Dpyd Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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563 records found for search term Dpyd

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8646489	CV94527	single nucleotide variant	DPYD:c.1905+1G>A	not provided [RCV000086468]	not provided	1	97450058	97450058	Human		name
8646489	CV94527	single nucleotide variant	DPYD:c.1905+1G>A	not provided [RCV000086468]	not provided	1	97450058	97450059	Human		name
8555631	CV15475	deletion	DPYD, 1-BP DEL, 1897C	Dihydropyrimidine dehydrogenase deficiency [RCV000000465]	pathogenic				Human	1	name , alternate_id
8555630	CV15473	deletion	DPYD, 4-BP DEL, 296TCAT	Dihydropyrimidine dehydrogenase deficiency [RCV000000463]	pathogenic				Human	1	name , alternate_id
8646463	CV105938	single nucleotide variant	NM_000110.4(DPYD):c.*961A>G	not provided [RCV000086442]	not provided	1	97078015	97078015	Human		name
8646464	CV105939	single nucleotide variant	NM_000110.4(DPYD):c.*911A>G	not provided [RCV000086443]	not provided	1	97078065	97078065	Human		name
8646465	CV105940	single nucleotide variant	NM_000110.4(DPYD):c.*900T>C	Dihydropyrimidine dehydrogenase deficiency [RCV000324600]\|not provided [RCV000086444]	likely benign\|uncertain significance\|not provided	1	97078076	97078076	Human	2	name , alternate_id
8646466	CV105941	single nucleotide variant	NM_000110.4(DPYD):c.*780C>T	Dihydropyrimidine dehydrogenase deficiency [RCV000320911]\|not provided [RCV000086445]	benign\|likely benign\|not provided	1	97078196	97078196	Human	2	name , alternate_id
8646467	CV105942	single nucleotide variant	NM_000110.4(DPYD):c.*768G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000384818]\|not provided [RCV000086446]	benign\|not provided	1	97078208	97078208	Human	2	name , alternate_id
8646468	CV105943	single nucleotide variant	NM_000110.4(DPYD):c.*736A>T	not provided [RCV000086447]	not provided	1	97078240	97078240	Human		name
8646469	CV105944	single nucleotide variant	NM_000110.4(DPYD):c.*573G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000381756]\|not provided [RCV000086448]	benign\|likely benign\|not provided	1	97078403	97078403	Human	2	name , alternate_id
8646470	CV105945	single nucleotide variant	NM_000110.4(DPYD):c.*173T>C	not provided [RCV000086449]	not provided	1	97078803	97078803	Human		name
243056564	CV2418740	single nucleotide variant	NM_000110.4(DPYD):c.39+4C>G	not specified [RCV003155707]	uncertain significance	1	97920880	97920880	Human		name
11657933	CV282007	single nucleotide variant	NM_000110.4(DPYD):c.*586C>T	Dihydropyrimidine dehydrogenase deficiency [RCV000345431]	uncertain significance	1	97078390	97078390	Human	2	name , alternate_id
11660527	CV282054	single nucleotide variant	NM_000110.4(DPYD):c.-108T>C	Dihydropyrimidine dehydrogenase deficiency [RCV000368032]	uncertain significance	1	97921030	97921030	Human	2	name , alternate_id
11583357	CV283300	single nucleotide variant	NM_000110.4(DPYD):c.*783G>T	Dihydropyrimidine dehydrogenase deficiency [RCV000265933]	uncertain significance	1	97078193	97078193	Human	2	name , alternate_id
11658748	CV283305	single nucleotide variant	NM_000110.4(DPYD):c.*282A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000351688]	uncertain significance	1	97078694	97078694	Human	2	name , alternate_id
11657111	CV283337	single nucleotide variant	NM_000110.4(DPYD):c.*193A>C	Dihydropyrimidine dehydrogenase deficiency [RCV000338881]	uncertain significance	1	97078783	97078783	Human	2	name , alternate_id
11578067	CV283359	single nucleotide variant	NM_000110.4(DPYD):c.-112A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000273493]	uncertain significance	1	97921034	97921034	Human	2	name , alternate_id
11661685	CV283444	single nucleotide variant	NM_000110.4(DPYD):c.*852C>T	Dihydropyrimidine dehydrogenase deficiency [RCV000379109]	uncertain significance	1	97078124	97078124	Human	2	name , alternate_id
11649964	CV283446	single nucleotide variant	NM_000110.4(DPYD):c.*665G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000290469]	uncertain significance	1	97078311	97078311	Human	2	name , alternate_id
11587625	CV283449	single nucleotide variant	NM_000110.4(DPYD):c.*432T>A	Dihydropyrimidine dehydrogenase deficiency [RCV000296715]	uncertain significance	1	97078544	97078544	Human	2	name , alternate_id
11597629	CV283459	single nucleotide variant	NM_000110.4(DPYD):c.*274T>C	Dihydropyrimidine dehydrogenase deficiency [RCV000396249]\|not provided [RCV001642920]	benign\|likely benign	1	97078702	97078702	Human	2	name , alternate_id
11650482	CV283490	single nucleotide variant	NM_000110.4(DPYD):c.*242G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000293285]	uncertain significance	1	97078734	97078734	Human	2	name , alternate_id
28886462	CV864887	single nucleotide variant	NM_000110.4(DPYD):c.*673G>A	Dihydropyrimidine dehydrogenase deficiency [RCV001098468]	uncertain significance	1	97078303	97078303	Human	2	name , alternate_id
28886468	CV864888	single nucleotide variant	NM_000110.4(DPYD):c.*635T>A	Dihydropyrimidine dehydrogenase deficiency [RCV001098469]	uncertain significance	1	97078341	97078341	Human	2	name , alternate_id
28886472	CV864889	single nucleotide variant	NM_000110.4(DPYD):c.*626G>A	Dihydropyrimidine dehydrogenase deficiency [RCV001098470]	uncertain significance	1	97078350	97078350	Human	2	name , alternate_id
28886478	CV864890	single nucleotide variant	NM_000110.4(DPYD):c.*503A>T	Dihydropyrimidine dehydrogenase deficiency [RCV001098471]	uncertain significance	1	97078473	97078473	Human	2	name , alternate_id
28891579	CV864891	single nucleotide variant	NM_000110.4(DPYD):c.*476G>A	Dihydropyrimidine dehydrogenase deficiency [RCV001100237]	uncertain significance	1	97078500	97078500	Human	2	name , alternate_id
28891585	CV864892	single nucleotide variant	NM_000110.4(DPYD):c.*458T>A	Dihydropyrimidine dehydrogenase deficiency [RCV001100238]	uncertain significance	1	97078518	97078518	Human	2	name , alternate_id
28891588	CV864893	single nucleotide variant	NM_000110.4(DPYD):c.*416C>A	Dihydropyrimidine dehydrogenase deficiency [RCV001100239]	uncertain significance	1	97078560	97078560	Human	2	name , alternate_id
28891592	CV864894	single nucleotide variant	NM_000110.4(DPYD):c.*390A>G	Dihydropyrimidine dehydrogenase deficiency [RCV001100240]	uncertain significance	1	97078586	97078586	Human	2	name , alternate_id
28896488	CV864895	single nucleotide variant	NM_000110.4(DPYD):c.*159A>G	Dihydropyrimidine dehydrogenase deficiency [RCV001102223]	uncertain significance	1	97078817	97078817	Human	2	name , alternate_id
28909355	CV868427	single nucleotide variant	NM_000110.3(DPYD):c.-144C>T	Dihydropyrimidine dehydrogenase deficiency [RCV001108323]\|not provided [RCV004691378]	uncertain significance	1	97921066	97921066	Human	2	name , alternate_id
126736589	CV1019442	single nucleotide variant	NM_000110.4(DPYD):c.484-5C>T	Dihydropyrimidine dehydrogenase deficiency [RCV001335116]	uncertain significance	1	97699552	97699552	Human	2	name , alternate_id
126736583	CV1019443	single nucleotide variant	NM_000110.4(DPYD):c.151-2A>C	Dihydropyrimidine dehydrogenase deficiency [RCV001335115]	pathogenic	1	97828198	97828198	Human	2	name , alternate_id
155929287	CV2356745	single nucleotide variant	NM_000110.4(DPYD):c.484-4G>A	Inborn genetic diseases [RCV002970474]\|not provided [RCV005233115]	likely benign\|uncertain significance	1	97699551	97699551	Human	1	name
243055292	CV2407278	single nucleotide variant	NM_000110.4(DPYD):c.321+1G>A	DPYD-related disorder [RCV003427697]\|Dihydropyrimidine dehydrogenase deficiency [RCV003144828]\|not provided [RCV004719312]	pathogenic\|likely pathogenic\|uncertain significance	1	97740391	97740391	Human	2	name , trait , alternate_id
401940727	CV2834195	single nucleotide variant	NM_000110.4(DPYD):c.484-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV003459991]	likely pathogenic	1	97699549	97699549	Human	2	name , alternate_id
401941902	CV2834209	single nucleotide variant	NM_000110.4(DPYD):c.958+2T>C	Dihydropyrimidine dehydrogenase deficiency [RCV003467848]	likely pathogenic	1	97595057	97595057	Human	2	name , alternate_id
401941907	CV2834213	single nucleotide variant	NM_000110.4(DPYD):c.680+1G>T	Dihydropyrimidine dehydrogenase deficiency [RCV003467850]	likely pathogenic	1	97699350	97699350	Human	2	name , alternate_id
401941794	CV2834220	single nucleotide variant	NM_000110.4(DPYD):c.959-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV003467855]	likely pathogenic	1	97593389	97593389	Human	2	name , alternate_id
401940734	CV2834224	single nucleotide variant	NM_000110.4(DPYD):c.484-1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV003459998]	likely pathogenic	1	97699548	97699548	Human	2	name , alternate_id
11582482	CV283443	single nucleotide variant	NM_000110.4(DPYD):c.*1046C>A	Dihydropyrimidine dehydrogenase deficiency [RCV000260079]	uncertain significance	1	97077930	97077930	Human	2	name , alternate_id
405873027	CV3400342	single nucleotide variant	NM_000110.4(DPYD):c.763-1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV004575849]	likely pathogenic	1	97679183	97679183	Human	2	name , alternate_id
596922094	CV3529623	single nucleotide variant	NM_000110.4(DPYD):c.321+2T>C	Dihydropyrimidine dehydrogenase deficiency [RCV004776499]	likely pathogenic	1	97740390	97740390	Human	2	name , alternate_id
12739394	CV357175	single nucleotide variant	NM_000110.4(DPYD):c.851-1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV000409515]	likely pathogenic	1	97595167	97595167	Human	2	name , alternate_id
12739580	CV357176	single nucleotide variant	NM_000110.4(DPYD):c.762+2T>C	Dihydropyrimidine dehydrogenase deficiency [RCV000409929]	likely pathogenic	1	97691715	97691715	Human	2	name , alternate_id
12738560	CV357177	single nucleotide variant	NM_000110.4(DPYD):c.680+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000409534]	likely pathogenic	1	97699350	97699350	Human	2	name , alternate_id
12739958	CV357180	single nucleotide variant	NM_000110.4(DPYD):c.483+1G>T	Dihydropyrimidine dehydrogenase deficiency [RCV000410851]	likely pathogenic	1	97721509	97721509	Human	2	name , alternate_id
12739449	CV357181	single nucleotide variant	NM_000110.4(DPYD):c.322-1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV000409647]	likely pathogenic	1	97721672	97721672	Human	2	name , alternate_id
12739991	CV357185	single nucleotide variant	NM_000110.4(DPYD):c.150+2T>A	Dihydropyrimidine dehydrogenase deficiency [RCV000410919]	likely pathogenic	1	97883262	97883262	Human	2	name , alternate_id
13791665	CV541354	single nucleotide variant	NM_000110.4(DPYD):c.763-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000667742]	pathogenic\|likely pathogenic	1	97679184	97679184	Human	2	name , alternate_id
13783264	CV541415	single nucleotide variant	NM_000110.4(DPYD):c.233+1G>T	Dihydropyrimidine dehydrogenase deficiency [RCV000669906]	likely pathogenic	1	97828113	97828113	Human	2	name , alternate_id
13809348	CV576559	single nucleotide variant	NM_000110.4(DPYD):c.681-8C>T	DPYD-related disorder [RCV003907968]\|Dihydropyrimidine dehydrogenase deficiency [RCV001104936]\|not provided [RCV000711509]	benign\|likely benign	1	97691806	97691806	Human	2	name , trait , alternate_id
28896271	CV864881	single nucleotide variant	NM_000110.4(DPYD):c.*1189G>A	Dihydropyrimidine dehydrogenase deficiency [RCV001102143]	uncertain significance	1	97077787	97077787	Human	2	name , alternate_id
28896275	CV864882	single nucleotide variant	NM_000110.4(DPYD):c.*1153A>G	Dihydropyrimidine dehydrogenase deficiency [RCV001102144]	uncertain significance	1	97077823	97077823	Human	2	name , alternate_id
28896278	CV864883	single nucleotide variant	NM_000110.4(DPYD):c.*1062A>G	Dihydropyrimidine dehydrogenase deficiency [RCV001102145]	uncertain significance	1	97077914	97077914	Human	2	name , alternate_id
28896282	CV864884	single nucleotide variant	NM_000110.4(DPYD):c.*1050A>T	Dihydropyrimidine dehydrogenase deficiency [RCV001102146]	uncertain significance	1	97077926	97077926	Human	2	name , alternate_id
28881046	CV864885	single nucleotide variant	NM_000110.4(DPYD):c.*1010T>G	Dihydropyrimidine dehydrogenase deficiency [RCV001096729]	uncertain significance	1	97077966	97077966	Human	2	name , alternate_id
28881049	CV864886	single nucleotide variant	NM_000110.4(DPYD):c.*1000A>G	Dihydropyrimidine dehydrogenase deficiency [RCV001096730]	uncertain significance	1	97077976	97077976	Human	2	name , alternate_id
28903045	CV868425	single nucleotide variant	NM_000110.4(DPYD):c.762+5A>T	Dihydropyrimidine dehydrogenase deficiency [RCV001104934]	uncertain significance	1	97691712	97691712	Human	2	name , alternate_id
28903055	CV868426	single nucleotide variant	NM_000110.4(DPYD):c.483+5G>A	Dihydropyrimidine dehydrogenase deficiency [RCV001104939]	uncertain significance	1	97721505	97721505	Human	2	name , alternate_id
8646508	CV105981	single nucleotide variant	NM_000110.4(DPYD):c.959-51T>C	not provided [RCV000086487]	not provided	1	97593438	97593438	Human		name
8646510	CV105983	single nucleotide variant	NM_000110.4(DPYD):c.958+36A>G	not provided [RCV000086489]	not provided	1	97595023	97595023	Human		name
8646513	CV105986	single nucleotide variant	NM_000110.4(DPYD):c.851-31C>T	not provided [RCV000086492]	benign\|not provided	1	97595197	97595197	Human		name
8646514	CV105987	single nucleotide variant	NM_000110.4(DPYD):c.850+90T>C	not provided [RCV000086493]	not provided	1	97679005	97679005	Human		name
8646515	CV105988	single nucleotide variant	NM_000110.4(DPYD):c.850+41T>C	not provided [RCV000086494]	benign\|not provided	1	97679054	97679054	Human		name
8646521	CV105994	single nucleotide variant	NM_000110.4(DPYD):c.483+18G>A	not provided [RCV000086500]\|not specified [RCV000253011]	benign\|not provided	1	97721492	97721492	Human		name
8646524	CV105997	single nucleotide variant	NM_000110.4(DPYD):c.234-81G>A	not provided [RCV000086503]	not provided	1	97740560	97740560	Human		name
8646525	CV105998	single nucleotide variant	NM_000110.4(DPYD):c.233+36T>C	not provided [RCV000086504]	not provided	1	97828078	97828078	Human		name
8646526	CV105999	single nucleotide variant	NM_000110.4(DPYD):c.151-69G>A	DPYD-related disorder [RCV003964962]\|not provided [RCV000086505]	benign\|likely benign\|not provided	1	97828265	97828265	Human	1	name , trait , alternate_id
