Uchl1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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201 records found for search term Uchl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595851	CV294806	single nucleotide variant	NM_004181.5(UCHL1):c.-16C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000375330]\|not provided [RCV001636973]	benign\|likely benign	4	41256961	41256961	Human	1	name
11596273	CV298441	single nucleotide variant	NM_004181.4(UCHL1):c.-71C>G	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000380128]\|not provided [RCV004716224]	benign\|uncertain significance	4	41256906	41256906	Human	1	name
11585808	CV298505	single nucleotide variant	NM_004181.5(UCHL1):c.-47C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000283383]	uncertain significance	4	41256930	41256930	Human	1	name
11592251	CV298506	single nucleotide variant	NM_004181.5(UCHL1):c.-24A>G	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000337079]\|not provided [RCV001692000]	benign\|likely benign	4	41256953	41256953	Human	1	name
28875286	CV890654	single nucleotide variant	NM_004181.4(UCHL1):c.-59C>G	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147585]	uncertain significance	4	41256918	41256918	Human	1	name
28875290	CV890655	single nucleotide variant	NM_004181.4(UCHL1):c.-51C>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147586]	uncertain significance	4	41256926	41256926	Human	1	name
28885581	CV890656	single nucleotide variant	NM_004181.5(UCHL1):c.-46T>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150909]	uncertain significance	4	41256931	41256931	Human	1	name
28885585	CV890657	single nucleotide variant	NM_004181.5(UCHL1):c.-26C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150910]	uncertain significance	4	41256951	41256951	Human	1	name
28885588	CV890658	single nucleotide variant	NM_004181.5(UCHL1):c.-25T>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150911]	uncertain significance	4	41256952	41256952	Human	1	name
28885591	CV890659	single nucleotide variant	NM_004181.5(UCHL1):c.-17C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150912]	uncertain significance	4	41256960	41256960	Human	1	name
28873477	CV890662	single nucleotide variant	NM_004181.5(UCHL1):c.*84C>G	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146778]	uncertain significance	4	41268157	41268157	Human	1	name
8579806	CV114208	single nucleotide variant	NM_004181.4(UCHL1):c.*362A>G	Lung cancer [RCV000094731]	uncertain significance	4	41268435	41268435	Human		name
151232565	CV1316840	single nucleotide variant	NM_004181.5(UCHL1):c.*245C>T	not provided [RCV001786660]	likely benign	4	41268318	41268318	Human		name
152115175	CV1600478	single nucleotide variant	NM_004181.5(UCHL1):c.46-6C>T	not provided [RCV002097379]	likely benign	4	41257603	41257603	Human		name
156448948	CV1948259	single nucleotide variant	NM_004181.5(UCHL1):c.34-7C>G	not provided [RCV003121056]	likely benign	4	41257108	41257108	Human		name
156067086	CV1952373	single nucleotide variant	NM_004181.5(UCHL1):c.34-8C>G	not provided [RCV002569490]	likely benign	4	41257107	41257107	Human		name
156292040	CV1958558	single nucleotide variant	NM_004181.5(UCHL1):c.45+3G>A	not provided [RCV002577870]	uncertain significance	4	41257129	41257129	Human		name
11592169	CV293414	single nucleotide variant	NM_004181.5(UCHL1):c.45+6T>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000336010]\|not provided [RCV001660730]	benign\|likely benign	4	41257132	41257132	Human	1	name
11652889	CV293418	single nucleotide variant	NM_004181.5(UCHL1):c.*125C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000307478]	uncertain significance	4	41268198	41268198	Human	1	name
11647849	CV294808	single nucleotide variant	NM_004181.5(UCHL1):c.33+5G>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000278546]	uncertain significance	4	41257014	41257014	Human	1	name
11583580	CV294817	single nucleotide variant	NM_004181.5(UCHL1):c.*309T>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000267670]	benign\|likely benign	4	41268382	41268382	Human	1	name
11594513	CV298513	single nucleotide variant	NM_004181.5(UCHL1):c.*294G>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000360018]\|not provided [RCV004716225]	benign\|likely benign	4	41268367	41268367	Human	1	name
405282969	CV3191194	single nucleotide variant	NM_004181.5(UCHL1):c.46-4G>A	UCHL1-related disorder [RCV003921603]	likely benign	4	41257605	41257605	Human		name , trait , alternate_id
