Vps33b Variant Search Result - Rat Genome Database

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536 records found for search term Vps33b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10049526	CV190560	single nucleotide variant	NM_018668.5(VPS33B):c.-8C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000297199]\|not provided [RCV001554928]\|not specified [RCV000173466]	benign\|likely benign	15	91022257	91022257	Human	1	name
28884817	CV874333	single nucleotide variant	NM_018668.5(VPS33B):c.-7C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118852]\|not provided [RCV004726890]	benign\|likely benign	15	91022256	91022256	Human	1	name
28879152	CV874326	single nucleotide variant	NM_018668.5(VPS33B):c.*10C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117127]	uncertain significance	15	90998965	90998965	Human	1	name
156217932	CV1963440	single nucleotide variant	NM_018668.5(VPS33B):c.97-7C>T	not provided [RCV002575410]	likely benign	15	91017892	91017892	Human		name
405043911	CV3007576	single nucleotide variant	NM_018668.5(VPS33B):c.96+8C>T	not provided [RCV003696382]	likely benign	15	91022146	91022146	Human		name
11664299	CV323584	single nucleotide variant	NM_018668.5(VPS33B):c.*262T>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000404332]	uncertain significance	15	90998713	90998713	Human	1	name
11608407	CV323594	single nucleotide variant	NM_018668.5(VPS33B):c.-131G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000354450]\|not provided [RCV004693254]	uncertain significance	15	91022380	91022380	Human	1	name
11606604	CV323596	single nucleotide variant	NM_018668.5(VPS33B):c.-269T>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000333257]	likely benign\|uncertain significance	15	91022518	91022518	Human	1	name
11600533	CV323600	single nucleotide variant	NM_018668.5(VPS33B):c.-299T>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000274529]	uncertain significance	15	91022548	91022548	Human	1	name
11623003	CV333322	single nucleotide variant	NM_018668.5(VPS33B):c.-271A>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000366845]	benign\|uncertain significance	15	91022520	91022520	Human	1	name
11662274	CV333327	single nucleotide variant	NM_018668.5(VPS33B):c.-335C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000384653]	uncertain significance	15	91022584	91022584	Human	1	name
11621394	CV340094	single nucleotide variant	NM_018668.5(VPS33B):c.*125C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000347991]\|not provided [RCV004693253]	uncertain significance	15	90998850	90998850	Human	1	name
11653580	CV341541	single nucleotide variant	NM_018668.5(VPS33B):c.*155A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000311705]	uncertain significance	15	90998820	90998820	Human	1	name
11647364	CV341552	single nucleotide variant	NM_018668.5(VPS33B):c.-137A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000275841]	uncertain significance	15	91022386	91022386	Human	1	name
11619576	CV341554	single nucleotide variant	NM_018668.5(VPS33B):c.-325T>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000327280]\|not provided [RCV001698762]	benign	15	91022574	91022574	Human	1	name
13832526	CV583021	single nucleotide variant	NM_018668.5(VPS33B):c.96+1G>T	not provided [RCV000723216]	likely pathogenic\|uncertain significance	15	91022153	91022153	Human		name
28875011	CV874324	single nucleotide variant	NM_018668.5(VPS33B):c.*261T>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001115702]	uncertain significance	15	90998714	90998714	Human	1	name
28879148	CV874325	single nucleotide variant	NM_018668.5(VPS33B):c.*113G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117126]	uncertain significance	15	90998862	90998862	Human	1	name
28884819	CV874334	single nucleotide variant	NM_018668.5(VPS33B):c.-120G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118853]	uncertain significance	15	91022369	91022369	Human	1	name
28891014	CV874335	single nucleotide variant	NM_018668.5(VPS33B):c.-275C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001120812]	uncertain significance	15	91022524	91022524	Human	1	name
28875006	CV876593	single nucleotide variant	NM_018668.4(VPS33B):c.*346A>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001115701]	uncertain significance	15	90998629	90998629	Human	1	name
150450273	CV1260938	single nucleotide variant	NM_018668.5(VPS33B):c.97-67G>A	not provided [RCV001680607]	benign	15	91017952	91017952	Human		name
151351362	CV1323511	single nucleotide variant	NM_018668.5(VPS33B):c.498+4A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001806367]\|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive [RCV004812415]	likely pathogenic	15	91007866	91007866	Human	2	name
151840229	CV1369112	single nucleotide variant	NM_018668.5(VPS33B):c.701-1G>A	not provided [RCV002015241]	likely pathogenic	15	91006730	91006730	Human		name
151744690	CV1406910	single nucleotide variant	NM_018668.5(VPS33B):c.177+3A>G	not provided [RCV002006179]	uncertain significance	15	91017802	91017802	Human		name
152166953	CV1524508	single nucleotide variant	NM_018668.5(VPS33B):c.940-9T>C	not provided [RCV002142031]	likely benign	15	91005793	91005793	Human		name
152120685	CV1547430	single nucleotide variant	NM_018668.5(VPS33B):c.403+7G>C	not provided [RCV002081508]	likely benign	15	91009794	91009794	Human		name
152981929	CV1678872	single nucleotide variant	NM_018668.5(VPS33B):c.604-3C>A	VPS33B-related disorder [RCV004731250]\|not provided [RCV002248262]	uncertain significance	15	91007049	91007049	Human		name , trait , alternate_id
153349313	CV1694201	single nucleotide variant	NM_018668.5(VPS33B):c.240-1G>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008511]\|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive [RCV002275707]\|not provided [RCV005095995]	pathogenic\|likely pathogenic	15	91014434	91014434	Human	2	name
8556692	CV17243	single nucleotide variant	NM_018668.5(VPS33B):c.700+1G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000002288]	pathogenic	15	91006949	91006949	Human	1	name
156441987	CV1941649	single nucleotide variant	NM_018668.5(VPS33B):c.778+2T>G	not provided [RCV003112323]	pathogenic	15	91006650	91006650	Human		name
156400893	CV1981993	single nucleotide variant	NM_018668.5(VPS33B):c.358-7C>T	not provided [RCV002605592]	likely benign	15	91009853	91009853	Human		name
405215022	CV2925265	single nucleotide variant	NM_018668.5(VPS33B):c.498+7G>T	not provided [RCV003567647]	likely benign	15	91007863	91007863	Human		name
405141730	CV2958690	single nucleotide variant	NM_018668.5(VPS33B):c.939+9C>T	not provided [RCV003673286]	likely benign	15	91005964	91005964	Human		name
405169806	CV3122433	single nucleotide variant	NM_018668.5(VPS33B):c.97-16A>G	not provided [RCV003819022]	likely benign	15	91017901	91017901	Human		name
405067902	CV3140032	single nucleotide variant	NM_018668.5(VPS33B):c.403+3G>A	not provided [RCV003833187]	uncertain significance	15	91009798	91009798	Human		name
405198853	CV3147107	single nucleotide variant	NM_018668.5(VPS33B):c.853-5C>T	not provided [RCV003844267]	likely benign	15	91006064	91006064	Human		name
405245921	CV3162166	single nucleotide variant	NM_018668.5(VPS33B):c.97-20A>G	not provided [RCV003868685]	likely benign	15	91017905	91017905	Human		name
405258599	CV3203936	single nucleotide variant	NM_018668.5(VPS33B):c.852+9G>A	VPS33B-related disorder [RCV003942093]	likely benign	15	91006363	91006363	Human		name , trait , alternate_id
11620991	CV340110	single nucleotide variant	NM_018668.5(VPS33B):c.403+2T>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000343206]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010279]	pathogenic	15	91009799	91009799	Human	1	name
597648221	CV3551577	single nucleotide variant	NM_018668.5(VPS33B):c.290-1G>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV004819954]	likely pathogenic	15	91013872	91013872	Human	1	name
597756639	CV3711108	single nucleotide variant	NM_018668.5(VPS33B):c.852+6G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017441]	uncertain significance	15	91006366	91006366	Human	1	name
597733973	CV3711110	single nucleotide variant	NM_018668.5(VPS33B):c.778+1G>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012228]	likely pathogenic	15	91006651	91006651	Human	1	name
597756685	CV3711129	single nucleotide variant	NM_018668.5(VPS33B):c.290-1G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017449]	likely pathogenic	15	91013872	91013872	Human	1	name
597756696	CV3711133	single nucleotide variant	NM_018668.5(VPS33B):c.177+1G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017451]	likely pathogenic	15	91017804	91017804	Human	1	name
597830489	CV3735333	single nucleotide variant	NM_018668.5(VPS33B):c.853-1G>C	Cholestasis, progressive familial intrahepatic, 12 [RCV005055250]	likely pathogenic	15	91006060	91006060	Human	1	name
597851479	CV3737537	single nucleotide variant	NM_018668.5(VPS33B):c.96+14T>C	not provided [RCV005066310]	likely benign	15	91022140	91022140	Human		name
597836884	CV3761404	single nucleotide variant	NM_018668.5(VPS33B):c.177+9C>A	not provided [RCV005085775]	likely benign	15	91017796	91017796	Human		name
597935008	CV3793682	single nucleotide variant	NM_018668.5(VPS33B):c.940-8T>C	not provided [RCV005132338]	likely benign	15	91005792	91005792	Human		name
597854713	CV3825089	single nucleotide variant	NM_018668.5(VPS33B):c.97-12T>C	not provided [RCV005173937]	likely benign	15	91017897	91017897	Human		name
13515437	CV491584	single nucleotide variant	NM_018668.5(VPS33B):c.239+5G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002285164]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010578]\|Inborn genetic diseases [RCV004965594]\|not provided [RCV000594279]	pathogenic\|likely pathogenic	15	91016958	91016958	Human	2	name
13516068	CV493464	single nucleotide variant	NM_018668.5(VPS33B):c.240-9C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117219]\|VPS33B-related disorder [RCV003962727]\|not provided [RCV000595055]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91014442	91014442	Human	1	name , trait , alternate_id
13834695	CV585944	single nucleotide variant	NM_018668.5(VPS33B):c.177+5T>A	VPS33B-related disorder [RCV003980372]\|not provided [RCV000730279]	likely benign\|uncertain significance	15	91017800	91017800	Human		name , trait , alternate_id
13835167	CV586424	single nucleotide variant	NM_018668.5(VPS33B):c.940-2A>G	not provided [RCV000730889]	pathogenic	15	91005786	91005786	Human		name
28879471	CV876596	single nucleotide variant	NM_018668.5(VPS33B):c.499-3C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117217]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012571]\|not provided [RCV002558159]	uncertain significance	15	91007576	91007576	Human	1	name
150340172	CV1168343	single nucleotide variant	NM_018668.5(VPS33B):c.701-45G>A	not provided [RCV001535069]	likely benign	15	91006774	91006774	Human		name
150330968	CV1169662	single nucleotide variant	NM_018668.5(VPS33B):c.939+32T>C	not provided [RCV001536248]	likely benign	15	91005941	91005941	Human		name
150424001	CV1185051	single nucleotide variant	NM_018668.5(VPS33B):c.240-89A>C	not provided [RCV001556073]	likely benign	15	91014522	91014522	Human		name
150426873	CV1188313	single nucleotide variant	NM_018668.5(VPS33B):c.357+48G>A	not provided [RCV001560156]	likely benign	15	91013756	91013756	Human		name
150412023	CV1191739	single nucleotide variant	NM_018668.5(VPS33B):c.178-99C>A	not provided [RCV001566800]	likely benign	15	91017123	91017123	Human		name
150406050	CV1191740	single nucleotide variant	NM_018668.5(VPS33B):c.96+233G>A	not provided [RCV001564564]	likely benign	15	91021921	91021921	Human		name
150448293	CV1202012	single nucleotide variant	NM_018668.5(VPS33B):c.289+41C>T	not provided [RCV001584882]	likely benign	15	91014343	91014343	Human		name
150434026	CV1204245	single nucleotide variant	NM_018668.5(VPS33B):c.357+72A>G	not provided [RCV001581994]	likely benign	15	91013732	91013732	Human		name
150479836	CV1207901	single nucleotide variant	NM_018668.5(VPS33B):c.700+83C>G	not provided [RCV001590177]	likely benign	15	91006867	91006867	Human		name
150484105	CV1222421	single nucleotide variant	NM_018668.5(VPS33B):c.357+97C>A	not provided [RCV001617424]	benign	15	91013707	91013707	Human		name
150516444	CV1227067	single nucleotide variant	NM_018668.5(VPS33B):c.778+60C>G	not provided [RCV001639165]	benign	15	91006592	91006592	Human		name
150494867	CV1241474	single nucleotide variant	NM_018668.5(VPS33B):c.239+60C>T	not provided [RCV001655481]	benign	15	91016903	91016903	Human		name