8555629	CV15471	single nucleotide variant	NM_000110.4(DPYD):c.1905+1G>A	DPYD-related disorder [RCV005222656]\|Dihydropyrimidine dehydrogenase deficiency [RCV000000460]\|Fluorouracil response [RCV000030868]\|Hirschsprung disease, susceptibility to, 1 [RCV000201291]\|Inborn genetic diseases [RCV004018525]\|capecitabine response - Toxicity ... (more) [RCV001787360]\|fluorouracil response - Other [RCV001787359]\|fluorouracil response - Toxicity [RCV001787337]\|not provided [RCV000086468]\|tegafur response - Toxicity [RCV001787361]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	1	97450058	97450058	Human	5	name , trait , alternate_id
9686776	CV171330	single nucleotide variant	NM_000110.4(DPYD):c.1340-3C>G	Prostate cancer [RCV000148993]	uncertain significance	1	97549747	97549747	Human	2	name
156451173	CV2402557	single nucleotide variant	NM_000110.4(DPYD):c.2907+9C>G	not specified [RCV003123362]	uncertain significance	1	97082321	97082321	Human		name
401931814	CV2801805	single nucleotide variant	NM_000110.4(DPYD):c.1340-2A>C	DPYD-related disorder [RCV003391615]\|Dihydropyrimidine dehydrogenase deficiency [RCV003466077]	likely pathogenic	1	97549746	97549746	Human	2	name , trait , alternate_id
11578472	CV282025	single nucleotide variant	NM_000110.4(DPYD):c.1525-9A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000282171]	uncertain significance	1	97515950	97515950	Human	2	name , alternate_id
401947377	CV2834177	single nucleotide variant	NM_000110.4(DPYD):c.2766+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV003466230]	likely pathogenic	1	97098488	97098488	Human	2	name , alternate_id
401947393	CV2834189	single nucleotide variant	NM_000110.4(DPYD):c.2059-1G>T	Dihydropyrimidine dehydrogenase deficiency [RCV003466238]	likely pathogenic	1	97306298	97306298	Human	2	name , alternate_id
401947395	CV2834190	single nucleotide variant	NM_000110.4(DPYD):c.2442+1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV003466239]	likely pathogenic	1	97234851	97234851	Human	2	name , alternate_id
401940728	CV2834196	single nucleotide variant	NM_000110.4(DPYD):c.2299+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV003459992]	likely pathogenic	1	97305258	97305258	Human	2	name , alternate_id
401949719	CV2834199	single nucleotide variant	NM_000110.4(DPYD):c.1525-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV003475590]	likely pathogenic	1	97515943	97515943	Human	2	name , alternate_id
401941781	CV2834202	duplication	NM_000110.4(DPYD):c.1905+2dup	Dihydropyrimidine dehydrogenase deficiency [RCV003467842]	likely pathogenic	1	97450056	97450057	Human	2	name , alternate_id
401940733	CV2834217	single nucleotide variant	NM_000110.4(DPYD):c.2907+1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV003459997]	likely pathogenic	1	97082329	97082329	Human	2	name , alternate_id
401941790	CV2834218	single nucleotide variant	NM_000110.4(DPYD):c.2059-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV003467853]	likely pathogenic	1	97306299	97306299	Human	2	name , alternate_id
401941798	CV2834222	single nucleotide variant	NM_000110.4(DPYD):c.1525-1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV003467857]	likely pathogenic	1	97515942	97515942	Human	2	name , alternate_id
405873020	CV3400337	single nucleotide variant	NM_000110.4(DPYD):c.1340-1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV004575844]	likely pathogenic	1	97549745	97549745	Human	2	name , alternate_id
407573487	CV3499265	single nucleotide variant	NM_000110.4(DPYD):c.2442+5T>C	not specified [RCV004701159]	uncertain significance	1	97234847	97234847	Human		name
408377529	CV3501599	single nucleotide variant	NM_000110.4(DPYD):c.2300-1G>C	not provided [RCV004727657]	likely pathogenic	1	97234995	97234995	Human		name
596922093	CV3529622	single nucleotide variant	NM_000110.4(DPYD):c.1128+1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV004776498]	likely pathogenic	1	97593217	97593217	Human	2	name , alternate_id
596920837	CV3534298	single nucleotide variant	NM_000110.4(DPYD):c.1905+6T>A	not specified [RCV004783517]	uncertain significance	1	97450053	97450053	Human		name
12739859	CV357151	single nucleotide variant	NM_000110.4(DPYD):c.2622+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000410613]	pathogenic\|likely pathogenic	1	97193068	97193068	Human	2	name , alternate_id
12738776	CV357157	single nucleotide variant	NM_000110.4(DPYD):c.2058+1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV000412376]	likely pathogenic	1	97373560	97373560	Human	2	name , alternate_id
12740471	CV357166	single nucleotide variant	NM_000110.4(DPYD):c.1524+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000412072]	likely pathogenic	1	97549559	97549559	Human	2	name , alternate_id
12740320	CV357169	single nucleotide variant	NM_000110.4(DPYD):c.1340-2A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000411699]	likely pathogenic	1	97549746	97549746	Human	2	name , alternate_id
12740600	CV357170	single nucleotide variant	NM_000110.4(DPYD):c.1339+1G>T	Dihydropyrimidine dehydrogenase deficiency [RCV000412433]	likely pathogenic	1	97573759	97573759	Human	2	name , alternate_id
12791664	CV362495	single nucleotide variant	NM_000110.4(DPYD):c.1905+1G>C	Dihydropyrimidine dehydrogenase deficiency [RCV003123363]\|not provided [RCV003222484]	pathogenic\|likely pathogenic\|drug response	1	97450058	97450058	Human	2	name , alternate_id
12913620	CV421263	single nucleotide variant	NM_000110.4(DPYD):c.2767-1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV003470615]\|not provided [RCV000494044]	likely pathogenic	1	97082471	97082471	Human	2	name , alternate_id
13481531	CV442899	single nucleotide variant	NM_000110.4(DPYD):c.1974+1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV004701596]\|not provided [RCV000521535]	likely pathogenic\|uncertain significance	1	97382392	97382392	Human	2	name , alternate_id
13792123	CV541375	single nucleotide variant	NM_000110.4(DPYD):c.2908-1G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000668315]	uncertain significance	1	97079147	97079147	Human	2	name , alternate_id
14690553	CV621710	single nucleotide variant	NM_000110.4(DPYD):c.321+15A>C	not provided [RCV004691296]\|not specified [RCV000781326]	uncertain significance	1	97740377	97740377	Human		name
14741286	CV657954	single nucleotide variant	NM_000110.4(DPYD):c.2179+4A>G	not provided [RCV000840718]	likely benign	1	97306173	97306173	Human		name
15195619	CV759090	single nucleotide variant	NM_000110.4(DPYD):c.2180-3T>C	Dihydropyrimidine dehydrogenase deficiency [RCV003346208]\|not provided [RCV000911465]\|not specified [RCV001288946]	benign\|likely benign	1	97305381	97305381	Human	2	name , alternate_id
15135276	CV774565	single nucleotide variant	NM_000110.4(DPYD):c.2623-8C>T	not provided [RCV000942892]	likely benign	1	97098640	97098640	Human		name
15189069	CV777164	single nucleotide variant	NM_000110.4(DPYD):c.2299+7G>A	not provided [RCV000954067]	likely benign	1	97305252	97305252	Human		name
28881634	CV865224	single nucleotide variant	NM_000110.4(DPYD):c.850+13C>T	Dihydropyrimidine dehydrogenase deficiency [RCV001096924]	uncertain significance	1	97679082	97679082	Human	2	name , alternate_id
8646474	CV105948	single nucleotide variant	NM_000110.4(DPYD):c.2766+19A>G	Dihydropyrimidine dehydrogenase deficiency [RCV000668798]\|not provided [RCV000086453]	benign\|likely benign\|not provided	1	97098470	97098470	Human	2	name , alternate_id
8646479	CV105953	single nucleotide variant	NM_000110.4(DPYD):c.2300-39G>A	not provided [RCV000086458]	benign\|not provided	1	97235033	97235033	Human		name
8646480	CV105954	single nucleotide variant	NM_000110.4(DPYD):c.2300-40G>T	not provided [RCV000086459]	not provided	1	97235034	97235034	Human		name
8646484	CV105958	single nucleotide variant	NM_000110.4(DPYD):c.2180-44T>C	not provided [RCV000086463]	not provided	1	97305422	97305422	Human		name
8646486	CV105960	single nucleotide variant	NM_000110.4(DPYD):c.2058+42A>G	not provided [RCV000086465]	not provided	1	97373519	97373519	Human		name
8646488	CV105963	single nucleotide variant	NM_000110.4(DPYD):c.1974+75A>G	not provided [RCV000086467]	benign\|not provided	1	97382318	97382318	Human		name
8646492	CV105966	single nucleotide variant	NM_000110.4(DPYD):c.1741-65C>T	not provided [RCV000086471]	not provided	1	97450288	97450288	Human		name
8646493	CV105967	single nucleotide variant	NM_000110.4(DPYD):c.1740+40A>G	not provided [RCV000086472]	benign\|not provided	1	97515686	97515686	Human		name
8646494	CV105968	single nucleotide variant	NM_000110.4(DPYD):c.1740+39C>T	not provided [RCV000086473]	benign\|not provided	1	97515687	97515687	Human		name
8646500	CV105973	single nucleotide variant	NM_000110.4(DPYD):c.1524+16C>A	Dihydropyrimidine dehydrogenase deficiency [RCV000668834]\|not provided [RCV000086479]\|not specified [RCV000244377]	likely benign\|not provided	1	97549544	97549544	Human	2	name , alternate_id
8646506	CV105979	single nucleotide variant	NM_000110.4(DPYD):c.1129-11T>G	not provided [RCV000086485]	not provided	1	97573981	97573981	Human		name
8646507	CV105980	single nucleotide variant	NM_000110.4(DPYD):c.1129-15T>C	Dihydropyrimidine dehydrogenase deficiency [RCV000301819]\|not provided [RCV000086486]\|not specified [RCV000247408]	benign\|likely benign\|not provided	1	97573985	97573985	Human	2	name , alternate_id
8646509	CV105982	single nucleotide variant	NM_000110.4(DPYD):c.958+134T>G	not provided [RCV000086488]	benign\|not provided	1	97594925	97594925	Human		name
8646516	CV105989	single nucleotide variant	NM_000110.4(DPYD):c.763-118A>G	not provided [RCV000086495]	benign\|not provided	1	97679300	97679300	Human		name
150416192	CV1179311	single nucleotide variant	NM_000110.4(DPYD):c.484-145T>A	not provided [RCV001549479]	likely benign	1	97699692	97699692	Human		name
150428125	CV1186247	duplication	NM_000110.4(DPYD):c.958+135dup	not provided [RCV001561844]	likely benign	1	97594913	97594914	Human		name
150428972	CV1186248	single nucleotide variant	NM_000110.4(DPYD):c.483+279C>A	not provided [RCV001562975]	likely benign	1	97721231	97721231	Human		name
150459135	CV1202879	duplication	NM_000110.4(DPYD):c.2442+69dup	not provided [RCV001586532]	likely benign	1	97234773	97234774	Human		name
150513472	CV1211942	single nucleotide variant	NM_000110.4(DPYD):c.2908-69A>G	not provided [RCV001598463]	benign	1	97079215	97079215	Human		name
150516024	CV1216413	single nucleotide variant	NM_000110.4(DPYD):c.681-237G>A	not provided [RCV001608604]	benign	1	97692035	97692035	Human		name
150503070	CV1223376	single nucleotide variant	NM_000110.4(DPYD):c.2908-58G>C	not provided [RCV001621311]	benign	1	97079204	97079204	Human		name
150502260	CV1224447	single nucleotide variant	NM_000110.4(DPYD):c.851-255A>G	not provided [RCV001621088]	benign	1	97595421	97595421	Human		name
150482905	CV1245022	single nucleotide variant	NM_000110.4(DPYD):c.2907+55C>T	not provided [RCV001653199]	benign	1	97082275	97082275	Human		name
150443205	CV1249245	duplication	NM_000110.4(DPYD):c.1740+75dup	not provided [RCV001666677]	benign	1	97515643	97515644	Human		name
150481358	CV1258905	single nucleotide variant	NM_000110.4(DPYD):c.2059-94G>T	not provided [RCV001686035]	benign	1	97306391	97306391	Human		name
150486420	CV1262573	single nucleotide variant	NM_000110.4(DPYD):c.1525-90G>A	not provided [RCV001686970]	benign	1	97516031	97516031	Human		name
150471487	CV1270086	single nucleotide variant	NM_000110.4(DPYD):c.1906-24A>C	not provided [RCV001695374]	benign	1	97382485	97382485	Human		name
150462430	CV1276079	single nucleotide variant	NM_000110.4(DPYD):c.483+837A>G	not provided [RCV001710024]	benign	1	97720673	97720673	Human		name
150443662	CV1277888	single nucleotide variant	NM_000110.4(DPYD):c.680+139G>A	DPYD-related disorder [RCV003976053]\|not provided [RCV001707031]	benign	1	97699212	97699212	Human	1	name , trait , alternate_id
155797102	CV1863178	single nucleotide variant	NM_000110.4(DPYD):c.1905+17A>G	Dihydropyrimidine dehydrogenase deficiency [RCV002470452]	uncertain significance	1	97450042	97450042	Human	2	name , alternate_id
156107218	CV2254265	single nucleotide variant	NM_000110.4(DPYD):c.483+609T>C	Inborn genetic diseases [RCV002799492]	uncertain significance	1	97720901	97720901	Human	1	name
11577620	CV281384	single nucleotide variant	NM_000110.4(DPYD):c.2180-11G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000264093]\|not specified [RCV001175533]	uncertain significance	1	97305389	97305389	Human	2	name , alternate_id
11580571	CV281393	single nucleotide variant	NM_000110.4(DPYD):c.1525-11G>A	Dihydropyrimidine dehydrogenase deficiency [RCV000337313]	benign\|likely benign\|uncertain significance	1	97515952	97515952	Human	2	name , alternate_id
11657474	CV283342	single nucleotide variant	NM_000110.4(DPYD):c.1340-14A>C	Dihydropyrimidine dehydrogenase deficiency [RCV000341738]	uncertain significance	1	97549758	97549758	Human	2	name , alternate_id
401949717	CV2834178	deletion	NM_000110.4(DPYD):c.40-6_42del	Dihydropyrimidine dehydrogenase deficiency [RCV003475588]	likely pathogenic	1	97883372	97883380	Human	2	name , alternate_id
11654603	CV283522	single nucleotide variant	NM_001160301.1(DPYD):c.-122C>A	Dihydropyrimidine dehydrogenase deficiency [RCV000319215]	uncertain significance	1	97921044	97921044	Human	2	name , alternate_id
405293728	CV3214404	single nucleotide variant	NM_000110.4(DPYD):c.483+604T>A	DPYD-related disorder [RCV003932091]	likely benign	1	97720906	97720906	Human		name , trait , alternate_id
13809288	CV576560	single nucleotide variant	NM_000110.4(DPYD):c.483+601C>G	not provided [RCV000711508]	benign	1	97720909	97720909	Human		name
8646481	CV105955	single nucleotide variant	NM_000110.4(DPYD):c.2300-109T>C	not provided [RCV000086460]	not provided	1	97235103	97235103	Human		name
8646482	CV105956	single nucleotide variant	NM_000110.4(DPYD):c.2299+100C>T	not provided [RCV000086461]	not provided	1	97305159	97305159	Human		name
8646503	CV105976	single nucleotide variant	NM_000110.4(DPYD):c.1340-106T>A	not provided [RCV000086482]	benign\|not provided	1	97549850	97549850	Human		name
8576176	CV110531	single nucleotide variant	NM_000110.3(DPYD):c.40-14756G>A	Lung cancer [RCV000091054]	uncertain significance	1	97898130	97898130	Human		name
150420633	CV1179310	single nucleotide variant	NM_000110.4(DPYD):c.1128+161G>A	not provided [RCV001551641]	likely benign	1	97593057	97593057	Human		name
150409340	CV1189680	single nucleotide variant	NM_000110.4(DPYD):c.2908-208A>G	not provided [RCV001565637]	likely benign	1	97079354	97079354	Human		name