597880996	CV3763797	single nucleotide variant	NM_004181.5(UCHL1):c.33+4A>G	not provided [RCV005109197]	uncertain significance	4	41257013	41257013	Human		name
28875469	CV890663	single nucleotide variant	NM_004181.5(UCHL1):c.*250T>C	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147679]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002480543]	uncertain significance	4	41268323	41268323	Human	1	name
28875473	CV890664	single nucleotide variant	NM_004181.5(UCHL1):c.*276T>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147680]	likely benign	4	41268349	41268349	Human	1	name
150406599	CV1199928	duplication	NM_004181.5(UCHL1):c.326-4dup	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV002225137]\|not provided [RCV001579417]\|not specified [RCV001727905]	benign\|likely benign	4	41261701	41261702	Human	1	name
150469736	CV1243206	single nucleotide variant	NM_004181.5(UCHL1):c.45+97C>G	not provided [RCV001650726]	benign	4	41257223	41257223	Human		name
150466834	CV1268840	single nucleotide variant	NM_004181.5(UCHL1):c.45+19C>A	not provided [RCV001694537]	benign	4	41257145	41257145	Human		name
150534571	CV1308522	single nucleotide variant	NM_004181.5(UCHL1):c.34-19C>T	not provided [RCV001757567]	benign\|likely benign	4	41257096	41257096	Human		name
151233089	CV1316973	single nucleotide variant	NM_004181.5(UCHL1):c.45+95C>T	not provided [RCV001786793]	likely benign	4	41257221	41257221	Human		name
151718797	CV1419807	single nucleotide variant	NM_004181.5(UCHL1):c.411+8A>T	not provided [RCV001965643]	likely benign	4	41261808	41261808	Human		name
151740483	CV1490565	single nucleotide variant	NM_004181.5(UCHL1):c.460-2A>G	not provided [RCV001985193]	likely pathogenic\|uncertain significance	4	41263223	41263223	Human		name
152073430	CV1615430	single nucleotide variant	NM_004181.5(UCHL1):c.175-4G>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV002500142]\|not provided [RCV002091902]	likely benign	4	41260643	41260643	Human	1	name
152073577	CV1638027	single nucleotide variant	NM_004181.5(UCHL1):c.325+7G>A	not provided [RCV002192116]	likely benign	4	41260804	41260804	Human		name
155978276	CV1972277	single nucleotide variant	NM_004181.5(UCHL1):c.46-15G>T	not provided [RCV002617484]	likely benign	4	41257594	41257594	Human		name
156227327	CV2048404	single nucleotide variant	NM_004181.5(UCHL1):c.33+19G>A	not provided [RCV002790862]	likely benign	4	41257028	41257028	Human		name
156053849	CV2064708	single nucleotide variant	NM_004181.5(UCHL1):c.586-8C>T	not provided [RCV002846528]	likely benign	4	41267979	41267979	Human		name
156265465	CV2134955	single nucleotide variant	NM_004181.5(UCHL1):c.459+3A>G	Inborn genetic diseases [RCV002988624]\|not provided [RCV002988625]	uncertain significance	4	41261926	41261926	Human	1	name
402512957	CV2858993	single nucleotide variant	NM_004181.5(UCHL1):c.33+15C>T	not provided [RCV003547091]	likely benign	4	41257024	41257024	Human		name
405127783	CV2882901	duplication	NM_004181.5(UCHL1):c.412-5dup	not provided [RCV003559643]	likely benign	4	41261869	41261870	Human		name
11593419	CV293417	deletion	NM_004181.5(UCHL1):c.326-4del	Parkinson Disease, Dominant [RCV000348738]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002480217]\|not provided [RCV002057929]	benign\|likely benign	4	41261702	41261702	Human	2	name
11587588	CV298445	single nucleotide variant	NM_004181.5(UCHL1):c.175-5C>T	Inborn genetic diseases [RCV002520242]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV000296152]\|not provided [RCV000916150]	benign\|likely benign\|uncertain significance	4	41260642	41260642	Human	2	name
11589147	CV298447	single nucleotide variant	NM_004181.5(UCHL1):c.527-3C>T	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000308637]	uncertain significance	4	41264100	41264100	Human	1	name
405139664	CV3125561	single nucleotide variant	NM_004181.5(UCHL1):c.46-13C>T	not provided [RCV003816668]	likely benign	4	41257596	41257596	Human		name
405274194	CV3195022	single nucleotide variant	NM_004181.5(UCHL1):c.585+4A>T	UCHL1-related disorder [RCV003902263]	likely benign	4	41264165	41264165	Human		name , trait , alternate_id
597853739	CV3747539	single nucleotide variant	NM_004181.5(UCHL1):c.412-5C>T	not provided [RCV005066550]	likely benign	4	41261871	41261871	Human		name
597958461	CV3751888	single nucleotide variant	NM_004181.5(UCHL1):c.174+7C>T	not provided [RCV005081018]	likely benign	4	41257744	41257744	Human		name
