Usp5 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

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

472 records found for search term Usp5

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401905874	CV2810119	single nucleotide variant	NM_001098536.2(USP5):c.60G>A (p.Lys20=)	not provided [RCV003396164]	likely benign	12	6852239	6852239	Human		name
15135090	CV713724	single nucleotide variant	NM_001098536.2(USP5):c.54C>T (p.Val18=)	not provided [RCV000965230]	benign	12	6852233	6852233	Human		name
156238705	CV2268960	single nucleotide variant	NM_001098536.2(USP5):c.11T>C (p.Leu4Pro)	not specified [RCV004128362]	uncertain significance	12	6852190	6852190	Human		name
15182535	CV738846	single nucleotide variant	NM_001098536.2(USP5):c.261C>T (p.Gly87=)	not provided [RCV000907843]	benign	12	6855778	6855778	Human		name
156088786	CV2290729	single nucleotide variant	NM_001098536.2(USP5):c.277C>G (p.Arg93Gly)	not specified [RCV004149248]	uncertain significance	12	6855794	6855794	Human		name
156303335	CV2308285	single nucleotide variant	NM_001098536.2(USP5):c.192G>T (p.Lys64Asn)	not specified [RCV004164777]	uncertain significance	12	6855481	6855481	Human		name
156265000	CV2389005	single nucleotide variant	NM_001098536.2(USP5):c.236C>T (p.Pro79Leu)	not specified [RCV004242000]	likely benign	12	6855525	6855525	Human		name
401770669	CV2685832	single nucleotide variant	NM_001098536.2(USP5):c.278G>A (p.Arg93Gln)	not specified [RCV004294817]	uncertain significance	12	6855795	6855795	Human		name
407464653	CV3487697	single nucleotide variant	NM_001098536.2(USP5):c.223C>T (p.Arg75Trp)	not specified [RCV004688561]	uncertain significance	12	6855512	6855512	Human		name
597696873	CV3623210	single nucleotide variant	NM_001098536.2(USP5):c.203G>A (p.Arg68Gln)	not specified [RCV004885204]	uncertain significance	12	6855492	6855492	Human		name
597696891	CV3623212	single nucleotide variant	NM_001098536.2(USP5):c.220C>T (p.Arg74Trp)	not specified [RCV004885206]	uncertain significance	12	6855509	6855509	Human		name
598238929	CV3932946	single nucleotide variant	NM_001098536.2(USP5):c.214C>A (p.His72Asn)	not specified [RCV005296499]	uncertain significance	12	6855503	6855503	Human		name
15117645	CV713725	single nucleotide variant	NM_001098536.2(USP5):c.1138C>T (p.Leu380=)	not provided [RCV000962239]	benign	12	6860158	6860158	Human		name
15117652	CV713726	single nucleotide variant	NM_001098536.2(USP5):c.1827C>T (p.Pro609=)	not provided [RCV000962240]	benign	12	6863250	6863250	Human		name
15163476	CV738847	single nucleotide variant	NM_001098536.2(USP5):c.1465C>T (p.Leu489=)	not provided [RCV000903781]	benign	12	6861073	6861073	Human		name
8627367	CV82511	single nucleotide variant	NM_001098536.1(USP5):c.1797C>T (p.Ile599=)	Malignant melanoma [RCV000062590]	not provided	12	6863220	6863220	Human		name
401760759	CV2695150	single nucleotide variant	NM_001098536.2(USP5):c.958C>A (p.Leu320Met)	not specified [RCV004303303]	uncertain significance	12	6858517	6858517	Human		name
405801031	CV3338384	single nucleotide variant	NM_001098536.2(USP5):c.316G>A (p.Gly106Arg)	not specified [RCV004477583]	uncertain significance	12	6856028	6856028	Human		name
405801033	CV3338385	single nucleotide variant	NM_001098536.2(USP5):c.520C>T (p.Arg174Trp)	not specified [RCV004477584]	uncertain significance	12	6856386	6856386	Human		name
407529067	CV3487698	single nucleotide variant	NM_001098536.2(USP5):c.351C>A (p.Asp117Glu)	not specified [RCV004680659]	uncertain significance	12	6856063	6856063	Human		name
597799093	CV3623205	single nucleotide variant	NM_001098536.2(USP5):c.422A>C (p.Asp141Ala)	not specified [RCV004879529]	uncertain significance	12	6856134	6856134	Human		name
597799106	CV3623215	single nucleotide variant	NM_001098536.2(USP5):c.554A>G (p.Gln185Arg)	not specified [RCV004879535]	uncertain significance	12	6856420	6856420	Human		name
156056423	CV2243301	single nucleotide variant	NM_001098536.2(USP5):c.2540T>C (p.Leu847Pro)	not specified [RCV004110179]	uncertain significance	12	6866040	6866040	Human		name
155949733	CV2267710	single nucleotide variant	NM_001098536.2(USP5):c.2332C>T (p.Arg778Cys)	not specified [RCV004134247]	uncertain significance	12	6864809	6864809	Human		name
156171981	CV2286797	single nucleotide variant	NM_001098536.2(USP5):c.2021G>A (p.Arg674His)	not specified [RCV004142601]	uncertain significance	12	6863896	6863896	Human		name
156284617	CV2291922	single nucleotide variant	NM_001098536.2(USP5):c.1843C>G (p.Pro615Ala)	not specified [RCV004158438]	uncertain significance	12	6863266	6863266	Human		name
156303322	CV2308284	single nucleotide variant	NM_001098536.2(USP5):c.1740A>C (p.Leu580Phe)	not specified [RCV004164776]	uncertain significance	12	6862536	6862536	Human		name
156348348	CV2312740	single nucleotide variant	NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)	not specified [RCV004169461]	uncertain significance	12	6860200	6860200	Human		name
156301830	CV2319428	single nucleotide variant	NM_001098536.2(USP5):c.1607A>G (p.Tyr536Cys)	not specified [RCV004185014]	uncertain significance	12	6861551	6861551	Human		name
156195469	CV2347499	single nucleotide variant	NM_001098536.2(USP5):c.1529G>A (p.Arg510Gln)	not specified [RCV004200447]	uncertain significance	12	6861473	6861473	Human		name
156043945	CV2381587	single nucleotide variant	NM_001098536.2(USP5):c.1525A>C (p.Lys509Gln)	not specified [RCV004232064]	uncertain significance	12	6861469	6861469	Human		name
156345220	CV2382123	single nucleotide variant	NM_001098536.2(USP5):c.1181C>T (p.Pro394Leu)	not specified [RCV004228085]	uncertain significance	12	6860201	6860201	Human		name
401739997	CV2683228	single nucleotide variant	NM_001098536.2(USP5):c.1825C>T (p.Pro609Ser)	not specified [RCV004286223]	uncertain significance	12	6863248	6863248	Human		name
401731583	CV2693879	single nucleotide variant	NM_001098536.2(USP5):c.1748T>C (p.Val583Ala)	not specified [RCV004300180]	uncertain significance	12	6862544	6862544	Human		name
401896239	CV2773866	single nucleotide variant	NM_001098536.2(USP5):c.2161G>A (p.Asp721Asn)	not specified [RCV004358307]	uncertain significance	12	6864112	6864112	Human		name
401884919	CV2786619	single nucleotide variant	NM_001098536.2(USP5):c.2020C>T (p.Arg674Cys)	not specified [RCV004363758]	uncertain significance	12	6863895	6863895	Human		name
405801019	CV3338377	single nucleotide variant	NM_001098536.2(USP5):c.1292A>G (p.Asn431Ser)	not specified [RCV004477576]	uncertain significance	12	6860439	6860439	Human		name
405801021	CV3338378	single nucleotide variant	NM_001098536.2(USP5):c.1483G>A (p.Ala495Thr)	not specified [RCV004477577]	uncertain significance	12	6861091	6861091	Human		name
405801022	CV3338379	single nucleotide variant	NM_001098536.2(USP5):c.1646C>T (p.Ala549Val)	not specified [RCV004477578]	uncertain significance	12	6861590	6861590	Human		name
405801024	CV3338380	single nucleotide variant	NM_001098536.2(USP5):c.1952C>T (p.Thr651Ile)	not specified [RCV004477579]	uncertain significance	12	6863375	6863375	Human		name
405801026	CV3338381	single nucleotide variant	NM_001098536.2(USP5):c.2009T>C (p.Met670Thr)	not specified [RCV004477580]	uncertain significance	12	6863884	6863884	Human		name
405801028	CV3338382	single nucleotide variant	NM_001098536.2(USP5):c.2350A>G (p.Ile784Val)	not specified [RCV004477581]	uncertain significance	12	6864827	6864827	Human		name
405801030	CV3338383	single nucleotide variant	NM_001098536.2(USP5):c.2445G>A (p.Met815Ile)	not specified [RCV004477582]	uncertain significance	12	6865210	6865210	Human		name
407529065	CV3487699	single nucleotide variant	NM_001098536.2(USP5):c.1690T>A (p.Ser564Thr)	not specified [RCV004680660]	uncertain significance	12	6862486	6862486	Human		name
407529063	CV3487700	single nucleotide variant	NM_001098536.2(USP5):c.1548G>T (p.Lys516Asn)	not specified [RCV004680661]	uncertain significance	12	6861492	6861492	Human		name
407529060	CV3487701	single nucleotide variant	NM_001098536.2(USP5):c.2152G>A (p.Ala718Thr)	not specified [RCV004680662]	uncertain significance	12	6864103	6864103	Human		name
597799096	CV3623206	single nucleotide variant	NM_001098536.2(USP5):c.2134G>T (p.Gly712Trp)	not specified [RCV004879530]	uncertain significance	12	6864085	6864085	Human		name
597799098	CV3623207	single nucleotide variant	NM_001098536.2(USP5):c.2260C>T (p.Arg754Trp)	not specified [RCV004879531]	uncertain significance	12	6864737	6864737	Human		name
597799100	CV3623208	single nucleotide variant	NM_001098536.2(USP5):c.1166A>G (p.Tyr389Cys)	not specified [RCV004879532]	uncertain significance	12	6860186	6860186	Human		name
597799101	CV3623209	single nucleotide variant	NM_001098536.2(USP5):c.2534A>G (p.Lys845Arg)	not specified [RCV004879533]	uncertain significance	12	6866034	6866034	Human		name
597696882	CV3623211	single nucleotide variant	NM_001098536.2(USP5):c.1558C>T (p.Pro520Ser)	not specified [RCV004885205]	uncertain significance	12	6861502	6861502	Human		name
597799103	CV3623214	single nucleotide variant	NM_001098536.2(USP5):c.2039C>T (p.Thr680Met)	not specified [RCV004879534]	uncertain significance	12	6863914	6863914	Human		name
598238906	CV3932942	single nucleotide variant	NM_001098536.2(USP5):c.2362G>C (p.Val788Leu)	not specified [RCV005296495]	uncertain significance	12	6864839	6864839	Human		name
598238912	CV3932943	single nucleotide variant	NM_001098536.2(USP5):c.1828G>A (p.Gly610Arg)	not specified [RCV005296496]	uncertain significance	12	6863251	6863251	Human		name
598238918	CV3932944	single nucleotide variant	NM_001098536.2(USP5):c.1814C>T (p.Thr605Ile)	not specified [RCV005296497]	uncertain significance	12	6863237	6863237	Human		name
598238924	CV3932945	single nucleotide variant	NM_001098536.2(USP5):c.2167C>A (p.Pro723Thr)	not specified [RCV005296498]	uncertain significance	12	6864118	6864118	Human		name
598204551	CV3932947	single nucleotide variant	NM_001098536.2(USP5):c.2338G>T (p.Ala780Ser)	not specified [RCV005290710]	uncertain significance	12	6864815	6864815	Human		name
155268102	CV1701581	single nucleotide variant	NM_001371395.1(USP53):c.973-1G>A	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283808]	likely pathogenic	4	119267319	119267319	Human	1	name
156345718	CV2051863	single nucleotide variant	NM_001371395.1(USP53):c.486+8G>T	not provided [RCV002811453]	benign	4	119256367	119256367	Human		name
156214557	CV2076569	single nucleotide variant	NM_001371395.1(USP53):c.487-8C>A	not provided [RCV002875620]	likely benign	4	119256433	119256433	Human		name
401855727	CV2753169	deletion	NM_001371395.1(USP53):c.822+1del	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003338225]	pathogenic\|likely pathogenic	4	119260651	119260651	Human	1	name