150404568	CV1192911	single nucleotide variant	NM_000110.4(DPYD):c.2058+157G>A	not provided [RCV001571226]	likely benign	1	97373404	97373404	Human		name
150512652	CV1213015	single nucleotide variant	NM_000110.4(DPYD):c.2058+230A>G	not provided [RCV001598247]	benign	1	97373331	97373331	Human		name
150466905	CV1218268	single nucleotide variant	NM_000110.4(DPYD):c.2058+101T>C	not provided [RCV001614394]	benign	1	97373460	97373460	Human		name
150502009	CV1224362	single nucleotide variant	NM_000110.4(DPYD):c.1906-123C>A	not provided [RCV001621003]	benign	1	97382584	97382584	Human		name
150508469	CV1229651	single nucleotide variant	NM_000110.4(DPYD):c.1524+176G>T	not provided [RCV001636229]	benign	1	97549384	97549384	Human		name
150434299	CV1230754	single nucleotide variant	NM_000110.4(DPYD):c.2442+163A>G	not provided [RCV001643700]	benign	1	97234689	97234689	Human		name
150486681	CV1234634	duplication	NM_000110.4(DPYD):c.1525-132dup	not provided [RCV001654057]	benign	1	97516066	97516067	Human		name
150501851	CV1241054	single nucleotide variant	NM_000110.4(DPYD):c.2058+263G>A	not provided [RCV001656950]	benign	1	97373298	97373298	Human		name
150460826	CV1253163	single nucleotide variant	NM_000110.4(DPYD):c.2058+264C>T	not provided [RCV001669492]	benign	1	97373297	97373297	Human		name
150502371	CV1254508	single nucleotide variant	NM_000110.4(DPYD):c.2622+230G>A	not provided [RCV001677210]	benign	1	97192839	97192839	Human		name
150467554	CV1255925	single nucleotide variant	NM_000110.4(DPYD):c.2058+145T>C	not provided [RCV001670559]	benign	1	97373416	97373416	Human		name
150452852	CV1260448	single nucleotide variant	NM_000110.4(DPYD):c.2767-333G>A	not provided [RCV001680938]	benign	1	97082803	97082803	Human		name
150475856	CV1271252	single nucleotide variant	NM_000110.4(DPYD):c.1525-209G>A	not provided [RCV001696075]	benign	1	97516150	97516150	Human		name
150496685	CV1271594	single nucleotide variant	NM_000110.4(DPYD):c.2442+283G>A	not provided [RCV001688895]	benign	1	97234569	97234569	Human		name
150462223	CV1276055	single nucleotide variant	NM_000110.4(DPYD):c.1975-213G>C	not provided [RCV001709994]	benign	1	97373857	97373857	Human		name
150476895	CV1279350	single nucleotide variant	NM_000110.4(DPYD):c.1340-181C>A	not provided [RCV001714055]	benign	1	97549925	97549925	Human		name
8576175	CV110530	single nucleotide variant	NM_000110.3(DPYD):c.234-16132G>C	Lung cancer [RCV000091053]	uncertain significance	1	97756611	97756611	Human		name
14696472	CV623100	single nucleotide variant	NM_000110.4(DPYD):c.1129-5923C>G	DPYD-related disorder [RCV003975320]\|capecitabine response - Toxicity [RCV001788348]\|fluorouracil response - Other [RCV001788347]\|fluorouracil response - Toxicity [RCV001788349]\|not provided [RCV003411727]	pathogenic\|benign\|likely benign\|drug response	1	97579893	97579893	Human	1	name , trait , alternate_id
21404105	CV801600	deletion	NM_000110.4(DPYD):c.1977_1983del	Dihydropyrimidine dehydrogenase deficiency [RCV001004162]	likely pathogenic	1	97373636	97373642	Human	2	name , alternate_id
8646527	CV106000	single nucleotide variant	NM_000110.4(DPYD):c.85= (p.Cys29=)	not provided [RCV000086506]\|not specified [RCV004776272]	benign\|uncertain significance\|not provided	1	97883329	97883329	Human		name
13784260	CV541398	microsatellite	NM_000110.4(DPYD):c.2177_2179+1del	Dihydropyrimidine dehydrogenase deficiency [RCV000670707]	likely pathogenic	1	97306176	97306179	Human		name , alternate_id
405698024	CV3385170	single nucleotide variant	NM_000110.4(DPYD):c.21G>A (p.Lys7=)	Inborn genetic diseases [RCV004520477]	likely benign	1	97920902	97920902	Human	1	name
156101157	CV2386770	single nucleotide variant	NM_000110.4(DPYD):c.7C>T (p.Pro3Ser)	Inborn genetic diseases [RCV002739113]	uncertain significance	1	97920916	97920916	Human	1	name
329955155	CV2671096	single nucleotide variant	NM_000110.4(DPYD):c.1A>C (p.Met1Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV003236367]	likely pathogenic	1	97920922	97920922	Human	2	name , alternate_id
12738570	CV357186	single nucleotide variant	NM_000110.4(DPYD):c.3G>A (p.Met1Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV000409638]	likely pathogenic	1	97920920	97920920	Human	2	name , alternate_id
13789060	CV541382	single nucleotide variant	NM_000110.4(DPYD):c.45C>A (p.Ile15=)	Dihydropyrimidine dehydrogenase deficiency [RCV000665756]	likely benign	1	97883369	97883369	Human	2	name , alternate_id
8629743	CV84890	single nucleotide variant	NM_000110.3(DPYD):c.45C>T (p.Ile15=)	Malignant melanoma [RCV000064972]	not provided	1	97883369	97883369	Human		name
28905497	CV865237	single nucleotide variant	NM_000110.4(DPYD):c.48G>A (p.Leu16=)	Dihydropyrimidine dehydrogenase deficiency [RCV001106102]	uncertain significance	1	97883366	97883366	Human	2	name , alternate_id
28905500	CV865238	single nucleotide variant	NM_000110.4(DPYD):c.4G>T (p.Ala2Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV001106103]	uncertain significance	1	97920919	97920919	Human	2	name , alternate_id
153304325	CV1686952	single nucleotide variant	NM_000110.4(DPYD):c.279T>C (p.Thr93=)	not provided [RCV002262239]	likely benign	1	97740434	97740434	Human		name
329363913	CV2469506	single nucleotide variant	NM_000110.4(DPYD):c.261T>C (p.Cys87=)	Inborn genetic diseases [RCV003206539]	likely benign	1	97740452	97740452	Human	1	name
15163153	CV707614	single nucleotide variant	NM_000110.4(DPYD):c.258G>A (p.Pro86=)	not provided [RCV000970420]	likely benign	1	97740455	97740455	Human		name
8646519	CV105992	single nucleotide variant	NM_000110.4(DPYD):c.525G>A (p.Ser175=)	Inborn genetic diseases [RCV004019590]\|not provided [RCV000086498]	likely benign\|not provided	1	97699506	97699506	Human	1	name
150551169	CV1292540	single nucleotide variant	NM_000110.4(DPYD):c.86G>A (p.Cys29Tyr)	not provided [RCV001754147]	uncertain significance	1	97883328	97883328	Human		name
8594982	CV15474	single nucleotide variant	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV000000464]\|capecitabine response - Toxicity [RCV001787362]\|fluorouracil response - Toxicity [RCV001787363]\|not provided [RCV000711510]\|not specified [RCV002247229]	pathogenic\|benign\|drug response	1	97883329	97883329	Human	5	name , alternate_id
8594982	CV15474	single nucleotide variant	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV000000464]\|capecitabine response - Toxicity [RCV001787362]\|fluorouracil response - Toxicity [RCV001787363]\|not provided [RCV000711510]\|not specified [RCV002247229]	pathogenic\|benign\|drug response	1	97883329	97883330	Human	5	name , alternate_id
153346255	CV1691041	single nucleotide variant	NM_000110.4(DPYD):c.36C>G (p.Ile12Met)	not specified [RCV002271942]	uncertain significance	1	97920887	97920887	Human		name
155732367	CV1785722	single nucleotide variant	NM_000110.4(DPYD):c.336T>G (p.Ala112=)	Inborn genetic diseases [RCV002451743]	likely benign	1	97721657	97721657	Human	1	name
155682277	CV1795734	single nucleotide variant	NM_000110.4(DPYD):c.342G>A (p.Lys114=)	Inborn genetic diseases [RCV002457021]	likely benign	1	97721651	97721651	Human	1	name
155746631	CV1800261	single nucleotide variant	NM_000110.4(DPYD):c.570T>C (p.Ile190=)	Inborn genetic diseases [RCV002347632]	likely benign	1	97699461	97699461	Human	1	name
155687555	CV1803655	single nucleotide variant	NM_000110.4(DPYD):c.591T>A (p.Pro197=)	Inborn genetic diseases [RCV002355809]	likely benign	1	97699440	97699440	Human	1	name
155687571	CV1803659	single nucleotide variant	NM_000110.4(DPYD):c.591T>C (p.Pro197=)	Inborn genetic diseases [RCV002355813]	likely benign	1	97699440	97699440	Human	1	name
155722682	CV1814505	single nucleotide variant	NM_000110.4(DPYD):c.879C>T (p.Ile293=)	Inborn genetic diseases [RCV002449780]	likely benign	1	97595138	97595138	Human	1	name
10042643	CV186636	single nucleotide variant	NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000169198]\|not provided [RCV003329249]	pathogenic\|likely pathogenic	1	97883353	97883353	Human	2	name , alternate_id
329356606	CV2460436	single nucleotide variant	NM_000110.4(DPYD):c.73C>T (p.His25Tyr)	Inborn genetic diseases [RCV003203365]	uncertain significance	1	97883341	97883341	Human	1	name
401737289	CV2679275	single nucleotide variant	NM_000110.4(DPYD):c.37G>A (p.Glu13Lys)	Inborn genetic diseases [RCV003239811]	uncertain significance	1	97920886	97920886	Human	1	name
11580400	CV282044	single nucleotide variant	NM_000110.4(DPYD):c.474T>C (p.Phe158=)	Dihydropyrimidine dehydrogenase deficiency [RCV000331937]\|Inborn genetic diseases [RCV002328797]	likely benign\|uncertain significance	1	97721519	97721519	Human	3	name , alternate_id
401941792	CV2834219	single nucleotide variant	NM_000110.4(DPYD):c.95C>A (p.Ser32Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467854]	likely pathogenic	1	97883319	97883319	Human	2	name , alternate_id
405698065	CV3385177	single nucleotide variant	NM_000110.4(DPYD):c.771C>T (p.Cys257=)	Inborn genetic diseases [RCV004520484]	likely benign	1	97679174	97679174	Human	1	name
405698071	CV3385178	single nucleotide variant	NM_000110.4(DPYD):c.966C>T (p.Cys322=)	Inborn genetic diseases [RCV004520485]	likely benign	1	97593380	97593380	Human	1	name
597650563	CV3663701	single nucleotide variant	NM_000110.4(DPYD):c.606T>C (p.Cys202=)	Inborn genetic diseases [RCV004974577]	likely benign	1	97699425	97699425	Human	1	name
598223437	CV3894003	single nucleotide variant	NM_000110.4(DPYD):c.807C>T (p.Ser269=)	not provided [RCV005257246]	likely benign	1	97679138	97679138	Human		name
28903049	CV865235	single nucleotide variant	NM_000110.4(DPYD):c.739C>T (p.Leu247=)	Dihydropyrimidine dehydrogenase deficiency [RCV001104935]	uncertain significance	1	97691740	97691740	Human	2	name , alternate_id
28903051	CV865236	single nucleotide variant	NM_000110.4(DPYD):c.639C>T (p.Asp213=)	Dihydropyrimidine dehydrogenase deficiency [RCV001104937]	uncertain significance	1	97699392	97699392	Human	2	name , alternate_id
126738742	CV1015813	single nucleotide variant	NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV001329029]\|not provided [RCV001551714]	pathogenic\|likely pathogenic	1	97740456	97740456	Human	2	name , alternate_id
8646475	CV105949	single nucleotide variant	NM_000110.4(DPYD):c.2598A>G (p.Pro866=)	not provided [RCV000086454]	not provided	1	97193093	97193093	Human		name
8646476	CV105950	single nucleotide variant	NM_000110.4(DPYD):c.2532A>G (p.Glu844=)	not provided [RCV000086455]	not provided	1	97193159	97193159	Human		name
8646478	CV105952	single nucleotide variant	NM_000110.4(DPYD):c.2301G>T (p.Gly767=)	not provided [RCV000086457]	not provided	1	97234993	97234993	Human		name
8646487	CV105961	single nucleotide variant	NM_000110.4(DPYD):c.2049C>G (p.Ala683=)	DPYD-related disorder [RCV003952535]\|Dihydropyrimidine dehydrogenase deficiency [RCV001098580]\|Inborn genetic diseases [RCV003162517]\|not provided [RCV000086466]	likely benign\|uncertain significance\|not provided	1	97373570	97373570	Human	3	name , trait , alternate_id
8646490	CV105964	single nucleotide variant	NM_000110.4(DPYD):c.1905C>T (p.Asn635=)	Dihydropyrimidine dehydrogenase deficiency [RCV001098581]\|Inborn genetic diseases [RCV002514534]\|not provided [RCV000086469]	benign\|likely benign\|uncertain significance\|not provided	1	97450059	97450059	Human	3	name , alternate_id
8646491	CV105965	single nucleotide variant	NM_000110.4(DPYD):c.1896T>C (p.Phe632=)	Dihydropyrimidine dehydrogenase deficiency [RCV000270743]\|capecitabine response - Toxicity [RCV001787905]\|fluorouracil response - Toxicity [RCV001787906]\|not provided [RCV000086470]\|not specified [RCV000244711]	benign\|likely benign\|drug response\|not provided	1	97450068	97450068	Human	2	name , alternate_id
8646501	CV105974	single nucleotide variant	NM_000110.4(DPYD):c.1371C>T (p.Asn457=)	Dihydropyrimidine dehydrogenase deficiency [RCV001102322]\|Inborn genetic diseases [RCV002381410]\|not provided [RCV000086480]	benign\|likely benign\|not provided	1	97549713	97549713	Human	3	name , alternate_id
8646504	CV105977	single nucleotide variant	NM_000110.4(DPYD):c.1236G>A (p.Glu412=)	Dihydropyrimidine dehydrogenase deficiency [RCV001102326]\|capecitabine response - Toxicity [RCV001787911]\|fluorouracil response - Toxicity [RCV001787912]\|not provided [RCV000086483]\|not specified [RCV000252397]	benign\|likely benign\|drug response\|not provided	1	97573863	97573863	Human	2	name , alternate_id
8646522	CV105995	single nucleotide variant	NM_000110.4(DPYD):c.269G>T (p.Ser90Ile)	not provided [RCV000086501]	not provided	1	97740444	97740444	Human		name
8646523	CV105996	single nucleotide variant	NM_000110.4(DPYD):c.265A>T (p.Lys89Ter)	not provided [RCV000086502]	not provided	1	97740448	97740448	Human		name
155741331	CV1790742	single nucleotide variant	NM_000110.4(DPYD):c.1167A>G (p.Pro389=)	Inborn genetic diseases [RCV002333388]	likely benign	1	97573932	97573932	Human	1	name
155721759	CV1828196	single nucleotide variant	NM_000110.4(DPYD):c.1671A>G (p.Thr557=)	Inborn genetic diseases [RCV002405858]	likely benign	1	97515795	97515795	Human	1	name
155710924	CV1831142	single nucleotide variant	NM_000110.4(DPYD):c.1650C>T (p.Ser550=)	Inborn genetic diseases [RCV002403656]	likely benign	1	97515816	97515816	Human	1	name
155669445	CV1832160	single nucleotide variant	NM_000110.4(DPYD):c.1311C>T (p.Ala437=)	Inborn genetic diseases [RCV002385456]	likely benign	1	97573788	97573788	Human	1	name
155723724	CV1832532	single nucleotide variant	NM_000110.4(DPYD):c.1383C>T (p.Leu461=)	Inborn genetic diseases [RCV002381214]	likely benign	1	97549701	97549701	Human	1	name
155719268	CV1835598	single nucleotide variant	NM_000110.4(DPYD):c.1293C>T (p.Ala431=)	Inborn genetic diseases [RCV002380599]	likely benign	1	97573806	97573806	Human	1	name
155745006	CV1837882	single nucleotide variant	NM_000110.4(DPYD):c.1683A>C (p.Arg561=)	Inborn genetic diseases [RCV002414550]	likely benign	1	97515783	97515783	Human	1	name
155705892	CV1841178	single nucleotide variant	NM_000110.4(DPYD):c.2283A>C (p.Thr761=)	Inborn genetic diseases [RCV002446113]	likely benign	1	97305275	97305275	Human	1	name
155748235	CV1846925	single nucleotide variant	NM_000110.4(DPYD):c.2115T>A (p.Pro705=)	Inborn genetic diseases [RCV002417550]	likely benign	1	97306241	97306241	Human	1	name