150505948	CV1242093	single nucleotide variant	NM_018668.5(VPS33B):c.290-85G>A	not provided [RCV001658446]	benign	15	91013956	91013956	Human		name
150470722	CV1258646	single nucleotide variant	NM_018668.5(VPS33B):c.603+35C>T	not provided [RCV001684191]	benign	15	91007434	91007434	Human		name
150468825	CV1259555	single nucleotide variant	NM_018668.5(VPS33B):c.403+72C>T	not provided [RCV001683855]	benign	15	91009729	91009729	Human		name
152154466	CV1667910	single nucleotide variant	NM_018668.5(VPS33B):c.96+146G>A	not provided [RCV002221803]	likely benign	15	91022008	91022008	Human		name
152982285	CV1677230	single nucleotide variant	NM_018668.5(VPS33B):c.1031-8A>G	not specified [RCV002248935]	uncertain significance	15	91005462	91005462	Human		name
153000713	CV1685599	single nucleotide variant	NM_018668.5(VPS33B):c.1658-1G>T	not provided [RCV002260420]	not provided	15	90999794	90999794	Human		name
156067999	CV1952459	single nucleotide variant	NM_018668.5(VPS33B):c.779-17T>A	not provided [RCV002569517]	benign	15	91006462	91006462	Human		name
156240649	CV1952981	single nucleotide variant	NM_018668.5(VPS33B):c.178-17T>C	not provided [RCV002576206]	likely benign	15	91017041	91017041	Human		name
156384661	CV1961126	single nucleotide variant	NM_018668.5(VPS33B):c.700+16C>T	not provided [RCV002583399]	benign	15	91006934	91006934	Human		name
156289162	CV1961363	deletion	NM_018668.5(VPS33B):c.240-16del	not provided [RCV002577759]	benign	15	91014449	91014449	Human		name
156355128	CV1962333	single nucleotide variant	NM_018668.5(VPS33B):c.1657+4T>G	not provided [RCV002581337]	uncertain significance	15	90999896	90999896	Human		name
156125337	CV1962707	single nucleotide variant	NM_018668.5(VPS33B):c.289+18C>G	not provided [RCV002572022]	benign	15	91014366	91014366	Human		name
156417128	CV1970218	single nucleotide variant	NM_018668.5(VPS33B):c.404-16C>T	not provided [RCV002590039]	likely benign	15	91007980	91007980	Human		name
156348363	CV1970683	single nucleotide variant	NM_018668.5(VPS33B):c.700+17G>A	not provided [RCV002601644]\|not specified [RCV003994447]	likely benign	15	91006933	91006933	Human		name
156332031	CV1987270	single nucleotide variant	NM_018668.5(VPS33B):c.404-20G>A	not provided [RCV002630984]	likely benign	15	91007984	91007984	Human		name
156299153	CV2001885	single nucleotide variant	NM_018668.5(VPS33B):c.1226-6T>G	not provided [RCV002671081]	likely benign	15	91003137	91003137	Human		name
156379997	CV2060710	single nucleotide variant	NM_018668.5(VPS33B):c.853-20T>C	not provided [RCV002815014]	likely benign	15	91006079	91006079	Human		name
156214943	CV2076635	single nucleotide variant	NM_018668.5(VPS33B):c.240-11C>T	not provided [RCV002875636]	likely benign	15	91014444	91014444	Human		name
155901854	CV2151591	single nucleotide variant	NM_018668.5(VPS33B):c.940-15G>A	not provided [RCV003011680]	likely benign	15	91005799	91005799	Human		name
156117934	CV2209207	single nucleotide variant	NM_018668.5(VPS33B):c.1106-2A>C	Inborn genetic diseases [RCV002707640]	likely pathogenic	15	91005121	91005121	Human	1	name
11548743	CV255435	single nucleotide variant	NM_018668.5(VPS33B):c.1105+9C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000261543]\|not provided [RCV001598641]\|not specified [RCV000249496]	benign	15	91005371	91005371	Human	1	name
11550960	CV255436	single nucleotide variant	NM_018668.5(VPS33B):c.852+13G>A	not provided [RCV002519937]\|not specified [RCV000252427]	benign\|likely benign	15	91006359	91006359	Human		name
11643540	CV274126	single nucleotide variant	NM_018668.5(VPS33B):c.1658-7C>T	VPS33B-related disorder [RCV003920162]\|not provided [RCV000395742]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	90999800	90999800	Human		name , trait , alternate_id
402479396	CV2854588	single nucleotide variant	NM_018668.5(VPS33B):c.239+20T>C	not provided [RCV003543765]	likely benign	15	91016943	91016943	Human		name
405015509	CV2859522	deletion	NM_018668.5(VPS33B):c.289+17del	not provided [RCV003577114]	likely benign	15	91014367	91014367	Human		name
405095549	CV2874912	single nucleotide variant	NM_018668.5(VPS33B):c.178-10C>T	not provided [RCV003550233]	likely benign	15	91017034	91017034	Human		name
405148350	CV2881884	single nucleotide variant	NM_018668.5(VPS33B):c.853-10G>T	not provided [RCV003561541]	likely benign	15	91006069	91006069	Human		name
405076707	CV2948662	single nucleotide variant	NM_018668.5(VPS33B):c.498+15C>T	not provided [RCV003664303]	likely benign	15	91007855	91007855	Human		name
405150193	CV2956960	single nucleotide variant	NM_018668.5(VPS33B):c.1774+9G>A	not provided [RCV003670000]	likely benign	15	90999668	90999668	Human		name
405132574	CV2959048	single nucleotide variant	NM_018668.5(VPS33B):c.700+10G>A	not provided [RCV003668400]	likely benign	15	91006940	91006940	Human		name
405242526	CV2967353	single nucleotide variant	NM_018668.5(VPS33B):c.1273-6C>T	not provided [RCV003684375]	likely benign	15	91002188	91002188	Human		name
405243809	CV3074871	single nucleotide variant	NM_018668.5(VPS33B):c.1479+8G>T	not provided [RCV003737778]	likely benign	15	91001381	91001381	Human		name
405113013	CV3118697	duplication	NM_018668.5(VPS33B):c.240-16dup	not provided [RCV003813925]	benign	15	91014448	91014449	Human		name
405189103	CV3121369	single nucleotide variant	NM_018668.5(VPS33B):c.778+10A>G	not provided [RCV003820825]\|not specified [RCV004587568]	likely benign	15	91006642	91006642	Human		name
405183567	CV3124081	single nucleotide variant	NM_018668.5(VPS33B):c.498+16C>T	not provided [RCV003820277]\|not specified [RCV003994592]	likely benign	15	91007854	91007854	Human		name
404993853	CV3132522	single nucleotide variant	NM_018668.5(VPS33B):c.700+15G>C	not provided [RCV003827461]	likely benign	15	91006935	91006935	Human		name
405108035	CV3136536	single nucleotide variant	NM_018668.5(VPS33B):c.239+16A>T	not provided [RCV003835690]	likely benign	15	91016947	91016947	Human		name
405108658	CV3136706	single nucleotide variant	NM_018668.5(VPS33B):c.498+12G>A	not provided [RCV003835860]	likely benign	15	91007858	91007858	Human		name
405211619	CV3146374	single nucleotide variant	NM_018668.5(VPS33B):c.1105+9C>G	not provided [RCV003845905]	likely benign	15	91005371	91005371	Human		name
405240856	CV3176822	single nucleotide variant	NM_018668.5(VPS33B):c.779-11T>C	not provided [RCV003867260]	likely benign	15	91006456	91006456	Human		name
405259288	CV3194698	single nucleotide variant	NM_018668.5(VPS33B):c.499-17T>C	VPS33B-related disorder [RCV003894090]	likely benign	15	91007590	91007590	Human		name , trait , alternate_id
11664621	CV333316	single nucleotide variant	NM_018668.5(VPS33B):c.404-14C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000407360]	uncertain significance	15	91007978	91007978	Human	1	name
11619006	CV340098	single nucleotide variant	NM_018668.5(VPS33B):c.1170+5G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000320186]\|VPS33B-related disorder [RCV003922330]\|not provided [RCV000915695]\|not specified [RCV003401332]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91005050	91005050	Human	1	name , trait , alternate_id
408383440	CV3503957	single nucleotide variant	NM_018668.5(VPS33B):c.1480-1G>A	VPS33B-related disorder [RCV004730633]	likely pathogenic	15	91000592	91000592	Human		name , trait , alternate_id
408366101	CV3515540	duplication	NM_018668.5(VPS33B):c.1480-4dup	VPS33B-related disorder [RCV004755590]	likely benign	15	91000594	91000595	Human		name , trait , alternate_id
597733943	CV3711100	single nucleotide variant	NM_018668.5(VPS33B):c.1030+1G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012223]\|not provided [RCV005112603]	likely pathogenic	15	91005693	91005693	Human	1	name
597756634	CV3711107	single nucleotide variant	NM_018668.5(VPS33B):c.853-12C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017440]	uncertain significance	15	91006071	91006071	Human	1	name
597756651	CV3711112	single nucleotide variant	NM_018668.5(VPS33B):c.701-18C>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017443]	uncertain significance	15	91006747	91006747	Human	1	name
597733863	CV3714993	single nucleotide variant	NM_018668.5(VPS33B):c.1774+3A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012210]	uncertain significance	15	90999674	90999674	Human	1	name
597733912	CV3715005	single nucleotide variant	NM_018668.5(VPS33B):c.1480-1G>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012218]	likely pathogenic	15	91000592	91000592	Human	1	name
597756567	CV3715006	single nucleotide variant	NM_018668.5(VPS33B):c.1479+3A>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017428]	uncertain significance	15	91001386	91001386	Human	1	name
597885467	CV3741683	single nucleotide variant	NM_018668.5(VPS33B):c.239+13G>A	not provided [RCV005070402]	likely benign	15	91016950	91016950	Human		name
597959766	CV3746092	single nucleotide variant	NM_018668.5(VPS33B):c.177+20G>A	not provided [RCV005081340]	likely benign	15	91017785	91017785	Human		name
597941448	CV3769189	single nucleotide variant	NM_018668.5(VPS33B):c.403+16T>C	not provided [RCV005118684]	likely benign	15	91009785	91009785	Human		name
597874427	CV3775490	single nucleotide variant	NM_018668.5(VPS33B):c.239+17G>A	not provided [RCV005123220]	likely benign	15	91016946	91016946	Human		name
597962404	CV3809165	single nucleotide variant	NM_018668.5(VPS33B):c.404-10G>A	not provided [RCV005164067]	likely benign	15	91007974	91007974	Human		name
597959786	CV3811493	single nucleotide variant	NM_018668.5(VPS33B):c.403+17G>C	not provided [RCV005163340]	likely benign	15	91009784	91009784	Human		name
597959484	CV3814976	single nucleotide variant	NM_018668.5(VPS33B):c.1226-3T>C	not provided [RCV005163102]	uncertain significance	15	91003134	91003134	Human		name
597860089	CV3817230	single nucleotide variant	NM_018668.5(VPS33B):c.290-12T>C	not provided [RCV005146610]	likely benign	15	91013883	91013883	Human		name
597974255	CV3831182	single nucleotide variant	NM_018668.5(VPS33B):c.779-19T>C	not provided [RCV005168320]	likely benign	15	91006464	91006464	Human		name
13519910	CV491745	single nucleotide variant	NM_018668.5(VPS33B):c.1479+1G>A	not provided [RCV000598236]	pathogenic	15	91001388	91001388	Human		name
13522145	CV493788	single nucleotide variant	NM_018668.5(VPS33B):c.1170+4C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010585]\|not provided [RCV000591363]	uncertain significance	15	91005051	91005051	Human	1	name
13831575	CV582073	single nucleotide variant	NM_018668.5(VPS33B):c.1170+2T>C	not provided [RCV000722255]	uncertain significance	15	91005053	91005053	Human		name
15169181	CV744791	single nucleotide variant	NM_018668.5(VPS33B):c.1775-7T>C	not provided [RCV000896385]	likely benign	15	90999061	90999061	Human		name
15171049	CV776113	single nucleotide variant	NM_018668.5(VPS33B):c.1171-6A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118766]\|VPS33B-related disorder [RCV003942936]\|not provided [RCV000936392]	likely benign\|uncertain significance	15	91004937	91004937	Human	1	name , trait , alternate_id
28875181	CV876595	single nucleotide variant	NM_018668.5(VPS33B):c.604-14T>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001115786]\|not provided [RCV002558146]	benign\|likely benign	15	91007060	91007060	Human	1	name
8573671	CV94427	single nucleotide variant	NM_018668.5(VPS33B):c.1225+5G>C	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000074446]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005007987]\|Inborn genetic diseases [RCV000624476]\|VPS33B-related disorder [RCV003905035]\|not provided [RCV000599157]	pathogenic\|likely pathogenic\|uncertain significance	15	91004872	91004872	Human	4	name , trait , alternate_id
150426175	CV1185050	single nucleotide variant	NM_018668.5(VPS33B):c.604-173A>G	not provided [RCV001559010]	likely benign	15	91007219	91007219	Human		name
150418663	CV1195015	single nucleotide variant	NM_018668.5(VPS33B):c.290-193T>G	not provided [RCV001569322]	likely benign	15	91014064	91014064	Human		name
150416307	CV1198714	single nucleotide variant	NM_018668.5(VPS33B):c.1582-74C>G	not provided [RCV001575787]	likely benign	15	91000049	91000049	Human		name
150415810	CV1198715	single nucleotide variant	NM_018668.5(VPS33B):c.1581+82T>G	not provided [RCV001575562]	likely benign	15	91000408	91000408	Human		name
150489989	CV1208538	single nucleotide variant	NM_018668.5(VPS33B):c.1581+79T>G	not provided [RCV001592399]	likely benign	15	91000411	91000411	Human		name
150497261	CV1208726	single nucleotide variant	NM_018668.5(VPS33B):c.1272+81G>C	not provided [RCV001593942]	likely benign	15	91003004	91003004	Human		name
150500272	CV1212180	single nucleotide variant	NM_018668.5(VPS33B):c.239+115A>G	not provided [RCV001594534]	benign	15	91016848	91016848	Human		name