401940345	CV2839196	single nucleotide variant	NM_001371395.1(USP53):c.237+1G>A	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448754]	likely pathogenic	4	119245430	119245430	Human	1	name
401940346	CV2839197	single nucleotide variant	NM_001371395.1(USP53):c.570-1G>A	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448755]	likely pathogenic\|uncertain significance	4	119259819	119259819	Human	1	name
402483182	CV2921553	deletion	NM_001371395.1(USP53):c.823-2del	not provided [RCV003572134]	likely pathogenic	4	119261713	119261713	Human		name
596926743	CV3530885	single nucleotide variant	NM_001371395.1(USP53):c.823-5A>G	not provided [RCV004778470]	uncertain significance	4	119261710	119261710	Human		name
597946956	CV3771579	single nucleotide variant	NM_001371395.1(USP53):c.973-5A>T	not provided [RCV005120104]	benign	4	119267315	119267315	Human		name
597894251	CV3857167	single nucleotide variant	NM_001371395.1(USP53):c.973-4A>T	not provided [RCV005201031]	likely benign	4	119267316	119267316	Human		name
15040189	CV682417	single nucleotide variant	NM_001371395.1(USP53):c.569+2T>C	Cholestasis [RCV000856555]	pathogenic	4	119256525	119256525	Human	2	name
405149516	CV3024260	single nucleotide variant	NM_001371395.1(USP53):c.2348+7A>G	not provided [RCV003703130]	likely benign	4	119291268	119291268	Human		name
404980027	CV3127908	single nucleotide variant	NM_001371395.1(USP53):c.144+12A>C	not provided [RCV003825940]	likely benign	4	119239915	119239915	Human		name
156245288	CV1956927	single nucleotide variant	NM_001371395.1(USP53):c.2348+19C>T	not provided [RCV002576364]	benign	4	119291280	119291280	Human		name
156237805	CV1992418	single nucleotide variant	NM_001371395.1(USP53):c.1135+16A>G	not provided [RCV002627029]	likely benign	4	119267498	119267498	Human		name
156321965	CV2182799	deletion	NM_001371395.1(USP53):c.2348+17del	not provided [RCV003046670]	benign	4	119291271	119291271	Human		name
405174266	CV3122893	single nucleotide variant	NM_001371395.1(USP53):c.1435+19C>G	not provided [RCV003819291]	likely benign	4	119269856	119269856	Human		name
402495792	CV3179170	single nucleotide variant	NM_001371395.1(USP53):c.1136-14C>T	not provided [RCV003877437]	benign	4	119268254	119268254	Human		name
405270410	CV3211368	single nucleotide variant	NM_001391956.1(USP54):c.2060+93G>C	USP54-related disorder [RCV003949268]	likely benign	10	73529587	73529587	Human		name , trait , alternate_id
405281968	CV3224643	deletion	NM_001371395.1(USP53):c.145-10_168del	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003988978]\|USP53-related disorder [RCV004756558]	likely pathogenic	4	119245326	119245359	Human	1	name , trait , alternate_id
151791316	CV1422708	deletion	NM_001371395.1(USP53):c.372+3_372+6del	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448431]\|not provided [RCV001916848]	uncertain significance	4	119248883	119248886	Human	1	name
155267990	CV1701503	deletion	NM_001371395.1(USP53):c.972+3_972+6del	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283729]	likely pathogenic	4	119261865	119261868	Human	1	name
597862572	CV3770615	deletion	NM_001371395.1(USP53):c.372+9_372+18del	not provided [RCV005106264]	likely benign	4	119248890	119248899	Human		name
402497182	CV3179301	duplication	NM_001371395.1(USP53):c.372+14_372+16dup	not provided [RCV003877568]	likely benign	4	119248895	119248896	Human		name
156356093	CV1876470	single nucleotide variant	NM_001371395.1(USP53):c.3041T>C (p.Ile1014Thr)	Inborn genetic diseases [RCV003065250]\|USP53-related disorder [RCV003926666]\|not provided [RCV003065249]	likely benign\|uncertain significance	4	119293030	119293030	Human	2	name , trait , alternate_id
156393392	CV1933923	single nucleotide variant	NM_001371395.1(USP53):c.1940A>G (p.Lys647Arg)	Inborn genetic diseases [RCV002654611]\|USP53-related disorder [RCV003926750]\|not provided [RCV002654610]	likely benign\|uncertain significance	4	119271800	119271800	Human	2	name , trait , alternate_id
401921843	CV2800006	duplication	NM_001371395.1(USP53):c.1636dup (p.Ile546fs)	USP53-related disorder [RCV003403089]	likely pathogenic	4	119271492	119271493	Human		name , trait , alternate_id
405281627	CV3191800	single nucleotide variant	NM_001391956.1(USP54):c.4351C>T (p.Arg1451Cys)	USP54-related disorder [RCV003907335]	likely benign	10	73500799	73500799	Human		name , trait , alternate_id
405256148	CV3208722	single nucleotide variant	NM_001391956.1(USP54):c.4183C>T (p.Arg1395Ter)	USP54-related disorder [RCV003939774]	likely benign	10	73504978	73504978	Human		name , trait , alternate_id
405284024	CV3213537	single nucleotide variant	NM_001391956.1(USP54):c.331C>G (p.Gln111Glu)	USP54-related disorder [RCV003922113]\|not provided [RCV005426263]	likely benign	10	73545582	73545582	Human		name , trait , alternate_id
401919066	CV2829091	single nucleotide variant	NM_201286.4(USP51):c.180A>G (p.Pro60=)	not provided [RCV003430542]	likely benign	X	55488760	55488760	Human		name
401919067	CV2829092	single nucleotide variant	NM_201286.4(USP51):c.141G>C (p.Ala47=)	not provided [RCV003430543]	likely benign	X	55488799	55488799	Human		name
405801130	CV3338395	single nucleotide variant	NM_201286.4(USP51):c.18A>C (p.Glu6Asp)	not specified [RCV004477594]	uncertain significance	X	55488922	55488922	Human		name
14350252	CV590942	single nucleotide variant	NM_201286.4(USP51):c.13C>T (p.Arg5Ter)	Short stature [RCV000736242]	pathogenic	X	55488927	55488927	Human	2	name
15127948	CV714480	single nucleotide variant	NM_203494.5(USP50):c.186C>G (p.Leu62=)	not provided [RCV000963997]	benign	15	50544649	50544649	Human		name
329402697	CV2451245	single nucleotide variant	NM_201286.4(USP51):c.87G>C (p.Glu29Asp)	not specified [RCV004270157]	uncertain significance	X	55488853	55488853	Human		name
401744283	CV2688136	single nucleotide variant	NM_201286.4(USP51):c.40G>A (p.Gly14Arg)	not specified [RCV004305185]	uncertain significance	X	55488900	55488900	Human		name
405801119	CV3338401	single nucleotide variant	NM_201286.4(USP51):c.32C>G (p.Ser11Cys)	not specified [RCV004477600]	uncertain significance	X	55488908	55488908	Human		name
405801117	CV3338402	single nucleotide variant	NM_201286.4(USP51):c.34G>A (p.Gly12Ser)	not specified [RCV004477601]	uncertain significance	X	55488906	55488906	Human		name
15102072	CV703243	single nucleotide variant	NM_203494.5(USP50):c.366A>G (p.Ala122=)	not provided [RCV000959220]	benign	15	50543676	50543676	Human		name
15194315	CV706282	single nucleotide variant	NM_201286.4(USP51):c.492A>G (p.Arg164=)	not provided [RCV000955612]	benign	X	55488448	55488448	Human		name
156213918	CV2127886	duplication	NM_001371395.1(USP53):c.21dup (p.Arg8fs)	not provided [RCV002957861]	pathogenic	4	119239779	119239780	Human		name
156173064	CV2194314	single nucleotide variant	NM_201286.4(USP51):c.152G>A (p.Arg51His)	not specified [RCV004079429]	uncertain significance	X	55488788	55488788	Human		name
156226570	CV2226478	single nucleotide variant	NM_201286.4(USP51):c.122C>A (p.Ala41Glu)	not specified [RCV004099680]	uncertain significance	X	55488818	55488818	Human		name
155976527	CV2266309	single nucleotide variant	NM_201286.4(USP51):c.286T>G (p.Ser96Ala)	not specified [RCV004129134]	uncertain significance	X	55488654	55488654	Human		name
156289834	CV2299401	single nucleotide variant	NM_201286.4(USP51):c.210G>T (p.Glu70Asp)	not specified [RCV004154487]	uncertain significance	X	55488730	55488730	Human		name
329382624	CV2424503	single nucleotide variant	NM_203494.5(USP50):c.274T>G (p.Phe92Val)	not specified [RCV004252390]	uncertain significance	15	50543768	50543768	Human		name
329396192	CV2459396	single nucleotide variant	NM_201286.4(USP51):c.150A>T (p.Arg50Ser)	not specified [RCV004275092]	uncertain significance	X	55488790	55488790	Human		name
401771881	CV2711955	single nucleotide variant	NM_203494.5(USP50):c.236C>G (p.Thr79Ser)	not specified [RCV004309569]	uncertain significance	15	50544599	50544599	Human		name
401919062	CV2829090	single nucleotide variant	NM_201286.4(USP51):c.1653C>T (p.Asp551=)	not provided [RCV003430541]	likely benign	X	55487287	55487287	Human		name
405801135	CV3338392	single nucleotide variant	NM_201286.4(USP51):c.122C>T (p.Ala41Val)	not specified [RCV004477591]	uncertain significance	X	55488818	55488818	Human		name
405801133	CV3338393	single nucleotide variant	NM_201286.4(USP51):c.130G>C (p.Ala44Pro)	not specified [RCV004477592]	uncertain significance	X	55488810	55488810	Human		name
405801126	CV3338397	single nucleotide variant	NM_201286.4(USP51):c.236G>A (p.Gly79Asp)	not specified [RCV004477596]	uncertain significance	X	55488704	55488704	Human		name
405801124	CV3338398	single nucleotide variant	NM_201286.4(USP51):c.281G>C (p.Ser94Thr)	not specified [RCV004477597]	uncertain significance	X	55488659	55488659	Human		name
405801122	CV3338399	single nucleotide variant	NM_201286.4(USP51):c.287C>T (p.Ser96Leu)	not specified [RCV004477598]	uncertain significance	X	55488653	55488653	Human		name
405801052	CV3338419	single nucleotide variant	NM_001371395.1(USP53):c.4G>A (p.Ala2Thr)	Inborn genetic diseases [RCV004477618]	uncertain significance	4	119239763	119239763	Human	1	name
597696901	CV3623216	single nucleotide variant	NM_203494.5(USP50):c.238G>A (p.Ala80Thr)	not specified [RCV004885207]	uncertain significance	15	50544597	50544597	Human		name
597799111	CV3623221	single nucleotide variant	NM_203494.5(USP50):c.269C>G (p.Thr90Ser)	not specified [RCV004879538]	uncertain significance	15	50543773	50543773	Human		name
597696971	CV3623229	single nucleotide variant	NM_201286.4(USP51):c.190C>T (p.Arg64Cys)	not specified [RCV004885215]	uncertain significance	X	55488750	55488750	Human		name
597832651	CV3734654	single nucleotide variant	NM_001371395.1(USP53):c.9G>A (p.Trp3Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005054035]	likely pathogenic	4	119239768	119239768	Human	1	name
598238971	CV3932957	single nucleotide variant	NM_201286.4(USP51):c.289C>T (p.Pro97Ser)	not specified [RCV005296507]	uncertain significance	X	55488651	55488651	Human		name
15102067	CV703242	duplication	NM_203494.5(USP50):c.915dup (p.Tyr306fs)	not provided [RCV000959219]	benign	15	50529817	50529818	Human		name
8633720	CV88936	single nucleotide variant	NM_152586.3(USP54):c.2406A>T (p.Ser802=)	Malignant melanoma [RCV000069032]	not provided	10	73520984	73520984	Human		name
156296711	CV2236646	single nucleotide variant	NM_201286.4(USP51):c.416C>A (p.Pro139Gln)	not specified [RCV004110617]	uncertain significance	X	55488524	55488524	Human		name