155688496	CV1850385	single nucleotide variant	NM_000110.4(DPYD):c.218T>G (p.Leu73Arg)	Inborn genetic diseases [RCV002425548]	uncertain significance	1	97828129	97828129	Human	1	name
156054001	CV1935037	single nucleotide variant	NM_000110.4(DPYD):c.2976T>C (p.Cys992=)	not specified [RCV002510323]	likely benign	1	97079078	97079078	Human		name
156383183	CV2223807	single nucleotide variant	NM_000110.4(DPYD):c.137A>C (p.Asp46Ala)	Inborn genetic diseases [RCV002722932]	uncertain significance	1	97883277	97883277	Human	1	name
156231979	CV2245124	single nucleotide variant	NM_000110.4(DPYD):c.185T>A (p.Ile62Asn)	Inborn genetic diseases [RCV002767712]	uncertain significance	1	97828162	97828162	Human	1	name
156064704	CV2376017	single nucleotide variant	NM_000110.4(DPYD):c.194C>T (p.Thr65Met)	Inborn genetic diseases [RCV002693628]\|not provided [RCV005230447]	uncertain significance	1	97828153	97828153	Human	1	name
156038337	CV2384163	single nucleotide variant	NM_000110.4(DPYD):c.1524G>A (p.Gln508=)	Inborn genetic diseases [RCV002704169]	uncertain significance	1	97549560	97549560	Human	1	name
156050005	CV2391135	single nucleotide variant	NM_000110.4(DPYD):c.188A>C (p.Lys63Thr)	Inborn genetic diseases [RCV002759290]	uncertain significance	1	97828159	97828159	Human	1	name
156050041	CV2391137	single nucleotide variant	NM_000110.4(DPYD):c.189G>C (p.Lys63Asn)	Inborn genetic diseases [RCV002759292]	uncertain significance	1	97828158	97828158	Human	1	name
401764757	CV2728064	single nucleotide variant	NM_000110.4(DPYD):c.1140T>C (p.Ala380=)	Inborn genetic diseases [RCV003301020]\|not provided [RCV004809992]	likely benign	1	97573959	97573959	Human	1	name
401755994	CV2731267	single nucleotide variant	NM_000110.4(DPYD):c.1602T>C (p.Ser534=)	Inborn genetic diseases [RCV003278597]	likely benign	1	97515864	97515864	Human	1	name
401863962	CV2763780	single nucleotide variant	NM_000110.4(DPYD):c.1554G>A (p.Lys518=)	Inborn genetic diseases [RCV003344141]	likely benign	1	97515912	97515912	Human	1	name
401891712	CV2779336	single nucleotide variant	NM_000110.4(DPYD):c.209G>A (p.Arg70Gln)	Inborn genetic diseases [RCV003355047]	uncertain significance	1	97828138	97828138	Human	1	name
401902911	CV2797677	single nucleotide variant	NM_000110.4(DPYD):c.272G>T (p.Cys91Phe)	DPYD-related disorder [RCV003419171]	uncertain significance	1	97740441	97740441	Human		name , trait , alternate_id
401928011	CV2809013	single nucleotide variant	NM_000110.4(DPYD):c.2994T>C (p.Ile998=)	not provided [RCV003406611]	likely benign	1	97079060	97079060	Human		name
401928013	CV2809014	single nucleotide variant	NM_000110.4(DPYD):c.2223G>C (p.Leu741=)	not provided [RCV003406612]	likely benign	1	97305335	97305335	Human		name
401928017	CV2809015	single nucleotide variant	NM_000110.4(DPYD):c.1617A>G (p.Gly539=)	not provided [RCV003406613]	likely benign	1	97515849	97515849	Human		name
401947381	CV2834180	duplication	NM_000110.4(DPYD):c.544dup (p.Met182fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466232]	likely pathogenic	1	97699486	97699487	Human	2	name , alternate_id
401941885	CV2834193	single nucleotide variant	NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467837]	pathogenic\|likely pathogenic	1	97828142	97828142	Human	2	name , alternate_id
401941883	CV2834194	duplication	NM_000110.4(DPYD):c.993dup (p.Arg332fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467838]	likely pathogenic	1	97593352	97593353	Human	2	name , alternate_id
401941807	CV2834228	deletion	NM_000110.4(DPYD):c.617del (p.Leu206fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467861]	likely pathogenic	1	97699414	97699414	Human	2	name , alternate_id
11579446	CV283491	single nucleotide variant	NM_000110.4(DPYD):c.2193C>T (p.Gly731=)	Dihydropyrimidine dehydrogenase deficiency [RCV000304017]	uncertain significance	1	97305365	97305365	Human	2	name , alternate_id
11579086	CV283509	single nucleotide variant	NM_000110.4(DPYD):c.1614C>T (p.Ala538=)	Dihydropyrimidine dehydrogenase deficiency [RCV000295233]	uncertain significance	1	97515852	97515852	Human	2	name , alternate_id
405265409	CV3185633	single nucleotide variant	NM_000110.4(DPYD):c.1020T>G (p.Ala340=)	not provided [RCV003886197]	likely benign	1	97593326	97593326	Human		name
405713043	CV3248006	single nucleotide variant	NM_000110.4(DPYD):c.181G>C (p.Asp61His)	Inborn genetic diseases [RCV004376961]	uncertain significance	1	97828166	97828166	Human	1	name
405698035	CV3385172	single nucleotide variant	NM_000110.4(DPYD):c.2421T>C (p.His807=)	Inborn genetic diseases [RCV004520479]	likely benign	1	97234873	97234873	Human	1	name
405698040	CV3385173	single nucleotide variant	NM_000110.4(DPYD):c.2550T>C (p.Asp850=)	Inborn genetic diseases [RCV004520480]	likely benign	1	97193141	97193141	Human	1	name
405698047	CV3385174	single nucleotide variant	NM_000110.4(DPYD):c.2586G>A (p.Gly862=)	Inborn genetic diseases [RCV004520481]	likely benign	1	97193105	97193105	Human	1	name
405698054	CV3385175	single nucleotide variant	NM_000110.4(DPYD):c.2646T>C (p.Tyr882=)	Inborn genetic diseases [RCV004520482]	likely benign	1	97098609	97098609	Human	1	name
407488753	CV3434639	single nucleotide variant	NM_000110.4(DPYD):c.146G>T (p.Cys49Phe)	Inborn genetic diseases [RCV004619790]	uncertain significance	1	97883268	97883268	Human	1	name
407488762	CV3434641	single nucleotide variant	NM_000110.4(DPYD):c.2283A>G (p.Thr761=)	Inborn genetic diseases [RCV004619792]	likely benign	1	97305275	97305275	Human	1	name
408366626	CV3512354	single nucleotide variant	NM_000110.4(DPYD):c.2673A>G (p.Ala891=)	DPYD-related disorder [RCV004756839]	likely benign	1	97098582	97098582	Human		name , trait , alternate_id
12740417	CV357174	deletion	NM_000110.4(DPYD):c.910del (p.Tyr304fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411932]	likely pathogenic	1	97595107	97595107	Human	2	name , alternate_id
12739633	CV357179	deletion	NM_000110.4(DPYD):c.523del (p.Ser175fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000410066]	likely pathogenic	1	97699508	97699508	Human	2	name , alternate_id
12738657	CV357182	single nucleotide variant	NM_000110.4(DPYD):c.232A>T (p.Arg78Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000410763]	likely pathogenic	1	97828115	97828115	Human	2	name , alternate_id
12738701	CV357183	single nucleotide variant	NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	DPYD-related disorder [RCV004755907]\|Dihydropyrimidine dehydrogenase deficiency [RCV000411323]\|not provided [RCV002298579]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	97828127	97828127	Human	2	name , trait , alternate_id
12738511	CV357184	single nucleotide variant	NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000409115]	pathogenic\|likely pathogenic	1	97828139	97828139	Human	2	name , alternate_id
597650682	CV3663700	single nucleotide variant	NM_000110.4(DPYD):c.1180C>A (p.Arg394=)	Inborn genetic diseases [RCV004974576]	likely benign	1	97573919	97573919	Human	1	name
597650572	CV3663703	single nucleotide variant	NM_000110.4(DPYD):c.2802A>T (p.Thr934=)	Inborn genetic diseases [RCV004974579]	likely benign	1	97082435	97082435	Human	1	name
597650579	CV3663704	single nucleotide variant	NM_000110.4(DPYD):c.151A>C (p.Asn51His)	Inborn genetic diseases [RCV004974580]	uncertain significance	1	97828196	97828196	Human	1	name
597676360	CV3730833	single nucleotide variant	NM_000110.4(DPYD):c.2886C>T (p.Thr962=)	not provided [RCV004997720]	uncertain significance	1	97082351	97082351	Human		name
598216929	CV3895273	single nucleotide variant	NM_000110.4(DPYD):c.141G>T (p.Lys47Asn)	DPYD-related disorder [RCV005360169]	uncertain significance	1	97883273	97883273	Human		name , trait , alternate_id
598187137	CV3960919	single nucleotide variant	NM_000110.4(DPYD):c.1857A>C (p.Ala619=)	Inborn genetic diseases [RCV005334161]	likely benign	1	97450107	97450107	Human	1	name
598187149	CV3960921	single nucleotide variant	NM_000110.4(DPYD):c.1125G>A (p.Glu375=)	Inborn genetic diseases [RCV005334163]	likely benign	1	97593221	97593221	Human	1	name
598187153	CV3960922	single nucleotide variant	NM_000110.4(DPYD):c.263A>G (p.Gln88Arg)	Inborn genetic diseases [RCV005334164]	uncertain significance	1	97740450	97740450	Human	1	name
13782638	CV541381	single nucleotide variant	NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)	Dihydropyrimidine dehydrogenase deficiency [RCV000669112]\|Inborn genetic diseases [RCV002531218]\|not provided [RCV004719931]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	97828160	97828160	Human	3	name , alternate_id
15172238	CV719152	single nucleotide variant	NM_000110.4(DPYD):c.1494A>G (p.Gln498=)	DPYD-related disorder [RCV003910433]\|Dihydropyrimidine dehydrogenase deficiency [RCV003344117]\|Inborn genetic diseases [RCV002390862]\|not provided [RCV000883802]	benign\|likely benign	1	97549590	97549590	Human	3	name , trait , alternate_id
15098067	CV746704	single nucleotide variant	NM_000110.4(DPYD):c.1701A>T (p.Gly567=)	Dihydropyrimidine dehydrogenase deficiency [RCV003346210]\|Inborn genetic diseases [RCV002409168]\|not provided [RCV000914159]	likely benign	1	97515765	97515765	Human	3	name , alternate_id
21074051	CV792905	single nucleotide variant	NM_000110.4(DPYD):c.274C>G (p.Pro92Ala)	Dihydropyrimidine dehydrogenase deficiency [RCV002488088]\|not provided [RCV000991926]	uncertain significance	1	97740439	97740439	Human	2	name , alternate_id
8625077	CV80196	single nucleotide variant	NM_000110.3(DPYD):c.2418C>T (p.Leu806=)	Malignant melanoma [RCV000060272]	not provided	1	97234876	97234876	Human		name
8629740	CV84887	single nucleotide variant	NM_000110.3(DPYD):c.1953G>A (p.Thr651=)	Malignant melanoma [RCV000064969]	not provided	1	97382414	97382414	Human		name
8629741	CV84888	single nucleotide variant	NM_000110.3(DPYD):c.1209T>C (p.Ile403=)	Malignant melanoma [RCV000064970]	not provided	1	97573890	97573890	Human		name
8646511	CV105984	single nucleotide variant	NM_000110.4(DPYD):c.887G>A (p.Gly296Asp)	not provided [RCV000086490]	not provided	1	97595130	97595130	Human		name
8646512	CV105985	single nucleotide variant	NM_000110.4(DPYD):c.869A>G (p.Lys290Arg)	not provided [RCV000086491]	not provided	1	97595148	97595148	Human		name
8646517	CV105990	single nucleotide variant	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD-related disorder [RCV003964961]\|Dihydropyrimidine dehydrogenase deficiency [RCV000671354]\|fluorouracil response - Other [RCV001787913]\|fluorouracil response - Toxicity [RCV001787914]\|not provided [RCV000086496]\|not specified [RCV002222386]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97699474	97699474	Human	2	name , trait , alternate_id
8646518	CV105991	single nucleotide variant	NM_000110.4(DPYD):c.542A>C (p.Lys181Thr)	not provided [RCV000086497]	not provided	1	97699489	97699489	Human		name
8646520	CV105993	single nucleotide variant	NM_000110.4(DPYD):c.496A>G (p.Met166Val)	DPYD-related disorder [RCV003891588]\|Dihydropyrimidine dehydrogenase deficiency [RCV000276917]\|capecitabine response - Toxicity [RCV001787915]\|fluorouracil response - Toxicity [RCV001787916]\|not provided [RCV000086499]\|not specified [RCV000245015]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97699535	97699535	Human	2	name , trait , alternate_id
150408976	CV1182211	single nucleotide variant	NM_000110.4(DPYD):c.464T>A (p.Leu155Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV001553731]	pathogenic	1	97721529	97721529	Human	2	name , alternate_id
150535002	CV1311736	single nucleotide variant	NM_000110.4(DPYD):c.545T>A (p.Met182Lys)	Dihydropyrimidine dehydrogenase deficiency [RCV002478006]\|not specified [RCV001779547]	uncertain significance	1	97699486	97699486	Human	2	name , alternate_id
151236135	CV1319566	single nucleotide variant	NM_000110.4(DPYD):c.868A>G (p.Lys290Glu)	Dihydropyrimidine dehydrogenase deficiency [RCV002482322]\|not provided [RCV001797511]\|not specified [RCV003317527]	uncertain significance	1	97595149	97595149	Human	2	name , alternate_id
151355803	CV1326987	single nucleotide variant	NM_000110.4(DPYD):c.895C>T (p.Gln299Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003470927]\|not provided [RCV001822156]	likely pathogenic	1	97595122	97595122	Human	2	name , alternate_id
155741178	CV1779841	deletion	NM_000110.4(DPYD):c.2746del (p.Arg916fs)	Dihydropyrimidine dehydrogenase deficiency [RCV002302445]	likely pathogenic	1	97098509	97098509	Human	2	name , alternate_id
155689303	CV1814450	single nucleotide variant	NM_000110.4(DPYD):c.877A>G (p.Ile293Val)	Inborn genetic diseases [RCV002373644]	uncertain significance	1	97595140	97595140	Human	1	name
155728773	CV1823389	single nucleotide variant	NM_000110.4(DPYD):c.768T>G (p.Ile256Met)	DPYD-related disorder [RCV005356108]\|Inborn genetic diseases [RCV002400529]	uncertain significance	1	97679177	97679177	Human	2	name , trait , alternate_id
155795271	CV1861210	single nucleotide variant	NM_000110.4(DPYD):c.976T>C (p.Ser326Pro)	not provided [RCV002469490]	uncertain significance	1	97593370	97593370	Human		name
155796516	CV1861890	single nucleotide variant	NM_000110.4(DPYD):c.710C>T (p.Pro237Leu)	not specified [RCV002470172]	uncertain significance	1	97691769	97691769	Human		name
156067976	CV2193661	single nucleotide variant	NM_000110.4(DPYD):c.770G>A (p.Cys257Tyr)	Inborn genetic diseases [RCV002660073]	uncertain significance	1	97679175	97679175	Human	1	name
155915915	CV2239602	single nucleotide variant	NM_000110.4(DPYD):c.841A>G (p.Ile281Val)	Inborn genetic diseases [RCV002772288]	uncertain significance	1	97679104	97679104	Human	1	name
156087341	CV2299121	single nucleotide variant	NM_000110.4(DPYD):c.367G>A (p.Gly123Ser)	Inborn genetic diseases [RCV002869619]	uncertain significance	1	97721626	97721626	Human	1	name
11350848	CV237147	single nucleotide variant	NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)	Dihydropyrimidine dehydrogenase deficiency [RCV000986378]\|Inborn genetic diseases [RCV002408943]\|not provided [RCV000224513]\|not specified [RCV000249889]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	97679170	97679170	Human	3	name , alternate_id
243058160	CV2412318	single nucleotide variant	NM_000110.4(DPYD):c.328T>C (p.Tyr110His)	Dihydropyrimidine dehydrogenase deficiency [RCV003146860]	uncertain significance	1	97721665	97721665	Human	2	name , alternate_id
329353620	CV2466937	single nucleotide variant	NM_000110.4(DPYD):c.340A>G (p.Lys114Glu)	Inborn genetic diseases [RCV003201386]	uncertain significance	1	97721653	97721653	Human	1	name