597929858	CV3780173	single nucleotide variant	NM_004181.5(UCHL1):c.174+4G>A	not provided [RCV005116493]	uncertain significance	4	41257741	41257741	Human		name
598204848	CV3896739	single nucleotide variant	NM_004181.5(UCHL1):c.325+1G>A	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV005356925]	likely pathogenic	4	41260798	41260798	Human	1	name
13527731	CV513218	single nucleotide variant	NM_004181.5(UCHL1):c.459+2T>C	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000625742]	likely pathogenic	4	41261925	41261925	Human	1	name
15178575	CV744105	single nucleotide variant	NM_004181.5(UCHL1):c.412-4G>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144814]\|not provided [RCV000906908]	likely benign\|uncertain significance	4	41261872	41261872	Human	1	name
28905232	CV891793	single nucleotide variant	NM_004181.5(UCHL1):c.174+6G>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144811]	uncertain significance	4	41257743	41257743	Human	1	name
28873474	CV891794	single nucleotide variant	NM_004181.5(UCHL1):c.586-4C>A	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146777]	uncertain significance	4	41267983	41267983	Human	1	name
150508954	CV1214176	single nucleotide variant	NM_004181.5(UCHL1):c.527-74C>A	not provided [RCV001596697]	benign	4	41264029	41264029	Human		name
150531729	CV1311265	single nucleotide variant	NM_004181.5(UCHL1):c.46-199C>G	not provided [RCV001777000]	likely benign	4	41257410	41257410	Human		name
151232567	CV1316842	single nucleotide variant	NM_004181.5(UCHL1):c.174+46C>A	not provided [RCV001786662]	likely benign	4	41257783	41257783	Human		name
151750953	CV1335609	single nucleotide variant	NM_004181.5(UCHL1):c.586-35G>A	not provided [RCV001847451]	likely benign	4	41267952	41267952	Human		name
151761309	CV1502878	single nucleotide variant	NM_004181.5(UCHL1):c.411+19C>T	not provided [RCV001914017]	likely benign\|uncertain significance	4	41261819	41261819	Human		name
152056510	CV1523050	single nucleotide variant	NM_004181.5(UCHL1):c.175-10A>G	not provided [RCV002167505]	likely benign	4	41260637	41260637	Human		name
152038715	CV1530579	single nucleotide variant	NM_004181.5(UCHL1):c.175-18C>T	not provided [RCV002087634]	benign	4	41260629	41260629	Human		name
152134626	CV1564763	single nucleotide variant	NM_004181.5(UCHL1):c.175-18C>A	not provided [RCV002199781]	likely benign	4	41260629	41260629	Human		name
152083262	CV1623791	single nucleotide variant	NM_004181.5(UCHL1):c.175-17G>A	not provided [RCV002149589]	likely benign	4	41260630	41260630	Human		name
152170641	CV1651221	deletion	NM_004181.5(UCHL1):c.459+11del	not provided [RCV002143182]	likely benign	4	41261932	41261932	Human		name
156396885	CV1985256	single nucleotide variant	NM_004181.5(UCHL1):c.459+20G>A	not provided [RCV002635567]	likely benign	4	41261943	41261943	Human		name
156229234	CV2002312	single nucleotide variant	NM_004181.5(UCHL1):c.325+13T>G	not provided [RCV002667514]	likely benign	4	41260810	41260810	Human		name
156387791	CV2122145	single nucleotide variant	NM_004181.5(UCHL1):c.326-16C>G	not provided [RCV002943622]	likely benign	4	41261699	41261699	Human		name
156153553	CV2131911	single nucleotide variant	NM_004181.5(UCHL1):c.585+11G>A	not provided [RCV002982738]	likely benign	4	41264172	41264172	Human		name
156003647	CV2166530	single nucleotide variant	NM_004181.5(UCHL1):c.326-16C>A	not provided [RCV003017393]	likely benign	4	41261699	41261699	Human		name
405219342	CV2903893	single nucleotide variant	NM_004181.5(UCHL1):c.460-19A>G	not provided [RCV003568170]	uncertain significance	4	41263206	41263206	Human		name
402514334	CV2991435	single nucleotide variant	NM_004181.5(UCHL1):c.325+10G>A	not provided [RCV003689738]	likely benign	4	41260807	41260807	Human		name
405196418	CV3128710	single nucleotide variant	NM_004181.5(UCHL1):c.459+19C>A	not provided [RCV003821448]	likely benign	4	41261942	41261942	Human		name
405187820	CV3149127	single nucleotide variant	NM_004181.5(UCHL1):c.411+14C>T	not provided [RCV003843053]	likely benign	4	41261814	41261814	Human		name
405236952	CV3169060	single nucleotide variant	NM_004181.5(UCHL1):c.526+12T>C	not provided [RCV003866339]	likely benign	4	41263303	41263303	Human		name
404988669	CV3179839	single nucleotide variant	NM_004181.5(UCHL1):c.459+19C>T	not provided [RCV003881316]	likely benign	4	41261942	41261942	Human		name
597844553	CV3736099	single nucleotide variant	NM_004181.5(UCHL1):c.526+11C>T	not provided [RCV005065447]	likely benign	4	41263302	41263302	Human		name