156197018	CV2259228	single nucleotide variant	NM_203494.5(USP50):c.781A>G (p.Ile261Val)	not specified [RCV004122254]	uncertain significance	15	50538731	50538731	Human		name
155956362	CV2304023	single nucleotide variant	NM_203494.5(USP50):c.844G>A (p.Asp282Asn)	not specified [RCV004170075]	uncertain significance	15	50529889	50529889	Human		name
156177558	CV2331251	single nucleotide variant	NM_203494.5(USP50):c.333A>G (p.Ile111Met)	not specified [RCV004181854]	uncertain significance	15	50543709	50543709	Human		name
155908917	CV2354776	single nucleotide variant	NM_203494.5(USP50):c.556A>C (p.Asn186His)	not specified [RCV004204764]	uncertain significance	15	50541153	50541153	Human		name
156286560	CV2360931	single nucleotide variant	NM_203494.5(USP50):c.493T>G (p.Cys165Gly)	not specified [RCV004215745]	uncertain significance	15	50541216	50541216	Human		name
156037051	CV2374034	single nucleotide variant	NM_201286.4(USP51):c.368C>T (p.Pro123Leu)	not specified [RCV004227159]	uncertain significance	X	55488572	55488572	Human		name
156052757	CV2386679	single nucleotide variant	NM_203494.5(USP50):c.842C>T (p.Thr281Met)	not specified [RCV004231016]	uncertain significance	15	50529891	50529891	Human		name
401743166	CV2684032	single nucleotide variant	NM_201286.4(USP51):c.610G>A (p.Gly204Ser)	not specified [RCV004295636]	uncertain significance	X	55488330	55488330	Human		name
401746524	CV2695588	single nucleotide variant	NM_203494.5(USP50):c.365C>T (p.Ala122Val)	not specified [RCV004299411]	uncertain significance	15	50543677	50543677	Human		name
401782861	CV2707546	single nucleotide variant	NM_201286.4(USP51):c.304C>T (p.Arg102Cys)	not specified [RCV004312914]	uncertain significance	X	55488636	55488636	Human		name
401725235	CV2726049	single nucleotide variant	NM_203494.5(USP50):c.370A>C (p.Thr124Pro)	not specified [RCV004324406]	uncertain significance	15	50543672	50543672	Human		name
401878911	CV2754877	single nucleotide variant	NM_203494.5(USP50):c.602A>T (p.Asn201Ile)	not specified [RCV004341351]	uncertain significance	15	50541107	50541107	Human		name
401862894	CV2755721	single nucleotide variant	NM_203494.5(USP50):c.824C>T (p.Thr275Ile)	not specified [RCV004342102]	uncertain significance	15	50529909	50529909	Human		name
401866061	CV2762509	single nucleotide variant	NM_203494.5(USP50):c.568G>A (p.Val190Ile)	not specified [RCV004338045]	uncertain significance	15	50541141	50541141	Human		name
401898539	CV2784539	single nucleotide variant	NM_203494.5(USP50):c.691G>T (p.Ala231Ser)	not specified [RCV004358698]	uncertain significance	15	50538821	50538821	Human		name
405801145	CV3338387	single nucleotide variant	NM_203494.5(USP50):c.365C>A (p.Ala122Glu)	not specified [RCV004477586]	uncertain significance	15	50543677	50543677	Human		name
405801143	CV3338388	single nucleotide variant	NM_203494.5(USP50):c.457C>T (p.Arg153Trp)	not specified [RCV004477587]	uncertain significance	15	50541252	50541252	Human		name
405801141	CV3338389	single nucleotide variant	NM_203494.5(USP50):c.458G>A (p.Arg153Gln)	not specified [RCV004477588]	uncertain significance	15	50541251	50541251	Human		name
405801139	CV3338390	single nucleotide variant	NM_203494.5(USP50):c.604G>A (p.Glu202Lys)	not specified [RCV004477589]	uncertain significance	15	50541105	50541105	Human		name
405801137	CV3338391	single nucleotide variant	NM_203494.5(USP50):c.691G>A (p.Ala231Thr)	not specified [RCV004477590]	likely benign	15	50538821	50538821	Human		name
405801120	CV3338400	single nucleotide variant	NM_201286.4(USP51):c.319C>G (p.Arg107Gly)	not specified [RCV004477599]	uncertain significance	X	55488621	55488621	Human		name
405801115	CV3338403	single nucleotide variant	NM_201286.4(USP51):c.400C>T (p.Pro134Ser)	not specified [RCV004477602]	uncertain significance	X	55488540	55488540	Human		name
405801113	CV3338404	single nucleotide variant	NM_201286.4(USP51):c.457A>G (p.Arg153Gly)	not specified [RCV004477603]	uncertain significance	X	55488483	55488483	Human		name
407529058	CV3487702	single nucleotide variant	NM_203494.5(USP50):c.371C>T (p.Thr124Met)	not specified [RCV004680663]	likely benign	15	50543671	50543671	Human		name
407529056	CV3487703	single nucleotide variant	NM_203494.5(USP50):c.337T>G (p.Trp113Gly)	not specified [RCV004680664]	uncertain significance	15	50543705	50543705	Human		name
407529054	CV3487704	single nucleotide variant	NM_201286.4(USP51):c.861G>A (p.Met287Ile)	not specified [RCV004680665]	uncertain significance	X	55488079	55488079	Human		name
407529052	CV3487705	single nucleotide variant	NM_201286.4(USP51):c.911C>T (p.Thr304Ile)	not specified [RCV004680666]	uncertain significance	X	55488029	55488029	Human		name
407529050	CV3487706	single nucleotide variant	NM_201286.4(USP51):c.662G>T (p.Ser221Ile)	not specified [RCV004680667]	uncertain significance	X	55488278	55488278	Human		name
407529046	CV3487709	single nucleotide variant	NM_201286.4(USP51):c.370C>T (p.Pro124Ser)	not specified [RCV004680669]	uncertain significance	X	55488570	55488570	Human		name
597696910	CV3623217	single nucleotide variant	NM_203494.5(USP50):c.745A>T (p.Thr249Ser)	not specified [RCV004885208]	uncertain significance	15	50538767	50538767	Human		name
597799108	CV3623218	single nucleotide variant	NM_203494.5(USP50):c.386A>G (p.Gln129Arg)	not specified [RCV004879536]	uncertain significance	15	50543656	50543656	Human		name
597799110	CV3623219	single nucleotide variant	NM_203494.5(USP50):c.866A>C (p.Asn289Thr)	not specified [RCV004879537]	uncertain significance	15	50529867	50529867	Human		name
597696920	CV3623220	single nucleotide variant	NM_203494.5(USP50):c.635C>T (p.Pro212Leu)	not specified [RCV004885209]	uncertain significance	15	50541074	50541074	Human		name
597799113	CV3623222	single nucleotide variant	NM_203494.5(USP50):c.725T>G (p.Phe242Cys)	not specified [RCV004879539]	uncertain significance	15	50538787	50538787	Human		name
597696928	CV3623223	single nucleotide variant	NM_203494.5(USP50):c.758C>A (p.Ala253Asp)	not specified [RCV004885210]	uncertain significance	15	50538754	50538754	Human		name
597799115	CV3623224	single nucleotide variant	NM_201286.4(USP51):c.500C>T (p.Ser167Phe)	not specified [RCV004879540]	uncertain significance	X	55488440	55488440	Human		name
597696937	CV3623225	single nucleotide variant	NM_201286.4(USP51):c.887A>G (p.Asp296Gly)	not specified [RCV004885211]	uncertain significance	X	55488053	55488053	Human		name
597696944	CV3623226	single nucleotide variant	NM_201286.4(USP51):c.416C>G (p.Pro139Arg)	not specified [RCV004885212]	uncertain significance	X	55488524	55488524	Human		name
597642668	CV3623233	single nucleotide variant	NM_001371395.1(USP53):c.23G>A (p.Arg8Gln)	Inborn genetic diseases [RCV004971999]	uncertain significance	4	119239782	119239782	Human	1	name
598204558	CV3932948	single nucleotide variant	NM_203494.5(USP50):c.311C>T (p.Ser104Leu)	not specified [RCV005290711]	uncertain significance	15	50543731	50543731	Human		name
598238934	CV3932949	single nucleotide variant	NM_203494.5(USP50):c.455C>T (p.Ser152Phe)	not specified [RCV005296500]	uncertain significance	15	50541254	50541254	Human		name
598238938	CV3932950	single nucleotide variant	NM_203494.5(USP50):c.424C>A (p.Leu142Ile)	not specified [RCV005296501]	uncertain significance	15	50543618	50543618	Human		name
598238943	CV3932951	single nucleotide variant	NM_201286.4(USP51):c.401C>T (p.Pro134Leu)	not specified [RCV005296502]	uncertain significance	X	55488539	55488539	Human		name
598238949	CV3932952	single nucleotide variant	NM_201286.4(USP51):c.394C>T (p.Pro132Ser)	not specified [RCV005296503]	uncertain significance	X	55488546	55488546	Human		name
598238954	CV3932953	single nucleotide variant	NM_201286.4(USP51):c.374C>G (p.Pro125Arg)	not specified [RCV005296504]	uncertain significance	X	55488566	55488566	Human		name
598238960	CV3932954	single nucleotide variant	NM_201286.4(USP51):c.488G>C (p.Arg163Pro)	not specified [RCV005296505]	uncertain significance	X	55488452	55488452	Human		name
15166979	CV703241	single nucleotide variant	NM_203494.5(USP50):c.962G>C (p.Gly321Ala)	not provided [RCV000948956]	benign	15	50500812	50500812	Human		name
8625703	CV80827	single nucleotide variant	NM_019050.2(USP53):c.400C>T (p.His134Tyr)	Malignant melanoma [RCV000060904]	not provided	4	119256273	119256273	Human		name
156174379	CV2051865	single nucleotide variant	NM_001371395.1(USP53):c.738A>G (p.Thr246=)	not provided [RCV002828093]	benign	4	119260569	119260569	Human		name
156025441	CV2112440	deletion	NM_001371395.1(USP53):c.108del (p.Gly37fs)	not provided [RCV002909814]	pathogenic	4	119239867	119239867	Human		name
155993936	CV2112879	single nucleotide variant	NM_001371395.1(USP53):c.873T>G (p.Leu291=)	not provided [RCV002947465]	benign	4	119261765	119261765	Human		name
329392952	CV2449400	single nucleotide variant	NM_201286.4(USP51):c.1312C>T (p.His438Tyr)	not specified [RCV004266560]	uncertain significance	X	55487628	55487628	Human		name
401891758	CV2779408	single nucleotide variant	NM_201286.4(USP51):c.1173C>A (p.Phe391Leu)	not specified [RCV004351052]	uncertain significance	X	55487767	55487767	Human		name
405040826	CV2862659	single nucleotide variant	NM_001371395.1(USP53):c.387G>A (p.Glu129=)	not provided [RCV003579096]	benign	4	119256260	119256260	Human		name
405071965	CV2876613	single nucleotide variant	NM_001371395.1(USP53):c.363G>A (p.Ala121=)	not provided [RCV003548585]	likely benign	4	119248873	119248873	Human		name
405244721	CV3050756	single nucleotide variant	NM_001371395.1(USP53):c.759C>T (p.Ser253=)	not provided [RCV003720071]	likely benign	4	119260590	119260590	Human		name
402513492	CV3178731	single nucleotide variant	NM_001371395.1(USP53):c.738A>C (p.Thr246=)	not provided [RCV003879164]	likely benign	4	119260569	119260569	Human		name
405801035	CV3338386	single nucleotide variant	NM_203494.5(USP50):c.1000G>C (p.Ala334Pro)	not specified [RCV004477585]	uncertain significance	15	50500774	50500774	Human		name
405801132	CV3338394	single nucleotide variant	NM_201286.4(USP51):c.1562C>G (p.Ser521Cys)	not specified [RCV004477593]	uncertain significance	X	55487378	55487378	Human		name
405801128	CV3338396	single nucleotide variant	NM_201286.4(USP51):c.2122C>G (p.Leu708Val)	not specified [RCV004477595]	uncertain significance	X	55486818	55486818	Human		name
405801075	CV3338431	single nucleotide variant	NM_001391956.1(USP54):c.35G>A (p.Arg12His)	not specified [RCV004477630]	uncertain significance	10	73575624	73575624	Human		name
407464658	CV3487708	single nucleotide variant	NM_201286.4(USP51):c.1973A>G (p.His658Arg)	not specified [RCV004688562]	uncertain significance	X	55486967	55486967	Human		name