329955154	CV2671095	single nucleotide variant	NM_000110.4(DPYD):c.623G>A (p.Arg208Gln)	not specified [RCV003236366]	uncertain significance	1	97699408	97699408	Human		name
401782925	CV2716046	single nucleotide variant	NM_000110.4(DPYD):c.497T>C (p.Met166Thr)	Inborn genetic diseases [RCV003309230]	uncertain significance	1	97699534	97699534	Human	1	name
401724086	CV2737968	single nucleotide variant	NM_000110.4(DPYD):c.508C>T (p.Gln170Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003315140]	likely pathogenic	1	97699523	97699523	Human	2	name , alternate_id
401738588	CV2738312	single nucleotide variant	NM_000110.4(DPYD):c.967G>A (p.Ala323Thr)	not specified [RCV003317700]	uncertain significance	1	97593379	97593379	Human		name
401867773	CV2749061	single nucleotide variant	NM_000110.4(DPYD):c.731A>C (p.Glu244Ala)	not specified [RCV003331886]	uncertain significance	1	97691748	97691748	Human		name
401933350	CV2804103	single nucleotide variant	NM_000110.4(DPYD):c.772G>A (p.Gly258Ser)	DPYD-related disorder [RCV003392845]\|not specified [RCV004701055]	uncertain significance	1	97679173	97679173	Human	1	name , trait , alternate_id
11579607	CV281399	single nucleotide variant	NM_000110.4(DPYD):c.995G>A (p.Arg332Gln)	Dihydropyrimidine dehydrogenase deficiency [RCV000307854]\|Inborn genetic diseases [RCV004021456]\|not provided [RCV004808671]	uncertain significance	1	97593351	97593351	Human	3	name , alternate_id
11581245	CV282038	single nucleotide variant	NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)	Dihydropyrimidine dehydrogenase deficiency [RCV000362597]\|fluorouracil response - Other [RCV000786703]	likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	1	97691776	97691776	Human	2	name , alternate_id
401947375	CV2834176	single nucleotide variant	NM_000110.4(DPYD):c.601A>C (p.Ser201Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV003466229]\|not provided [RCV005409932]	likely pathogenic	1	97699430	97699430	Human	2	name , alternate_id
401947391	CV2834188	deletion	NM_000110.4(DPYD):c.1780del (p.Thr594fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466237]	likely pathogenic	1	97450184	97450184	Human	2	name , alternate_id
401940726	CV2834191	duplication	NM_000110.4(DPYD):c.2832dup (p.Val945fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003459990]	likely pathogenic	1	97082404	97082405	Human	2	name , alternate_id
401941819	CV2834197	single nucleotide variant	NM_000110.4(DPYD):c.697C>T (p.Gln233Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467839]	likely pathogenic	1	97691782	97691782	Human	2	name , alternate_id
401941779	CV2834203	deletion	NM_000110.4(DPYD):c.1302del (p.Ile435fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467843]	likely pathogenic	1	97573797	97573797	Human	2	name , alternate_id
401941770	CV2834204	duplication	NM_000110.4(DPYD):c.1714dup (p.Leu572fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467844]	likely pathogenic	1	97515751	97515752	Human	2	name , alternate_id
401941904	CV2834210	single nucleotide variant	NM_000110.4(DPYD):c.966C>A (p.Cys322Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467849]	likely pathogenic	1	97593380	97593380	Human	2	name , alternate_id
401949720	CV2834211	deletion	NM_000110.4(DPYD):c.2146del (p.Asp716fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003475591]	likely pathogenic	1	97306210	97306210	Human	2	name , alternate_id
401940822	CV2834212	deletion	NM_000110.4(DPYD):c.1386del (p.Glu463fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003459995]	likely pathogenic	1	97549698	97549698	Human	2	name , alternate_id
401941909	CV2834214	single nucleotide variant	NM_000110.4(DPYD):c.771C>A (p.Cys257Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467851]	likely pathogenic	1	97679174	97679174	Human	2	name , alternate_id
401941796	CV2834221	deletion	NM_000110.4(DPYD):c.2836del (p.Ala946fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467856]	likely pathogenic	1	97082401	97082401	Human	2	name , alternate_id
405713088	CV3248012	single nucleotide variant	NM_000110.4(DPYD):c.743T>C (p.Met248Thr)	Inborn genetic diseases [RCV004376967]	uncertain significance	1	97691736	97691736	Human	1	name
405713095	CV3248013	single nucleotide variant	NM_000110.4(DPYD):c.993A>G (p.Ile331Met)	Inborn genetic diseases [RCV004376968]	uncertain significance	1	97593353	97593353	Human	1	name
405713102	CV3248014	single nucleotide variant	NM_000110.4(DPYD):c.994C>T (p.Arg332Trp)	Inborn genetic diseases [RCV004376969]	uncertain significance	1	97593352	97593352	Human	1	name
405873018	CV3400336	deletion	NM_000110.4(DPYD):c.1896del (p.Pro633fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575843]	likely pathogenic	1	97450068	97450068	Human	2	name , alternate_id
405873026	CV3400341	deletion	NM_000110.4(DPYD):c.2548del (p.Asp850fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575848]	likely pathogenic	1	97193143	97193143	Human	2	name , alternate_id
405873031	CV3400344	deletion	NM_000110.4(DPYD):c.2145del (p.Asp716fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575851]	likely pathogenic	1	97306211	97306211	Human	2	name , alternate_id
405873034	CV3400347	deletion	NM_000110.4(DPYD):c.2209del (p.Thr737fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575854]	likely pathogenic	1	97305349	97305349	Human	2	name , alternate_id
405873038	CV3400349	single nucleotide variant	NM_000110.4(DPYD):c.622C>T (p.Arg208Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575856]	likely pathogenic	1	97699409	97699409	Human	2	name , alternate_id
407488757	CV3434640	single nucleotide variant	NM_000110.4(DPYD):c.726T>A (p.Asn242Lys)	Inborn genetic diseases [RCV004619791]	uncertain significance	1	97691753	97691753	Human	1	name
596926492	CV3530818	single nucleotide variant	NM_000110.4(DPYD):c.556T>G (p.Tyr186Asp)	not provided [RCV004778403]	uncertain significance	1	97699475	97699475	Human		name
596938956	CV3549919	single nucleotide variant	NM_000110.4(DPYD):c.511A>T (p.Ile171Phe)	not provided [RCV004812960]	uncertain significance	1	97699520	97699520	Human		name
596938957	CV3549920	single nucleotide variant	NM_000110.4(DPYD):c.489C>G (p.Phe163Leu)	not provided [RCV004812961]	uncertain significance	1	97699542	97699542	Human		name
12740567	CV357148	deletion	NM_000110.4(DPYD):c.2754del (p.Pro919fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000412342]	likely pathogenic	1	97098501	97098501	Human	2	name , alternate_id
12740346	CV357149	deletion	NM_000110.4(DPYD):c.2748del (p.Arg916fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411760]	likely pathogenic	1	97098507	97098507	Human	2	name , alternate_id
12740166	CV357152	duplication	NM_000110.4(DPYD):c.2589dup (p.Pro864fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411332]	likely pathogenic	1	97193101	97193102	Human	2	name , alternate_id
12740152	CV357158	duplication	NM_000110.4(DPYD):c.2039dup (p.Met680fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411299]	likely pathogenic	1	97373579	97373580	Human	2	name , alternate_id
12740219	CV357159	deletion	NM_000110.4(DPYD):c.2003del (p.Asn668fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411454]	likely pathogenic	1	97373616	97373616	Human	2	name , alternate_id
12739791	CV357160	deletion	NM_000110.4(DPYD):c.1970del (p.Ser657fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000410448]	likely pathogenic	1	97382397	97382397	Human	2	name , alternate_id
12738739	CV357163	deletion	NM_000110.4(DPYD):c.1727del (p.Phe576fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411893]	likely pathogenic	1	97515739	97515739	Human	2	name , alternate_id
12740515	CV357165	deletion	NM_000110.4(DPYD):c.1671del (p.Ser558fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000412205]	likely pathogenic	1	97515795	97515795	Human	2	name , alternate_id
12738969	CV357168	duplication	NM_000110.4(DPYD):c.1379dup (p.Leu461fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000409743]\|Neurodevelopmental delay [RCV002274021]	pathogenic\|likely pathogenic	1	97549704	97549705	Human	3	name , alternate_id
12740363	CV357171	deletion	NM_000110.4(DPYD):c.1316del (p.Gly439fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411796]	likely pathogenic	1	97573783	97573783	Human	2	name , alternate_id
12739932	CV357172	deletion	NM_000110.4(DPYD):c.1311del (p.Phe438fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000410794]	likely pathogenic	1	97573788	97573788	Human	2	name , alternate_id
12738648	CV357178	single nucleotide variant	NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000410667]	pathogenic\|likely pathogenic	1	97699370	97699370	Human	2	name , alternate_id
597650599	CV3663708	single nucleotide variant	NM_000110.4(DPYD):c.790A>G (p.Asn264Asp)	Inborn genetic diseases [RCV004974583]	uncertain significance	1	97679155	97679155	Human	1	name
598187131	CV3960918	single nucleotide variant	NM_000110.4(DPYD):c.737A>C (p.Glu246Ala)	Inborn genetic diseases [RCV005334160]	uncertain significance	1	97691742	97691742	Human	1	name
617152171	CV4018315	single nucleotide variant	NM_000110.4(DPYD):c.851G>T (p.Gly284Val)	not specified [RCV005418575]	uncertain significance	1	97595166	97595166	Human		name
12895120	CV405273	deletion	NM_000110.4(DPYD):c.2135del (p.Pro712fs)	not provided [RCV000485311]	likely pathogenic	1	97306221	97306221	Human		name
13473408	CV442900	single nucleotide variant	NM_000110.4(DPYD):c.345G>C (p.Met115Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV000765482]\|not provided [RCV000519376]	uncertain significance	1	97721648	97721648	Human	2	name , alternate_id
13789737	CV541339	deletion	NM_000110.4(DPYD):c.2178del (p.Gly727fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000666149]	likely pathogenic	1	97306178	97306178	Human	2	name , alternate_id
13788809	CV541341	deletion	NM_000110.4(DPYD):c.1178del (p.Pro393fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000674165]	likely pathogenic	1	97573921	97573921	Human	2	name , alternate_id
13783672	CV541349	single nucleotide variant	NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	Dihydropyrimidine dehydrogenase deficiency [RCV000670232]\|Inborn genetic diseases [RCV002532097]\|not specified [RCV003330887]	conflicting interpretations of pathogenicity\|uncertain significance	1	97699399	97699399	Human	3	name , alternate_id
13782646	CV541377	deletion	NM_000110.4(DPYD):c.1121del (p.Pro374fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000669120]	likely pathogenic	1	97593225	97593225	Human	2	name , alternate_id
13790843	CV541394	deletion	NM_000110.4(DPYD):c.2579del (p.Gln860fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000666839]\|not provided [RCV002264974]	pathogenic\|likely pathogenic	1	97193112	97193112	Human	2	name , alternate_id
13784970	CV541413	single nucleotide variant	NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	5-fluorouracil response [RCV003332223]\|Dihydropyrimidine dehydrogenase deficiency [RCV000671470]	likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	1	97691775	97691775	Human	2	name , alternate_id
14693436	CV620020	deletion	NM_000110.4(DPYD):c.1764del (p.Arg589fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000779011]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	97450200	97450200	Human	2	name , alternate_id
14689688	CV621090	single nucleotide variant	NM_000110.4(DPYD):c.658C>T (p.Gln220Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000780216]	likely pathogenic	1	97699373	97699373	Human	2	name , alternate_id
14690550	CV621091	single nucleotide variant	NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)	Dihydropyrimidine dehydrogenase deficiency [RCV001106101]\|not provided [RCV000971168]\|not specified [RCV000781325]	benign\|likely benign\|uncertain significance	1	97721542	97721542	Human	2	name , alternate_id
14696284	CV623099	deletion	NM_000110.4(DPYD):c.1898del (p.Pro633fs)	Dihydropyrimidine dehydrogenase deficiency [RCV002267740]\|fluorouracil response - Other [RCV000786628]	pathogenic\|drug response	1	97450066	97450066	Human	2	name , alternate_id
21071604	CV794751	single nucleotide variant	NM_000110.4(DPYD):c.623G>T (p.Arg208Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV001104938]\|Inborn genetic diseases [RCV002550660]\|not provided [RCV000994051]	uncertain significance	1	97699408	97699408	Human	3	name , alternate_id
8625079	CV80198	single nucleotide variant	NM_000110.3(DPYD):c.498G>A (p.Met166Ile)	Malignant melanoma [RCV000060274]	not provided	1	97699533	97699533	Human		name
8629742	CV84889	single nucleotide variant	NM_000110.3(DPYD):c.709C>T (p.Pro237Ser)	Malignant melanoma [RCV000064971]	not provided	1	97691770	97691770	Human		name
126736579	CV1019440	single nucleotide variant	NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV001335114]\|fluorouracil response - Other [RCV001788460]\|fluorouracil response - Toxicity [RCV001788461]	pathogenic\|drug response	1	97573943	97573943	Human	2	name , alternate_id
8646472	CV105947	single nucleotide variant	NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr)	not provided [RCV000086451]	not provided	1	97079067	97079067	Human		name
8646477	CV105951	single nucleotide variant	NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser)	not provided [RCV000086456]	not provided	1	97234965	97234965	Human		name
8646483	CV105957	single nucleotide variant	NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)	DPYD-related disorder [RCV003891585]\|Dihydropyrimidine dehydrogenase deficiency [RCV000407597]\|capecitabine response - Toxicity [RCV001787903]\|fluorouracil response - Other [RCV001787902]\|fluorouracil response - Toxicity [RCV001787904]\|not provided [RCV000086462 ... (more) ]\|not specified [RCV000249656]	benign\|likely benign\|drug response\|not provided	1	97305364	97305364	Human	2	name , trait , alternate_id
8646485	CV105959	single nucleotide variant	NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr)	not provided [RCV000086464]	uncertain significance\|not provided	1	97306195	97306195	Human		name
8646496	CV105969	single nucleotide variant	NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)	DPYD-related disorder [RCV003891586]\|Dihydropyrimidine dehydrogenase deficiency [RCV000389596]\|capecitabine response - Toxicity [RCV001787907]\|fluorouracil response - Toxicity [RCV001787908]\|not provided [RCV000086475]\|not specified [RCV000174446]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97515839	97515839	Human	2	name , trait , alternate_id