150502558	CV1212263	single nucleotide variant	NM_018668.5(VPS33B):c.498+147G>C	not provided [RCV001595136]	benign	15	91007723	91007723	Human		name
150434287	CV1215852	single nucleotide variant	NM_018668.5(VPS33B):c.1273-51A>G	not provided [RCV001609040]	benign	15	91002233	91002233	Human		name
150468052	CV1220119	single nucleotide variant	NM_018668.5(VPS33B):c.177+175C>G	not provided [RCV001614610]	benign	15	91017630	91017630	Human		name
150484835	CV1222578	single nucleotide variant	NM_018668.5(VPS33B):c.358-227G>A	not provided [RCV001617581]	benign	15	91010073	91010073	Human		name
150430407	CV1230864	single nucleotide variant	NM_018668.5(VPS33B):c.358-306C>G	not provided [RCV001641413]	benign	15	91010152	91010152	Human		name
150438164	CV1237984	deletion	NM_018668.5(VPS33B):c.289+164del	not provided [RCV001644482]	benign	15	91014220	91014220	Human		name
150507237	CV1244515	single nucleotide variant	NM_018668.5(VPS33B):c.1105+61C>T	not provided [RCV001658764]	likely benign	15	91005319	91005319	Human		name
150482546	CV1247472	single nucleotide variant	NM_018668.5(VPS33B):c.239+272T>C	not provided [RCV001673298]	benign	15	91016691	91016691	Human		name
150457995	CV1248867	single nucleotide variant	NM_018668.5(VPS33B):c.1405+69G>A	not provided [RCV001669043]	benign	15	91001981	91001981	Human		name
150437739	CV1249921	single nucleotide variant	NM_018668.5(VPS33B):c.404-266T>C	not provided [RCV001665835]	benign	15	91008230	91008230	Human		name
150487227	CV1251488	single nucleotide variant	NM_018668.5(VPS33B):c.498+117A>G	not provided [RCV001674159]	benign	15	91007753	91007753	Human		name
150487329	CV1262721	single nucleotide variant	NM_018668.5(VPS33B):c.178-113C>A	not provided [RCV001687119]	benign	15	91017137	91017137	Human		name
150474500	CV1263370	single nucleotide variant	NM_018668.5(VPS33B):c.290-118C>T	not provided [RCV001684893]	benign	15	91013989	91013989	Human		name
150475422	CV1263500	duplication	NM_018668.5(VPS33B):c.1479+62dup	not provided [RCV001685023]	benign	15	91001309	91001310	Human		name
150476044	CV1263588	deletion	NM_018668.5(VPS33B):c.1479+79del	not provided [RCV001685111]	benign	15	91001310	91001310	Human		name
150454288	CV1265977	duplication	NM_018668.5(VPS33B):c.289+142dup	not provided [RCV001692554]	benign	15	91014219	91014220	Human		name
150449941	CV1273701	duplication	NM_018668.5(VPS33B):c.1581+77dup	not provided [RCV001691801]	benign	15	91000400	91000401	Human		name
150444476	CV1278000	single nucleotide variant	NM_018668.5(VPS33B):c.1775-53G>A	not provided [RCV001707143]	benign	15	90999107	90999107	Human		name
150508417	CV1284276	single nucleotide variant	NM_018668.5(VPS33B):c.1105+35G>A	not provided [RCV001720384]	benign	15	91005345	91005345	Human		name
156406885	CV1963809	single nucleotide variant	NM_018668.5(VPS33B):c.1406-20G>C	not provided [RCV002586048]\|not specified [RCV005419467]	benign\|likely benign	15	91001482	91001482	Human		name
156380306	CV1968553	single nucleotide variant	NM_018668.5(VPS33B):c.1658-15G>T	not provided [RCV002603918]	likely benign	15	90999808	90999808	Human		name
155954584	CV2043938	single nucleotide variant	NM_018668.5(VPS33B):c.1031-11C>T	not provided [RCV002775953]	likely benign	15	91005465	91005465	Human		name
156016143	CV2044060	single nucleotide variant	NM_018668.5(VPS33B):c.1480-20G>A	not provided [RCV002795358]\|not specified [RCV004801242]	benign\|likely benign	15	91000611	91000611	Human		name
156244391	CV2105533	single nucleotide variant	NM_018668.5(VPS33B):c.1272+16T>C	not provided [RCV002933319]	likely benign	15	91003069	91003069	Human		name
156135188	CV2188051	single nucleotide variant	NM_018668.5(VPS33B):c.1226-11T>G	not provided [RCV003055978]	likely benign	15	91003142	91003142	Human		name
11549281	CV255430	single nucleotide variant	NM_018668.5(VPS33B):c.1658-36G>A	not specified [RCV000250206]	likely benign	15	90999829	90999829	Human		name
11545241	CV255433	single nucleotide variant	NM_018668.5(VPS33B):c.1405+36G>A	not provided [RCV001651227]\|not specified [RCV000244867]	benign\|likely benign	15	91002014	91002014	Human		name
405196894	CV2869733	single nucleotide variant	NM_018668.5(VPS33B):c.1479+18G>A	not provided [RCV003550935]	likely benign	15	91001371	91001371	Human		name
405208997	CV2910029	single nucleotide variant	NM_018668.5(VPS33B):c.1480-12T>A	not provided [RCV003566890]	likely benign	15	91000603	91000603	Human		name
405141542	CV2958668	single nucleotide variant	NM_018668.5(VPS33B):c.1405+10G>A	not provided [RCV003673271]	likely benign	15	91002040	91002040	Human		name
405131997	CV2959166	single nucleotide variant	NM_018668.5(VPS33B):c.1106-14C>G	not provided [RCV003668462]	likely benign	15	91005133	91005133	Human		name
405216049	CV2971982	single nucleotide variant	NM_018668.5(VPS33B):c.1225+10A>C	not provided [RCV003680036]	likely benign	15	91004867	91004867	Human		name
405021753	CV3139266	single nucleotide variant	NM_018668.5(VPS33B):c.1105+14C>A	not provided [RCV003829909]	likely benign	15	91005366	91005366	Human		name
405074793	CV3140696	single nucleotide variant	NM_018668.5(VPS33B):c.1170+19G>A	not provided [RCV003833659]	likely benign	15	91005036	91005036	Human		name
405148075	CV3141923	single nucleotide variant	NM_018668.5(VPS33B):c.1406-13A>G	not provided [RCV003839845]	likely benign	15	91001475	91001475	Human		name
405233696	CV3157996	single nucleotide variant	NM_018668.5(VPS33B):c.1406-14G>C	not provided [RCV003865752]	likely benign	15	91001476	91001476	Human		name
405155517	CV3159350	single nucleotide variant	NM_018668.5(VPS33B):c.1405+16A>G	not provided [RCV003856615]	likely benign	15	91002034	91002034	Human		name
405240927	CV3176756	single nucleotide variant	NM_018668.5(VPS33B):c.1171-16C>A	not provided [RCV003867194]	likely benign	15	91004947	91004947	Human		name
404984896	CV3183704	single nucleotide variant	NM_018668.5(VPS33B):c.1171-18T>G	not provided [RCV003880981]	likely benign	15	91004949	91004949	Human		name
597733937	CV3711099	single nucleotide variant	NM_018668.5(VPS33B):c.1031-10C>T	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012222]	uncertain significance	15	91005464	91005464	Human	1	name
597955866	CV3754492	single nucleotide variant	NM_018668.5(VPS33B):c.1774+14G>A	not provided [RCV005080342]	likely benign	15	90999663	90999663	Human		name
597899773	CV3782931	single nucleotide variant	NM_018668.5(VPS33B):c.1657+19G>T	not provided [RCV005126951]	likely benign	15	90999881	90999881	Human		name
598123888	CV3884997	single nucleotide variant	NM_018668.5(VPS33B):c.1480-11T>C	not specified [RCV005238606]	likely benign	15	91000602	91000602	Human		name
13515169	CV492181	single nucleotide variant	NM_018668.5(VPS33B):c.1105+10G>A	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001120711]\|VPS33B-related disorder [RCV003980098]\|not provided [RCV000593946]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91005370	91005370	Human	1	name , trait , alternate_id
28879153	CV876594	single nucleotide variant	NM_018668.5(VPS33B):c.1775-14A>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117128]\|not provided [RCV003769156]\|not specified [RCV005236612]	benign\|likely benign\|uncertain significance	15	90999068	90999068	Human	1	name
150414658	CV1177944	single nucleotide variant	NM_018668.5(VPS33B):c.1581+166C>G	not provided [RCV001548232]	likely benign	15	91000324	91000324	Human		name
150410228	CV1177945	single nucleotide variant	NM_018668.5(VPS33B):c.1106-120T>C	not provided [RCV001546533]	likely benign	15	91005239	91005239	Human		name
150424438	CV1185049	deletion	NM_018668.5(VPS33B):c.1775-135del	not provided [RCV001556657]	likely benign	15	90999189	90999189	Human		name
150407805	CV1195013	single nucleotide variant	NM_018668.5(VPS33B):c.1581+183C>A	not provided [RCV001572444]	likely benign	15	91000307	91000307	Human		name
150405729	CV1195014	single nucleotide variant	NM_018668.5(VPS33B):c.1226-174C>T	not provided [RCV001571762]	likely benign	15	91003305	91003305	Human		name
150482147	CV1209920	single nucleotide variant	NM_018668.5(VPS33B):c.1272+211G>A	not provided [RCV001590618]	likely benign	15	91002874	91002874	Human		name
150463244	CV1214758	single nucleotide variant	NM_018668.5(VPS33B):c.1406-139G>A	not provided [RCV001613752]	benign	15	91001601	91001601	Human		name
150516315	CV1216804	single nucleotide variant	NM_018668.5(VPS33B):c.1775-232T>C	not provided [RCV001608706]	benign	15	90999286	90999286	Human		name
150472867	CV1217251	duplication	NM_018668.5(VPS33B):c.1272+226dup	not provided [RCV001615546]	benign	15	91002857	91002858	Human		name
150473864	CV1217702	single nucleotide variant	NM_018668.5(VPS33B):c.1406-153G>A	not provided [RCV001615713]	benign	15	91001615	91001615	Human		name
150478009	CV1218715	single nucleotide variant	NM_018668.5(VPS33B):c.1774+106G>A	not provided [RCV001616342]	benign	15	90999571	90999571	Human		name
150435923	CV1221763	single nucleotide variant	NM_018668.5(VPS33B):c.1406-208G>A	not provided [RCV001609454]	benign	15	91001670	91001670	Human		name
150507248	CV1226544	single nucleotide variant	NM_018668.5(VPS33B):c.1774+168C>G	not provided [RCV001635912]	benign	15	90999509	90999509	Human		name
150432899	CV1231579	single nucleotide variant	NM_018668.5(VPS33B):c.1226-106A>T	not provided [RCV001643241]	benign	15	91003237	91003237	Human		name
150474491	CV1234459	single nucleotide variant	NM_018668.5(VPS33B):c.1226-252C>T	not provided [RCV001651779]	benign	15	91003383	91003383	Human		name
150456641	CV1235234	deletion	NM_018668.5(VPS33B):c.1775-198del	not provided [RCV001648650]	benign	15	90999252	90999252	Human		name
150457012	CV1235282	single nucleotide variant	NM_018668.5(VPS33B):c.1226-136A>C	not provided [RCV001648698]	benign	15	91003267	91003267	Human		name
150499396	CV1235724	single nucleotide variant	NM_018668.5(VPS33B):c.1774+112G>A	not provided [RCV001656407]	benign	15	90999565	90999565	Human		name
150485915	CV1250326	single nucleotide variant	NM_018668.5(VPS33B):c.1479+202T>C	not provided [RCV001673939]	benign	15	91001187	91001187	Human		name
150486704	CV1251400	single nucleotide variant	NM_018668.5(VPS33B):c.1273-123A>G	not provided [RCV001674071]	benign	15	91002305	91002305	Human		name
150474075	CV1252510	single nucleotide variant	NM_018668.5(VPS33B):c.1272+203C>T	not provided [RCV001671713]	benign	15	91002882	91002882	Human		name
150503350	CV1257777	single nucleotide variant	NM_018668.5(VPS33B):c.1480-255T>C	not provided [RCV001677465]	benign	15	91000846	91000846	Human	5	name
150503350	CV1257777	single nucleotide variant	NM_018668.5(VPS33B):c.1480-255T>C	not provided [RCV001677465]	benign	15	91000846	91000847	Human	5	name
150440556	CV1265127	single nucleotide variant	NM_018668.5(VPS33B):c.1582-202G>A	not provided [RCV001679120]	benign	15	91000177	91000177	Human		name
150469534	CV1268114	duplication	NM_018668.5(VPS33B):c.1775-276dup	not provided [RCV001694977]	benign	15	90999318	90999319	Human		name
150481541	CV1279776	deletion	NM_018668.5(VPS33B):c.1775-265del	not provided [RCV001714865]	benign	15	90999319	90999319	Human		name
150508563	CV1284313	single nucleotide variant	NM_018668.5(VPS33B):c.1581+200G>A	not provided [RCV001720421]	benign	15	91000290	91000290	Human		name
155267697	CV1705097	duplication	NM_018668.5(VPS33B):c.1775-130dup	not provided [RCV002285702]	likely benign	15	90999183	90999184	Human		name
150531745	CV1291372	microsatellite	NM_018668.5(VPS33B):c.403+57GTT[2]	not provided [RCV001733198]	likely benign	15	91009736	91009738	Human		name
597861057	CV3880774	deletion	NM_018668.5(VPS33B):c.290-2_291del	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005229608]	pathogenic	15	91013870	91013873	Human	1	name
401925244	CV2805322	deletion	NM_018668.5(VPS33B):c.701-7_701-6del	not specified [RCV003405143]	uncertain significance	15	91006735	91006736	Human		name
150462967	CV1276156	microsatellite	NM_018668.5(VPS33B):c.852+66_852+90del	not provided [RCV001710101]	benign	15	91006282	91006306	Human		name
11545751	CV255439	deletion	NM_018668.5(VPS33B):c.240-13_240-12del	Arthrogryposis with renal dysfunction and cholestasis syndrome [RCV000405825]\|not provided [RCV001636804]\|not specified [RCV000245562]	benign\|likely benign	15	91014445	91014446	Human	1	name
405198544	CV3164479	single nucleotide variant	NM_018668.5(VPS33B):c.5C>T (p.Ala2Val)	not provided [RCV003860536]	uncertain significance	15	91022245	91022245	Human		name
405263362	CV3189469	single nucleotide variant	NM_018668.5(VPS33B):c.30T>G (p.Pro10=)	VPS33B-related disorder [RCV003896703]	likely benign	15	91022220	91022220	Human		name , trait , alternate_id