597879089	CV3744475	single nucleotide variant	NM_004181.5(UCHL1):c.412-11T>C	not provided [RCV005069689]	likely benign	4	41261865	41261865	Human		name
597908813	CV3749457	single nucleotide variant	NM_004181.5(UCHL1):c.326-14A>T	not provided [RCV005073305]	likely benign	4	41261701	41261701	Human		name
150514755	CV1212121	single nucleotide variant	NM_004181.5(UCHL1):c.527-199A>G	not provided [RCV001599190]	benign	4	41263904	41263904	Human		name
150501538	CV1213382	single nucleotide variant	NM_004181.5(UCHL1):c.527-131C>G	not provided [RCV001594794]	benign	4	41263972	41263972	Human		name
150514365	CV1228184	single nucleotide variant	NM_004181.5(UCHL1):c.527-126C>A	not provided [RCV001638462]	benign	4	41263977	41263977	Human		name
150443515	CV1249292	single nucleotide variant	NM_004181.5(UCHL1):c.585+117C>T	not provided [RCV001666724]	benign	4	41264278	41264278	Human		name
150500519	CV1256114	single nucleotide variant	NM_004181.5(UCHL1):c.174+183G>A	not provided [RCV001676738]	benign	4	41257920	41257920	Human		name
150465759	CV1277292	single nucleotide variant	NM_004181.5(UCHL1):c.460-149T>C	not provided [RCV001710586]	benign	4	41263076	41263076	Human		name
151750938	CV1335607	single nucleotide variant	NM_004181.5(UCHL1):c.326-177G>A	not provided [RCV001847449]	likely benign	4	41261538	41261538	Human		name
151750945	CV1335608	single nucleotide variant	NM_004181.5(UCHL1):c.326-133C>T	not provided [RCV001847450]	likely benign	4	41261582	41261582	Human		name
616940096	CV4014600	deletion	NM_004181.5(UCHL1):c.44_45+2del	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV005414094]	likely pathogenic	4	41257125	41257128	Human	1	name
596947307	CV3548857	microsatellite	NM_004181.5(UCHL1):c.45+4_45+7del	not provided [RCV004811181]	uncertain significance	4	41257126	41257129	Human		name
152134381	CV1645942	duplication	NM_004181.5(UCHL1):c.45+15_45+24dup	not provided [RCV002177228]	likely benign	4	41257134	41257135	Human		name
152110167	CV1665291	duplication	NM_004181.5(UCHL1):c.326-5_326-4dup	not provided [RCV002080137]	benign	4	41261701	41261702	Human		name
156045132	CV2068024	duplication	NM_004181.5(UCHL1):c.527-7_527-5dup	not provided [RCV002846243]	likely benign	4	41264093	41264094	Human		name
405193239	CV2975056	deletion	NM_004181.5(UCHL1):c.526+3_526+4del	not provided [RCV003677402]	uncertain significance	4	41263293	41263294	Human		name
8579805	CV114207	single nucleotide variant	NR_102709.1(UCHL1-AS1):n.169+6605A>G	Lung cancer [RCV000094730]	uncertain significance	4	41249954	41249954	Human		name
156322330	CV1976226	single nucleotide variant	NM_004181.5(UCHL1):c.66C>A (p.Val22=)	not provided [RCV002600315]	likely benign	4	41257629	41257629	Human		name
156067780	CV2018417	microsatellite	NM_004181.5(UCHL1):c.585+24_585+26del	not provided [RCV002705586]	likely benign	4	41264181	41264183	Human		name
156055847	CV2050478	deletion	NM_004181.5(UCHL1):c.411+14_411+15del	not provided [RCV002796923]	likely benign	4	41261813	41261814	Human		name
408385053	CV3506675	deletion	NM_004181.5(UCHL1):c.24del (p.Asn9fs)	UCHL1-related disorder [RCV004732286]	likely pathogenic	4	41257000	41257000	Human		name , trait , alternate_id
15175776	CV698518	single nucleotide variant	NM_004181.5(UCHL1):c.69C>T (p.Ala23=)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144810]\|not provided [RCV000950668]	likely benign	4	41257632	41257632	Human	1	name
150529265	CV1288820	single nucleotide variant	NM_004181.5(UCHL1):c.23T>C (p.Ile8Thr)	not provided [RCV001727288]	uncertain significance	4	41256999	41256999	Human		name
151859160	CV1403478	deletion	NM_004181.5(UCHL1):c.30del (p.Glu11fs)	not provided [RCV001979899]	pathogenic\|uncertain significance	4	41257003	41257003	Human		name
156126225	CV1969432	single nucleotide variant	NM_004181.5(UCHL1):c.279C>T (p.Ile93=)	not provided [RCV002593320]	likely benign	4	41260751	41260751	Human		name
155977562	CV2085403	single nucleotide variant	NM_004181.5(UCHL1):c.213G>A (p.Lys71=)	not provided [RCV002863607]	likely benign	4	41260685	41260685	Human		name
156239495	CV2115842	single nucleotide variant	NM_004181.5(UCHL1):c.291C>T (p.His97=)	not provided [RCV002919244]	likely benign	4	41260763	41260763	Human		name
156337423	CV2190156	single nucleotide variant	NM_004181.5(UCHL1):c.282A>T (p.Gly94=)	not provided [RCV003064045]	likely benign	4	41260754	41260754	Human		name