8646497	CV105970	single nucleotide variant	NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV001100346]\|not provided [RCV000086476]\|not specified [RCV001293626]	likely benign\|uncertain significance\|not provided	1	97515851	97515851	Human	2	name , alternate_id
8646498	CV105971	single nucleotide variant	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD-related disorder [RCV003891587]\|Dihydropyrimidine dehydrogenase deficiency [RCV000603277]\|capecitabine response - Toxicity [RCV001787909]\|fluorouracil response - Toxicity [RCV001787910]\|not provided [RCV000086477]\|not specified [RCV000249334]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	1	97515865	97515865	Human	2	name , trait , alternate_id
8646499	CV105972	single nucleotide variant	NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV000670379]\|not provided [RCV000086478]	uncertain significance\|not provided	1	97515911	97515911	Human	2	name , alternate_id
8646502	CV105975	single nucleotide variant	NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV003343636]\|not provided [RCV000086481]\|not specified [RCV002222385]	uncertain significance\|not provided	1	97549726	97549726	Human	2	name , alternate_id
8646505	CV105978	single nucleotide variant	NM_000110.4(DPYD):c.1218G>A (p.Met406Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV001096923]\|not provided [RCV000086484]\|not specified [RCV001293625]	benign\|uncertain significance\|not provided	1	97573881	97573881	Human	4	name , alternate_id
8646505	CV105978	single nucleotide variant	NM_000110.4(DPYD):c.1218G>A (p.Met406Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV001096923]\|not provided [RCV000086484]\|not specified [RCV001293625]	benign\|uncertain significance\|not provided	1	97573881	97573882	Human	4	name , alternate_id
150411065	CV1195895	single nucleotide variant	NM_000110.4(DPYD):c.2494A>G (p.Thr832Ala)	not provided [RCV001573464]	uncertain significance	1	97193197	97193197	Human		name
150407274	CV1199880	single nucleotide variant	NM_000110.4(DPYD):c.1925T>C (p.Met642Thr)	not provided [RCV001579723]	uncertain significance	1	97382442	97382442	Human		name
150515773	CV1216323	insertion	NM_000110.4(DPYD):c.1740+140_1740+141insA	not provided [RCV001608514]	benign	1	97515585	97515586	Human		name
150432110	CV1246180	single nucleotide variant	NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV003346639]\|Inborn genetic diseases [RCV002539651]\|not provided [RCV001663592]	uncertain significance	1	97373629	97373629	Human	3	name , alternate_id
150554888	CV1304638	single nucleotide variant	NM_000110.4(DPYD):c.2975G>A (p.Cys992Tyr)	not provided [RCV001771608]	uncertain significance	1	97079079	97079079	Human		name
151233673	CV1317929	single nucleotide variant	NM_000110.4(DPYD):c.1003G>T (p.Val335Leu)	fluorouracil response - Other [RCV001787696]	drug response	1	97593343	97593343	Human		name
151233677	CV1317931	single nucleotide variant	NM_000110.4(DPYD):c.1543G>A (p.Val515Ile)	Inborn genetic diseases [RCV002544315]\|fluorouracil response - Other [RCV001787699]	drug response\|uncertain significance	1	97515923	97515923	Human	1	name
151728092	CV1335125	single nucleotide variant	NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn)	Dihydropyrimidine dehydrogenase deficiency [RCV003146248]\|not specified [RCV001844443]	benign\|uncertain significance	1	97193206	97193206	Human	2	name , alternate_id
8603164	CV15472	single nucleotide variant	NM_000110.4(DPYD):c.2921A>T (p.Asp974Val)	Fluorouracil response [RCV000030869]	pathogenic	1	97079133	97079133	Human	1	name
8594983	CV15476	single nucleotide variant	NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	Dihydropyrimidine dehydrogenase deficiency [RCV000000466]\|not specified [RCV002281683]	pathogenic\|uncertain significance	1	97098598	97098598	Human	2	name , alternate_id
152156878	CV1668797	single nucleotide variant	NM_000110.4(DPYD):c.1280T>C (p.Val427Ala)	not specified [RCV002223023]	likely benign	1	97573819	97573819	Human		name
155745647	CV1831483	single nucleotide variant	NM_000110.4(DPYD):c.1728C>G (p.Phe576Leu)	Inborn genetic diseases [RCV002414842]	uncertain significance	1	97515738	97515738	Human	1	name
155734072	CV1842773	single nucleotide variant	NM_000110.4(DPYD):c.1906A>C (p.Ile636Leu)	Inborn genetic diseases [RCV002408344]\|not provided [RCV005409880]\|not specified [RCV005239430]	uncertain significance	1	97382461	97382461	Human	1	name
155671062	CV1843640	single nucleotide variant	NM_000110.4(DPYD):c.2047G>A (p.Ala683Thr)	Inborn genetic diseases [RCV002420024]	uncertain significance	1	97373572	97373572	Human	1	name
155685109	CV1847711	single nucleotide variant	NM_000110.4(DPYD):c.2320G>A (p.Ala774Thr)	Inborn genetic diseases [RCV002457564]	uncertain significance	1	97234974	97234974	Human	1	name
155687627	CV1853674	single nucleotide variant	NM_000110.4(DPYD):c.2950G>A (p.Asp984Asn)	Inborn genetic diseases [RCV002441870]	uncertain significance	1	97079104	97079104	Human	1	name
155664896	CV1855291	single nucleotide variant	NM_000110.4(DPYD):c.2840T>C (p.Met947Thr)	Inborn genetic diseases [RCV002435247]	uncertain significance	1	97082397	97082397	Human	1	name
155798953	CV1862249	single nucleotide variant	NM_000110.4(DPYD):c.1757T>C (p.Val586Ala)	Dihydropyrimidine dehydrogenase deficiency [RCV002471653]	uncertain significance	1	97450207	97450207	Human	2	name , alternate_id
155799071	CV1862314	single nucleotide variant	NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV002471719]	pathogenic	1	97098605	97098605	Human	2	name , alternate_id
155799518	CV1862524	single nucleotide variant	NM_000110.4(DPYD):c.2183G>T (p.Gly728Val)	Dihydropyrimidine dehydrogenase deficiency [RCV002471931]	uncertain significance	1	97305375	97305375	Human	2	name , alternate_id
156138259	CV2202808	single nucleotide variant	NM_000110.4(DPYD):c.2992A>G (p.Ile998Val)	Inborn genetic diseases [RCV002641117]	uncertain significance	1	97079062	97079062	Human	1	name
156128981	CV2220106	single nucleotide variant	NM_000110.4(DPYD):c.2269G>C (p.Ala757Pro)	Inborn genetic diseases [RCV002708340]	uncertain significance	1	97305289	97305289	Human	1	name
155939963	CV2221882	single nucleotide variant	NM_000110.4(DPYD):c.1390G>A (p.Val464Ile)	Inborn genetic diseases [RCV002751796]	uncertain significance	1	97549694	97549694	Human	1	name
156336545	CV2228561	single nucleotide variant	NM_000110.4(DPYD):c.2705T>C (p.Val902Ala)	Inborn genetic diseases [RCV002718618]	likely benign	1	97098550	97098550	Human	1	name
156241192	CV2231338	single nucleotide variant	NM_000110.4(DPYD):c.1444G>A (p.Val482Ile)	Inborn genetic diseases [RCV002713388]	likely benign	1	97549640	97549640	Human	1	name
156136955	CV2253367	single nucleotide variant	NM_000110.4(DPYD):c.1984G>A (p.Ala662Thr)	Inborn genetic diseases [RCV002825948]	uncertain significance	1	97373635	97373635	Human	1	name
156034479	CV2338716	single nucleotide variant	NM_000110.4(DPYD):c.2567C>T (p.Thr856Ile)	Inborn genetic diseases [RCV002976760]	uncertain significance	1	97193124	97193124	Human	1	name
156003469	CV2357459	single nucleotide variant	NM_000110.4(DPYD):c.2864A>G (p.Asn955Ser)	Inborn genetic diseases [RCV002997183]	uncertain significance	1	97082373	97082373	Human	1	name
156102213	CV2386830	single nucleotide variant	NM_000110.4(DPYD):c.1937A>G (p.Asn646Ser)	Inborn genetic diseases [RCV002739176]	uncertain significance	1	97382430	97382430	Human	1	name
156101555	CV2393029	single nucleotide variant	NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)	Dihydropyrimidine dehydrogenase deficiency [RCV003341528]\|Inborn genetic diseases [RCV002784948]\|not provided [RCV003228138]	uncertain significance	1	97306281	97306281	Human	3	name , alternate_id
329366593	CV2430402	single nucleotide variant	NM_000110.4(DPYD):c.2654A>G (p.Gln885Arg)	Inborn genetic diseases [RCV003182797]	uncertain significance	1	97098601	97098601	Human	1	name
329366595	CV2430403	single nucleotide variant	NM_000110.4(DPYD):c.1744A>G (p.Ile582Val)	Inborn genetic diseases [RCV003182798]	uncertain significance	1	97450220	97450220	Human	1	name
329386998	CV2452772	single nucleotide variant	NM_000110.4(DPYD):c.1729T>G (p.Ser577Ala)	Inborn genetic diseases [RCV003215038]	uncertain significance	1	97515737	97515737	Human	1	name
329351754	CV2455261	single nucleotide variant	NM_000110.4(DPYD):c.1273C>G (p.Gln425Glu)	Inborn genetic diseases [RCV003200019]	uncertain significance	1	97573826	97573826	Human	1	name
329396066	CV2463225	single nucleotide variant	NM_000110.4(DPYD):c.1820T>C (p.Phe607Ser)	Inborn genetic diseases [RCV003219388]	uncertain significance	1	97450144	97450144	Human	1	name
329846792	CV2523925	single nucleotide variant	NM_000110.4(DPYD):c.1537G>C (p.Ala513Pro)	not specified [RCV003226628]	uncertain significance	1	97515929	97515929	Human		name
11637130	CV267156	single nucleotide variant	NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)	Dihydropyrimidine dehydrogenase deficiency [RCV001004163]\|fluorouracil response - Other [RCV001788185]\|fluorouracil response - Toxicity [RCV001788186]\|not provided [RCV000280781]\|not specified [RCV002282099]	likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	1	97450190	97450190	Human	2	name , alternate_id
401733718	CV2682620	single nucleotide variant	NM_000110.4(DPYD):c.1278G>T (p.Met426Ile)	Inborn genetic diseases [RCV003249273]	likely benign	1	97573821	97573821	Human	1	name
401756153	CV2686308	single nucleotide variant	NM_000110.4(DPYD):c.2075G>T (p.Arg692Leu)	Inborn genetic diseases [RCV003255504]	uncertain significance	1	97306281	97306281	Human	1	name
401729093	CV2694017	single nucleotide variant	NM_000110.4(DPYD):c.1670C>T (p.Thr557Ile)	Inborn genetic diseases [RCV003270825]	uncertain significance	1	97515796	97515796	Human	1	name
11637152	CV271717	single nucleotide variant	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD-related disorder [RCV003920127]\|Dihydropyrimidine dehydrogenase deficiency [RCV000671369]\|Inborn genetic diseases [RCV002518984]\|fluorouracil response - Other [RCV001788190]\|not provided [RCV000281091]	likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	1	97234991	97234991	Human	3	name , trait , alternate_id
401764759	CV2728065	single nucleotide variant	NM_000110.4(DPYD):c.2948C>T (p.Thr983Ile)	Inborn genetic diseases [RCV003301021]	uncertain significance	1	97079106	97079106	Human	1	name
401755997	CV2731268	single nucleotide variant	NM_000110.4(DPYD):c.2593G>T (p.Val865Phe)	Inborn genetic diseases [RCV003278598]	uncertain significance	1	97193098	97193098	Human	1	name
401719255	CV2731269	single nucleotide variant	NM_000110.4(DPYD):c.2148T>A (p.Asp716Glu)	Inborn genetic diseases [RCV003311336]	uncertain significance	1	97306208	97306208	Human	1	name
401719258	CV2731270	single nucleotide variant	NM_000110.4(DPYD):c.1519G>A (p.Val507Ile)	Inborn genetic diseases [RCV003311337]	likely benign	1	97549565	97549565	Human	1	name
401867514	CV2748978	single nucleotide variant	NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)	Dihydropyrimidine dehydrogenase deficiency [RCV003331802]	likely pathogenic	1	97082394	97082394	Human	2	name , alternate_id
401863959	CV2763779	single nucleotide variant	NM_000110.4(DPYD):c.1907T>C (p.Ile636Thr)	Inborn genetic diseases [RCV003344140]	uncertain significance	1	97382460	97382460	Human	1	name
401863965	CV2763781	single nucleotide variant	NM_000110.4(DPYD):c.2335A>G (p.Thr779Ala)	Inborn genetic diseases [RCV003344142]	uncertain significance	1	97234959	97234959	Human	1	name
401876755	CV2793247	single nucleotide variant	NM_000110.4(DPYD):c.2848G>A (p.Glu950Lys)	Inborn genetic diseases [RCV003383539]\|not provided [RCV004812483]	uncertain significance	1	97082389	97082389	Human	1	name
401913651	CV2804214	single nucleotide variant	NM_000110.4(DPYD):c.1408C>T (p.Gln470Ter)	DPYD-related disorder [RCV003427915]\|Dihydropyrimidine dehydrogenase deficiency [RCV004572972]	likely pathogenic	1	97549676	97549676	Human	2	name , trait , alternate_id
11581827	CV281390	single nucleotide variant	NM_000110.4(DPYD):c.1538C>G (p.Ala513Gly)	Dihydropyrimidine dehydrogenase deficiency [RCV000385960]	uncertain significance	1	97515928	97515928	Human	2	name , alternate_id
11578663	CV281396	single nucleotide variant	NM_000110.4(DPYD):c.1349C>G (p.Ala450Gly)	Dihydropyrimidine dehydrogenase deficiency [RCV000286722]\|not provided [RCV005243185]	uncertain significance	1	97549735	97549735	Human	2	name , alternate_id
11663936	CV281397	single nucleotide variant	NM_000110.4(DPYD):c.1027A>T (p.Thr343Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV000401072]	uncertain significance	1	97593319	97593319	Human	2	name , alternate_id
11579254	CV282008	single nucleotide variant	NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly)	Dihydropyrimidine dehydrogenase deficiency [RCV000299078]	uncertain significance	1	97098623	97098623	Human	2	name , alternate_id
11658899	CV282009	single nucleotide variant	NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV000352966]	uncertain significance	1	97193166	97193166	Human	2	name , alternate_id
11580279	CV282021	single nucleotide variant	NM_000110.4(DPYD):c.2071G>T (p.Val691Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV000328584]\|Inborn genetic diseases [RCV002520515]\|not provided [RCV004691226]	uncertain significance	1	97306285	97306285	Human	3	name , alternate_id
11656166	CV282023	single nucleotide variant	NM_000110.4(DPYD):c.1580C>T (p.Pro527Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV000331526]	uncertain significance	1	97515886	97515886	Human	2	name , alternate_id
11581988	CV282026	single nucleotide variant	NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	Dihydropyrimidine dehydrogenase deficiency [RCV000393255]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	97549609	97549609	Human	2	name , alternate_id
405869621	CV2832111	single nucleotide variant	NM_000110.4(DPYD):c.1072C>T (p.Arg358Cys)	not provided [RCV004573122]	likely pathogenic	1	97593274	97593274	Human		name
11663891	CV283338	single nucleotide variant	NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro)	Dihydropyrimidine dehydrogenase deficiency [RCV000400560]\|not provided [RCV000711507]	uncertain significance	1	97098497	97098497	Human	2	name , alternate_id
