Adamts13 Variant Search Result - Rat Genome Database

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1016 records found for search term Adamts13

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11602979	CV317529	single nucleotide variant	NM_139027.6(ADAMTS13):c.-52C>G	Upshaw-Schulman syndrome [RCV000295534]	uncertain significance	9	133422392	133422392	Human	1	name
28880861	CV901332	single nucleotide variant	NM_139027.6(ADAMTS13):c.-26C>T	Upshaw-Schulman syndrome [RCV001167464]	uncertain significance	9	133422418	133422418	Human	1	name
28878245	CV901377	single nucleotide variant	NM_139027.6(ADAMTS13):c.*41G>A	Upshaw-Schulman syndrome [RCV001166690]	uncertain significance	9	133459221	133459221	Human	1	name
28878247	CV901378	single nucleotide variant	NM_139027.6(ADAMTS13):c.*77C>T	Upshaw-Schulman syndrome [RCV001166691]	likely benign	9	133459257	133459257	Human	1	name
150501010	CV1223612	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+74=	not provided [RCV001620733]	benign	9	133426419	133426419	Human		name
11602255	CV311534	single nucleotide variant	NM_139025.4(ADAMTS13):c.-357T>C	Upshaw-Schulman syndrome [RCV000289469]\|not provided [RCV001653751]	benign\|likely benign	9	133422087	133422087	Human	1	name
11605987	CV311540	single nucleotide variant	NM_139025.4(ADAMTS13):c.-280G>A	Upshaw-Schulman syndrome [RCV000325892]	uncertain significance	9	133422164	133422164	Human	1	name
11611030	CV317068	single nucleotide variant	NM_139025.4(ADAMTS13):c.-155C>T	Upshaw-Schulman syndrome [RCV000389739]	uncertain significance	9	133422289	133422289	Human	1	name
28880858	CV901331	single nucleotide variant	NM_139025.4(ADAMTS13):c.-168C>T	Upshaw-Schulman syndrome [RCV001167463]\|not provided [RCV004707574]	likely benign	9	133422276	133422276	Human	1	name
28884179	CV901379	single nucleotide variant	NM_139027.6(ADAMTS13):c.*168C>T	Upshaw-Schulman syndrome [RCV001168422]\|not provided [RCV004718829]	benign	9	133459348	133459348	Human	1	name
150330766	CV1168665	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+2T>C	Upshaw-Schulman syndrome [RCV001536088]	likely pathogenic	9	133424480	133424480	Human	1	name
150330693	CV1171932	variation	NM_139027.6(ADAMTS13):c.1245-32=	not provided [RCV001538226]	benign	9	133433609	133433609	Human		name
150461314	CV1234763	single nucleotide variant	NM_139027.6(ADAMTS13):c.988-302=	not provided [RCV001649345]	benign	9	133432286	133432286	Human		name
150484856	CV1280582	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-26=	not provided [RCV001715469]	benign	9	133440318	133440318	Human		name
156281956	CV1931647	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-7C>G	not provided [RCV002628463]	likely benign	9	133424314	133424314	Human		name
156150259	CV1964316	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-4C>T	not provided [RCV002572874]	likely benign	9	133426195	133426195	Human		name
156334707	CV1966768	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-6C>G	not provided [RCV002600972]	likely benign	9	133424315	133424315	Human		name
156283029	CV2001513	single nucleotide variant	NM_139027.6(ADAMTS13):c.988-3T>C	not provided [RCV002646908]	uncertain significance	9	133432585	133432585	Human		name
8558946	CV20856	single nucleotide variant	NM_139027.6(ADAMTS13):c.414+1G>A	Upshaw-Schulman syndrome [RCV000006173]	pathogenic	9	133425613	133425613	Human	1	name
8558948	CV20858	single nucleotide variant	NM_139027.6(ADAMTS13):c.331-1G>A	Upshaw-Schulman syndrome [RCV000006175]	pathogenic	9	133425528	133425528	Human	1	name
156375229	CV2124042	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-8C>G	Upshaw-Schulman syndrome [RCV005050665]\|not provided [RCV002942654]	uncertain significance	9	133428626	133428626	Human	1	name
11544530	CV253380	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+4T>G	Upshaw-Schulman syndrome [RCV000343479]\|not provided [RCV001610748]\|not specified [RCV000243916]	benign\|likely benign	9	133426349	133426349	Human	3	name