407529044	CV3487710	single nucleotide variant	NM_201286.4(USP51):c.1697C>T (p.Ala566Val)	not specified [RCV004680670]	uncertain significance	X	55487243	55487243	Human		name
597696954	CV3623227	single nucleotide variant	NM_201286.4(USP51):c.1188C>A (p.His396Gln)	not specified [RCV004885213]	uncertain significance	X	55487752	55487752	Human		name
597696961	CV3623228	single nucleotide variant	NM_201286.4(USP51):c.1136A>T (p.Gln379Leu)	not specified [RCV004885214]	uncertain significance	X	55487804	55487804	Human		name
597845281	CV3761542	single nucleotide variant	NM_001371395.1(USP53):c.675T>C (p.Pro225=)	not provided [RCV005087142]	uncertain significance	4	119259925	119259925	Human		name
598204564	CV3932955	single nucleotide variant	NM_201286.4(USP51):c.2011C>T (p.Arg671Trp)	not specified [RCV005290712]	uncertain significance	X	55486929	55486929	Human		name
598238996	CV3932964	single nucleotide variant	NM_001371395.1(USP53):c.44G>A (p.Gly15Glu)	Inborn genetic diseases [RCV005296512]	uncertain significance	4	119239803	119239803	Human	1	name
151235517	CV1318843	deletion	NM_001371395.1(USP53):c.951del (p.Phe317fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795663]	pathogenic	4	119261838	119261838	Human	1	name
151235519	CV1318849	deletion	NM_001371395.1(USP53):c.510del (p.Ser171fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795665]	pathogenic	4	119256464	119256464	Human	1	name
151349067	CV1324325	single nucleotide variant	NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001808242]	likely pathogenic	4	119245397	119245397	Human	1	name
151727849	CV1517438	single nucleotide variant	NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002052053]	likely pathogenic	4	119245350	119245350	Human	1	name
156103719	CV1907294	single nucleotide variant	NM_001371395.1(USP53):c.1218G>A (p.Gln406=)	not provided [RCV003080702]	likely benign	4	119268350	119268350	Human		name
156439071	CV1943939	single nucleotide variant	NM_001371395.1(USP53):c.2985A>G (p.Thr995=)	not provided [RCV003109024]	likely benign	4	119292974	119292974	Human		name
156287867	CV2047058	single nucleotide variant	NM_001371395.1(USP53):c.1704T>C (p.Asp568=)	not provided [RCV002770640]	likely benign	4	119271564	119271564	Human		name
155947459	CV2062336	single nucleotide variant	NM_001371395.1(USP53):c.2619G>A (p.Lys873=)	not provided [RCV002816071]	likely benign	4	119292608	119292608	Human		name
155986851	CV2097906	single nucleotide variant	NM_001371395.1(USP53):c.2187G>A (p.Thr729=)	not provided [RCV002882202]	benign	4	119273644	119273644	Human		name
156342421	CV2103447	single nucleotide variant	NM_001371395.1(USP53):c.1617T>C (p.Ile539=)	not provided [RCV002900551]	benign	4	119271477	119271477	Human		name
156087072	CV2134608	single nucleotide variant	NM_001371395.1(USP53):c.1527T>C (p.His509=)	not provided [RCV002979466]	likely benign	4	119271387	119271387	Human		name
156271830	CV2297058	single nucleotide variant	NM_001371395.1(USP53):c.277C>T (p.Leu93Phe)	Inborn genetic diseases [RCV002895954]	uncertain significance	4	119248787	119248787	Human	1	name
156289617	CV2309731	single nucleotide variant	NM_001371395.1(USP53):c.289A>G (p.Asn97Asp)	Inborn genetic diseases [RCV002897079]\|not provided [RCV003561119]	uncertain significance	4	119248799	119248799	Human	1	name
243055037	CV2408433	deletion	NM_001371395.1(USP53):c.829del (p.Tyr277fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003131853]	likely pathogenic	4	119261716	119261716	Human	1	name
329391296	CV2452222	single nucleotide variant	NM_001371395.1(USP53):c.280C>T (p.Pro94Ser)	Inborn genetic diseases [RCV003217215]	uncertain significance	4	119248790	119248790	Human	1	name
401781659	CV2722209	single nucleotide variant	NM_001391956.1(USP54):c.163G>A (p.Asp55Asn)	not specified [RCV004328774]	uncertain significance	10	73571498	73571498	Human		name
401938406	CV2809374	single nucleotide variant	NM_001391956.1(USP54):c.2974T>C (p.Leu992=)	not provided [RCV003417502]	likely benign	10	73517452	73517452	Human		name
405008271	CV2853228	single nucleotide variant	NM_001371395.1(USP53):c.153G>A (p.Trp51Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003494422]	likely pathogenic	4	119245345	119245345	Human	1	name
402506121	CV2880658	single nucleotide variant	NM_001371395.1(USP53):c.2766C>A (p.Pro922=)	not provided [RCV003546381]	likely benign	4	119292755	119292755	Human		name
405223239	CV2891301	single nucleotide variant	NM_001371395.1(USP53):c.2118C>T (p.Ile706=)	not provided [RCV003554242]	likely benign	4	119271978	119271978	Human		name
405118122	CV3020332	single nucleotide variant	NM_001371395.1(USP53):c.2388A>G (p.Ser796=)	not provided [RCV003700379]	benign	4	119292377	119292377	Human		name
405185199	CV3058487	single nucleotide variant	NM_001371395.1(USP53):c.1770A>G (p.Thr590=)	not provided [RCV003729195]	likely benign	4	119271630	119271630	Human		name
405132251	CV3130078	single nucleotide variant	NM_001371395.1(USP53):c.1278G>C (p.Gly426=)	not provided [RCV003838501]	likely benign	4	119268410	119268410	Human		name
405047638	CV3141722	single nucleotide variant	NM_001371395.1(USP53):c.1467A>G (p.Gln489=)	not provided [RCV003831823]	likely benign	4	119271327	119271327	Human		name
405705607	CV3224818	single nucleotide variant	NM_001371395.1(USP53):c.146T>A (p.Val49Asp)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003990198]	uncertain significance	4	119245338	119245338	Human	1	name
405801068	CV3338427	single nucleotide variant	NM_001391956.1(USP54):c.268A>G (p.Ser90Gly)	not specified [RCV004477626]	uncertain significance	10	73545645	73545645	Human		name
407528966	CV3487717	single nucleotide variant	NM_001371395.1(USP53):c.286G>C (p.Asp96His)	Inborn genetic diseases [RCV004680677]	uncertain significance	4	119248796	119248796	Human	1	name
597642802	CV3623231	single nucleotide variant	NM_001371395.1(USP53):c.290A>G (p.Asn97Ser)	Inborn genetic diseases [RCV004971997]	uncertain significance	4	119248800	119248800	Human	1	name
597857674	CV3816773	single nucleotide variant	NM_001371395.1(USP53):c.197A>G (p.His66Arg)	not provided [RCV005146346]	uncertain significance	4	119245389	119245389	Human		name
597861404	CV3880829	deletion	NM_001371395.1(USP53):c.336del (p.Gln113fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005229663]	likely pathogenic	4	119248844	119248844	Human	1	name
598122388	CV3889838	single nucleotide variant	NM_001371395.1(USP53):c.136G>T (p.Ala46Ser)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005247942]	likely pathogenic	4	119239895	119239895	Human	1	name
598238976	CV3932960	single nucleotide variant	NM_001371395.1(USP53):c.292A>G (p.Ile98Val)	Inborn genetic diseases [RCV005296508]	uncertain significance	4	119248802	119248802	Human	1	name
598204578	CV3932967	single nucleotide variant	NM_001371395.1(USP53):c.194G>A (p.Gly65Glu)	Inborn genetic diseases [RCV005290715]	uncertain significance	4	119245386	119245386	Human	1	name
598204586	CV3932977	single nucleotide variant	NM_001391956.1(USP54):c.208A>G (p.Met70Val)	not specified [RCV005290717]	uncertain significance	10	73571453	73571453	Human		name
598239059	CV3932983	single nucleotide variant	NM_001391956.1(USP54):c.185G>A (p.Arg62Lys)	not specified [RCV005296524]	uncertain significance	10	73571476	73571476	Human		name
14399879	CV610451	single nucleotide variant	NM_001371395.1(USP53):c.173G>A (p.Arg58Gln)	Premature ovarian insufficiency [RCV000766148]\|not provided [RCV005092178]	uncertain significance	4	119245365	119245365	Human	2	name
15040186	CV682409	single nucleotide variant	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	Cholestasis [RCV000856552]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796278]	pathogenic	4	119245361	119245361	Human	3	name
15040187	CV682410	single nucleotide variant	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	Cholestasis [RCV000856553]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796279]	pathogenic	4	119248807	119248807	Human	3	name
15040190	CV682412	deletion	NM_001371395.1(USP53):c.583del (p.Arg195fs)	Cholestasis [RCV000856556]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796280]	pathogenic	4	119259831	119259831	Human	3	name
15186199	CV698353	single nucleotide variant	NM_001371395.1(USP53):c.241A>T (p.Ile81Leu)	not provided [RCV000953212]	benign	4	119248751	119248751	Human		name
151235518	CV1318848	single nucleotide variant	NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795664]	pathogenic	4	119260556	119260556	Human	1	name
151728813	CV1517575	single nucleotide variant	NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002052191]	likely pathogenic	4	119248841	119248841	Human	1	name
152979944	CV1678300	deletion	NM_001371395.1(USP53):c.1687del (p.Ser563fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002246805]	pathogenic	4	119271547	119271547	Human	1	name
155268290	CV1701713	duplication	NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283943]	likely pathogenic	4	119239836	119239837	Human	1	name
156384580	CV1961122	single nucleotide variant	NM_001371395.1(USP53):c.554C>T (p.Ser185Phe)	not provided [RCV002583395]	uncertain significance	4	119256508	119256508	Human		name
155986718	CV2091216	single nucleotide variant	NM_001371395.1(USP53):c.3015C>T (p.Asn1005=)	not provided [RCV002907961]	benign\|likely benign	4	119293004	119293004	Human		name
155986879	CV2097907	single nucleotide variant	NM_001371395.1(USP53):c.3147T>C (p.Tyr1049=)	not provided [RCV002882203]	benign	4	119293136	119293136	Human		name
156101916	CV2103584	single nucleotide variant	NM_001371395.1(USP53):c.461A>G (p.Lys154Arg)	not provided [RCV002927079]	likely benign	4	119256334	119256334	Human		name
156350152	CV2122070	duplication	NM_001371395.1(USP53):c.1948dup (p.Ile650fs)	not provided [RCV002966238]	pathogenic	4	119271805	119271806	Human		name
156144340	CV2134356	duplication	NM_001371395.1(USP53):c.2068dup (p.Ser690fs)	not provided [RCV002982429]	pathogenic	4	119271925	119271926	Human		name
156237992	CV2207043	single nucleotide variant	NM_001371395.1(USP53):c.614C>T (p.Pro205Leu)	Inborn genetic diseases [RCV002701659]	uncertain significance	4	119259864	119259864	Human	1	name
156246409	CV2219090	single nucleotide variant	NM_001371395.1(USP53):c.311A>C (p.Glu104Ala)	Inborn genetic diseases [RCV002702164]	uncertain significance	4	119248821	119248821	Human	1	name
156298802	CV2240997	single nucleotide variant	NM_001391956.1(USP54):c.427G>A (p.Asp143Asn)	not specified [RCV004102265]	uncertain significance	10	73543080	73543080	Human		name
156026834	CV2271112	single nucleotide variant	NM_001371395.1(USP53):c.952G>C (p.Asp318His)	Inborn genetic diseases [RCV002845082]	uncertain significance	4	119261844	119261844	Human	1	name