13515923	CV491452	single nucleotide variant	NM_018668.5(VPS33B):c.75G>A (p.Gln25=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118851]\|not provided [RCV000594885]\|not specified [RCV004800485]	likely benign\|uncertain significance	15	91022175	91022175	Human	1	name
13838073	CV589367	single nucleotide variant	NM_018668.5(VPS33B):c.39T>A (p.Pro13=)	not provided [RCV000734669]	uncertain significance	15	91022211	91022211	Human		name
15170310	CV754795	single nucleotide variant	NM_018668.5(VPS33B):c.33G>A (p.Glu11=)	not provided [RCV000919809]	likely benign	15	91022217	91022217	Human		name
11547925	CV255440	single nucleotide variant	NM_018668.5(VPS33B):c.151C>A (p.Arg51=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000303554]\|not provided [RCV001610700]\|not specified [RCV000248397]	benign\|likely benign	15	91017831	91017831	Human	1	name
11642880	CV266587	single nucleotide variant	NM_018668.5(VPS33B):c.153A>G (p.Arg51=)	not provided [RCV000383828]	uncertain significance	15	91017829	91017829	Human		name
401771887	CV2711958	single nucleotide variant	NM_018668.5(VPS33B):c.19C>T (p.Pro7Ser)	Inborn genetic diseases [RCV003261640]	uncertain significance	15	91022231	91022231	Human	1	name
405243001	CV3042919	single nucleotide variant	NM_018668.5(VPS33B):c.183C>T (p.His61=)	VPS33B-related disorder [RCV003901295]\|not provided [RCV003719540]\|not specified [RCV004783093]	likely benign	15	91017019	91017019	Human		name , trait , alternate_id
405212219	CV3063179	single nucleotide variant	NM_018668.5(VPS33B):c.162T>C (p.Asn54=)	not provided [RCV003732169]	likely benign	15	91017820	91017820	Human		name
597741141	CV3711139	single nucleotide variant	NM_018668.5(VPS33B):c.26C>A (p.Ala9Asp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013775]	uncertain significance	15	91022224	91022224	Human	1	name
597861714	CV3880886	single nucleotide variant	NM_018668.5(VPS33B):c.207G>A (p.Val69=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005229714]	uncertain significance	15	91016995	91016995	Human	1	name
13523613	CV491862	single nucleotide variant	NM_018668.5(VPS33B):c.198A>G (p.Leu66=)	not provided [RCV000593225]	conflicting interpretations of pathogenicity\|uncertain significance	15	91017004	91017004	Human		name
126741415	CV1018009	single nucleotide variant	NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001329688]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005014436]	uncertain significance	15	91022206	91022206	Human	1	name
150335283	CV1164645	duplication	NM_018668.5(VPS33B):c.289+129_289+131dup	not provided [RCV001530212]	likely benign	15	91014252	91014253	Human		name
150422860	CV1181325	deletion	NM_018668.5(VPS33B):c.289+160_289+164del	not provided [RCV001553223]	likely benign	15	91014220	91014224	Human		name
150514677	CV1228595	deletion	NM_018668.5(VPS33B):c.1479+78_1479+79del	not provided [RCV001638583]	benign	15	91001310	91001311	Human		name
150492376	CV1266641	deletion	NM_018668.5(VPS33B):c.1582-78_1582-77del	not provided [RCV001687963]	benign	15	91000052	91000053	Human		name
151727927	CV1517450	single nucleotide variant	NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002052065]	pathogenic	15	91022183	91022183	Human	1	name
152979950	CV1678304	single nucleotide variant	NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002246809]\|not provided [RCV003094042]	pathogenic	15	91022166	91022166	Human	1	name
8556691	CV17242	single nucleotide variant	NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000002287]	pathogenic	15	91022161	91022161	Human	1	name
156255017	CV1894180	single nucleotide variant	NM_018668.5(VPS33B):c.457C>T (p.Leu153=)	VPS33B-related disorder [RCV003953875]\|not provided [RCV003086244]	likely benign	15	91007911	91007911	Human		name , trait , alternate_id
10048891	CV194998	single nucleotide variant	NM_018668.5(VPS33B):c.357G>A (p.Lys119=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117218]\|not provided [RCV000948965]\|not specified [RCV000178971]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	91013804	91013804	Human	1	name
155926909	CV2070885	single nucleotide variant	NM_018668.5(VPS33B):c.813T>C (p.Ser271=)	not provided [RCV002838572]	likely benign	15	91006411	91006411	Human		name
156008355	CV2075319	single nucleotide variant	NM_018668.5(VPS33B):c.798A>G (p.Pro266=)	not provided [RCV002843736]	likely benign	15	91006426	91006426	Human		name
156150331	CV2175302	single nucleotide variant	NM_018668.5(VPS33B):c.876G>A (p.Glu292=)	not provided [RCV003040349]	likely benign	15	91006036	91006036	Human		name
11547206	CV255437	single nucleotide variant	NM_018668.5(VPS33B):c.648C>T (p.Gly216=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000383971]\|not provided [RCV000961014]\|not specified [RCV000247461]	benign\|likely benign	15	91007002	91007002	Human	1	name
11543450	CV255438	single nucleotide variant	NM_018668.5(VPS33B):c.597C>T (p.Cys199=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000344240]\|not provided [RCV000947648]\|not specified [RCV000242472]	benign\|likely benign	15	91007475	91007475	Human	1	name
405070230	CV2875781	single nucleotide variant	NM_018668.5(VPS33B):c.366G>A (p.Ala122=)	VPS33B-related disorder [RCV003909003]\|not provided [RCV003548428]	likely benign	15	91009838	91009838	Human		name , trait , alternate_id
402481721	CV2921597	single nucleotide variant	NM_018668.5(VPS33B):c.789C>T (p.Asp263=)	not provided [RCV003572159]	likely benign	15	91006435	91006435	Human		name
402511488	CV2938692	single nucleotide variant	NM_018668.5(VPS33B):c.927G>A (p.Gln309=)	not provided [RCV003662507]	likely benign	15	91005985	91005985	Human		name
405216011	CV2977959	single nucleotide variant	NM_018668.5(VPS33B):c.901T>C (p.Leu301=)	not provided [RCV003709325]	likely benign	15	91006011	91006011	Human		name
402486895	CV3034020	single nucleotide variant	NM_018668.5(VPS33B):c.306C>T (p.Asp102=)	not provided [RCV003713385]	likely benign	15	91013855	91013855	Human		name
405040675	CV3063941	single nucleotide variant	NM_018668.5(VPS33B):c.660C>T (p.Gly220=)	not provided [RCV003739894]	likely benign	15	91006990	91006990	Human		name
405215815	CV3124629	single nucleotide variant	NM_018668.5(VPS33B):c.873C>T (p.Asn291=)	not provided [RCV003823991]	likely benign	15	91006039	91006039	Human		name
405214608	CV3143150	single nucleotide variant	NM_018668.5(VPS33B):c.825G>A (p.Leu275=)	VPS33B-related disorder [RCV003892230]\|not provided [RCV003846313]\|not specified [RCV005240963]	likely benign	15	91006399	91006399	Human		name , trait , alternate_id
405199192	CV3147145	single nucleotide variant	NM_018668.5(VPS33B):c.642G>A (p.Glu214=)	not provided [RCV003844305]	likely benign	15	91007008	91007008	Human		name
402500834	CV3170558	single nucleotide variant	NM_018668.5(VPS33B):c.855G>A (p.Val285=)	not provided [RCV003877931]	likely benign	15	91006057	91006057	Human		name
402504430	CV3181465	single nucleotide variant	NM_018668.5(VPS33B):c.822C>T (p.Ser274=)	not provided [RCV003878299]	likely benign	15	91006402	91006402	Human		name
405289428	CV3218274	single nucleotide variant	NM_018668.5(VPS33B):c.894T>C (p.Phe298=)	VPS33B-related disorder [RCV003983676]	likely benign	15	91006018	91006018	Human		name , trait , alternate_id
405811473	CV3342088	single nucleotide variant	NM_018668.5(VPS33B):c.44T>A (p.Phe15Tyr)	Inborn genetic diseases [RCV004482801]	uncertain significance	15	91022206	91022206	Human	1	name
11616078	CV340109	single nucleotide variant	NM_018668.5(VPS33B):c.609A>G (p.Ala203=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000291674]\|not provided [RCV000957339]	benign\|likely benign	15	91007041	91007041	Human	1	name
11617430	CV340114	single nucleotide variant	NM_018668.5(VPS33B):c.363T>C (p.Tyr121=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000304523]\|not provided [RCV000585525]	benign\|likely benign	15	91009841	91009841	Human	1	name
596932853	CV3539505	single nucleotide variant	NM_018668.5(VPS33B):c.83A>G (p.Tyr28Cys)	not provided [RCV004794130]	uncertain significance	15	91022167	91022167	Human		name
596947245	CV3548795	single nucleotide variant	NM_018668.5(VPS33B):c.558C>A (p.Leu186=)	not provided [RCV004811119]	likely benign	15	91007514	91007514	Human		name
597756702	CV3711136	single nucleotide variant	NM_018668.5(VPS33B):c.82T>C (p.Tyr28His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017452]	uncertain significance	15	91022168	91022168	Human	1	name
597741136	CV3711137	single nucleotide variant	NM_018668.5(VPS33B):c.65C>T (p.Ala22Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013774]	uncertain significance	15	91022185	91022185	Human	1	name
597851320	CV3737521	single nucleotide variant	NM_018668.5(VPS33B):c.744G>A (p.Glu248=)	not provided [RCV005066294]	likely benign	15	91006686	91006686	Human		name
597922123	CV3738466	single nucleotide variant	NM_018668.5(VPS33B):c.330A>G (p.Lys110=)	not provided [RCV005074873]	likely benign	15	91013831	91013831	Human		name
597867447	CV3739156	single nucleotide variant	NM_018668.5(VPS33B):c.324T>C (p.Thr108=)	not provided [RCV005068223]	likely benign	15	91013837	91013837	Human		name
597908428	CV3853710	single nucleotide variant	NM_018668.5(VPS33B):c.84T>G (p.Tyr28Ter)	not provided [RCV005203193]	pathogenic	15	91022166	91022166	Human		name
598189780	CV4008744	single nucleotide variant	NM_018668.5(VPS33B):c.61C>G (p.Leu21Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005396243]	uncertain significance	15	91022189	91022189	Human	1	name
12894201	CV409394	deletion	NM_018668.5(VPS33B):c.242del (p.Leu81fs)	not provided [RCV000481910]	pathogenic	15	91014431	91014431	Human		name
13522413	CV493769	single nucleotide variant	NM_018668.5(VPS33B):c.978C>T (p.Phe326=)	not provided [RCV000591709]	uncertain significance	15	91005746	91005746	Human		name
13515225	CV494186	single nucleotide variant	NM_018668.5(VPS33B):c.50T>A (p.Met17Lys)	not provided [RCV000594014]	uncertain significance	15	91022200	91022200	Human		name
13534325	CV513106	single nucleotide variant	NM_018668.5(VPS33B):c.498G>C (p.Leu166=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000625584]	likely pathogenic	15	91007870	91007870	Human	1	name
13833882	CV585122	single nucleotide variant	NM_018668.5(VPS33B):c.456G>T (p.Leu152=)	VPS33B-related disorder [RCV003918195]\|not provided [RCV000729268]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91007912	91007912	Human		name , trait , alternate_id
13834356	CV585602	single nucleotide variant	NM_018668.5(VPS33B):c.966G>A (p.Gln322=)	not provided [RCV000729849]	uncertain significance	15	91005758	91005758	Human		name
28875178	CV874331	single nucleotide variant	NM_018668.5(VPS33B):c.888T>C (p.Asn296=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001115784]\|not provided [RCV003679037]	likely benign\|uncertain significance	15	91006024	91006024	Human	1	name
8573670	CV94426	deletion	NM_018668.5(VPS33B):c.240-577_290-156del	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000074445]	pathogenic	15	91014027	91015010	Human	1	name
150547066	CV1314037	single nucleotide variant	NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005006046]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005232660]\|VPS33B-related disorder [RCV003911012]\|not provided [RCV002034578]	pathogenic	15	91014396	91014396	Human	3	name , trait , alternate_id
156283190	CV1896930	single nucleotide variant	NM_018668.5(VPS33B):c.161A>G (p.Asn54Ser)	not provided [RCV003087192]	uncertain significance	15	91017821	91017821	Human		name
10050827	CV192502	single nucleotide variant	NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000263050]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008099]\|not provided [RCV000175903]	uncertain significance	15	91017849	91017849	Human	1	name
10050828	CV192503	single nucleotide variant	NM_018668.5(VPS33B):c.136A>T (p.Met46Leu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000355972]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008100]\|not provided [RCV000175904]	uncertain significance	15	91017846	91017846	Human	1	name
156358932	CV1925348	single nucleotide variant	NM_018668.5(VPS33B):c.217C>A (p.Pro73Thr)	not provided [RCV002651492]	uncertain significance	15	91016985	91016985	Human		name
10048307	CV192855	single nucleotide variant	NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000405773]\|not provided [RCV000885290]\|not specified [RCV000176323]	benign\|likely benign\|uncertain significance	15	90999750	90999750	Human	1	name
156190265	CV1961673	indel	NM_018668.5(VPS33B):c.96+18_96+19delinsAT	not provided [RCV002574387]	uncertain significance	15	91022135	91022136	Human		name
156393134	CV1987910	single nucleotide variant	NM_018668.5(VPS33B):c.290G>A (p.Ser97Asn)	Inborn genetic diseases [RCV004965990]\|not provided [RCV002635182]	likely benign\|uncertain significance	15	91013871	91013871	Human	1	name