156090472	CV2299967	single nucleotide variant	NM_004181.5(UCHL1):c.16A>T (p.Met6Leu)	Inborn genetic diseases [RCV002869795]	uncertain significance	4	41256992	41256992	Human	1	name
405194474	CV2872366	single nucleotide variant	NM_004181.5(UCHL1):c.210G>A (p.Leu70=)	not provided [RCV003550650]	likely benign	4	41260682	41260682	Human		name
405119978	CV3116211	single nucleotide variant	NM_004181.5(UCHL1):c.14C>T (p.Pro5Leu)	not provided [RCV003814701]	uncertain significance	4	41256990	41256990	Human		name
405051203	CV3150898	single nucleotide variant	NM_004181.5(UCHL1):c.294A>G (p.Ala98=)	UCHL1-related disorder [RCV003929368]\|not provided [RCV003849502]	likely benign	4	41260766	41260766	Human		name , trait , alternate_id
405235507	CV3155913	single nucleotide variant	NM_004181.5(UCHL1):c.255C>T (p.Thr85=)	not provided [RCV003853646]	likely benign	4	41260727	41260727	Human		name
405187268	CV3156462	single nucleotide variant	NM_004181.5(UCHL1):c.243C>T (p.Phe81=)	not provided [RCV003859340]	likely benign	4	41260715	41260715	Human		name
597635989	CV3622784	single nucleotide variant	NM_004181.5(UCHL1):c.11A>G (p.Lys4Arg)	Inborn genetic diseases [RCV004969791]	uncertain significance	4	41256987	41256987	Human	1	name
597962109	CV3753603	single nucleotide variant	NM_004181.5(UCHL1):c.10A>G (p.Lys4Glu)	not provided [RCV005081907]	uncertain significance	4	41256986	41256986	Human		name
597858013	CV3822345	insertion	NM_004181.5(UCHL1):c.326-15_326-14insT	not provided [RCV005174643]	likely benign	4	41261700	41261701	Human		name
598121842	CV3883469	duplication	NM_004181.5(UCHL1):c.30dup (p.Glu11fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV005235844]	pathogenic	4	41257002	41257003	Human	1	name
15102753	CV764462	single nucleotide variant	NM_004181.5(UCHL1):c.162C>T (p.Pro54=)	not provided [RCV000937053]	likely benign	4	41257725	41257725	Human		name
8573604	CV94224	single nucleotide variant	NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000074332]\|not provided [RCV002514325]	pathogenic	4	41256996	41256996	Human	1	name
40889057	CV975132	duplication	NM_004181.5(UCHL1):c.64dup (p.Val22fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003225965]\|not provided [RCV001267902]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	4	41257622	41257623	Human	1	name
150480235	CV1258395	deletion	NM_004181.5(UCHL1):c.526+221_526+222del	not provided [RCV001685814]	benign	4	41263511	41263512	Human		name
150489383	CV1278963	deletion	NM_004181.5(UCHL1):c.460-252_460-249del	not provided [RCV001716280]	benign	4	41262970	41262973	Human		name
151836620	CV1467910	single nucleotide variant	NM_004181.5(UCHL1):c.615C>T (p.Thr205=)	not provided [RCV001956244]	likely benign	4	41268016	41268016	Human		name
152028026	CV1521193	single nucleotide variant	NM_004181.5(UCHL1):c.444G>A (p.Gln148=)	not provided [RCV002085324]	likely benign	4	41261908	41261908	Human		name
152032127	CV1548927	single nucleotide variant	NM_004181.5(UCHL1):c.555T>C (p.His185=)	not provided [RCV002086515]	likely benign	4	41264131	41264131	Human		name
152102817	CV1667330	single nucleotide variant	NM_004181.5(UCHL1):c.648C>A (p.Ala216=)	not provided [RCV002214317]	likely benign	4	41268049	41268049	Human		name
156436946	CV1936849	single nucleotide variant	NM_004181.5(UCHL1):c.423A>G (p.Ala141=)	not provided [RCV003106472]	likely benign	4	41261887	41261887	Human		name
156379371	CV1964145	single nucleotide variant	NM_004181.5(UCHL1):c.435C>G (p.Ala145=)	not provided [RCV002583059]	likely benign	4	41261899	41261899	Human		name
155945034	CV2062136	single nucleotide variant	NM_004181.5(UCHL1):c.540T>G (p.Pro180=)	not provided [RCV002815932]	likely benign	4	41264116	41264116	Human		name
156244781	CV2101618	single nucleotide variant	NM_004181.5(UCHL1):c.90C>A (p.Asp30Glu)	not provided [RCV002895041]	uncertain significance	4	41257653	41257653	Human		name
243050699	CV2417535	single nucleotide variant	NM_004181.5(UCHL1):c.73C>T (p.Gln25Ter)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152407]	pathogenic	4	41257636	41257636	Human	1	name
8563034	CV27337	single nucleotide variant	NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV002243640]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV000013092]\|not provided [RCV001711069]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	41257616	41257616	Human	2	name
401928085	CV2822503	single nucleotide variant	NM_004181.5(UCHL1):c.315A>G (p.Lys105=)	not provided [RCV003439299]	likely benign	4	41260787	41260787	Human		name