156182114	CV2288226	single nucleotide variant	NM_001391956.1(USP54):c.851G>A (p.Arg284Gln)	not specified [RCV004149737]	uncertain significance	10	73539568	73539568	Human		name
156008102	CV2288479	single nucleotide variant	NM_001391956.1(USP54):c.517T>G (p.Ser173Ala)	not specified [RCV004152018]	uncertain significance	10	73542858	73542858	Human		name
156149047	CV2307382	single nucleotide variant	NM_001371395.1(USP53):c.916G>A (p.Ala306Thr)	Inborn genetic diseases [RCV002915268]	uncertain significance	4	119261808	119261808	Human	1	name
155981301	CV2337027	single nucleotide variant	NM_001391956.1(USP54):c.986A>G (p.Lys329Arg)	not specified [RCV004192795]	uncertain significance	10	73536427	73536427	Human		name
329380400	CV2466603	single nucleotide variant	NM_001371395.1(USP53):c.371T>A (p.Phe124Tyr)	Inborn genetic diseases [RCV003212760]	uncertain significance	4	119248881	119248881	Human	1	name
401754331	CV2722628	single nucleotide variant	NM_001371395.1(USP53):c.874G>A (p.Val292Ile)	Inborn genetic diseases [RCV003277993]	uncertain significance	4	119261766	119261766	Human	1	name
401856623	CV2752610	single nucleotide variant	NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003340948]\|Inborn genetic diseases [RCV003341568]	uncertain significance	4	119267323	119267323	Human	2	name
401889520	CV2756653	single nucleotide variant	NM_001391956.1(USP54):c.842C>T (p.Thr281Met)	not specified [RCV004345170]	uncertain significance	10	73539577	73539577	Human		name
401886806	CV2767918	single nucleotide variant	NM_001371395.1(USP53):c.821G>A (p.Gly274Glu)	Inborn genetic diseases [RCV003352130]	uncertain significance	4	119260652	119260652	Human	1	name
401896588	CV2791680	single nucleotide variant	NM_001371395.1(USP53):c.857A>T (p.Asn286Ile)	Inborn genetic diseases [RCV003374224]	uncertain significance	4	119261749	119261749	Human	1	name
405124307	CV2889527	single nucleotide variant	NM_001371395.1(USP53):c.908G>A (p.Cys303Tyr)	not provided [RCV003559418]	benign	4	119261800	119261800	Human		name
405801047	CV3338416	single nucleotide variant	NM_001371395.1(USP53):c.332G>A (p.Arg111Gln)	Inborn genetic diseases [RCV004477615]	uncertain significance	4	119248842	119248842	Human	1	name
405801048	CV3338417	single nucleotide variant	NM_001371395.1(USP53):c.424G>C (p.Asp142His)	Inborn genetic diseases [RCV004477616]	uncertain significance	4	119256297	119256297	Human	1	name
405801050	CV3338418	single nucleotide variant	NM_001371395.1(USP53):c.428T>C (p.Met143Thr)	Inborn genetic diseases [RCV004477617]	uncertain significance	4	119256301	119256301	Human	1	name
405801054	CV3338420	single nucleotide variant	NM_001371395.1(USP53):c.790C>T (p.Arg264Trp)	Inborn genetic diseases [RCV004477619]	uncertain significance	4	119260621	119260621	Human	1	name
405801077	CV3338432	single nucleotide variant	NM_001391956.1(USP54):c.381C>A (p.Asn127Lys)	not specified [RCV004477631]	uncertain significance	10	73543126	73543126	Human		name
405801079	CV3338433	single nucleotide variant	NM_001391956.1(USP54):c.392G>A (p.Arg131Lys)	not specified [RCV004477632]	uncertain significance	10	73543115	73543115	Human		name
405801097	CV3338442	single nucleotide variant	NM_001391956.1(USP54):c.544G>A (p.Val182Ile)	not specified [RCV004477641]	uncertain significance	10	73542831	73542831	Human		name
405801099	CV3338443	single nucleotide variant	NM_001391956.1(USP54):c.587G>A (p.Cys196Tyr)	not specified [RCV004477642]	uncertain significance	10	73541724	73541724	Human		name
405801146	CV3338444	single nucleotide variant	NM_001391956.1(USP54):c.696G>T (p.Arg232Ser)	not specified [RCV004477643]	uncertain significance	10	73541504	73541504	Human		name
405801148	CV3338445	single nucleotide variant	NM_001391956.1(USP54):c.720G>C (p.Met240Ile)	not specified [RCV004477644]	uncertain significance	10	73541480	73541480	Human		name
407529041	CV3487712	single nucleotide variant	NM_001371395.1(USP53):c.659A>C (p.Asp220Ala)	Inborn genetic diseases [RCV004680672]	uncertain significance	4	119259909	119259909	Human	1	name
407528989	CV3487734	single nucleotide variant	NM_001391956.1(USP54):c.446A>G (p.His149Arg)	not specified [RCV004680691]	uncertain significance	10	73543061	73543061	Human		name
408393645	CV3529516	duplication	NM_001371395.1(USP53):c.1069dup (p.Ser357fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV004776357]	pathogenic	4	119267413	119267414	Human	1	name
597642541	CV3623235	single nucleotide variant	NM_001371395.1(USP53):c.685G>A (p.Gly229Ser)	Inborn genetic diseases [RCV004972001]	uncertain significance	4	119260516	119260516	Human	1	name
597642552	CV3623240	single nucleotide variant	NM_001371395.1(USP53):c.713T>C (p.Leu238Ser)	Inborn genetic diseases [RCV004972006]	uncertain significance	4	119260544	119260544	Human	1	name
597799120	CV3623246	single nucleotide variant	NM_001391956.1(USP54):c.553A>G (p.Ile185Val)	not specified [RCV004879542]	uncertain significance	10	73542822	73542822	Human		name
597697012	CV3623257	single nucleotide variant	NM_001391956.1(USP54):c.680G>T (p.Ser227Ile)	not specified [RCV004885220]	uncertain significance	10	73541520	73541520	Human		name
597830639	CV3743177	single nucleotide variant	NM_001371395.1(USP53):c.3138G>A (p.Thr1046=)	not provided [RCV005062185]	likely benign	4	119293127	119293127	Human		name
597963917	CV3792072	single nucleotide variant	NM_001371395.1(USP53):c.307G>A (p.Ala103Thr)	not provided [RCV005139628]	uncertain significance	4	119248817	119248817	Human		name
598204573	CV3932959	single nucleotide variant	NM_001371395.1(USP53):c.497G>A (p.Arg166His)	Inborn genetic diseases [RCV005290714]	uncertain significance	4	119256451	119256451	Human	1	name
598238986	CV3932962	single nucleotide variant	NM_001371395.1(USP53):c.704G>T (p.Arg235Leu)	Inborn genetic diseases [RCV005296510]	uncertain significance	4	119260535	119260535	Human	1	name
598239026	CV3932972	single nucleotide variant	NM_001391956.1(USP54):c.858G>C (p.Lys286Asn)	not specified [RCV005296518]	uncertain significance	10	73539561	73539561	Human		name
617150609	CV4017680	single nucleotide variant	NM_001371395.1(USP53):c.431G>A (p.Cys144Tyr)	not provided [RCV005417338]	uncertain significance	4	119256304	119256304	Human		name
15040188	CV682411	single nucleotide variant	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	Cholestasis [RCV000856554]	likely pathogenic	4	119256268	119256268	Human	2	name
15040192	CV682414	single nucleotide variant	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	Cholestasis [RCV000856558]	likely pathogenic	4	119261770	119261770	Human	2	name
155799549	CV1862536	single nucleotide variant	NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002471943]\|Inborn genetic diseases [RCV002571472]\|not provided [RCV002571471]	likely benign\|uncertain significance	4	119271562	119271562	Human	2	name
155799795	CV1862631	single nucleotide variant	NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002472038]\|not provided [RCV002571477]	benign\|uncertain significance	4	119271862	119271862	Human	1	name
156228277	CV1896540	single nucleotide variant	NM_001371395.1(USP53):c.2533G>A (p.Val845Ile)	Inborn genetic diseases [RCV003367997]\|not provided [RCV003085261]	uncertain significance	4	119292522	119292522	Human	1	name
155958682	CV1911929	single nucleotide variant	NM_001371395.1(USP53):c.1280A>G (p.Lys427Arg)	not provided [RCV002616622]	uncertain significance	4	119268412	119268412	Human		name
155968575	CV1967986	single nucleotide variant	NM_001371395.1(USP53):c.2210G>A (p.Arg737His)	not provided [RCV002617073]	uncertain significance	4	119273667	119273667	Human		name
156302993	CV2003522	single nucleotide variant	NM_001371395.1(USP53):c.1640C>A (p.Thr547Asn)	not provided [RCV002671247]	uncertain significance	4	119271500	119271500	Human		name
156022192	CV2040730	single nucleotide variant	NM_001371395.1(USP53):c.1759A>G (p.Met587Val)	not provided [RCV002795640]	uncertain significance	4	119271619	119271619	Human		name
156028887	CV2105267	single nucleotide variant	NM_001371395.1(USP53):c.1979G>C (p.Gly660Ala)	not provided [RCV002909973]	uncertain significance	4	119271839	119271839	Human		name
156333240	CV2112880	single nucleotide variant	NM_001371395.1(USP53):c.1661A>G (p.Asn554Ser)	not provided [RCV002938484]	benign	4	119271521	119271521	Human		name
156002932	CV2119113	single nucleotide variant	NM_001371395.1(USP53):c.1466A>T (p.Gln489Leu)	not provided [RCV002975271]	uncertain significance	4	119271326	119271326	Human		name
155981608	CV2157365	single nucleotide variant	NM_001371395.1(USP53):c.2918T>G (p.Val973Gly)	not provided [RCV003016407]	uncertain significance	4	119292907	119292907	Human		name
156370269	CV2190722	single nucleotide variant	NM_001371395.1(USP53):c.2886T>G (p.Ser962Arg)	not provided [RCV003066232]	benign	4	119292875	119292875	Human	3	name
155964094	CV2194229	single nucleotide variant	NM_001391956.1(USP54):c.2104C>T (p.Arg702Cys)	not specified [RCV004079351]	uncertain significance	10	73526737	73526737	Human		name
156143621	CV2208653	single nucleotide variant	NM_001391956.1(USP54):c.1732C>T (p.Pro578Ser)	not specified [RCV004091167]	uncertain significance	10	73530239	73530239	Human		name
155931639	CV2221068	single nucleotide variant	NM_001391956.1(USP54):c.1670T>G (p.Ile557Arg)	not specified [RCV004094527]	uncertain significance	10	73530301	73530301	Human		name
156283244	CV2230904	single nucleotide variant	NM_001391956.1(USP54):c.2981C>G (p.Ala994Gly)	not specified [RCV004092376]	uncertain significance	10	73517445	73517445	Human		name
155945165	CV2237945	single nucleotide variant	NM_001391956.1(USP54):c.2906T>C (p.Phe969Ser)	not specified [RCV004110988]	uncertain significance	10	73517520	73517520	Human		name
156029098	CV2238284	single nucleotide variant	NM_001371395.1(USP53):c.2611G>C (p.Gly871Arg)	Inborn genetic diseases [RCV002757934]	uncertain significance	4	119292600	119292600	Human	1	name
155915850	CV2239582	single nucleotide variant	NM_001391956.1(USP54):c.2083G>C (p.Ala695Pro)	not specified [RCV004108149]	uncertain significance	10	73526758	73526758	Human		name
155983185	CV2239958	single nucleotide variant	NM_001391956.1(USP54):c.2069G>A (p.Ser690Asn)	not specified [RCV004110756]	uncertain significance	10	73526772	73526772	Human		name
156241732	CV2246150	single nucleotide variant	NM_001391956.1(USP54):c.1810C>T (p.Pro604Ser)	not specified [RCV004114046]	uncertain significance	10	73530161	73530161	Human		name
155923322	CV2251919	single nucleotide variant	NM_001391956.1(USP54):c.2048C>T (p.Ser683Leu)	not specified [RCV004119889]	uncertain significance	10	73529692	73529692	Human		name