11544530	CV253380	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+4T>G	Upshaw-Schulman syndrome [RCV000343479]\|not provided [RCV001610748]\|not specified [RCV000243916]	benign\|likely benign	9	133426349	133426350	Human	3	name
405217274	CV2872681	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-8C>A	not provided [RCV003553385]\|not specified [RCV004526264]	likely benign\|uncertain significance	9	133428626	133428626	Human		name
405238635	CV2996802	single nucleotide variant	NM_139027.6(ADAMTS13):c.331-8T>C	not provided [RCV003718705]	likely benign	9	133425521	133425521	Human		name
11601328	CV307292	single nucleotide variant	NM_139027.6(ADAMTS13):c.415-5C>T	Upshaw-Schulman syndrome [RCV000281583]\|not provided [RCV000929988]\|not specified [RCV003387835]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133425933	133425933	Human	1	name
11606933	CV311542	single nucleotide variant	NM_139027.6(ADAMTS13):c.539+7G>A	Upshaw-Schulman syndrome [RCV000337739]\|not provided [RCV002523745]\|not specified [RCV003987523]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133426069	133426069	Human	1	name
11652186	CV311544	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+5C>G	Upshaw-Schulman syndrome [RCV000303617]	uncertain significance	9	133428776	133428776	Human	1	name
402523581	CV3127006	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+7G>C	not provided [RCV003824924]	likely benign	9	133428778	133428778	Human		name
405070235	CV3140266	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-6G>T	not provided [RCV003833421]	likely benign	9	133428628	133428628	Human		name
405215771	CV3160684	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-9C>T	not provided [RCV003862746]	likely benign	9	133426190	133426190	Human		name
11664309	CV317069	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-3G>A	Upshaw-Schulman syndrome [RCV000404666]\|not provided [RCV001861346]	uncertain significance	9	133426196	133426196	Human	1	name
405259200	CV3194614	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+8C>T	ADAMTS13-related disorder [RCV003894008]\|not specified [RCV005407285]	likely benign\|uncertain significance	9	133424486	133424486	Human	1	name , alternate_id
597686828	CV3729408	single nucleotide variant	NM_139027.6(ADAMTS13):c.539+5C>T	Upshaw-Schulman syndrome [RCV005045937]	uncertain significance	9	133426067	133426067	Human	1	name
597713740	CV3729413	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-7C>A	Upshaw-Schulman syndrome [RCV005048956]	uncertain significance	9	133428627	133428627	Human	1	name
597884689	CV3745479	duplication	NM_139027.6(ADAMTS13):c.687-7dup	not provided [RCV005070315]	benign	9	133428621	133428622	Human		name
597970634	CV3750311	single nucleotide variant	NM_139027.6(ADAMTS13):c.825-9T>G	not provided [RCV005084252]	likely benign	9	133429930	133429930	Human		name
597936020	CV3759511	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+9C>A	not provided [RCV005076631]	likely benign	9	133424487	133424487	Human		name
14693366	CV620810	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+1G>A	Upshaw-Schulman syndrome [RCV000778876]	pathogenic\|likely pathogenic	9	133424479	133424479	Human	1	name
14705301	CV654534	single nucleotide variant	NM_139027.6(ADAMTS13):c.415-1G>A	Upshaw-Schulman syndrome [RCV000826095]	likely pathogenic	9	133425937	133425937	Human	1	name
156301068	CV903334	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-7C>A	not provided [RCV002629249]	likely benign	9	133424314	133424314	Human		name
28875848	CV903335	single nucleotide variant	NM_139027.6(ADAMTS13):c.539+6C>T	Upshaw-Schulman syndrome [RCV001165961]\|not provided [RCV002557422]	uncertain significance	9	133426068	133426068	Human	1	name
28881107	CV903336	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+8C>T	Upshaw-Schulman syndrome [RCV001167528]	uncertain significance	9	133428779	133428779	Human	1	name
150510592	CV1211783	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-67T>C	not provided [RCV001597679]	benign	9	133424254	133424254	Human	1	name
150510592	CV1211783	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-67T>C	not provided [RCV001597679]	benign	9	133424254	133424255	Human	1	name
