Usp53 Variant Search Result - Rat Genome Database

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188 records found for search term Usp53

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
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
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
156213918	CV2127886	duplication	NM_001371395.1(USP53):c.21dup (p.Arg8fs)	not provided [RCV002957861]	pathogenic	4	119239779	119239780	Human		name
402497182	CV3179301	duplication	NM_001371395.1(USP53):c.372+14_372+16dup	not provided [RCV003877568]	likely benign	4	119248895	119248896	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
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
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
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
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
597845281	CV3761542	single nucleotide variant	NM_001371395.1(USP53):c.675T>C (p.Pro225=)	not provided [RCV005087142]	uncertain significance	4	119259925	119259925	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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