156262519	CV2053806	single nucleotide variant	NM_018668.5(VPS33B):c.177G>C (p.Lys59Asn)	not provided [RCV002792065]	uncertain significance	15	91017805	91017805	Human		name
155937995	CV2054702	single nucleotide variant	NM_018668.5(VPS33B):c.1624C>A (p.Arg542=)	not provided [RCV002815502]	likely benign	15	90999933	90999933	Human		name
156212786	CV2074329	single nucleotide variant	NM_018668.5(VPS33B):c.1653C>T (p.Phe551=)	not provided [RCV002829364]	likely benign	15	90999904	90999904	Human		name
11543211	CV255429	single nucleotide variant	NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000308372]\|not provided [RCV001709551]\|not specified [RCV000242161]	benign\|likely benign	15	90999780	90999780	Human	1	name
11545528	CV255431	single nucleotide variant	NM_018668.5(VPS33B):c.1656A>T (p.Thr552=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000363103]\|not provided [RCV001651228]\|not specified [RCV000245260]	benign\|likely benign	15	90999901	90999901	Human	1	name
11551451	CV255434	single nucleotide variant	NM_018668.5(VPS33B):c.1392C>T (p.Thr464=)	not provided [RCV000970289]\|not specified [RCV000253068]	benign	15	91002063	91002063	Human		name
11640705	CV272330	single nucleotide variant	NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)	VPS33B-related disorder [RCV003949909]\|not provided [RCV000342778]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	90999702	90999702	Human		name , trait , alternate_id
11636615	CV273048	indel	NM_018668.5(VPS33B):c.701-8_701-5delinsGA	not provided [RCV000270712]	uncertain significance	15	91006734	91006737	Human		name
11639832	CV274069	single nucleotide variant	NM_018668.5(VPS33B):c.122T>C (p.Ile41Thr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005016683]\|Inborn genetic diseases [RCV003165773]\|not provided [RCV000326724]	uncertain significance	15	91017860	91017860	Human	2	name
11636399	CV274113	single nucleotide variant	NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)	VPS33B-related disorder [RCV003920161]\|not provided [RCV000268030]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91004895	91004895	Human		name , trait , alternate_id
401964303	CV2843616	single nucleotide variant	NM_018668.5(VPS33B):c.239A>G (p.Gln80Arg)	not specified [RCV003479959]	uncertain significance	15	91016963	91016963	Human		name
401960965	CV2844356	single nucleotide variant	NM_018668.5(VPS33B):c.232A>G (p.Asn78Asp)	not provided [RCV003480151]	uncertain significance	15	91016970	91016970	Human		name
402499417	CV2922875	single nucleotide variant	NM_018668.5(VPS33B):c.1665T>A (p.Thr555=)	not provided [RCV003573834]	likely benign	15	90999786	90999786	Human		name
405091414	CV2937445	single nucleotide variant	NM_018668.5(VPS33B):c.1725T>G (p.Gly575=)	not provided [RCV003665308]	likely benign	15	90999726	90999726	Human		name
405125396	CV2939264	single nucleotide variant	NM_018668.5(VPS33B):c.1557C>G (p.Pro519=)	not provided [RCV003671834]	likely benign	15	91000514	91000514	Human		name
405121429	CV2952488	single nucleotide variant	NM_018668.5(VPS33B):c.1722T>C (p.Gly574=)	not provided [RCV003671514]	likely benign	15	90999729	90999729	Human		name
405156292	CV2960848	single nucleotide variant	NM_018668.5(VPS33B):c.1722T>G (p.Gly574=)	not provided [RCV003670403]	likely benign	15	90999729	90999729	Human		name
405239971	CV2993562	single nucleotide variant	NM_018668.5(VPS33B):c.1311G>A (p.Leu437=)	not provided [RCV003718991]	likely benign	15	91002144	91002144	Human		name
402487376	CV2999197	single nucleotide variant	NM_018668.5(VPS33B):c.1743C>T (p.Ile581=)	not provided [RCV003687198]	likely benign	15	90999708	90999708	Human		name
405064038	CV3020721	single nucleotide variant	NM_018668.5(VPS33B):c.1326C>T (p.Leu442=)	not provided [RCV003697899]	likely benign	15	91002129	91002129	Human		name
405236755	CV3036045	single nucleotide variant	NM_018668.5(VPS33B):c.1797G>A (p.Thr599=)	not provided [RCV003712490]	likely benign	15	90999032	90999032	Human		name
405226826	CV3039393	single nucleotide variant	NM_018668.5(VPS33B):c.1650A>G (p.Ala550=)	not provided [RCV003710788]	likely benign	15	90999907	90999907	Human		name
405225909	CV3142440	single nucleotide variant	NM_018668.5(VPS33B):c.1782G>A (p.Arg594=)	not provided [RCV003847979]	likely benign	15	90999047	90999047	Human		name
405227457	CV3152894	single nucleotide variant	NM_018668.5(VPS33B):c.1533C>T (p.Tyr511=)	not provided [RCV003848149]	likely benign	15	91000538	91000538	Human		name
405135449	CV3160247	single nucleotide variant	NM_018668.5(VPS33B):c.1384C>T (p.Leu462=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013249]\|VPS33B-related disorder [RCV003893521]\|not provided [RCV003855062]	likely benign\|uncertain significance	15	91002071	91002071	Human	3	name , trait , alternate_id
405285296	CV3212340	single nucleotide variant	NM_018668.5(VPS33B):c.1575T>A (p.Ile525=)	VPS33B-related disorder [RCV003958956]	likely benign	15	91000496	91000496	Human		name , trait , alternate_id
11608599	CV323587	single nucleotide variant	NM_018668.5(VPS33B):c.1332G>A (p.Thr444=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000357574]\|not provided [RCV000967392]	benign\|likely benign\|uncertain significance	15	91002123	91002123	Human	1	name
405811471	CV3342087	single nucleotide variant	NM_018668.5(VPS33B):c.263G>A (p.Arg88His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005015150]\|Inborn genetic diseases [RCV004482800]	uncertain significance	15	91014410	91014410	Human	2	name
596932852	CV3539504	single nucleotide variant	NM_018668.5(VPS33B):c.108A>T (p.Lys36Asn)	not provided [RCV004794129]	uncertain significance	15	91017874	91017874	Human		name
597756662	CV3711116	deletion	NM_018668.5(VPS33B):c.600del (p.Lys201fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017445]	likely pathogenic	15	91007472	91007472	Human	1	name
597741113	CV3711130	single nucleotide variant	NM_018668.5(VPS33B):c.275T>C (p.Met92Thr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013770]	uncertain significance	15	91014398	91014398	Human	1	name
597756690	CV3711131	single nucleotide variant	NM_018668.5(VPS33B):c.274A>T (p.Met92Leu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017450]	uncertain significance	15	91014399	91014399	Human	1	name
597741118	CV3711132	single nucleotide variant	NM_018668.5(VPS33B):c.202A>C (p.Lys68Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013771]	uncertain significance	15	91017000	91017000	Human	1	name
597741123	CV3711134	single nucleotide variant	NM_018668.5(VPS33B):c.163G>A (p.Val55Ile)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013772]	uncertain significance	15	91017819	91017819	Human	1	name
597741129	CV3711135	single nucleotide variant	NM_018668.5(VPS33B):c.133C>G (p.Leu45Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013773]	uncertain significance	15	91017849	91017849	Human	1	name
597733857	CV3714992	single nucleotide variant	NM_018668.5(VPS33B):c.1797G>C (p.Thr599=)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012209]	uncertain significance	15	90999032	90999032	Human	1	name
597933913	CV3750365	single nucleotide variant	NM_018668.5(VPS33B):c.1176G>A (p.Ser392=)	not provided [RCV005076290]	likely benign	15	91004926	91004926	Human		name
597844578	CV3752633	single nucleotide variant	NM_018668.5(VPS33B):c.1713G>A (p.Val571=)	not provided [RCV005087039]	likely benign	15	90999738	90999738	Human		name
597890965	CV3762938	single nucleotide variant	NM_018668.5(VPS33B):c.229T>C (p.Ser77Pro)	not provided [RCV005110711]	uncertain significance	15	91016973	91016973	Human		name
597865024	CV3814179	single nucleotide variant	NM_018668.5(VPS33B):c.1853G>A (p.Ter618=)	not provided [RCV005147248]	likely benign	15	90998976	90998976	Human		name
13518174	CV490208	single nucleotide variant	NM_018668.5(VPS33B):c.1014C>T (p.His338=)	VPS33B-related disorder [RCV003900318]\|not provided [RCV000597089]	likely benign\|uncertain significance	15	91005710	91005710	Human		name , trait , alternate_id
13530963	CV512160	duplication	NM_018668.5(VPS33B):c.832dup (p.Leu278fs)	Inborn genetic diseases [RCV000622928]	pathogenic	15	91006391	91006392	Human	1	name
13611304	CV514682	deletion	NM_018668.5(VPS33B):c.350del (p.Pro117fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001251001]\|not provided [RCV000627439]	pathogenic	15	91013811	91013811	Human	1	name
13827577	CV578522	single nucleotide variant	NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000714694]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005021118]\|not provided [RCV003147539]	pathogenic	15	91017831	91017831	Human	1	name
13833248	CV584478	single nucleotide variant	NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)	VPS33B-related disorder [RCV003953298]\|not provided [RCV000728446]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91002093	91002093	Human		name , trait , alternate_id
13833526	CV584761	single nucleotide variant	NM_018668.5(VPS33B):c.1851C>T (p.Ala617=)	not provided [RCV000728810]	uncertain significance	15	90998978	90998978	Human		name
13838287	CV589587	single nucleotide variant	NM_018668.5(VPS33B):c.152G>A (p.Arg51Gln)	not provided [RCV000734937]	uncertain significance	15	91017830	91017830	Human		name
15172463	CV714693	single nucleotide variant	NM_018668.5(VPS33B):c.1815C>T (p.Ser605=)	not provided [RCV000962995]	likely benign	15	90999014	90999014	Human		name
15169782	CV739885	single nucleotide variant	NM_018668.5(VPS33B):c.1407A>C (p.Gly469=)	not provided [RCV000907889]	likely benign	15	91001461	91001461	Human		name
15170040	CV754794	single nucleotide variant	NM_018668.5(VPS33B):c.1806C>A (p.Val602=)	not provided [RCV000914034]	likely benign	15	90999023	90999023	Human		name
126741418	CV1018008	single nucleotide variant	NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001329689]	uncertain significance	15	91007500	91007500	Human	1	name
150468098	CV1207365	microsatellite	NM_018668.5(VPS33B):c.1406-282_1406-279del	not provided [RCV001588054]	likely benign	15	91001741	91001744	Human		name
150528794	CV1288500	single nucleotide variant	NM_018668.5(VPS33B):c.767G>A (p.Arg256His)	not provided [RCV001726968]	uncertain significance	15	91006663	91006663	Human		name
150556302	CV1296868	single nucleotide variant	NM_018668.5(VPS33B):c.869G>A (p.Arg290Gln)	not provided [RCV001774158]	uncertain significance	15	91006043	91006043	Human		name
151797974	CV1352679	single nucleotide variant	NM_018668.5(VPS33B):c.544C>G (p.Leu182Val)	not provided [RCV001877116]	uncertain significance	15	91007528	91007528	Human		name
151794911	CV1393114	single nucleotide variant	NM_018668.5(VPS33B):c.598G>A (p.Ala200Thr)	VPS33B-related disorder [RCV004754811]\|not provided [RCV001952393]	uncertain significance	15	91007474	91007474	Human		name , trait , alternate_id
151887028	CV1478094	single nucleotide variant	NM_018668.5(VPS33B):c.787G>A (p.Asp263Asn)	not provided [RCV002038099]	uncertain significance	15	91006437	91006437	Human		name
151834346	CV1505015	single nucleotide variant	NM_018668.5(VPS33B):c.917G>A (p.Arg306Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017022]\|not provided [RCV001976973]	uncertain significance	15	91005995	91005995	Human	1	name
151839514	CV1511638	single nucleotide variant	NM_018668.5(VPS33B):c.658G>C (p.Gly220Arg)	not provided [RCV001956576]	uncertain significance	15	91006992	91006992	Human		name
151728419	CV1517519	duplication	NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002052135]\|Cholestasis, progressive familial intrahepatic, 12 [RCV002276993]	pathogenic	15	91000561	91000562	Human	2	name
155266031	CV1704918	single nucleotide variant	NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002285217]	likely pathogenic	15	91007029	91007029	Human	1	name
155715336	CV1760425	single nucleotide variant	NM_018668.5(VPS33B):c.983C>T (p.Ser328Phe)	not provided [RCV002300932]	uncertain significance	15	91005741	91005741	Human		name
156363205	CV1901368	single nucleotide variant	NM_018668.5(VPS33B):c.571C>T (p.Pro191Ser)	not provided [RCV002602642]	uncertain significance	15	91007501	91007501	Human		name
156402384	CV2010072	single nucleotide variant	NM_018668.5(VPS33B):c.346A>G (p.Ser116Gly)	not provided [RCV002726121]	uncertain significance	15	91013815	91013815	Human		name
156365538	CV2020862	single nucleotide variant	NM_018668.5(VPS33B):c.590G>A (p.Gly197Asp)	not provided [RCV002721158]	uncertain significance	15	91007482	91007482	Human		name
156161884	CV2056432	single nucleotide variant	NM_018668.5(VPS33B):c.680A>C (p.His227Pro)	not provided [RCV002801661]	uncertain significance	15	91006970	91006970	Human		name