11581340	CV283345	single nucleotide variant	NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro)	Dihydropyrimidine dehydrogenase deficiency [RCV000366115]\|Inborn genetic diseases [RCV002520516]	uncertain significance	1	97593298	97593298	Human	3	name , alternate_id
401947383	CV2834181	single nucleotide variant	NM_000110.4(DPYD):c.2674G>T (p.Glu892Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003466233]	likely pathogenic	1	97098581	97098581	Human	2	name , alternate_id
401940724	CV2834185	single nucleotide variant	NM_000110.4(DPYD):c.1575C>G (p.Tyr525Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003459988]	likely pathogenic	1	97515891	97515891	Human	2	name , alternate_id
401941785	CV2834198	single nucleotide variant	NM_000110.4(DPYD):c.2091G>A (p.Trp697Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467840]	likely pathogenic	1	97306265	97306265	Human	2	name , alternate_id
401941773	CV2834205	single nucleotide variant	NM_000110.4(DPYD):c.2065G>T (p.Glu689Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467845]	likely pathogenic	1	97306291	97306291	Human	2	name , alternate_id
401941775	CV2834206	duplication	NM_000110.4(DPYD):c.1035dup (p.Asp346Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467846]	likely pathogenic	1	97593310	97593311	Human	2	name , alternate_id
401941788	CV2834215	single nucleotide variant	NM_000110.4(DPYD):c.2653C>T (p.Gln885Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467852]	likely pathogenic	1	97098602	97098602	Human	2	name , alternate_id
401940735	CV2834226	single nucleotide variant	NM_000110.4(DPYD):c.1935C>A (p.Tyr645Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003459999]	likely pathogenic	1	97382432	97382432	Human	2	name , alternate_id
401941805	CV2834227	single nucleotide variant	NM_000110.4(DPYD):c.1502G>A (p.Trp501Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003467860]	likely pathogenic	1	97549582	97549582	Human	2	name , alternate_id
11581170	CV283499	single nucleotide variant	NM_000110.4(DPYD):c.2186C>T (p.Ala729Val)	DPYD-related disorder [RCV005355623]\|Dihydropyrimidine dehydrogenase deficiency [RCV000358751]	uncertain significance	1	97305372	97305372	Human	2	name , trait , alternate_id
11580186	CV283500	single nucleotide variant	NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	DPYD-related disorder [RCV003417960]\|Dihydropyrimidine dehydrogenase deficiency [RCV000325744]\|not provided [RCV000523466]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	97515815	97515815	Human	2	name , trait , alternate_id
11664015	CV283520	single nucleotide variant	NM_000110.4(DPYD):c.1220A>G (p.Gln407Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV000401841]	uncertain significance	1	97573879	97573879	Human	2	name , alternate_id
405655073	CV3228455	single nucleotide variant	NM_000110.4(DPYD):c.1472A>T (p.Glu491Val)	not specified [RCV003995190]	uncertain significance	1	97549612	97549612	Human		name
405713025	CV3248003	single nucleotide variant	NM_000110.4(DPYD):c.1265A>G (p.Asp422Gly)	Inborn genetic diseases [RCV004376958]	uncertain significance	1	97573834	97573834	Human	1	name
405713030	CV3248004	single nucleotide variant	NM_000110.4(DPYD):c.1405A>T (p.Met469Leu)	Inborn genetic diseases [RCV004376959]	uncertain significance	1	97549679	97549679	Human	1	name
405713051	CV3248007	single nucleotide variant	NM_000110.4(DPYD):c.1915G>T (p.Ala639Ser)	Inborn genetic diseases [RCV004376962]	uncertain significance	1	97382452	97382452	Human	1	name
405713056	CV3248008	single nucleotide variant	NM_000110.4(DPYD):c.2080A>G (p.Ile694Val)	Inborn genetic diseases [RCV004376963]	uncertain significance	1	97306276	97306276	Human	1	name
405713074	CV3248010	single nucleotide variant	NM_000110.4(DPYD):c.2314C>A (p.Pro772Thr)	Inborn genetic diseases [RCV004376965]	uncertain significance	1	97234980	97234980	Human	1	name
405698010	CV3385168	single nucleotide variant	NM_000110.4(DPYD):c.1355G>A (p.Ser452Asn)	Inborn genetic diseases [RCV004520475]	uncertain significance	1	97549729	97549729	Human	1	name
405698017	CV3385169	single nucleotide variant	NM_000110.4(DPYD):c.2023A>G (p.Met675Val)	Inborn genetic diseases [RCV004520476]	uncertain significance	1	97373596	97373596	Human	1	name
405698030	CV3385171	single nucleotide variant	NM_000110.4(DPYD):c.2416C>A (p.Leu806Ile)	Inborn genetic diseases [RCV004520478]	uncertain significance	1	97234878	97234878	Human	1	name
405853599	CV3392857	single nucleotide variant	NM_000110.4(DPYD):c.1700G>A (p.Gly567Glu)	not specified [RCV004526583]	uncertain significance	1	97515766	97515766	Human		name
405873116	CV3398406	single nucleotide variant	NM_000110.4(DPYD):c.1520T>C (p.Val507Ala)	not provided [RCV004575902]	uncertain significance	1	97549564	97549564	Human		name
405873015	CV3400334	single nucleotide variant	NM_000110.4(DPYD):c.1492C>T (p.Gln498Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575841]	likely pathogenic	1	97549592	97549592	Human	2	name , alternate_id
405873022	CV3400339	single nucleotide variant	NM_000110.4(DPYD):c.2490C>A (p.Tyr830Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575846]	likely pathogenic	1	97193201	97193201	Human	2	name , alternate_id
405873028	CV3400343	single nucleotide variant	NM_000110.4(DPYD):c.2788C>T (p.Gln930Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575850]	likely pathogenic	1	97082449	97082449	Human	2	name , alternate_id
405873032	CV3400345	single nucleotide variant	NM_000110.4(DPYD):c.1703G>A (p.Trp568Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575852]	likely pathogenic	1	97515763	97515763	Human	2	name , alternate_id
405873036	CV3400348	single nucleotide variant	NM_000110.4(DPYD):c.2440C>T (p.Gln814Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV004575855]	likely pathogenic	1	97234854	97234854	Human	2	name , alternate_id
407425394	CV3411230	single nucleotide variant	NM_000110.4(DPYD):c.2347C>T (p.Arg783Cys)	not provided [RCV004588921]	uncertain significance	1	97234947	97234947	Human		name
407488773	CV3434643	single nucleotide variant	NM_000110.4(DPYD):c.2623A>C (p.Lys875Gln)	Inborn genetic diseases [RCV004619794]	uncertain significance	1	97098632	97098632	Human	1	name
407488776	CV3434644	single nucleotide variant	NM_000110.4(DPYD):c.1975G>C (p.Asp659His)	Inborn genetic diseases [RCV004619795]	uncertain significance	1	97373644	97373644	Human	1	name
407502773	CV3495713	single nucleotide variant	NM_000110.4(DPYD):c.1865G>A (p.Cys622Tyr)	not provided [RCV004697553]	uncertain significance	1	97450099	97450099	Human		name
407574334	CV3498683	single nucleotide variant	NM_000110.4(DPYD):c.2678A>G (p.Asn893Ser)	DPYD-related disorder [RCV005358131]\|not specified [RCV004703159]	likely benign\|uncertain significance	1	97098577	97098577	Human	1	name , trait , alternate_id
407574478	CV3499489	single nucleotide variant	NM_000110.4(DPYD):c.1850C>T (p.Thr617Met)	not provided [RCV004719483]	uncertain significance	1	97450114	97450114	Human		name
408366497	CV3510469	single nucleotide variant	NM_000110.4(DPYD):c.2981G>C (p.Ser994Thr)	DPYD-related disorder [RCV004756719]	uncertain significance	1	97079073	97079073	Human		name , trait , alternate_id
408366542	CV3511893	single nucleotide variant	NM_000110.4(DPYD):c.2195T>G (p.Val732Gly)	DPYD-related disorder [RCV004756807]\|not provided [RCV004820326]	likely benign\|uncertain significance	1	97305363	97305363	Human	1	name , trait , alternate_id
408381438	CV3523867	single nucleotide variant	NM_000110.4(DPYD):c.2777G>A (p.Gly926Glu)	not provided [RCV004766265]	uncertain significance	1	97082460	97082460	Human		name
596938958	CV3549921	single nucleotide variant	NM_000110.4(DPYD):c.1494A>T (p.Gln498His)	not provided [RCV004812962]	uncertain significance	1	97549590	97549590	Human		name
12739247	CV357150	single nucleotide variant	NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000409198]	likely pathogenic	1	97098575	97098575	Human	2	name , alternate_id
12740481	CV357153	single nucleotide variant	NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000412100]	likely pathogenic	1	97193137	97193137	Human	2	name , alternate_id
12738505	CV357156	single nucleotide variant	NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000409049]\|not provided [RCV001821134]	pathogenic\|likely pathogenic	1	97305283	97305283	Human	2	name , alternate_id
12739353	CV357161	single nucleotide variant	NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000409426]\|not provided [RCV003236797]	likely pathogenic	1	97450101	97450101	Human	2	name , alternate_id
12739615	CV357162	single nucleotide variant	NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000410030]	likely pathogenic	1	97450133	97450133	Human	2	name , alternate_id
12739338	CV357164	single nucleotide variant	NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	DPYD-related disorder [RCV003409565]\|Dihydropyrimidine dehydrogenase deficiency [RCV000409394]\|not provided [RCV000760487]	pathogenic\|likely pathogenic	1	97515785	97515785	Human	2	name , trait , alternate_id
597650836	CV3663699	single nucleotide variant	NM_000110.4(DPYD):c.2600G>A (p.Arg867His)	Inborn genetic diseases [RCV004974575]	uncertain significance	1	97193091	97193091	Human	1	name
597650568	CV3663702	single nucleotide variant	NM_000110.4(DPYD):c.2892T>G (p.Asn964Lys)	Inborn genetic diseases [RCV004974578]	uncertain significance	1	97082345	97082345	Human	1	name
597650584	CV3663705	single nucleotide variant	NM_000110.4(DPYD):c.2110A>T (p.Ile704Phe)	Inborn genetic diseases [RCV004974581]	uncertain significance	1	97306246	97306246	Human	1	name
597650591	CV3663707	single nucleotide variant	NM_000110.4(DPYD):c.2870G>T (p.Gly957Val)	Inborn genetic diseases [RCV004974582]	uncertain significance	1	97082367	97082367	Human	1	name
597650606	CV3663709	single nucleotide variant	NM_000110.4(DPYD):c.1675A>G (p.Met559Val)	Inborn genetic diseases [RCV004974584]	uncertain significance	1	97515791	97515791	Human	1	name
597650613	CV3663710	single nucleotide variant	NM_000110.4(DPYD):c.2242G>A (p.Gly748Ser)	Inborn genetic diseases [RCV004974585]	uncertain significance	1	97305316	97305316	Human	1	name
597650618	CV3663711	single nucleotide variant	NM_000110.4(DPYD):c.1565C>T (p.Pro522Leu)	Inborn genetic diseases [RCV004974586]	uncertain significance	1	97515901	97515901	Human	1	name
597650622	CV3663712	single nucleotide variant	NM_000110.4(DPYD):c.1213G>T (p.Ala405Ser)	Inborn genetic diseases [RCV004974587]	uncertain significance	1	97573886	97573886	Human	1	name
597678431	CV3730878	single nucleotide variant	NM_000110.4(DPYD):c.1054C>G (p.Leu352Val)	not provided [RCV004997765]	uncertain significance	1	97593292	97593292	Human		name
598122692	CV3884624	single nucleotide variant	NM_000110.4(DPYD):c.2978T>G (p.Leu993Arg)	not specified [RCV005237316]	uncertain significance	1	97079076	97079076	Human		name
598123142	CV3890217	single nucleotide variant	NM_000110.4(DPYD):c.1031C>T (p.Ala344Val)	not provided [RCV005250736]	uncertain significance	1	97593315	97593315	Human		name
598187143	CV3960920	single nucleotide variant	NM_000110.4(DPYD):c.2182G>A (p.Gly728Ser)	Inborn genetic diseases [RCV005334162]	uncertain significance	1	97305376	97305376	Human	1	name
598187157	CV3960923	single nucleotide variant	NM_000110.4(DPYD):c.2281A>G (p.Thr761Ala)	Inborn genetic diseases [RCV005334165]	uncertain significance	1	97305277	97305277	Human	1	name
598187162	CV3960924	single nucleotide variant	NM_000110.4(DPYD):c.2267T>C (p.Ile756Thr)	Inborn genetic diseases [RCV005334166]	uncertain significance	1	97305291	97305291	Human	1	name
598187167	CV3960925	single nucleotide variant	NM_000110.4(DPYD):c.1117G>A (p.Val373Ile)	Inborn genetic diseases [RCV005334167]	uncertain significance	1	97593229	97593229	Human	1	name
598187169	CV3960926	single nucleotide variant	NM_000110.4(DPYD):c.2308A>G (p.Ile770Val)	Inborn genetic diseases [RCV005334168]	uncertain significance	1	97234986	97234986	Human	1	name
13482885	CV442898	single nucleotide variant	NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr)	Dihydropyrimidine dehydrogenase deficiency [RCV002481719]\|not provided [RCV000521908]	uncertain significance	1	97193163	97193163	Human	2	name , alternate_id
13509194	CV481603	single nucleotide variant	NM_000110.4(DPYD):c.1243G>T (p.Glu415Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV003465287]\|not provided [RCV000579165]	likely pathogenic	1	97573856	97573856	Human	2	name , alternate_id
13530177	CV511306	single nucleotide variant	NM_000110.4(DPYD):c.1415G>A (p.Ser472Asn)	Inborn genetic diseases [RCV000622294]	uncertain significance	1	97549669	97549669	Human	1	name
13785173	CV541312	duplication	NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000671729]	uncertain significance	1	97079022	97079023	Human	2	name , alternate_id
13789541	CV541325	single nucleotide variant	NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)	Dihydropyrimidine dehydrogenase deficiency [RCV000674560]	uncertain significance	1	97082415	97082415	Human	2	name , alternate_id
13790022	CV541328	single nucleotide variant	NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV000674813]\|not provided [RCV004691273]\|not specified [RCV001553732]	uncertain significance	1	97234916	97234916	Human	2	name , alternate_id
13789350	CV541344	single nucleotide variant	NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly)	Dihydropyrimidine dehydrogenase deficiency [RCV000665953]	uncertain significance	1	97306188	97306188	Human	2	name , alternate_id
13790475	CV541346	single nucleotide variant	NM_000110.4(DPYD):c.1070G>A (p.Arg357His)	Dihydropyrimidine dehydrogenase deficiency [RCV000666570]	uncertain significance	1	97593276	97593276	Human	2	name , alternate_id
13788614	CV541350	single nucleotide variant	NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)	Dihydropyrimidine dehydrogenase deficiency [RCV000665480]\|not provided [RCV003411569]\|not specified [RCV002232631]	likely benign\|uncertain significance	1	97450168	97450168	Human	2	name , alternate_id
13792099	CV541352	single nucleotide variant	NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)	Dihydropyrimidine dehydrogenase deficiency [RCV000668285]\|not specified [RCV001779047]	uncertain significance	1	97593238	97593238	Human	2	name , alternate_id
13790747	CV541385	single nucleotide variant	NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)	Dihydropyrimidine dehydrogenase deficiency [RCV000666781]	uncertain significance	1	97082365	97082365	Human	2	name , alternate_id