150498627	CV1235598	single nucleotide variant	NM_139027.6(ADAMTS13):c.987+69A>C	not provided [RCV001656281]	benign	9	133430170	133430170	Human		name
150478492	CV1257156	single nucleotide variant	NM_139027.6(ADAMTS13):c.331-42T>C	not provided [RCV001672386]	benign	9	133425487	133425487	Human		name
150468619	CV1267960	single nucleotide variant	NM_139027.6(ADAMTS13):c.1968+210=	not provided [RCV001694823]	benign	9	133440735	133440735	Human		name
150548099	CV1314134	single nucleotide variant	NM_139027.6(ADAMTS13):c.3724+1G>A	Upshaw-Schulman syndrome [RCV003990476]	likely pathogenic	9	133456720	133456720	Human	1	name
152170237	CV1650963	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+13C>G	not provided [RCV002143053]	likely benign	9	133424491	133424491	Human		name
155643217	CV1706606	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+4C>T	Inborn genetic diseases [RCV003101649]\|See cases [RCV002287681]\|not provided [RCV003097725]	likely benign\|uncertain significance	9	133455439	133455439	Human	1	name
155641295	CV1709611	single nucleotide variant	NM_139027.6(ADAMTS13):c.3401-3C>A	not provided [RCV002292711]	not provided	9	133456066	133456066	Human		name
156366215	CV1908497	single nucleotide variant	NM_139027.6(ADAMTS13):c.2105-8C>T	not provided [RCV002582082]	likely benign	9	133442606	133442606	Human		name
156441988	CV1941719	single nucleotide variant	NM_139027.6(ADAMTS13):c.1244+6G>A	not provided [RCV003112324]	uncertain significance	9	133433535	133433535	Human		name
156446098	CV1951181	single nucleotide variant	NM_139027.6(ADAMTS13):c.1786+6T>C	not provided [RCV003117062]	uncertain significance	9	133439452	133439452	Human		name
156252228	CV1963845	duplication	NM_139027.6(ADAMTS13):c.1436-3dup	not provided [RCV002576578]	likely benign	9	133437743	133437744	Human		name
156391923	CV1964962	single nucleotide variant	NM_139027.6(ADAMTS13):c.3724+8C>T	not provided [RCV002583952]	likely benign	9	133456727	133456727	Human		name
156354993	CV2005076	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-5G>A	not provided [RCV002675857]	likely benign	9	133440339	133440339	Human		name
156392394	CV2005918	single nucleotide variant	NM_139027.6(ADAMTS13):c.105+11T>C	not provided [RCV002680896]	likely benign	9	133422559	133422559	Human		name
156049340	CV2006657	single nucleotide variant	NM_139027.6(ADAMTS13):c.3909+9C>T	not provided [RCV002659312]	likely benign	9	133458103	133458103	Human		name
156025029	CV2020093	single nucleotide variant	NM_139027.6(ADAMTS13):c.105+20C>T	not provided [RCV002691183]	likely benign	9	133422568	133422568	Human		name
156240393	CV2028211	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-8C>T	not provided [RCV002745642]	likely benign	9	133445691	133445691	Human		name
156218261	CV2035565	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+7G>C	not provided [RCV002766889]	likely benign	9	133437904	133437904	Human		name
156006822	CV2042331	single nucleotide variant	NM_139027.6(ADAMTS13):c.2105-5C>T	not provided [RCV002794888]	likely benign	9	133442609	133442609	Human		name
155921208	CV2073714	single nucleotide variant	NM_139027.6(ADAMTS13):c.2861+1G>A	not provided [RCV002838326]	likely pathogenic	9	133448729	133448729	Human		name
8558941	CV20849	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+5G>A	Upshaw-Schulman syndrome [RCV000006166]\|not provided [RCV002512823]	pathogenic\|likely pathogenic\|uncertain significance	9	133437902	133437902	Human	1	name
155919699	CV2148813	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+8T>C	not provided [RCV002991839]	likely benign	9	133437905	133437905	Human		name
156296796	CV2149349	single nucleotide variant	NM_139027.6(ADAMTS13):c.3910-2A>G	not provided [RCV003010200]	uncertain significance	9	133458972	133458972	Human		name
155995922	CV2171591	single nucleotide variant	NM_139027.6(ADAMTS13):c.2732-7C>T	not provided [RCV003034544]	likely benign	9	133448592	133448592	Human		name
156004209	CV2179332	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-17C>T	not provided [RCV003034916]	likely benign	9	133428617	133428617	Human		name