156050941	CV2068397	single nucleotide variant	NM_018668.5(VPS33B):c.697A>G (p.Arg233Gly)	not provided [RCV002846434]	uncertain significance	15	91006953	91006953	Human		name
155979678	CV2073294	single nucleotide variant	NM_018668.5(VPS33B):c.638A>T (p.Glu213Val)	not provided [RCV002842455]	uncertain significance	15	91007012	91007012	Human		name
156314853	CV2074788	single nucleotide variant	NM_018668.5(VPS33B):c.800A>T (p.Glu267Val)	not provided [RCV002834338]	uncertain significance	15	91006424	91006424	Human		name
156082019	CV2098723	single nucleotide variant	NM_018668.5(VPS33B):c.320G>A (p.Arg107Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008783]\|not provided [RCV002912735]	uncertain significance	15	91013841	91013841	Human	5	name
156025122	CV2137712	single nucleotide variant	NM_018668.5(VPS33B):c.365C>T (p.Ala122Val)	not provided [RCV002976347]	uncertain significance	15	91009839	91009839	Human		name
156288719	CV2229799	single nucleotide variant	NM_018668.5(VPS33B):c.465G>A (p.Met155Ile)	Inborn genetic diseases [RCV002747605]\|not provided [RCV005059250]	uncertain significance	15	91007903	91007903	Human	1	name
156123983	CV2234154	single nucleotide variant	NM_018668.5(VPS33B):c.779G>A (p.Gly260Glu)	Inborn genetic diseases [RCV002762485]	uncertain significance	15	91006445	91006445	Human	1	name
156231910	CV2245121	single nucleotide variant	NM_018668.5(VPS33B):c.398A>T (p.Tyr133Phe)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005011123]\|Inborn genetic diseases [RCV002767709]	uncertain significance	15	91009806	91009806	Human	2	name
329352132	CV2452069	single nucleotide variant	NM_018668.5(VPS33B):c.797C>T (p.Pro266Leu)	Inborn genetic diseases [RCV003200292]	uncertain significance	15	91006427	91006427	Human	1	name
329378308	CV2463626	single nucleotide variant	NM_018668.5(VPS33B):c.811T>C (p.Ser271Pro)	Inborn genetic diseases [RCV003212125]	uncertain significance	15	91006413	91006413	Human	1	name
11526006	CV247109	single nucleotide variant	NM_018668.5(VPS33B):c.481T>C (p.Phe161Leu)	not specified [RCV000239205]	uncertain significance	15	91007887	91007887	Human		name
11643661	CV265757	single nucleotide variant	NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly)	not provided [RCV000884879]\|not specified [RCV000396607]	benign\|likely benign	15	91006382	91006382	Human		name
11633375	CV270890	deletion	NM_018668.5(VPS33B):c.1616del (p.Glu539fs)	not provided [RCV000333604]	pathogenic	15	90999941	90999941	Human		name
11580430	CV273438	single nucleotide variant	NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000333016]\|VPS33B-related disorder [RCV003930162]\|not provided [RCV000400617]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91005780	91005780	Human	1	name , trait , alternate_id
401921604	CV2802362	single nucleotide variant	NM_018668.5(VPS33B):c.326G>A (p.Arg109His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012939]\|VPS33B-related disorder [RCV003403002]	uncertain significance	15	91013835	91013835	Human	3	name , trait , alternate_id
404985782	CV2852346	single nucleotide variant	NM_018668.5(VPS33B):c.728C>T (p.Ser243Phe)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005022004]\|not specified [RCV003489587]	uncertain significance	15	91006702	91006702	Human	1	name
405149159	CV2891930	single nucleotide variant	NM_018668.5(VPS33B):c.313G>T (p.Ala105Ser)	not provided [RCV003561599]	uncertain significance	15	91013848	91013848	Human		name
11602674	CV323591	single nucleotide variant	NM_018668.5(VPS33B):c.868C>T (p.Arg290Trp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000293071]\|Inborn genetic diseases [RCV002520979]	uncertain significance	15	91006044	91006044	Human	2	name
405811475	CV3342089	single nucleotide variant	NM_018668.5(VPS33B):c.478T>C (p.Phe160Leu)	Inborn genetic diseases [RCV004482802]	uncertain significance	15	91007890	91007890	Human	1	name
405811477	CV3342090	single nucleotide variant	NM_018668.5(VPS33B):c.479T>A (p.Phe160Tyr)	Inborn genetic diseases [RCV004482803]	uncertain significance	15	91007889	91007889	Human	1	name
11624736	CV341543	single nucleotide variant	NM_018668.5(VPS33B):c.941G>A (p.Arg314His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000389723]\|not provided [RCV002281084]	uncertain significance	15	91005783	91005783	Human	1	name
11621577	CV341550	single nucleotide variant	NM_018668.5(VPS33B):c.680A>G (p.His227Arg)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000350385]\|not provided [RCV003565406]	likely benign\|uncertain significance	15	91006970	91006970	Human	1	name
407532578	CV3491399	single nucleotide variant	NM_018668.5(VPS33B):c.533A>G (p.Gln178Arg)	Inborn genetic diseases [RCV004683223]	uncertain significance	15	91007539	91007539	Human	1	name
408365943	CV3512734	single nucleotide variant	NM_018668.5(VPS33B):c.956A>G (p.Asp319Gly)	VPS33B-related disorder [RCV004755442]	uncertain significance	15	91005768	91005768	Human		name , trait , alternate_id
596932851	CV3539503	single nucleotide variant	NM_018668.5(VPS33B):c.557T>C (p.Leu186Pro)	not provided [RCV004794128]	uncertain significance	15	91007515	91007515	Human		name
155973183	CV361965	single nucleotide variant	NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010317]\|not provided [RCV002521490]	pathogenic	15	91013842	91013842	Human	1	name
597643748	CV3626530	single nucleotide variant	NM_018668.5(VPS33B):c.587T>C (p.Ile196Thr)	Inborn genetic diseases [RCV004972269]	uncertain significance	15	91007485	91007485	Human	1	name
597756594	CV3711092	deletion	NM_018668.5(VPS33B):c.1283del (p.Pro428fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017433]	likely pathogenic	15	91002172	91002172	Human	1	name
597756621	CV3711102	single nucleotide variant	NM_018668.5(VPS33B):c.943C>T (p.Arg315Trp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017438]	uncertain significance	15	91005781	91005781	Human	1	name
597733956	CV3711103	single nucleotide variant	NM_018668.5(VPS33B):c.934T>C (p.Tyr312His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012225]	uncertain significance	15	91005978	91005978	Human	1	name
597756628	CV3711105	single nucleotide variant	NM_018668.5(VPS33B):c.913G>T (p.Ala305Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017439]	uncertain significance	15	91005999	91005999	Human	1	name
597733966	CV3711106	single nucleotide variant	NM_018668.5(VPS33B):c.896G>C (p.Gly299Ala)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012227]	uncertain significance	15	91006016	91006016	Human	1	name
597756645	CV3711109	single nucleotide variant	NM_018668.5(VPS33B):c.844G>A (p.Glu282Lys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017442]	uncertain significance	15	91006380	91006380	Human	1	name
597733979	CV3711111	single nucleotide variant	NM_018668.5(VPS33B):c.757G>A (p.Asp253Asn)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012229]	uncertain significance	15	91006673	91006673	Human	1	name
597733986	CV3711115	single nucleotide variant	NM_018668.5(VPS33B):c.655A>G (p.Lys219Glu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012230]	uncertain significance	15	91006995	91006995	Human	1	name
597733995	CV3711117	single nucleotide variant	NM_018668.5(VPS33B):c.599C>T (p.Ala200Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012231]	uncertain significance	15	91007473	91007473	Human	1	name
597756667	CV3711118	single nucleotide variant	NM_018668.5(VPS33B):c.593G>A (p.Arg198Lys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017446]	uncertain significance	15	91007479	91007479	Human	1	name
597734001	CV3711119	single nucleotide variant	NM_018668.5(VPS33B):c.581A>C (p.Tyr194Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012232]	uncertain significance	15	91007491	91007491	Human	1	name
597741082	CV3711122	single nucleotide variant	NM_018668.5(VPS33B):c.489T>A (p.Asp163Glu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013765]	uncertain significance	15	91007879	91007879	Human	1	name
597741090	CV3711123	single nucleotide variant	NM_018668.5(VPS33B):c.440C>T (p.Pro147Leu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013766]	uncertain significance	15	91007928	91007928	Human	1	name
597741094	CV3711124	single nucleotide variant	NM_018668.5(VPS33B):c.430T>G (p.Ser144Ala)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013767]	uncertain significance	15	91007938	91007938	Human	1	name
597756673	CV3711125	single nucleotide variant	NM_018668.5(VPS33B):c.415G>A (p.Asp139Asn)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017447]	uncertain significance	15	91007953	91007953	Human	1	name
597741099	CV3711126	single nucleotide variant	NM_018668.5(VPS33B):c.413G>A (p.Cys138Tyr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013768]	uncertain significance	15	91007955	91007955	Human	1	name
597741106	CV3711127	single nucleotide variant	NM_018668.5(VPS33B):c.344T>G (p.Phe115Cys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013769]	uncertain significance	15	91013817	91013817	Human	1	name
597854450	CV3762480	single nucleotide variant	NM_018668.5(VPS33B):c.545T>C (p.Leu182Pro)	not specified [RCV005088396]	uncertain significance	15	91007527	91007527	Human		name
597919311	CV3781089	single nucleotide variant	NM_018668.5(VPS33B):c.389A>G (p.Glu130Gly)	not provided [RCV005129971]	uncertain significance	15	91009815	91009815	Human		name
597885475	CV3799961	single nucleotide variant	NM_018668.5(VPS33B):c.806C>T (p.Thr269Ile)	not provided [RCV005150439]	uncertain significance	15	91006418	91006418	Human		name
597957070	CV3800374	single nucleotide variant	NM_018668.5(VPS33B):c.514T>C (p.Trp172Arg)	not provided [RCV005137466]	uncertain significance	15	91007558	91007558	Human		name
598158485	CV3896749	deletion	NM_018668.5(VPS33B):c.1236del (p.Lys413fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005367869]	likely pathogenic	15	91003121	91003121	Human	1	name
598241555	CV3925972	single nucleotide variant	NM_018668.5(VPS33B):c.631G>A (p.Glu211Lys)	Inborn genetic diseases [RCV005296950]	uncertain significance	15	91007019	91007019	Human	1	name
598217489	CV3925973	single nucleotide variant	NM_018668.5(VPS33B):c.979G>A (p.Val327Met)	Inborn genetic diseases [RCV005293041]	uncertain significance	15	91005745	91005745	Human	1	name
598241561	CV3925974	single nucleotide variant	NM_018668.5(VPS33B):c.468A>T (p.Glu156Asp)	Inborn genetic diseases [RCV005296951]	uncertain significance	15	91007900	91007900	Human	1	name
13517064	CV490249	single nucleotide variant	NM_018668.5(VPS33B):c.299A>G (p.Asn100Ser)	Inborn genetic diseases [RCV003243208]\|not provided [RCV000596283]	uncertain significance	15	91013862	91013862	Human	1	name
13522535	CV492391	single nucleotide variant	NM_018668.5(VPS33B):c.565C>T (p.Pro189Ser)	not provided [RCV000591856]\|not specified [RCV005240303]	uncertain significance	15	91007507	91007507	Human		name
13520191	CV493758	single nucleotide variant	NM_018668.5(VPS33B):c.662G>A (p.Arg221Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001115785]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010584]\|Inborn genetic diseases [RCV005298546]\|VPS33B-related disorder [RCV004754492]\|not provided [RCV000598449]	uncertain significance	15	91006988	91006988	Human	4	name , trait , alternate_id
13517993	CV493988	single nucleotide variant	NM_018668.5(VPS33B):c.646G>A (p.Gly216Ser)	not provided [RCV000596995]	uncertain significance	15	91007004	91007004	Human		name
13834587	CV585836	single nucleotide variant	NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010736]\|Inborn genetic diseases [RCV002535143]\|not provided [RCV000730139]\|not specified [RCV004782535]	likely pathogenic\|uncertain significance	15	91009801	91009801	Human	2	name
13835662	CV586924	single nucleotide variant	NM_018668.5(VPS33B):c.766C>T (p.Arg256Cys)	Inborn genetic diseases [RCV002536466]\|not provided [RCV000731536]	uncertain significance	15	91006664	91006664	Human	1	name
13835827	CV587090	single nucleotide variant	NM_018668.5(VPS33B):c.637G>A (p.Glu213Lys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010739]\|VPS33B-related disorder [RCV003392570]\|not provided [RCV000731730]	uncertain significance	15	91007013	91007013	Human	3	name , trait , alternate_id
13835897	CV587160	single nucleotide variant	NM_018668.5(VPS33B):c.874G>A (p.Glu292Lys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010740]\|not provided [RCV000731818]	uncertain significance	15	91006038	91006038	Human	1	name
13836091	CV587360	single nucleotide variant	NM_018668.5(VPS33B):c.761C>G (p.Thr254Ser)	not provided [RCV000732084]	uncertain significance	15	91006669	91006669	Human		name