156357760	CV2254135	single nucleotide variant	NM_001391956.1(USP54):c.2308G>A (p.Gly770Arg)	not specified [RCV004129571]	uncertain significance	10	73523637	73523637	Human		name
156237863	CV2265286	single nucleotide variant	NM_001391956.1(USP54):c.1013T>C (p.Ile338Thr)	not specified [RCV004128180]	uncertain significance	10	73536400	73536400	Human		name
156360660	CV2269080	single nucleotide variant	NM_001371395.1(USP53):c.1780G>A (p.Asp594Asn)	Inborn genetic diseases [RCV002812770]	uncertain significance	4	119271640	119271640	Human	1	name
156289848	CV2299402	single nucleotide variant	NM_001391956.1(USP54):c.2497G>A (p.Ala833Thr)	not specified [RCV004154488]	uncertain significance	10	73519978	73519978	Human		name
156081336	CV2301074	single nucleotide variant	NM_001371395.1(USP53):c.2390C>G (p.Ser797Cys)	Inborn genetic diseases [RCV002887461]	uncertain significance	4	119292379	119292379	Human	1	name
155972277	CV2309391	single nucleotide variant	NM_001391956.1(USP54):c.1411G>A (p.Gly471Ser)	not specified [RCV004165539]	uncertain significance	10	73530740	73530740	Human		name
156155978	CV2314343	single nucleotide variant	NM_001371395.1(USP53):c.1150G>A (p.Val384Ile)	Inborn genetic diseases [RCV002915681]	uncertain significance	4	119268282	119268282	Human	1	name
156079800	CV2341285	single nucleotide variant	NM_001391956.1(USP54):c.1385G>T (p.Arg462Met)	not specified [RCV004186695]	uncertain significance	10	73530766	73530766	Human		name
156192113	CV2356932	single nucleotide variant	NM_001391956.1(USP54):c.1049C>T (p.Ala350Val)	not specified [RCV004204303]	uncertain significance	10	73536364	73536364	Human		name
156164814	CV2376294	single nucleotide variant	NM_001371395.1(USP53):c.2525C>G (p.Pro842Arg)	Inborn genetic diseases [RCV002698489]	uncertain significance	4	119292514	119292514	Human	1	name
156105056	CV2386996	single nucleotide variant	NM_001391956.1(USP54):c.2452G>A (p.Ala818Thr)	not specified [RCV004226750]	uncertain significance	10	73520938	73520938	Human		name
156151562	CV2394759	single nucleotide variant	NM_001391956.1(USP54):c.1022A>G (p.His341Arg)	not specified [RCV004234433]	uncertain significance	10	73536391	73536391	Human		name
156114665	CV2397197	single nucleotide variant	NM_001391956.1(USP54):c.2873C>T (p.Ser958Leu)	not specified [RCV004238737]	uncertain significance	10	73517553	73517553	Human		name
155996042	CV2398489	single nucleotide variant	NM_001391956.1(USP54):c.2104C>A (p.Arg702Ser)	not specified [RCV004237812]	uncertain significance	10	73526737	73526737	Human		name
329356119	CV2430589	single nucleotide variant	NM_001371395.1(USP53):c.1077G>C (p.Glu359Asp)	Inborn genetic diseases [RCV003178052]	likely benign	4	119267424	119267424	Human	1	name
329356518	CV2430789	single nucleotide variant	NM_001391956.1(USP54):c.1829C>T (p.Ala610Val)	not specified [RCV004253966]	uncertain significance	10	73529911	73529911	Human		name
329361120	CV2436688	single nucleotide variant	NM_001371395.1(USP53):c.1577G>A (p.Arg526Gln)	Inborn genetic diseases [RCV003180240]	uncertain significance	4	119271437	119271437	Human	1	name
401735520	CV2687604	single nucleotide variant	NM_001391956.1(USP54):c.1543A>G (p.Met515Val)	not specified [RCV004300825]	uncertain significance	10	73530428	73530428	Human		name
401776042	CV2692580	single nucleotide variant	NM_001371395.1(USP53):c.1472G>A (p.Gly491Glu)	Inborn genetic diseases [RCV003286299]	uncertain significance	4	119271332	119271332	Human	1	name
401728588	CV2693653	single nucleotide variant	NM_001371395.1(USP53):c.1171T>G (p.Leu391Val)	Inborn genetic diseases [RCV003270656]	uncertain significance	4	119268303	119268303	Human	1	name
401775236	CV2710486	single nucleotide variant	NM_001391956.1(USP54):c.1925G>A (p.Arg642Gln)	not specified [RCV004319420]	uncertain significance	10	73529815	73529815	Human		name
401770172	CV2710948	single nucleotide variant	NM_001391956.1(USP54):c.2632T>C (p.Ser878Pro)	not specified [RCV004310664]	uncertain significance	10	73519843	73519843	Human		name
401743366	CV2715463	single nucleotide variant	NM_001391956.1(USP54):c.1208A>G (p.Lys403Arg)	not specified [RCV004326565]	uncertain significance	10	73534707	73534707	Human		name
401772070	CV2723040	single nucleotide variant	NM_001391956.1(USP54):c.1658G>A (p.Arg553His)	not specified [RCV004327207]	likely benign	10	73530313	73530313	Human		name
401766366	CV2725401	single nucleotide variant	NM_001391956.1(USP54):c.2621C>T (p.Pro874Leu)	not specified [RCV004320043]	uncertain significance	10	73519854	73519854	Human		name
401780098	CV2725871	single nucleotide variant	NM_001391956.1(USP54):c.1970G>A (p.Arg657Gln)	not specified [RCV004324255]	uncertain significance	10	73529770	73529770	Human		name
401734519	CV2736954	single nucleotide variant	NM_001371395.1(USP53):c.1744C>T (p.Arg582Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003988105]\|See cases [RCV003313717]\|not provided [RCV005416713]	pathogenic\|likely pathogenic	4	119271604	119271604	Human	1	name
401876669	CV2754429	single nucleotide variant	NM_001371395.1(USP53):c.1454T>C (p.Leu485Pro)	Inborn genetic diseases [RCV003363281]\|not provided [RCV003699070]	likely benign\|uncertain significance	4	119271314	119271314	Human	1	name
401893031	CV2758410	single nucleotide variant	NM_001371395.1(USP53):c.1093G>A (p.Val365Ile)	Inborn genetic diseases [RCV003356021]	uncertain significance	4	119267440	119267440	Human	1	name
401891698	CV2779321	single nucleotide variant	NM_001371395.1(USP53):c.1081G>A (p.Ala361Thr)	Inborn genetic diseases [RCV003355040]	uncertain significance	4	119267428	119267428	Human	1	name
401899995	CV2780160	single nucleotide variant	NM_001371395.1(USP53):c.2812G>A (p.Glu938Lys)	Inborn genetic diseases [RCV003378343]	uncertain significance	4	119292801	119292801	Human	1	name
405240191	CV2892798	single nucleotide variant	NM_001371395.1(USP53):c.2905C>A (p.Pro969Thr)	not provided [RCV003557242]	benign	4	119292894	119292894	Human		name
405005317	CV2929423	single nucleotide variant	NM_001371395.1(USP53):c.1082C>G (p.Ala361Gly)	not provided [RCV003576284]	benign	4	119267429	119267429	Human		name
405037268	CV3072600	single nucleotide variant	NM_001371395.1(USP53):c.2525C>T (p.Pro842Leu)	not provided [RCV003739474]	benign	4	119292514	119292514	Human		name
405081628	CV3137194	single nucleotide variant	NM_001371395.1(USP53):c.1444G>C (p.Asp482His)	Inborn genetic diseases [RCV004968496]\|not provided [RCV003834093]	uncertain significance	4	119271304	119271304	Human	1	name
405801109	CV3338406	single nucleotide variant	NM_001371395.1(USP53):c.1323A>G (p.Ile441Met)	Inborn genetic diseases [RCV004477605]	uncertain significance	4	119269725	119269725	Human	1	name
405801107	CV3338407	single nucleotide variant	NM_001371395.1(USP53):c.1357A>G (p.Ile453Val)	Inborn genetic diseases [RCV004477606]	uncertain significance	4	119269759	119269759	Human	1	name
405801105	CV3338408	single nucleotide variant	NM_001371395.1(USP53):c.1502A>G (p.Gln501Arg)	Inborn genetic diseases [RCV004477607]	uncertain significance	4	119271362	119271362	Human	1	name
405801103	CV3338409	single nucleotide variant	NM_001371395.1(USP53):c.1717T>G (p.Cys573Gly)	Inborn genetic diseases [RCV004477608]	uncertain significance	4	119271577	119271577	Human	1	name
405801101	CV3338410	single nucleotide variant	NM_001371395.1(USP53):c.2024A>G (p.His675Arg)	Inborn genetic diseases [RCV004477609]	uncertain significance	4	119271884	119271884	Human	1	name
405801037	CV3338411	single nucleotide variant	NM_001371395.1(USP53):c.2239C>A (p.His747Asn)	Inborn genetic diseases [RCV004477610]	likely benign	4	119273696	119273696	Human	1	name
405801039	CV3338412	single nucleotide variant	NM_001371395.1(USP53):c.2414A>G (p.His805Arg)	Inborn genetic diseases [RCV004477611]	uncertain significance	4	119292403	119292403	Human	1	name
405801041	CV3338413	single nucleotide variant	NM_001371395.1(USP53):c.2632C>T (p.Pro878Ser)	Inborn genetic diseases [RCV004477612]	uncertain significance	4	119292621	119292621	Human	1	name
405801043	CV3338414	single nucleotide variant	NM_001371395.1(USP53):c.2705G>A (p.Arg902Gln)	Inborn genetic diseases [RCV004477613]	likely benign	4	119292694	119292694	Human	1	name
405801045	CV3338415	single nucleotide variant	NM_001371395.1(USP53):c.2726G>C (p.Gly909Ala)	Inborn genetic diseases [RCV004477614]	uncertain significance	4	119292715	119292715	Human	1	name
405801056	CV3338421	single nucleotide variant	NM_001391956.1(USP54):c.1088C>T (p.Pro363Leu)	not specified [RCV004477620]	uncertain significance	10	73536325	73536325	Human		name
405801058	CV3338422	single nucleotide variant	NM_001391956.1(USP54):c.1414G>A (p.Asp472Asn)	not specified [RCV004477621]	uncertain significance	10	73530737	73530737	Human		name
405801060	CV3338423	single nucleotide variant	NM_001391956.1(USP54):c.1487C>T (p.Ser496Phe)	not specified [RCV004477622]	uncertain significance	10	73530484	73530484	Human		name
405801062	CV3338424	single nucleotide variant	NM_001391956.1(USP54):c.1897C>A (p.Pro633Thr)	not specified [RCV004477623]	uncertain significance	10	73529843	73529843	Human		name
405801064	CV3338425	single nucleotide variant	NM_001391956.1(USP54):c.2302G>A (p.Ala768Thr)	not specified [RCV004477624]	uncertain significance	10	73523643	73523643	Human		name
405801066	CV3338426	single nucleotide variant	NM_001391956.1(USP54):c.2624C>T (p.Ser875Leu)	not specified [RCV004477625]	uncertain significance	10	73519851	73519851	Human		name
405801069	CV3338428	single nucleotide variant	NM_001391956.1(USP54):c.2791G>C (p.Glu931Gln)	not specified [RCV004477627]	uncertain significance	10	73517635	73517635	Human		name
407529042	CV3487711	single nucleotide variant	NM_001371395.1(USP53):c.1489A>G (p.Asn497Asp)	Inborn genetic diseases [RCV004680671]	uncertain significance	4	119271349	119271349	Human	1	name
407529039	CV3487713	single nucleotide variant	NM_001371395.1(USP53):c.2186C>T (p.Thr729Met)	Inborn genetic diseases [RCV004680673]	uncertain significance	4	119273643	119273643	Human	1	name
407529037	CV3487714	single nucleotide variant	NM_001371395.1(USP53):c.1745G>A (p.Arg582Gln)	Inborn genetic diseases [RCV004680674]	uncertain significance	4	119271605	119271605	Human	1	name
407529034	CV3487716	single nucleotide variant	NM_001371395.1(USP53):c.2044C>G (p.Gln682Glu)	Inborn genetic diseases [RCV004680676]	uncertain significance	4	119271904	119271904	Human	1	name
407529078	CV3487719	single nucleotide variant	NM_001371395.1(USP53):c.1546T>C (p.Tyr516His)	Inborn genetic diseases [RCV004680679]	uncertain significance	4	119271406	119271406	Human	1	name