405031425	CV2922458	single nucleotide variant	NM_004181.5(UCHL1):c.70G>C (p.Gly24Arg)	not provided [RCV003578389]	uncertain significance	4	41257633	41257633	Human		name
405224081	CV2982858	single nucleotide variant	NM_004181.5(UCHL1):c.564T>C (p.Ser188=)	not provided [RCV003681085]	likely benign	4	41264140	41264140	Human		name
11597765	CV298446	single nucleotide variant	NM_004181.5(UCHL1):c.513C>T (p.His171=)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000397408]\|UCHL1-related disorder [RCV004754408]\|not provided [RCV000880496]	likely benign\|uncertain significance	4	41263278	41263278	Human	1	name , trait , alternate_id
11597873	CV298451	single nucleotide variant	NM_004181.5(UCHL1):c.609A>G (p.Glu203=)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000399103]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002502344]\|not provided [RCV000903118]	benign\|likely benign	4	41268010	41268010	Human	1	name
11595029	CV298512	single nucleotide variant	NM_004181.5(UCHL1):c.558C>T (p.Gly186=)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000365722]\|not provided [RCV000965672]	benign\|likely benign	4	41264134	41264134	Human	1	name
405207531	CV2994503	single nucleotide variant	NM_004181.5(UCHL1):c.576C>G (p.Thr192=)	not provided [RCV003678885]	likely benign	4	41264152	41264152	Human		name
405206886	CV3064425	single nucleotide variant	NM_004181.5(UCHL1):c.519T>C (p.Tyr173=)	not provided [RCV003731424]	likely benign	4	41263284	41263284	Human		name
404978307	CV3127381	single nucleotide variant	NM_004181.5(UCHL1):c.55C>T (p.Arg19Trp)	not provided [RCV003825605]	uncertain significance	4	41257618	41257618	Human		name
405032301	CV3130024	single nucleotide variant	NM_004181.5(UCHL1):c.546G>T (p.Pro182=)	not provided [RCV003830623]	likely benign	4	41264122	41264122	Human		name
405853106	CV3393537	single nucleotide variant	NM_004181.5(UCHL1):c.501C>T (p.Asn167=)	not provided [RCV004546267]	likely benign	4	41263266	41263266	Human		name
597718396	CV3733418	duplication	NM_004181.5(UCHL1):c.106dup (p.Glu36fs)	not provided [RCV005052608]	uncertain significance	4	41257668	41257669	Human		name
15196436	CV698519	single nucleotide variant	NM_004181.5(UCHL1):c.435C>T (p.Ala145=)	not provided [RCV000956191]	likely benign	4	41261899	41261899	Human		name
15108821	CV748944	single nucleotide variant	NM_004181.5(UCHL1):c.648C>T (p.Ala216=)	not provided [RCV000916212]	likely benign	4	41268049	41268049	Human		name
8625791	CV80915	single nucleotide variant	NM_004181.4(UCHL1):c.480C>T (p.Phe160=)	Malignant melanoma [RCV000060992]	not provided	4	41263245	41263245	Human		name
151879164	CV1370227	single nucleotide variant	NM_004181.5(UCHL1):c.280G>A (p.Gly94Arg)	UCHL1-related disorder [RCV004731216]\|not provided [RCV001961416]	uncertain significance	4	41260752	41260752	Human		name , trait , alternate_id
151867207	CV1481126	single nucleotide variant	NM_004181.5(UCHL1):c.256A>G (p.Ile86Val)	Inborn genetic diseases [RCV002562059]\|not provided [RCV001959973]	uncertain significance	4	41260728	41260728	Human	1	name
153345806	CV1691443	single nucleotide variant	NM_004181.5(UCHL1):c.250C>T (p.Gln84Ter)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV004785554]	pathogenic\|likely pathogenic	4	41260722	41260722	Human	1	name
156004164	CV2014920	single nucleotide variant	NM_004181.5(UCHL1):c.113C>T (p.Ser38Phe)	not provided [RCV002690192]	uncertain significance	4	41257676	41257676	Human		name
156321598	CV2022111	single nucleotide variant	NM_004181.5(UCHL1):c.292G>A (p.Ala98Thr)	not provided [RCV002717127]	uncertain significance	4	41260764	41260764	Human		name
156347405	CV2051980	single nucleotide variant	NM_004181.5(UCHL1):c.275C>T (p.Thr92Ile)	not provided [RCV002811538]	uncertain significance	4	41260747	41260747	Human		name
156311859	CV2120065	single nucleotide variant	NM_004181.5(UCHL1):c.131C>T (p.Ala44Val)	not provided [RCV002962668]	uncertain significance	4	41257694	41257694	Human		name
156257082	CV2159276	single nucleotide variant	NM_004181.5(UCHL1):c.106G>A (p.Glu36Lys)	not provided [RCV003026537]	uncertain significance	4	41257669	41257669	Human		name
8563033	CV27336	single nucleotide variant	NM_004181.5(UCHL1):c.279C>G (p.Ile93Met)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV000013091]	pathogenic\|risk factor	4	41260751	41260751	Human	1	name
405083497	CV3137588	single nucleotide variant	NM_004181.5(UCHL1):c.113C>G (p.Ser38Cys)	not provided [RCV003834297]	uncertain significance	4	41257676	41257676	Human		name