13837997	CV589296	single nucleotide variant	NM_018668.5(VPS33B):c.512G>A (p.Arg171His)	Inborn genetic diseases [RCV004678813]\|not provided [RCV000734576]	uncertain significance	15	91007560	91007560	Human	1	name
28890701	CV874330	single nucleotide variant	NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001120712]	uncertain significance	15	91005996	91005996	Human	1	name
28879465	CV874332	single nucleotide variant	NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117216]	uncertain significance	15	91007564	91007564	Human	1	name
40903141	CV976779	single nucleotide variant	NM_018668.5(VPS33B):c.434T>C (p.Leu145Ser)	Abnormal bleeding [RCV001270516]\|not provided [RCV003770412]	uncertain significance	15	91007934	91007934	Human	2	name
126741411	CV1018007	single nucleotide variant	NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001329687]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005014435]\|not provided [RCV002275359]\|not specified [RCV001824173]	likely benign\|uncertain significance	15	90999049	90999049	Human	1	name
150549704	CV1301153	single nucleotide variant	NM_018668.5(VPS33B):c.1193G>A (p.Arg398His)	Inborn genetic diseases [RCV003346678]\|VPS33B-related disorder [RCV003948709]\|not provided [RCV001765294]	uncertain significance	15	91004909	91004909	Human	1	name , trait , alternate_id
151729073	CV1517614	single nucleotide variant	NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002052230]	likely pathogenic	15	90999955	90999955	Human	1	name
152979949	CV1678303	single nucleotide variant	NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV002246808]	pathogenic	15	91000552	91000552	Human	1	name
153302372	CV1688197	single nucleotide variant	NM_018668.5(VPS33B):c.1454G>A (p.Arg485His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017173]\|VPS33B-related disorder [RCV003933734]\|not provided [RCV002265423]	uncertain significance	15	91001414	91001414	Human	3	name , trait , alternate_id
8556689	CV17240	single nucleotide variant	NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000002285]\|not provided [RCV003555897]	pathogenic	15	90999963	90999963	Human	1	name
8556690	CV17241	single nucleotide variant	NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000002286]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005016223]\|VPS33B-related disorder [RCV004754235]\|not provided [RCV002292453]	pathogenic	15	91002143	91002143	Human	3	name , trait , alternate_id
155744319	CV1773022	single nucleotide variant	NM_018668.5(VPS33B):c.1201T>C (p.Cys401Arg)	not provided [RCV002303094]	uncertain significance	15	91004901	91004901	Human		name
155937158	CV1867494	single nucleotide variant	NM_018668.5(VPS33B):c.1796C>T (p.Thr599Met)	Inborn genetic diseases [RCV003375624]\|not provided [RCV002509966]	uncertain significance	15	90999033	90999033	Human	1	name
155998088	CV1872581	single nucleotide variant	NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005010927]\|Inborn genetic diseases [RCV003051222]\|not provided [RCV003076445]	uncertain significance	15	90999962	90999962	Human	2	name
156099292	CV1920627	single nucleotide variant	NM_018668.5(VPS33B):c.1654A>C (p.Thr552Pro)	not provided [RCV002592214]	uncertain significance	15	90999903	90999903	Human		name
155961876	CV1931610	single nucleotide variant	NM_018668.5(VPS33B):c.1015C>T (p.Arg339Cys)	Inborn genetic diseases [RCV002628445]\|VPS33B-related disorder [RCV003410125]\|not provided [RCV002616770]	uncertain significance	15	91005709	91005709	Human	1	name , trait , alternate_id
156447141	CV1944782	single nucleotide variant	NM_018668.5(VPS33B):c.1568G>A (p.Arg523Gln)	not provided [RCV003118668]	uncertain significance	15	91000503	91000503	Human		name
156414834	CV1955053	single nucleotide variant	NM_018668.5(VPS33B):c.1520G>A (p.Arg507Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008632]\|not provided [RCV002588831]	uncertain significance	15	91000551	91000551	Human	1	name
156223235	CV1981425	single nucleotide variant	NM_018668.5(VPS33B):c.1672G>C (p.Asp558His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008668]\|not provided [RCV002626522]	uncertain significance	15	90999779	90999779	Human	1	name
156350089	CV2001203	single nucleotide variant	NM_018668.5(VPS33B):c.1540G>C (p.Gly514Arg)	VPS33B-related disorder [RCV004754892]\|not provided [RCV002675529]	uncertain significance	15	91000531	91000531	Human		name , trait , alternate_id
156064706	CV2022186	single nucleotide variant	NM_018668.5(VPS33B):c.1294C>A (p.Leu432Ile)	not provided [RCV002760129]	uncertain significance	15	91002161	91002161	Human		name
156319488	CV2071280	single nucleotide variant	NM_018668.5(VPS33B):c.1368G>C (p.Glu456Asp)	not provided [RCV002834603]	uncertain significance	15	91002087	91002087	Human		name
155961447	CV2131874	single nucleotide variant	NM_018668.5(VPS33B):c.1129C>T (p.Arg377Trp)	not provided [RCV002995176]	uncertain significance	15	91005096	91005096	Human		name
156285322	CV2134099	single nucleotide variant	NM_018668.5(VPS33B):c.1559T>C (p.Leu520Pro)	not provided [RCV003009747]	uncertain significance	15	91000512	91000512	Human		name
10767377	CV221061	single nucleotide variant	NM_018668.5(VPS33B):c.1130G>C (p.Arg377Pro)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000204599]	association	15	91005095	91005095	Human	1	name
155969795	CV2244664	single nucleotide variant	NM_018668.5(VPS33B):c.1363G>A (p.Val455Met)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005011121]\|Inborn genetic diseases [RCV002776739]\|not provided [RCV005227829]	uncertain significance	15	91002092	91002092	Human	2	name
155983779	CV2275217	single nucleotide variant	NM_018668.5(VPS33B):c.1604A>G (p.Gln535Arg)	Inborn genetic diseases [RCV002863901]	uncertain significance	15	90999953	90999953	Human	1	name
156275637	CV2290683	single nucleotide variant	NM_018668.5(VPS33B):c.1034T>C (p.Ile345Thr)	Inborn genetic diseases [RCV002896189]	uncertain significance	15	91005451	91005451	Human	1	name
156395240	CV2325313	single nucleotide variant	NM_018668.5(VPS33B):c.1495G>A (p.Gly499Ser)	Inborn genetic diseases [RCV002944473]	uncertain significance	15	91000576	91000576	Human	1	name
156190552	CV2325500	single nucleotide variant	NM_018668.5(VPS33B):c.1262A>C (p.Gln421Pro)	Inborn genetic diseases [RCV002930955]	uncertain significance	15	91003095	91003095	Human	1	name
329365855	CV2441165	single nucleotide variant	NM_018668.5(VPS33B):c.1307A>G (p.Asn436Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012801]\|Inborn genetic diseases [RCV003207428]\|VPS33B-related disorder [RCV003420605]	uncertain significance	15	91002148	91002148	Human	4	name , trait , alternate_id
329358741	CV2450683	single nucleotide variant	NM_018668.5(VPS33B):c.1504G>A (p.Asp502Asn)	Inborn genetic diseases [RCV003204153]	uncertain significance	15	91000567	91000567	Human	1	name
329358800	CV2450714	single nucleotide variant	NM_018668.5(VPS33B):c.1367A>G (p.Glu456Gly)	Inborn genetic diseases [RCV003204184]	uncertain significance	15	91002088	91002088	Human	1	name
11551549	CV255432	single nucleotide variant	NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000989400]\|not provided [RCV001709550]\|not specified [RCV000253189]	benign	15	91000531	91000531	Human	1	name
11640061	CV270358	single nucleotide variant	NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)	VPS33B-related disorder [RCV003967750]\|not provided [RCV000331023]\|not specified [RCV003987492]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	90999737	90999737	Human		name , trait , alternate_id
401773328	CV2716528	single nucleotide variant	NM_018668.5(VPS33B):c.1814G>A (p.Ser605Asn)	Inborn genetic diseases [RCV003304942]	uncertain significance	15	90999015	90999015	Human	1	name
401868484	CV2767250	single nucleotide variant	NM_018668.5(VPS33B):c.1754G>A (p.Arg585Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005399348]\|Inborn genetic diseases [RCV003345442]\|not provided [RCV003491371]	uncertain significance	15	90999697	90999697	Human	2	name
401887615	CV2773547	single nucleotide variant	NM_018668.5(VPS33B):c.1092C>G (p.Ile364Met)	Inborn genetic diseases [RCV003367256]	uncertain significance	15	91005393	91005393	Human	1	name
401926673	CV2798720	single nucleotide variant	NM_018668.5(VPS33B):c.1816G>A (p.Ala606Thr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012923]\|VPS33B-related disorder [RCV003406010]	uncertain significance	15	90999013	90999013	Human	3	name , trait , alternate_id
401960964	CV2844355	single nucleotide variant	NM_018668.5(VPS33B):c.1625G>A (p.Arg542Gln)	not provided [RCV003480150]	uncertain significance	15	90999932	90999932	Human		name
404996736	CV2851475	single nucleotide variant	NM_018668.5(VPS33B):c.1529C>T (p.Ala510Val)	not provided [RCV003491847]	uncertain significance	15	91000542	91000542	Human		name
405123521	CV3126380	single nucleotide variant	NM_018668.5(VPS33B):c.1133A>G (p.Glu378Gly)	not provided [RCV003815132]	uncertain significance	15	91005092	91005092	Human		name
11613092	CV333314	single nucleotide variant	NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)	Abnormal bleeding [RCV001270571]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000265166]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005396956]\|VPS33B-related disorder [RCV003930369]\|not provided [RCV000734911]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91002181	91002181	Human	7	name , trait , alternate_id
405811460	CV3342081	single nucleotide variant	NM_018668.5(VPS33B):c.1073A>T (p.Gln358Leu)	Inborn genetic diseases [RCV004482794]	uncertain significance	15	91005412	91005412	Human	1	name
405811462	CV3342082	single nucleotide variant	NM_018668.5(VPS33B):c.1147A>G (p.Ile383Val)	Inborn genetic diseases [RCV004482795]	uncertain significance	15	91005078	91005078	Human	1	name
405811464	CV3342083	single nucleotide variant	NM_018668.5(VPS33B):c.1342C>T (p.Pro448Ser)	Inborn genetic diseases [RCV004482796]	uncertain significance	15	91002113	91002113	Human	1	name
405811466	CV3342084	single nucleotide variant	NM_018668.5(VPS33B):c.1462A>C (p.Ser488Arg)	Inborn genetic diseases [RCV004482797]	uncertain significance	15	91001406	91001406	Human	1	name
405811467	CV3342085	single nucleotide variant	NM_018668.5(VPS33B):c.1635C>G (p.Asn545Lys)	Inborn genetic diseases [RCV004482798]	uncertain significance	15	90999922	90999922	Human	1	name
405811469	CV3342086	single nucleotide variant	NM_018668.5(VPS33B):c.1696C>T (p.Arg566Cys)	Inborn genetic diseases [RCV004482799]	uncertain significance	15	90999755	90999755	Human	1	name
11613207	CV340095	single nucleotide variant	NM_018668.5(VPS33B):c.1591C>T (p.Arg531Trp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000266429]	uncertain significance	15	90999966	90999966	Human	1	name
11623432	CV340102	single nucleotide variant	NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000372554]\|Microcephaly [RCV001252830]\|VPS33B-related disorder [RCV003940242]\|not provided [RCV000899084]\|not specified [RCV000729557]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	91005077	91005077	Human	3	name , trait , alternate_id
407487924	CV3415060	single nucleotide variant	NM_018668.5(VPS33B):c.1405G>C (p.Gly469Arg)	not specified [RCV004597395]	uncertain significance	15	91002050	91002050	Human		name
407532576	CV3491397	single nucleotide variant	NM_018668.5(VPS33B):c.1820G>A (p.Arg607His)	Inborn genetic diseases [RCV004683221]	uncertain significance	15	90999009	90999009	Human	1	name
407532577	CV3491398	single nucleotide variant	NM_018668.5(VPS33B):c.1661T>C (p.Met554Thr)	Inborn genetic diseases [RCV004683222]	uncertain significance	15	90999790	90999790	Human	1	name
408384896	CV3506329	single nucleotide variant	NM_018668.5(VPS33B):c.1180A>G (p.Ile394Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017231]\|VPS33B-related disorder [RCV004732156]	uncertain significance	15	91004922	91004922	Human	3	name , trait , alternate_id
408366233	CV3516670	single nucleotide variant	NM_018668.5(VPS33B):c.1487G>A (p.Arg496His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005006540]\|VPS33B-related disorder [RCV004755671]	uncertain significance	15	91000584	91000584	Human	3	name , trait , alternate_id
408382842	CV3525655	single nucleotide variant	NM_018668.5(VPS33B):c.1697G>A (p.Arg566His)	not specified [RCV004766564]	uncertain significance	15	90999754	90999754	Human		name
596920427	CV3534611	single nucleotide variant	NM_018668.5(VPS33B):c.1708G>A (p.Val570Met)	not specified [RCV004782172]	uncertain significance	15	90999743	90999743	Human		name
596932850	CV3539502	single nucleotide variant	NM_018668.5(VPS33B):c.1313G>A (p.Arg438Gln)	not provided [RCV004794127]	uncertain significance	15	91002142	91002142	Human		name