407464662	CV3487720	single nucleotide variant	NM_001371395.1(USP53):c.2675A>C (p.Glu892Ala)	Inborn genetic diseases [RCV004688563]	uncertain significance	4	119292664	119292664	Human	1	name
407528970	CV3487722	single nucleotide variant	NM_001391956.1(USP54):c.1655C>T (p.Ser552Phe)	not specified [RCV004680681]	uncertain significance	10	73530316	73530316	Human		name
407528977	CV3487727	single nucleotide variant	NM_001391956.1(USP54):c.1651C>A (p.His551Asn)	not specified [RCV004680685]	uncertain significance	10	73530320	73530320	Human		name
407528980	CV3487728	single nucleotide variant	NM_001391956.1(USP54):c.1247C>T (p.Ser416Phe)	not specified [RCV004680686]	uncertain significance	10	73534668	73534668	Human		name
407528983	CV3487730	single nucleotide variant	NM_001391956.1(USP54):c.2575C>T (p.Arg859Trp)	not specified [RCV004680688]	uncertain significance	10	73519900	73519900	Human		name
407528985	CV3487732	single nucleotide variant	NM_001391956.1(USP54):c.2812C>G (p.Pro938Ala)	not specified [RCV004680689]	uncertain significance	10	73517614	73517614	Human		name
407528987	CV3487733	single nucleotide variant	NM_001391956.1(USP54):c.2255C>T (p.Ala752Val)	not specified [RCV004680690]	uncertain significance	10	73523690	73523690	Human		name
408394107	CV3526351	single nucleotide variant	NM_001371395.1(USP53):c.1962T>A (p.Ser654Arg)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV004771783]	uncertain significance	4	119271822	119271822	Human	1	name
597642806	CV3623230	single nucleotide variant	NM_001371395.1(USP53):c.2056T>G (p.Ser686Ala)	Inborn genetic diseases [RCV004971996]	uncertain significance	4	119271916	119271916	Human	1	name
597642796	CV3623232	single nucleotide variant	NM_001371395.1(USP53):c.1838T>C (p.Ile613Thr)	Inborn genetic diseases [RCV004971998]	uncertain significance	4	119271698	119271698	Human	1	name
597642544	CV3623234	single nucleotide variant	NM_001371395.1(USP53):c.2429A>C (p.His810Pro)	Inborn genetic diseases [RCV004972000]	uncertain significance	4	119292418	119292418	Human	1	name
597642537	CV3623236	single nucleotide variant	NM_001371395.1(USP53):c.1001C>T (p.Ser334Phe)	Inborn genetic diseases [RCV004972002]	uncertain significance	4	119267348	119267348	Human	1	name
597642890	CV3623237	single nucleotide variant	NM_001371395.1(USP53):c.2209C>T (p.Arg737Cys)	Inborn genetic diseases [RCV004972003]	likely benign	4	119273666	119273666	Human	1	name
597642892	CV3623238	single nucleotide variant	NM_001371395.1(USP53):c.1649T>A (p.Val550Asp)	Inborn genetic diseases [RCV004972004]\|not provided [RCV005109993]	likely benign\|uncertain significance	4	119271509	119271509	Human	1	name
597642549	CV3623239	single nucleotide variant	NM_001371395.1(USP53):c.1843A>G (p.Asn615Asp)	Inborn genetic diseases [RCV004972005]	uncertain significance	4	119271703	119271703	Human	1	name
597642556	CV3623241	single nucleotide variant	NM_001371395.1(USP53):c.2308C>A (p.Pro770Thr)	Inborn genetic diseases [RCV004972007]	uncertain significance	4	119291221	119291221	Human	1	name
597642561	CV3623242	single nucleotide variant	NM_001371395.1(USP53):c.2429A>G (p.His810Arg)	Inborn genetic diseases [RCV004972008]	uncertain significance	4	119292418	119292418	Human	1	name
597642570	CV3623244	single nucleotide variant	NM_001371395.1(USP53):c.1850C>G (p.Pro617Arg)	Inborn genetic diseases [RCV004972010]	uncertain significance	4	119271710	119271710	Human	1	name
597799117	CV3623245	single nucleotide variant	NM_001391956.1(USP54):c.2734G>A (p.Gly912Ser)	not specified [RCV004879541]	uncertain significance	10	73517692	73517692	Human		name
597799122	CV3623247	single nucleotide variant	NM_001391956.1(USP54):c.2980G>A (p.Ala994Thr)	not specified [RCV004879543]	uncertain significance	10	73517446	73517446	Human		name
597799126	CV3623250	single nucleotide variant	NM_001391956.1(USP54):c.2021G>A (p.Ser674Asn)	not specified [RCV004879545]	uncertain significance	10	73529719	73529719	Human		name
597799130	CV3623253	single nucleotide variant	NM_001391956.1(USP54):c.2917G>A (p.Gly973Ser)	not specified [RCV004879547]	uncertain significance	10	73517509	73517509	Human		name
597799132	CV3623254	single nucleotide variant	NM_001391956.1(USP54):c.1864C>T (p.Pro622Ser)	not specified [RCV004879548]	uncertain significance	10	73529876	73529876	Human		name
597697006	CV3623256	single nucleotide variant	NM_001391956.1(USP54):c.2201A>G (p.Glu734Gly)	not specified [RCV004885219]	uncertain significance	10	73523744	73523744	Human		name
597799138	CV3623260	single nucleotide variant	NM_001391956.1(USP54):c.1440C>A (p.His480Gln)	not specified [RCV004879551]	uncertain significance	10	73530711	73530711	Human		name
597697024	CV3623261	single nucleotide variant	NM_001391956.1(USP54):c.1300A>G (p.Ser434Gly)	not specified [RCV004885221]	uncertain significance	10	73534615	73534615	Human		name
597799142	CV3623265	single nucleotide variant	NM_001391956.1(USP54):c.1786C>G (p.His596Asp)	not specified [RCV004879553]	uncertain significance	10	73530185	73530185	Human		name
597799144	CV3623266	single nucleotide variant	NM_001391956.1(USP54):c.2738T>C (p.Met913Thr)	not specified [RCV004879554]	likely benign	10	73517688	73517688	Human		name
597660629	CV3731850	single nucleotide variant	NM_001371395.1(USP53):c.1219A>T (p.Lys407Ter)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005002072]	pathogenic	4	119268351	119268351	Human	1	name
598204569	CV3932958	single nucleotide variant	NM_001371395.1(USP53):c.1271G>C (p.Gly424Ala)	Inborn genetic diseases [RCV005290713]	likely benign	4	119268403	119268403	Human	1	name
598238980	CV3932961	single nucleotide variant	NM_001371395.1(USP53):c.2116A>T (p.Ile706Phe)	Inborn genetic diseases [RCV005296509]	uncertain significance	4	119271976	119271976	Human	1	name
598238991	CV3932963	single nucleotide variant	NM_001371395.1(USP53):c.2612G>A (p.Gly871Glu)	Inborn genetic diseases [RCV005296511]	uncertain significance	4	119292601	119292601	Human	1	name
598239001	CV3932965	single nucleotide variant	NM_001371395.1(USP53):c.1662T>G (p.Asn554Lys)	Inborn genetic diseases [RCV005296513]	uncertain significance	4	119271522	119271522	Human	1	name
598239015	CV3932969	single nucleotide variant	NM_001371395.1(USP53):c.1925A>T (p.Tyr642Phe)	Inborn genetic diseases [RCV005296516]	uncertain significance	4	119271785	119271785	Human	1	name
598239021	CV3932970	single nucleotide variant	NM_001371395.1(USP53):c.2956T>G (p.Phe986Val)	Inborn genetic diseases [RCV005296517]	uncertain significance	4	119292945	119292945	Human	1	name
598239032	CV3932973	single nucleotide variant	NM_001391956.1(USP54):c.2852C>T (p.Ser951Phe)	not specified [RCV005296519]	uncertain significance	10	73517574	73517574	Human		name
598239043	CV3932975	single nucleotide variant	NM_001391956.1(USP54):c.1196G>C (p.Ser399Thr)	not specified [RCV005296521]	uncertain significance	10	73534719	73534719	Human		name
598204599	CV3932980	single nucleotide variant	NM_001391956.1(USP54):c.2579G>A (p.Ser860Asn)	not specified [RCV005290719]	uncertain significance	10	73519896	73519896	Human		name
598239065	CV3932984	single nucleotide variant	NM_001391956.1(USP54):c.2374G>A (p.Gly792Ser)	not specified [RCV005296525]	uncertain significance	10	73521016	73521016	Human		name
14399880	CV610452	single nucleotide variant	NM_001371395.1(USP53):c.1253G>A (p.Arg418Gln)	Premature ovarian insufficiency [RCV000766149]\|not provided [RCV005092179]	uncertain significance	4	119268385	119268385	Human	2	name
14399882	CV610453	single nucleotide variant	NM_001371395.1(USP53):c.2975T>G (p.Phe992Cys)	Premature ovarian insufficiency [RCV000766151]\|not provided [RCV005092180]	uncertain significance	4	119292964	119292964	Human	2	name
15039409	CV682119	single nucleotide variant	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	Cholestasis [RCV000856559]\|Cholestasis, progressive familial intrahepatic, (PFIC4-like) [RCV000855541]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796277]\|not provided [RCV003768634]	pathogenic	4	119267359	119267359	Human	4	name
15040193	CV682415	single nucleotide variant	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	Cholestasis [RCV000856560]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005225171]	pathogenic\|likely pathogenic	4	119269828	119269828	Human	3	name
15040194	CV682416	single nucleotide variant	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	Cholestasis [RCV000856561]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002051902]	pathogenic	4	119271418	119271418	Human	3	name
15185049	CV698354	single nucleotide variant	NM_001371395.1(USP53):c.2227C>A (p.Leu743Ile)	not provided [RCV000952865]	likely benign	4	119273684	119273684	Human		name
15150425	CV720732	single nucleotide variant	NM_001371395.1(USP53):c.1849C>T (p.Pro617Ser)	not provided [RCV000879379]	likely benign	4	119271709	119271709	Human		name
155918061	CV2195669	single nucleotide variant	NM_001391956.1(USP54):c.3626C>T (p.Ala1209Val)	not specified [RCV004076033]	uncertain significance	10	73516800	73516800	Human		name
155918491	CV2205894	single nucleotide variant	NM_001391956.1(USP54):c.4241G>A (p.Arg1414His)	not specified [RCV004078330]	uncertain significance	10	73504920	73504920	Human		name
156279048	CV2210106	single nucleotide variant	NM_001391956.1(USP54):c.4306A>G (p.Ser1436Gly)	not specified [RCV004078576]	uncertain significance	10	73504855	73504855	Human		name
156067422	CV2236971	single nucleotide variant	NM_001391956.1(USP54):c.3050G>A (p.Gly1017Glu)	not specified [RCV004112965]	uncertain significance	10	73517376	73517376	Human		name
156145316	CV2265042	single nucleotide variant	NM_001391956.1(USP54):c.4492C>T (p.Pro1498Ser)	not specified [RCV004126200]	uncertain significance	10	73500658	73500658	Human		name
156066252	CV2270765	single nucleotide variant	NM_001391956.1(USP54):c.4267G>A (p.Val1423Ile)	not specified [RCV004131823]	uncertain significance	10	73504894	73504894	Human		name
156132793	CV2276662	single nucleotide variant	NM_001391956.1(USP54):c.3461G>A (p.Ser1154Asn)	not specified [RCV004146466]	uncertain significance	10	73516965	73516965	Human		name
156173330	CV2284068	single nucleotide variant	NM_001391956.1(USP54):c.4880G>A (p.Arg1627Gln)	not specified [RCV004144671]	uncertain significance	10	73498804	73498804	Human		name
156351496	CV2323770	single nucleotide variant	NM_001391956.1(USP54):c.4741G>A (p.Val1581Ile)	not specified [RCV004176318]	uncertain significance	10	73498943	73498943	Human		name
156078286	CV2351102	single nucleotide variant	NM_001391956.1(USP54):c.3835C>T (p.Pro1279Ser)	not specified [RCV004213964]	likely benign	10	73516591	73516591	Human		name