407424643	CV3407357	single nucleotide variant	NM_004181.5(UCHL1):c.149T>C (p.Leu50Pro)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV004584173]	uncertain significance	4	41257712	41257712	Human	1	name
597635982	CV3622781	single nucleotide variant	NM_004181.5(UCHL1):c.199A>C (p.Ile67Leu)	Inborn genetic diseases [RCV004969789]	uncertain significance	4	41260671	41260671	Human	1	name
597635987	CV3622782	single nucleotide variant	NM_004181.5(UCHL1):c.115C>G (p.Leu39Val)	Inborn genetic diseases [RCV004969790]	uncertain significance	4	41257678	41257678	Human	1	name
597664188	CV3732502	deletion	NM_004181.5(UCHL1):c.414del (p.Ile139fs)	not provided [RCV005003971]	uncertain significance	4	41261877	41261877	Human		name
617153383	CV4018550	single nucleotide variant	NM_004181.5(UCHL1):c.252G>C (p.Gln84His)	not specified [RCV005418811]	uncertain significance	4	41260724	41260724	Human		name
28905235	CV890660	single nucleotide variant	NM_004181.5(UCHL1):c.223G>A (p.Val75Ile)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144812]\|not provided [RCV002557095]	uncertain significance	4	41260695	41260695	Human	1	name
151835933	CV1397966	single nucleotide variant	NM_004181.5(UCHL1):c.506A>G (p.Asp169Gly)	Inborn genetic diseases [RCV004042210]\|not provided [RCV001977138]	uncertain significance	4	41263271	41263271	Human	1	name
151876116	CV1483369	single nucleotide variant	NM_004181.5(UCHL1):c.425C>T (p.Ala142Val)	Inborn genetic diseases [RCV002555687]\|not provided [RCV001907084]	uncertain significance	4	41261889	41261889	Human	1	name
151794728	CV1506216	single nucleotide variant	NM_004181.5(UCHL1):c.532C>T (p.Arg178Ter)	not provided [RCV001917151]	pathogenic\|uncertain significance	4	41264108	41264108	Human		name
156401750	CV1908019	single nucleotide variant	NM_004181.5(UCHL1):c.383A>G (p.Asp128Gly)	Inborn genetic diseases [RCV002584952]\|not provided [RCV002584953]	uncertain significance	4	41261772	41261772	Human	1	name
156108864	CV1988599	single nucleotide variant	NM_004181.5(UCHL1):c.460G>A (p.Val154Ile)	not provided [RCV002622494]	uncertain significance	4	41263225	41263225	Human		name
156250543	CV1993343	single nucleotide variant	NM_004181.5(UCHL1):c.655C>T (p.Leu219Phe)	not provided [RCV002627435]	uncertain significance	4	41268056	41268056	Human		name
156013347	CV2008986	single nucleotide variant	NM_004181.5(UCHL1):c.374C>T (p.Ser125Phe)	not provided [RCV002690634]	uncertain significance	4	41261763	41261763	Human		name
155904035	CV2127157	single nucleotide variant	NM_004181.5(UCHL1):c.407A>G (p.Asn136Ser)	Inborn genetic diseases [RCV002949733]\|not provided [RCV002967600]	uncertain significance	4	41261796	41261796	Human	1	name
155913395	CV2153527	single nucleotide variant	NM_004181.5(UCHL1):c.552C>G (p.Asn184Lys)	not provided [RCV003012418]	uncertain significance	4	41264128	41264128	Human		name
156368272	CV2266972	single nucleotide variant	NM_004181.5(UCHL1):c.366G>T (p.Glu122Asp)	Inborn genetic diseases [RCV002813887]	uncertain significance	4	41261755	41261755	Human	1	name
156367138	CV2269828	single nucleotide variant	NM_004181.5(UCHL1):c.616G>A (p.Glu206Lys)	Inborn genetic diseases [RCV002813714]\|not provided [RCV005059296]	uncertain significance	4	41268017	41268017	Human	1	name
243061946	CV2407134	single nucleotide variant	NM_004181.5(UCHL1):c.569A>G (p.Glu190Gly)	not provided [RCV003139217]	uncertain significance	4	41264145	41264145	Human		name
243050702	CV2417536	duplication	NM_004181.5(UCHL1):c.95_98dup (p.Leu34fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152408]	pathogenic	4	41257657	41257658	Human	1	name
11525915	CV246966	single nucleotide variant	NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144813]\|UCHL1-related disorder [RCV004754367]\|not provided [RCV002057266]\|not specified [RCV000239068]	likely benign\|uncertain significance	4	41261759	41261759	Human	1	name , trait , alternate_id
401773213	CV2698134	single nucleotide variant	NM_004181.5(UCHL1):c.608A>G (p.Glu203Gly)	Inborn genetic diseases [RCV003285320]	uncertain significance	4	41268009	41268009	Human	1	name
401858301	CV2750591	single nucleotide variant	NM_004181.5(UCHL1):c.566C>T (p.Ser189Leu)	not provided [RCV003334264]	uncertain significance	4	41264142	41264142	Human		name
401913655	CV2801653	single nucleotide variant	NM_004181.5(UCHL1):c.644C>T (p.Ser215Phe)	UCHL1-related disorder [RCV003400097]	uncertain significance	4	41268045	41268045	Human		name , trait , alternate_id