597643743	CV3626529	single nucleotide variant	NM_018668.5(VPS33B):c.1159A>G (p.Ile387Val)	Inborn genetic diseases [RCV004972268]	uncertain significance	15	91005066	91005066	Human	1	name
597643753	CV3626531	single nucleotide variant	NM_018668.5(VPS33B):c.1669G>C (p.Glu557Gln)	Inborn genetic diseases [RCV004972270]	uncertain significance	15	90999782	90999782	Human	1	name
597756599	CV3711093	single nucleotide variant	NM_018668.5(VPS33B):c.1250C>A (p.Ser417Tyr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017434]	uncertain significance	15	91003107	91003107	Human	1	name
597733930	CV3711095	single nucleotide variant	NM_018668.5(VPS33B):c.1193G>C (p.Arg398Pro)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012221]	uncertain significance	15	91004909	91004909	Human	1	name
597756604	CV3711096	single nucleotide variant	NM_018668.5(VPS33B):c.1123A>G (p.Asn375Asp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017435]	uncertain significance	15	91005102	91005102	Human	1	name
597756611	CV3711097	single nucleotide variant	NM_018668.5(VPS33B):c.1067C>T (p.Thr356Ile)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017436]	uncertain significance	15	91005418	91005418	Human	1	name
597756616	CV3711098	single nucleotide variant	NM_018668.5(VPS33B):c.1057A>C (p.Lys353Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017437]	uncertain significance	15	91005428	91005428	Human	1	name
597733949	CV3711101	single nucleotide variant	NM_018668.5(VPS33B):c.1024A>T (p.Ser342Cys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012224]	uncertain significance	15	91005700	91005700	Human	1	name
597733874	CV3714995	single nucleotide variant	NM_018668.5(VPS33B):c.1700T>C (p.Leu567Pro)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012212]	uncertain significance	15	90999751	90999751	Human	1	name
597733882	CV3714996	single nucleotide variant	NM_018668.5(VPS33B):c.1699C>T (p.Leu567Phe)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012213]	uncertain significance	15	90999752	90999752	Human	1	name
597733888	CV3714998	single nucleotide variant	NM_018668.5(VPS33B):c.1697G>C (p.Arg566Pro)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012214]	uncertain significance	15	90999754	90999754	Human	1	name
597756548	CV3714999	single nucleotide variant	NM_018668.5(VPS33B):c.1670A>C (p.Glu557Ala)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017424]	uncertain significance	15	90999781	90999781	Human	1	name
597733893	CV3715000	single nucleotide variant	NM_018668.5(VPS33B):c.1663A>T (p.Thr555Ser)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012215]	uncertain significance	15	90999788	90999788	Human	1	name
597733900	CV3715001	single nucleotide variant	NM_018668.5(VPS33B):c.1660A>G (p.Met554Val)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012216]	uncertain significance	15	90999791	90999791	Human	1	name
597756553	CV3715002	single nucleotide variant	NM_018668.5(VPS33B):c.1637G>A (p.Cys546Tyr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017425]	uncertain significance	15	90999920	90999920	Human	1	name
597733906	CV3715003	single nucleotide variant	NM_018668.5(VPS33B):c.1565G>A (p.Cys522Tyr)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012217]	uncertain significance	15	91000506	91000506	Human	1	name
597756563	CV3715004	single nucleotide variant	NM_018668.5(VPS33B):c.1516C>G (p.Pro506Ala)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017427]	uncertain significance	15	91000555	91000555	Human	1	name
597733918	CV3715007	single nucleotide variant	NM_018668.5(VPS33B):c.1409A>G (p.Lys470Arg)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012219]	uncertain significance	15	91001459	91001459	Human	1	name
597756572	CV3715008	single nucleotide variant	NM_018668.5(VPS33B):c.1395C>A (p.Asp465Glu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017429]	uncertain significance	15	91002060	91002060	Human	1	name
597756584	CV3715010	single nucleotide variant	NM_018668.5(VPS33B):c.1357A>G (p.Thr453Ala)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017431]	uncertain significance	15	91002098	91002098	Human	1	name
597756589	CV3715011	single nucleotide variant	NM_018668.5(VPS33B):c.1331C>T (p.Thr444Met)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017432]	uncertain significance	15	91002124	91002124	Human	1	name
597953079	CV3756977	single nucleotide variant	NM_018668.5(VPS33B):c.1781G>A (p.Arg594Lys)	not provided [RCV005079838]	uncertain significance	15	90999048	90999048	Human		name
598189773	CV4008743	single nucleotide variant	NM_018668.5(VPS33B):c.1519C>G (p.Arg507Gly)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005396242]	uncertain significance	15	91000552	91000552	Human	1	name
616933080	CV4012556	single nucleotide variant	NM_018668.5(VPS33B):c.1703T>A (p.Ile568Asn)	not specified [RCV005406689]	uncertain significance	15	90999748	90999748	Human		name
616938191	CV4013138	single nucleotide variant	NM_018668.5(VPS33B):c.1766G>A (p.Arg589Lys)	not provided [RCV005410605]	uncertain significance	15	90999685	90999685	Human		name
13216699	CV429751	single nucleotide variant	NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000504086]\|Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005018863]\|not provided [RCV002524333]	pathogenic\|likely pathogenic	15	91000573	91000573	Human	1	name
13518317	CV490947	single nucleotide variant	NM_018668.5(VPS33B):c.1685G>T (p.Ser562Ile)	not provided [RCV000597264]	uncertain significance	15	90999766	90999766	Human		name
13522280	CV491044	single nucleotide variant	NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000765242]\|not provided [RCV000591538]	uncertain significance	15	90999766	90999766	Human	1	name
13519757	CV492249	single nucleotide variant	NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive [RCV003227804]\|not provided [RCV000598122]	pathogenic	15	91003111	91003111	Human	1	name
13832026	CV582523	single nucleotide variant	NM_018668.5(VPS33B):c.1030C>A (p.His344Asn)	not provided [RCV000722711]	uncertain significance	15	91005694	91005694	Human		name
13832110	CV582601	single nucleotide variant	NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118765]\|not provided [RCV000722793]	uncertain significance	15	91004910	91004910	Human	1	name
13833947	CV585187	single nucleotide variant	NM_018668.5(VPS33B):c.1130G>A (p.Arg377Gln)	not provided [RCV000729339]	uncertain significance	15	91005095	91005095	Human		name
13834590	CV585839	single nucleotide variant	NM_018668.5(VPS33B):c.1198A>G (p.Met400Val)	not provided [RCV000730142]\|not specified [RCV005418326]	uncertain significance	15	91004904	91004904	Human		name
13834834	CV586084	single nucleotide variant	NM_018668.5(VPS33B):c.1144T>A (p.Tyr382Asn)	not provided [RCV000730446]	uncertain significance	15	91005081	91005081	Human		name
13835083	CV586337	single nucleotide variant	NM_018668.5(VPS33B):c.1534G>A (p.Val512Ile)	not provided [RCV000730781]	uncertain significance	15	91000537	91000537	Human		name
13835095	CV586350	single nucleotide variant	NM_018668.5(VPS33B):c.1015C>G (p.Arg339Gly)	Inborn genetic diseases [RCV002535172]\|not provided [RCV000730794]	uncertain significance	15	91005709	91005709	Human	1	name
13835176	CV586433	single nucleotide variant	NM_018668.5(VPS33B):c.1033A>T (p.Ile345Phe)	not provided [RCV000730898]	uncertain significance	15	91005452	91005452	Human		name
13835826	CV587089	single nucleotide variant	NM_018668.5(VPS33B):c.1351A>G (p.Thr451Ala)	Inborn genetic diseases [RCV004965721]\|VPS33B-related disorder [RCV003420307]\|not provided [RCV000731729]	uncertain significance	15	91002104	91002104	Human	1	name , trait , alternate_id
13837585	CV588875	single nucleotide variant	NM_018668.5(VPS33B):c.1567C>G (p.Arg523Gly)	Inborn genetic diseases [RCV004027077]\|not provided [RCV000734049]	uncertain significance	15	91000504	91000504	Human	1	name
13837705	CV588995	single nucleotide variant	NM_018668.5(VPS33B):c.1588G>C (p.Glu530Gln)	not provided [RCV000734194]	uncertain significance	15	90999969	90999969	Human		name
13837948	CV589246	single nucleotide variant	NM_018668.5(VPS33B):c.1393G>A (p.Asp465Asn)	Inborn genetic diseases [RCV004027085]\|not provided [RCV000734520]	uncertain significance	15	91002062	91002062	Human	1	name
13838024	CV589323	single nucleotide variant	NM_018668.5(VPS33B):c.1157A>C (p.His386Pro)	not provided [RCV000734605]	uncertain significance	15	91005068	91005068	Human		name
13838115	CV589410	single nucleotide variant	NM_018668.5(VPS33B):c.1259C>T (p.Thr420Ile)	not provided [RCV000734722]	uncertain significance	15	91003098	91003098	Human		name
15040479	CV682127	single nucleotide variant	NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000855548]\|Cholestasis, progressive familial intrahepatic, 12 [RCV002275163]	pathogenic	15	90999725	90999725	Human	2	name
15172021	CV703427	single nucleotide variant	NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001120709]\|VPS33B-related disorder [RCV003960628]\|not provided [RCV000951324]	benign\|likely benign	15	91005059	91005059	Human	1	name , trait , alternate_id
38597656	CV801903	single nucleotide variant	NM_018668.5(VPS33B):c.1420G>C (p.Ala474Pro)	Microcephaly [RCV001252915]	uncertain significance	15	91001448	91001448	Human	2	name
28879159	CV874327	single nucleotide variant	NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001117129]	uncertain significance	15	90999732	90999732	Human	1	name
28884514	CV874328	single nucleotide variant	NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001118764]\|Inborn genetic diseases [RCV002558174]\|VPS33B-related disorder [RCV004754692]\|not provided [RCV005093536]	uncertain significance	15	91000570	91000570	Human	2	name , trait , alternate_id
28890696	CV874329	single nucleotide variant	NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001120710]\|not provided [RCV003480965]	uncertain significance	15	91005060	91005060	Human	1	name
243062468	CV2404913	microsatellite	NM_018668.5(VPS33B):c.454CTG[1] (p.Leu153del)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV003140462]	likely pathogenic	15	91007909	91007911	Human		name
408366051	CV3514442	deletion	NM_018668.5(VPS33B):c.893_894del (p.Phe298fs)	VPS33B-related disorder [RCV004755539]	likely pathogenic	15	91006018	91006019	Human		name , trait , alternate_id
597756657	CV3711114	microsatellite	NM_018668.5(VPS33B):c.672_673del (p.Glu224fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005017444]	likely pathogenic	15	91006977	91006978	Human		name
15040404	CV615892	microsatellite	NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000855447]	likely pathogenic	15	91007513	91007514	Human		name
597741076	CV3711120	deletion	NM_018668.5(VPS33B):c.546_548del (p.Leu183del)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005013764]	uncertain significance	15	91007524	91007526	Human	1	name
405258736	CV3194136	deletion	NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005015085]\|VPS33B-related disorder [RCV003893717]	likely pathogenic	15	90999916	90999934	Human	3	name , trait , alternate_id
597733869	CV3714994	microsatellite	NM_018668.5(VPS33B):c.1768_1771del (p.Glu590fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012211]	uncertain significance	15	90999680	90999683	Human		name
8573672	CV94428	microsatellite	NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV000074447]	pathogenic	15	91003095	91003096	Human		name
405289206	CV3193981	indel	NM_018668.5(VPS33B):c.1463_1464delinsA (p.Ser488fs)	VPS33B-related disorder [RCV003983484]	likely pathogenic	15	91001404	91001405	Human		name , trait , alternate_id
597733924	CV3711094	indel	NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005012220]\|not provided [RCV005061871]	pathogenic	15	91003121	91003122	Human		name
153350077	CV1694202	indel	NM_018668.5(VPS33B):c.390_392delinsAGA (p.Gly131Glu)	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive [RCV002276516]	pathogenic\|likely pathogenic	15	91009812	91009814	Human		name
156389997	CV1990025	indel	NM_018668.5(VPS33B):c.1840_1841delinsCT (p.Glu614Leu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005008662]\|not provided [RCV002604582]	uncertain significance	15	90998988	90998989	Human		name
596925160	CV3536945	indel	NM_018668.5(VPS33B):c.1752_1753delinsGGGCAGAGAGAAA (p.Arg585fs)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV004785939]	likely pathogenic	15	90999698	90999699	Human		name
12740777	CV360320	indel	NM_018668.5(VPS33B):c.133_136delinsATCT (p.Leu45_Met46delinsIleLeu)	Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV005018711]\|not specified [RCV000413065]	uncertain significance	15	91017846	91017849	Human		name

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