004736.4(XPR1):c.2047A>T (p.Thr683Ser)	Inborn genetic diseases [RCV004967571]	uncertain significance	1	180884022	180884022	Human	1	name
597631541	CV3630450	single nucleotide variant	NM_004736.4(XPR1):c.1954G>T (p.Val652Leu)	Inborn genetic diseases [RCV004967572]	uncertain significance	1	180880221	180880221	Human	1	name
597631540	CV3630451	single nucleotide variant	NM_004736.4(XPR1):c.1729A>G (p.Ile577Val)	Inborn genetic diseases [RCV004967573]	uncertain significance	1	180873863	180873863	Human	1	name
597631537	CV3630452	single nucleotide variant	NM_004736.4(XPR1):c.1831C>G (p.Arg611Gly)	Inborn genetic diseases [RCV004967574]	uncertain significance	1	180880098	180880098	Human	1	name
597631536	CV3630453	single nucleotide variant	NM_004736.4(XPR1):c.1507G>A (p.Gly503Ser)	Inborn genetic diseases [RCV004967575]	uncertain significance	1	180863713	180863713	Human	1	name
597660038	CV3731776	single nucleotide variant	NM_004736.4(XPR1):c.1229T>A (p.Leu410Gln)	Basal ganglia calcification, idiopathic, 6 [RCV005001951]	uncertain significance	1	180834968	180834968	Human	1	name
597891821	CV3763058	single nucleotide variant	NM_004736.4(XPR1):c.1061T>G (p.Phe354Cys)	not provided [RCV005110831]	uncertain significance	1	180825271	180825271	Human		name
597972916	CV3790819	single nucleotide variant	NM_004736.4(XPR1):c.1239G>T (p.Met413Ile)	not provided [RCV005143034]	uncertain significance	1	180834978	180834978	Human		name
597946017	CV3807453	single nucleotide variant	NM_004736.4(XPR1):c.2053G>A (p.Val685Ile)	not provided [RCV005160088]	uncertain significance	1	180884028	180884028	Human		name
597839942	CV3825229	single nucleotide variant	NM_004736.4(XPR1):c.1935G>A (p.Met645Ile)	not provided [RCV005171912]	uncertain significance	1	180880202	180880202	Human		name
597928383	CV3851778	single nucleotide variant	NM_004736.4(XPR1):c.1972A>T (p.Asn658Tyr)	not provided [RCV005206246]	uncertain significance	1	180880239	180880239	Human		name
598125599	CV3885832	single nucleotide variant	NM_004736.4(XPR1):c.1387T>G (p.Cys463Gly)	not provided [RCV005241635]	uncertain significance	1	180836602	180836602	Human		name
598205002	CV3896768	single nucleotide variant	NM_004736.4(XPR1):c.2041C>T (p.Arg681Cys)	Basal ganglia calcification, idiopathic, 6 [RCV005356949]	uncertain significance	1	180884016	180884016	Human	1	name
598241592	CV3933764	single nucleotide variant	NM_004736.4(XPR1):c.2031A>T (p.Gln677His)	Inborn genetic diseases [RCV005296957]	uncertain significance	1	180884006	180884006	Human	1	name
616933625	CV4011581	single nucleotide variant	NM_004736.4(XPR1):c.1159C>A (p.His387Asn)	not specified [RCV005408129]	uncertain significance	1	180834898	180834898	Human		name
616937991	CV4013838	single nucleotide variant	NM_004736.4(XPR1):c.2003C>G (p.Ser668Cys)	Basal ganglia calcification, idiopathic, 6 [RCV005413330]	uncertain significance	1	180880270	180880270	Human	1	name
13705560	CV536570	single nucleotide variant	NM_004736.4(XPR1):c.1112G>A (p.Arg371Gln)	not provided [RCV000658117]	uncertain significance	1	180825322	180825322	Human		name
14695899	CV622307	single nucleotide variant	NM_004736.4(XPR1):c.1954G>A (p.Val652Ile)	Basal ganglia calcification, idiopathic, 6 [RCV000785114]\|not provided [RCV003708553]	uncertain significance	1	180880221	180880221	Human	1	name
15169507	CV696300	single nucleotide variant	NM_004736.4(XPR1):c.1723A>G (p.Ile575Val)	XPR1-related disorder [RCV004757340]\|not provided [RCV000949470]	benign\|likely benign	1	180873857	180873857	Human	1	name , trait , alternate_id
15146608	CV731902	single nucleotide variant	NM_004736.4(XPR1):c.2023G>A (p.Ala675Thr)	Inborn genetic diseases [RCV002537535]\|not provided [RCV000900356]	benign\|likely benign\|uncertain significance	1	180880290	180880290	Human	1	name
39456952	CV966223	single nucleotide variant	NM_004736.4(XPR1):c.1093A>T (p.Thr365Ser)	Basal ganglia calcification, idiopathic, 6 [RCV004799407]	uncertain significance	1	180825303	180825303	Human	1	name
40815323	CV970666	single nucleotide variant	NM_004736.4(XPR1):c.2018G>A (p.Arg673His)	Basal ganglia calcification, idiopathic, 6 [RCV001262640]\|not provided [RCV002541596]	uncertain significance	1	180880285	180880285	Human	1	name
405076984	CV2869590	deletion	NM_004736.4(XPR1):c.1746_1751del (p.Thr583_Leu584del)	not provided [RCV003548874]	uncertain significance	1	180873880	180873885	Human		name

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