155924494	CV2358163	single nucleotide variant	NM_001391956.1(USP54):c.4027G>A (p.Ala1343Thr)	not specified [RCV004211964]	uncertain significance	10	73516399	73516399	Human		name
156153670	CV2369415	single nucleotide variant	NM_001391956.1(USP54):c.4604G>A (p.Arg1535His)	not specified [RCV004210361]	uncertain significance	10	73499080	73499080	Human		name
156344928	CV2372841	single nucleotide variant	NM_001391956.1(USP54):c.4217A>G (p.Gln1406Arg)	not specified [RCV004222023]	uncertain significance	10	73504944	73504944	Human		name
156000844	CV2378747	single nucleotide variant	NM_001391956.1(USP54):c.3630A>T (p.Leu1210Phe)	not specified [RCV004231202]	uncertain significance	10	73516796	73516796	Human		name
329357858	CV2427861	single nucleotide variant	NM_001391956.1(USP54):c.3875C>T (p.Thr1292Met)	not specified [RCV004252634]	likely benign	10	73516551	73516551	Human		name
329385373	CV2432101	single nucleotide variant	NM_001391956.1(USP54):c.4249C>T (p.Arg1417Cys)	not provided [RCV004696342]\|not specified [RCV004249250]	uncertain significance	10	73504912	73504912	Human		name
329353763	CV2439540	single nucleotide variant	NM_001371395.1(USP53):c.3137C>T (p.Thr1046Met)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005248984]\|Inborn genetic diseases [RCV003201491]	uncertain significance	4	119293126	119293126	Human	2	name
329375018	CV2444827	single nucleotide variant	NM_001391956.1(USP54):c.4082A>G (p.His1361Arg)	not specified [RCV004259068]	uncertain significance	10	73505396	73505396	Human		name
329393482	CV2453382	single nucleotide variant	NM_001391956.1(USP54):c.3536G>A (p.Gly1179Asp)	not specified [RCV004266999]	uncertain significance	10	73516890	73516890	Human		name
329385096	CV2454692	single nucleotide variant	NM_001391956.1(USP54):c.3037C>T (p.Pro1013Ser)	not specified [RCV004269932]	uncertain significance	10	73517389	73517389	Human		name
329392727	CV2471425	single nucleotide variant	NM_001391956.1(USP54):c.4390C>G (p.Pro1464Ala)	not specified [RCV004280426]	uncertain significance	10	73500760	73500760	Human		name
401724883	CV2693454	single nucleotide variant	NM_001391956.1(USP54):c.4732G>A (p.Gly1578Ser)	not specified [RCV004295401]	uncertain significance	10	73498952	73498952	Human		name
401731422	CV2701358	single nucleotide variant	NM_001391956.1(USP54):c.4717C>T (p.Pro1573Ser)	not specified [RCV004311730]	uncertain significance	10	73498967	73498967	Human		name
401770422	CV2715178	single nucleotide variant	NM_001391956.1(USP54):c.4993C>G (p.Leu1665Val)	not specified [RCV004324533]	uncertain significance	10	73498691	73498691	Human		name
401782065	CV2719159	single nucleotide variant	NM_001391956.1(USP54):c.4546A>G (p.Thr1516Ala)	not specified [RCV004324823]	uncertain significance	10	73499138	73499138	Human		name
401887414	CV2771924	single nucleotide variant	NM_001371395.1(USP53):c.3191G>T (p.Ser1064Ile)	Inborn genetic diseases [RCV003352374]	uncertain significance	4	119293180	119293180	Human	1	name
405801071	CV3338429	single nucleotide variant	NM_001391956.1(USP54):c.3464T>C (p.Leu1155Ser)	not specified [RCV004477628]	uncertain significance	10	73516962	73516962	Human		name
405801073	CV3338430	single nucleotide variant	NM_001391956.1(USP54):c.3593C>A (p.Ser1198Tyr)	not specified [RCV004477629]	uncertain significance	10	73516833	73516833	Human		name
405801081	CV3338434	single nucleotide variant	NM_001391956.1(USP54):c.4042A>G (p.Ser1348Gly)	not specified [RCV004477633]	uncertain significance	10	73516384	73516384	Human		name
405801083	CV3338435	single nucleotide variant	NM_001391956.1(USP54):c.4084T>A (p.Ser1362Thr)	not specified [RCV004477634]	uncertain significance	10	73505394	73505394	Human		name
405801085	CV3338436	single nucleotide variant	NM_001391956.1(USP54):c.4087G>C (p.Ala1363Pro)	not specified [RCV004477635]	uncertain significance	10	73505391	73505391	Human		name
405801087	CV3338437	single nucleotide variant	NM_001391956.1(USP54):c.4213G>A (p.Glu1405Lys)	not specified [RCV004477636]	uncertain significance	10	73504948	73504948	Human		name
405801091	CV3338439	single nucleotide variant	NM_001391956.1(USP54):c.4292C>T (p.Pro1431Leu)	not specified [RCV004477638]	uncertain significance	10	73504869	73504869	Human		name
405801093	CV3338440	single nucleotide variant	NM_001391956.1(USP54):c.4731G>T (p.Lys1577Asn)	not specified [RCV004477639]	uncertain significance	10	73498953	73498953	Human		name
405801095	CV3338441	single nucleotide variant	NM_001391956.1(USP54):c.4831C>A (p.His1611Asn)	not specified [RCV004477640]	uncertain significance	10	73498853	73498853	Human		name
407529036	CV3487715	single nucleotide variant	NM_001371395.1(USP53):c.3100T>G (p.Ser1034Ala)	Inborn genetic diseases [RCV004680675]	uncertain significance	4	119293089	119293089	Human	1	name
407528968	CV3487721	single nucleotide variant	NM_001391956.1(USP54):c.4345G>A (p.Gly1449Arg)	not specified [RCV004680680]	uncertain significance	10	73500805	73500805	Human		name
407528972	CV3487723	single nucleotide variant	NM_001391956.1(USP54):c.4876T>C (p.Ser1626Pro)	not specified [RCV004680682]	uncertain significance	10	73498808	73498808	Human		name
407528973	CV3487724	single nucleotide variant	NM_001391956.1(USP54):c.3422G>A (p.Gly1141Asp)	not specified [RCV004680683]	uncertain significance	10	73517004	73517004	Human		name
407528976	CV3487725	single nucleotide variant	NM_001391956.1(USP54):c.3436G>A (p.Asp1146Asn)	not specified [RCV004680684]	uncertain significance	10	73516990	73516990	Human		name
407464666	CV3487726	single nucleotide variant	NM_001391956.1(USP54):c.4409G>A (p.Gly1470Asp)	not specified [RCV004688564]	uncertain significance	10	73500741	73500741	Human		name
407464671	CV3487731	single nucleotide variant	NM_001391956.1(USP54):c.3341G>T (p.Ser1114Ile)	not specified [RCV004688565]	uncertain significance	10	73517085	73517085	Human		name
407528992	CV3487735	single nucleotide variant	NM_001391956.1(USP54):c.4309T>A (p.Phe1437Ile)	not specified [RCV004680692]	uncertain significance	10	73504852	73504852	Human		name
407528994	CV3487736	single nucleotide variant	NM_001391956.1(USP54):c.3046G>C (p.Glu1016Gln)	not specified [RCV004680693]	uncertain significance	10	73517380	73517380	Human		name
407464675	CV3487737	single nucleotide variant	NM_001391956.1(USP54):c.3915T>A (p.His1305Gln)	not specified [RCV004688566]	uncertain significance	10	73516511	73516511	Human		name
407528996	CV3487738	single nucleotide variant	NM_001391956.1(USP54):c.3107C>T (p.Ser1036Phe)	not specified [RCV004680694]	uncertain significance	10	73517319	73517319	Human		name
597642566	CV3623243	single nucleotide variant	NM_001371395.1(USP53):c.3045T>G (p.Asp1015Glu)	Inborn genetic diseases [RCV004972009]	uncertain significance	4	119293034	119293034	Human	1	name
597696980	CV3623248	single nucleotide variant	NM_001391956.1(USP54):c.4238G>A (p.Arg1413His)	not specified [RCV004885216]	uncertain significance	10	73504923	73504923	Human		name
597799124	CV3623249	single nucleotide variant	NM_001391956.1(USP54):c.4210G>A (p.Asp1404Asn)	not specified [RCV004879544]	uncertain significance	10	73504951	73504951	Human		name
597696988	CV3623251	single nucleotide variant	NM_001391956.1(USP54):c.3817C>A (p.Gln1273Lys)	not specified [RCV004885217]	uncertain significance	10	73516609	73516609	Human		name
597799128	CV3623252	single nucleotide variant	NM_001391956.1(USP54):c.3110C>T (p.Pro1037Leu)	not specified [RCV004879546]	likely benign	10	73517316	73517316	Human		name
597696997	CV3623255	single nucleotide variant	NM_001391956.1(USP54):c.4555G>A (p.Gly1519Arg)	not specified [RCV004885218]	uncertain significance	10	73499129	73499129	Human		name
597799134	CV3623258	single nucleotide variant	NM_001391956.1(USP54):c.4355G>A (p.Cys1452Tyr)	not specified [RCV004879549]	uncertain significance	10	73500795	73500795	Human		name
597799136	CV3623259	single nucleotide variant	NM_001391956.1(USP54):c.3190C>G (p.Pro1064Ala)	not specified [RCV004879550]	uncertain significance	10	73517236	73517236	Human		name
597697034	CV3623262	single nucleotide variant	NM_001391956.1(USP54):c.4979G>A (p.Gly1660Glu)	not specified [RCV004885222]	likely benign	10	73498705	73498705	Human		name
597799252	CV3623263	single nucleotide variant	NM_001391956.1(USP54):c.3577G>A (p.Gly1193Arg)	not specified [RCV004879552]	likely benign	10	73516849	73516849	Human		name
597697044	CV3623264	single nucleotide variant	NM_001391956.1(USP54):c.4603C>T (p.Arg1535Cys)	not specified [RCV004885223]	uncertain significance	10	73499081	73499081	Human		name
598239010	CV3932968	single nucleotide variant	NM_001371395.1(USP53):c.3073A>G (p.Ile1025Val)	Inborn genetic diseases [RCV005296515]	uncertain significance	4	119293062	119293062	Human	1	name
598204580	CV3932971	single nucleotide variant	NM_001391956.1(USP54):c.3169C>T (p.Pro1057Ser)	not specified [RCV005290716]	uncertain significance	10	73517257	73517257	Human		name
598239038	CV3932974	single nucleotide variant	NM_001391956.1(USP54):c.3442A>G (p.Thr1148Ala)	not specified [RCV005296520]	uncertain significance	10	73516984	73516984	Human		name
598239048	CV3932976	single nucleotide variant	NM_001391956.1(USP54):c.4121C>T (p.Ala1374Val)	not specified [RCV005296522]	uncertain significance	10	73505357	73505357	Human		name
598239054	CV3932978	single nucleotide variant	NM_001391956.1(USP54):c.4216C>G (p.Gln1406Glu)	not specified [RCV005296523]	uncertain significance	10	73504945	73504945	Human		name
598204592	CV3932979	single nucleotide variant	NM_001391956.1(USP54):c.4143T>A (p.His1381Gln)	not specified [RCV005290718]	uncertain significance	10	73505335	73505335	Human		name
598204605	CV3932981	single nucleotide variant	NM_001391956.1(USP54):c.4656T>G (p.Ile1552Met)	not specified [RCV005290720]	uncertain significance	10	73499028	73499028	Human		name
598204612	CV3932982	single nucleotide variant	NM_001391956.1(USP54):c.4208A>C (p.Glu1403Ala)	not specified [RCV005290721]	uncertain significance	10	73504953	73504953	Human		name
598239071	CV3932985	single nucleotide variant	NM_001391956.1(USP54):c.3826C>T (p.His1276Tyr)	not specified [RCV005296526]	uncertain significance	10	73516600	73516600	Human		name
15040191	CV682413	microsatellite	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	Cholestasis [RCV000856557]	pathogenic	4	119261723	119261724	Human		name
401856553	CV2752505	microsatellite	NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003340843]	likely pathogenic	4	119269692	119269696	Human		name

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

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

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

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

Create Name:

Description:

Send us a Message