13788506	CV541391	single nucleotide variant	NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000665415]	likely pathogenic	1	97098533	97098533	Human	2	name , alternate_id
13783846	CV541399	single nucleotide variant	NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln)	Dihydropyrimidine dehydrogenase deficiency [RCV000670381]	uncertain significance	1	97450189	97450189	Human	2	name , alternate_id
13789535	CV541401	single nucleotide variant	NM_000110.4(DPYD):c.1538C>T (p.Ala513Val)	Dihydropyrimidine dehydrogenase deficiency [RCV000674558]\|Inborn genetic diseases [RCV002531355]	uncertain significance	1	97515928	97515928	Human	3	name , alternate_id
13788760	CV541411	single nucleotide variant	NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn)	Dihydropyrimidine dehydrogenase deficiency [RCV000665570]	uncertain significance	1	97593322	97593322	Human	2	name , alternate_id
13809286	CV576555	single nucleotide variant	NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys)	not provided [RCV000711506]	uncertain significance	1	97193092	97193092	Human		name
13809283	CV576556	single nucleotide variant	NM_000110.4(DPYD):c.1654A>G (p.Thr552Ala)	not provided [RCV000711505]	uncertain significance	1	97515812	97515812	Human		name
13809344	CV576557	single nucleotide variant	NM_000110.4(DPYD):c.1310C>T (p.Ala437Val)	Dihydropyrimidine dehydrogenase deficiency [RCV001329028]\|not provided [RCV000711504]	uncertain significance	1	97573789	97573789	Human	2	name , alternate_id
13809323	CV576558	single nucleotide variant	NM_000110.4(DPYD):c.1180C>T (p.Arg394Trp)	not provided [RCV000711503]	uncertain significance	1	97573919	97573919	Human		name
13832901	CV584126	single nucleotide variant	NM_000110.4(DPYD):c.2564C>G (p.Ala855Gly)	not provided [RCV000727995]	uncertain significance	1	97193127	97193127	Human		name
14688097	CV620021	single nucleotide variant	NM_000110.4(DPYD):c.1503G>A (p.Trp501Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV000778264]	uncertain significance	1	97549581	97549581	Human	1	name , alternate_id
14696473	CV623098	single nucleotide variant	NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)	Dihydropyrimidine dehydrogenase deficiency [RCV003479218]\|fluorouracil response - Other [RCV000786704]	likely pathogenic\|drug response	1	97079071	97079071	Human	2	name , alternate_id
15190220	CV719145	single nucleotide variant	NM_000110.4(DPYD):c.2915A>G (p.Gln972Arg)	not provided [RCV000888040]\|not specified [RCV003994146]	likely benign\|uncertain significance	1	97079139	97079139	Human		name
21074050	CV792904	single nucleotide variant	NM_000110.4(DPYD):c.2074C>T (p.Arg692Trp)	not provided [RCV000991925]	uncertain significance	1	97306282	97306282	Human		name
8625078	CV80197	single nucleotide variant	NM_000110.3(DPYD):c.2383G>A (p.Gly795Arg)	Malignant melanoma [RCV000060273]	not provided	1	97234911	97234911	Human		name
8629738	CV84885	single nucleotide variant	NM_000110.3(DPYD):c.2365C>T (p.Pro789Ser)	Malignant melanoma [RCV000064967]	not provided	1	97234929	97234929	Human		name
8629739	CV84886	single nucleotide variant	NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln)	Dihydropyrimidine dehydrogenase deficiency [RCV000670569]	uncertain significance\|not provided	1	97305282	97305282	Human	2	name , alternate_id
28896496	CV864897	single nucleotide variant	NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp)	Dihydropyrimidine dehydrogenase deficiency [RCV001102226]	uncertain significance	1	97082430	97082430	Human	2	name , alternate_id
28881327	CV864898	single nucleotide variant	NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV001096820]	uncertain significance	1	97098621	97098621	Human	2	name , alternate_id
28881331	CV864899	single nucleotide variant	NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile)	Dihydropyrimidine dehydrogenase deficiency [RCV001096821]\|not provided [RCV002554903]	likely benign\|uncertain significance	1	97305279	97305279	Human	2	name , alternate_id
28886808	CV864900	single nucleotide variant	NM_000110.4(DPYD):c.2084G>T (p.Cys695Phe)	Dihydropyrimidine dehydrogenase deficiency [RCV001098579]	uncertain significance	1	97306272	97306272	Human	2	name , alternate_id
28891872	CV864901	single nucleotide variant	NM_000110.4(DPYD):c.1733T>C (p.Leu578Pro)	Dihydropyrimidine dehydrogenase deficiency [RCV001100345]	uncertain significance	1	97515733	97515733	Human	2	name , alternate_id
28896741	CV864902	single nucleotide variant	NM_000110.4(DPYD):c.1369A>G (p.Asn457Asp)	Dihydropyrimidine dehydrogenase deficiency [RCV001102323]	uncertain significance	1	97549715	97549715	Human	2	name , alternate_id
28896744	CV864903	single nucleotide variant	NM_000110.4(DPYD):c.1349C>T (p.Ala450Val)	DPYD-related disorder [RCV003973066]\|Dihydropyrimidine dehydrogenase deficiency [RCV001102324]\|not provided [RCV004691377]	likely benign\|uncertain significance	1	97549735	97549735	Human	2	name , trait , alternate_id
28896748	CV864904	single nucleotide variant	NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr)	Dihydropyrimidine dehydrogenase deficiency [RCV001102325]\|Inborn genetic diseases [RCV002554992]	uncertain significance	1	97573762	97573762	Human	3	name , alternate_id
28881623	CV864905	single nucleotide variant	NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln)	Dihydropyrimidine dehydrogenase deficiency [RCV001096921]\|Inborn genetic diseases [RCV003346309]\|not provided [RCV003127631]	uncertain significance	1	97573870	97573870	Human	3	name , alternate_id
28881627	CV864906	single nucleotide variant	NM_000110.4(DPYD):c.1228C>T (p.Arg410Trp)	Dihydropyrimidine dehydrogenase deficiency [RCV001096922]	uncertain significance	1	97573871	97573871	Human	2	name , alternate_id
8646473	CV94529	single nucleotide variant	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD-related disorder [RCV005222738]\|Dihydropyrimidine dehydrogenase deficiency [RCV000410600]\|Fluorouracil response [RCV000500980]\|Inborn genetic diseases [RCV000623094]\|capecitabine response - Toxicity [RCV001787864]\|fluorouracil response - Other [RCV001787863 ... (more) ]\|fluorouracil response - Toxicity [RCV001787336]\|not provided [RCV000086452]\|tegafur response - Toxicity [RCV001787865]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|no classifications from unflagged records\|other\|not provided	1	97082391	97082391	Human	3	name , trait , alternate_id
8646495	CV94530	single nucleotide variant	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV000410952]\|Inborn genetic diseases [RCV004619197]\|capecitabine response - Toxicity [RCV001787867]\|fluorouracil response - Other [RCV001787866]\|fluorouracil response - Toxicity [RCV001787326]\|not provided [RCV000086474]\|tegafur response - Toxicity [RCV00 ... (more) 1787868]	pathogenic\|likely pathogenic\|drug response\|not provided	1	97515787	97515787	Human	3	name , alternate_id
38465259	CV961751	single nucleotide variant	NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly)	Dihydropyrimidine dehydrogenase deficiency [RCV001250081]\|not provided [RCV003159195]	uncertain significance	1	97573960	97573960	Human	2	name , alternate_id
38597961	CV964161	single nucleotide variant	NM_000110.4(DPYD):c.2357C>A (p.Pro786His)	Dihydropyrimidine dehydrogenase deficiency [RCV001253275]	uncertain significance	1	97234937	97234937	Human	2	name , alternate_id
40886773	CV973229	single nucleotide variant	NM_000110.4(DPYD):c.1129A>G (p.Met377Val)	Inborn genetic diseases [RCV001266011]	uncertain significance	1	97573970	97573970	Human	1	name
126914324	CV1037061	single nucleotide variant	NM_000110.4(DPYD):c.2998G>A (p.Asp1000Asn)	not provided [RCV001358155]	uncertain significance	1	97079056	97079056	Human		name
8646471	CV105946	single nucleotide variant	NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)	Dihydropyrimidine dehydrogenase deficiency [RCV001102225]\|not provided [RCV000086450]\|not specified [RCV001804837]	benign\|likely benign\|uncertain significance\|not provided	1	97078987	97078987	Human	2	name , alternate_id
152156801	CV1668749	single nucleotide variant	NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter)	not specified [RCV002222975]	uncertain significance	1	97079020	97079020	Human		name
155697147	CV1854833	single nucleotide variant	NM_000110.4(DPYD):c.3049G>A (p.Val1017Ile)	Inborn genetic diseases [RCV002444071]	uncertain significance	1	97079005	97079005	Human	1	name
155697440	CV1854887	single nucleotide variant	NM_000110.4(DPYD):c.3052C>G (p.Pro1018Ala)	Inborn genetic diseases [RCV002444125]	uncertain significance	1	97079002	97079002	Human	1	name
405713080	CV3248011	single nucleotide variant	NM_000110.4(DPYD):c.3062T>C (p.Val1021Ala)	Inborn genetic diseases [RCV004376966]\|not provided [RCV004759378]	likely benign\|uncertain significance	1	97078992	97078992	Human	1	name
28896491	CV864896	single nucleotide variant	NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV001102224]\|Inborn genetic diseases [RCV002556054]\|not specified [RCV001732044]	uncertain significance	1	97078987	97078987	Human	3	name , alternate_id
150543963	CV1313064	duplication	NM_000110.4(DPYD):c.168_175dup (p.Phe59Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV001783141]	pathogenic	1	97828171	97828172	Human	1	name , alternate_id
401947385	CV2834182	duplication	NM_000110.4(DPYD):c.441_444dup (p.Pro149fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466234]	likely pathogenic	1	97721548	97721549	Human	2	name , alternate_id
405873016	CV3400335	microsatellite	NM_000110.4(DPYD):c.574_575del (p.Leu192fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575842]	likely pathogenic	1	97699456	97699457	Human		name , alternate_id
13518115	CV486871	microsatellite	NM_000110.4(DPYD):c.299_302del (p.Phe100fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000589260]\|not provided [RCV001836843]	pathogenic\|drug response	1	97740411	97740414	Human		name , alternate_id
10042645	CV186635	deletion	NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000169225]\|not provided [RCV003105806]	pathogenic\|likely pathogenic	1	97373561	97373576	Human	2	name , alternate_id
401947373	CV2834174	duplication	NM_000110.4(DPYD):c.1353_1360dup (p.Ile454fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466228]	likely pathogenic	1	97549723	97549724	Human	2	name , alternate_id
401947379	CV2834179	deletion	NM_000110.4(DPYD):c.1375_1388del (p.Trp459fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466231]	likely pathogenic	1	97549696	97549709	Human	2	name , alternate_id
401947387	CV2834183	deletion	NM_000110.4(DPYD):c.2338_2339del (p.Ser780fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003466235]	likely pathogenic	1	97234955	97234956	Human	2	name , alternate_id
401940725	CV2834187	deletion	NM_000110.4(DPYD):c.2732_2733del (p.Cys911fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003459989]	likely pathogenic	1	97098522	97098523	Human	2	name , alternate_id
405873024	CV3400340	deletion	NM_000110.4(DPYD):c.1600_1610del (p.Ser534fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575847]	likely pathogenic	1	97515856	97515866	Human	2	name , alternate_id
12738724	CV357173	microsatellite	NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000411600]	pathogenic\|likely pathogenic	1	97593236	97593237	Human		name , alternate_id
13790391	CV541410	microsatellite	NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000675011]	likely pathogenic	1	97593304	97593305	Human		name , alternate_id
156451172	CV2402556	deletion	NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs)	not specified [RCV003123361]	uncertain significance	1	97079013	97079014	Human		name
401940729	CV2834201	indel	NM_000110.4(DPYD):c.119_120delinsC (p.His40fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003459993]	likely pathogenic	1	97883294	97883295	Human		name , alternate_id
12740528	CV357155	insertion	NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000412243]	likely pathogenic	1	97305271	97305272	Human	2	name , alternate_id
401941777	CV2834207	indel	NM_000110.4(DPYD):c.213_220delinsCAAT (p.Ala72fs)	Dihydropyrimidine dehydrogenase deficiency [RCV003467847]	likely pathogenic	1	97828127	97828134	Human		name , alternate_id
401947389	CV2834186	deletion	NM_000110.4(DPYD):c.812del (p.Thr270_Leu271insTer)	Dihydropyrimidine dehydrogenase deficiency [RCV003466236]	pathogenic	1	97679133	97679133	Human	2	name , alternate_id
405873033	CV3400346	indel	NM_000110.4(DPYD):c.1568_1574delinsAC (p.Leu523fs)	Dihydropyrimidine dehydrogenase deficiency [RCV004575853]	likely pathogenic	1	97515892	97515898	Human		name , alternate_id
12739563	CV357154	indel	NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs)	Dihydropyrimidine dehydrogenase deficiency [RCV000409891]	likely pathogenic	1	97234956	97234959	Human		name , alternate_id
12739328	CV357167	deletion	NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer)	Dihydropyrimidine dehydrogenase deficiency [RCV000409377]	likely pathogenic	1	97549566	97549566	Human	2	name , alternate_id
13521942	CV494099	deletion	NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	Dihydropyrimidine dehydrogenase deficiency [RCV000591104]\|See cases [RCV002252176]\|not provided [RCV000727535]	pathogenic\|likely pathogenic	1	97883280	97883287	Human	2	name , alternate_id
401941800	CV2834223	deletion	NM_000110.4(DPYD):c.351_352del (p.Phe117_Ser118insTer)	Dihydropyrimidine dehydrogenase deficiency [RCV003467858]	likely pathogenic	1	97721641	97721642	Human	2	name , alternate_id
126736573	CV1019441	microsatellite	NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer)	Dihydropyrimidine dehydrogenase deficiency [RCV002308674]	pathogenic\|likely pathogenic	1	97573943	97573944	Human		name , alternate_id
329952055	CV2668792	deletion	NC_000001.10:g.(97658805_97700407)_(97700551_97770814)del	Dihydropyrimidine dehydrogenase deficiency [RCV003230873]	likely pathogenic				Human	2	alternate_id
405746888	CV2750255	deletion	NM_000110.4:c.850+23455_1128+8811del	Dihydropyrimidine dehydrogenase deficiency [RCV003991490]	likely pathogenic				Human	2	alternate_id
407476499	CV3494911	duplication	NC_000001.10:g.(97915780_97981281)_(98015301_98039315)dup	Dihydropyrimidine dehydrogenase deficiency [RCV004690812]	likely pathogenic				Human	2	alternate_id

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