401924650	CV2805035	single nucleotide variant	NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)	not specified [RCV003404854]	uncertain significance	4	41261730	41261730	Human		name
401946769	CV2831786	single nucleotide variant	NM_004181.5(UCHL1):c.603C>G (p.Cys201Trp)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003445435]	uncertain significance	4	41268004	41268004	Human	1	name
402503774	CV2879887	single nucleotide variant	NM_004181.5(UCHL1):c.495T>A (p.Phe165Leu)	not provided [RCV003546173]	uncertain significance	4	41263260	41263260	Human		name
405128284	CV2954882	single nucleotide variant	NM_004181.5(UCHL1):c.653C>A (p.Ala218Asp)	not provided [RCV003668142]	uncertain significance	4	41268054	41268054	Human		name
405244149	CV2971644	single nucleotide variant	NM_004181.5(UCHL1):c.418C>G (p.Gln140Glu)	not provided [RCV003684626]	uncertain significance	4	41261882	41261882	Human		name
405219792	CV3035153	single nucleotide variant	NM_004181.5(UCHL1):c.347A>T (p.Gln116Leu)	not provided [RCV003709798]	uncertain significance	4	41261736	41261736	Human		name
405247233	CV3158726	single nucleotide variant	NM_004181.5(UCHL1):c.436G>A (p.Val146Met)	not provided [RCV003869068]	uncertain significance	4	41261900	41261900	Human		name
407462381	CV3491236	single nucleotide variant	NM_004181.5(UCHL1):c.340C>G (p.Leu114Val)	Inborn genetic diseases [RCV004687939]	uncertain significance	4	41261729	41261729	Human	1	name
407523460	CV3491237	single nucleotide variant	NM_004181.5(UCHL1):c.605G>T (p.Arg202Ile)	Inborn genetic diseases [RCV004677957]	uncertain significance	4	41268006	41268006	Human	1	name
596929117	CV3530962	single nucleotide variant	NM_004181.5(UCHL1):c.607G>T (p.Glu203Ter)	not provided [RCV004779536]	uncertain significance	4	41268008	41268008	Human		name
12791709	CV362490	single nucleotide variant	NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000417182]\|Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146776]	pathogenic\|uncertain significance	4	41264109	41264109	Human	2	name
12791976	CV362491	single nucleotide variant	NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000417145]	pathogenic	4	41268048	41268048	Human	1	name
597907592	CV3781530	single nucleotide variant	NM_004181.5(UCHL1):c.418C>T (p.Gln140Ter)	not provided [RCV005128218]	pathogenic	4	41261882	41261882	Human		name
597931786	CV3827153	single nucleotide variant	NM_004181.5(UCHL1):c.601T>C (p.Cys201Arg)	not provided [RCV005157166]	uncertain significance	4	41268002	41268002	Human		name
597971744	CV3833171	single nucleotide variant	NM_004181.5(UCHL1):c.346C>T (p.Gln116Ter)	not provided [RCV005167068]	pathogenic	4	41261735	41261735	Human		name
597907817	CV3843060	single nucleotide variant	NM_004181.5(UCHL1):c.493T>C (p.Phe165Leu)	not provided [RCV005182368]	likely benign	4	41263258	41263258	Human		name
598222956	CV3892230	single nucleotide variant	NM_004181.5(UCHL1):c.583A>T (p.Lys195Ter)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV005253569]	likely pathogenic	4	41264159	41264159	Human	1	name
28873470	CV890661	single nucleotide variant	NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146775]\|not provided [RCV002557146]	likely benign\|uncertain significance	4	41261921	41261921	Human	1	name
401828938	CV2743350	duplication	NM_004181.5(UCHL1):c.260_261dup (p.Asn88fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003326192]	pathogenic	4	41260730	41260731	Human	1	name
405692219	CV3227775	microsatellite	NM_004181.5(UCHL1):c.366_367del (p.Lys123fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003992109]	pathogenic	4	41261752	41261753	Human		name
13518486	CV486357	microsatellite	NM_004181.5(UCHL1):c.385_388dup (p.Ala130fs)	not provided [RCV000584842]	likely pathogenic	4	41261773	41261774	Human		name
40890179	CV975133	deletion	NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152622]\|not provided [RCV001268796]	pathogenic\|likely pathogenic	4	41261727	41261742	Human	1	name
408386143	CV3496739	deletion	NM_004181.5(UCHL1):c.629_631del (p.Gly210del)	Parkinson disease 5, autosomal dominant, susceptibility to [RCV004767692]	likely pathogenic	4	41268028	41268030	Human	1	name
156029433	CV2131577	microsatellite	NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152652]\|not provided [RCV002976538]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	41257706	41257707	Human		name

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