156172311	CV2181227	single nucleotide variant	NM_139027.6(ADAMTS13):c.414+20T>A	not provided [RCV003057259]	likely benign	9	133425632	133425632	Human		name
329848854	CV2523603	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+1G>A	Upshaw-Schulman syndrome [RCV003225617]\|not provided [RCV003565638]	likely pathogenic	9	133438367	133438367	Human	1	name
11547458	CV253374	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-48G>A	not provided [RCV001668601]\|not specified [RCV000247780]	benign	9	133424273	133424273	Human		name
11544905	CV253375	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-18C>T	not provided [RCV001709559]\|not specified [RCV000244418]	benign	9	133424303	133424303	Human	3	name
11544905	CV253375	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-18C>T	not provided [RCV001709559]\|not specified [RCV000244418]	benign	9	133424303	133424304	Human	3	name
11548005	CV253378	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-33G>A	not provided [RCV004718155]\|not specified [RCV000248518]	benign	9	133426166	133426166	Human	2	name
11548005	CV253378	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-33G>A	not provided [RCV004718155]\|not specified [RCV000248518]	benign	9	133426166	133426167	Human	2	name
11551423	CV253382	single nucleotide variant	NM_139027.6(ADAMTS13):c.987+11C>T	Upshaw-Schulman syndrome [RCV000269275]\|not provided [RCV001668603]\|not specified [RCV000253027]	benign\|likely benign	9	133430112	133430112	Human	1	name
401913324	CV2803699	single nucleotide variant	NM_139027.6(ADAMTS13):c.1244+1G>C	ADAMTS13-related disorder [RCV003427824]	likely pathogenic	9	133433530	133433530	Human		name , trait , alternate_id
401961781	CV2844103	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+6C>T	Upshaw-Schulman syndrome [RCV005047624]\|not provided [RCV003481943]	uncertain significance	9	133437903	133437903	Human	1	name
405038845	CV2929787	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+10C>T	not provided [RCV003578948]	likely benign	9	133424488	133424488	Human		name
405235130	CV2972597	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+17G>A	not provided [RCV003682941]	likely benign	9	133426362	133426362	Human		name
405017092	CV2991586	single nucleotide variant	NM_139027.6(ADAMTS13):c.540-11C>G	not provided [RCV003694434]	likely benign	9	133426188	133426188	Human		name
405047952	CV3028964	single nucleotide variant	NM_139027.6(ADAMTS13):c.3724+1G>T	not provided [RCV003696795]	likely pathogenic	9	133456720	133456720	Human		name
405143795	CV3056196	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+7G>A	ADAMTS13-related disorder [RCV003919338]\|not provided [RCV003725877]	likely benign	9	133437904	133437904	Human	1	name , alternate_id
405220374	CV3059876	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+8C>T	not provided [RCV003733217]	likely benign	9	133432700	133432700	Human		name
405224553	CV3061479	single nucleotide variant	NM_139027.6(ADAMTS13):c.2732-5C>T	not provided [RCV003733733]	likely benign	9	133448594	133448594	Human		name
405148710	CV3063470	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-9C>T	not provided [RCV003726258]	likely benign	9	133440335	133440335	Human		name
11607209	CV307294	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-6C>T	Upshaw-Schulman syndrome [RCV000340502]\|not provided [RCV005055940]	likely benign\|uncertain significance	9	133440338	133440338	Human	1	name
11655233	CV307308	single nucleotide variant	NM_139027.6(ADAMTS13):c.2732-8C>T	Upshaw-Schulman syndrome [RCV000324399]	uncertain significance	9	133448591	133448591	Human	1	name
11606610	CV311565	single nucleotide variant	NM_139027.6(ADAMTS13):c.1245-3C>T	Upshaw-Schulman syndrome [RCV000333690]\|not provided [RCV002523747]\|not specified [RCV004689726]	likely benign\|uncertain significance	9	133433638	133433638	Human	2	name
11606610	CV311565	single nucleotide variant	NM_139027.6(ADAMTS13):c.1245-3C>T	Upshaw-Schulman syndrome [RCV000333690]\|not provided [RCV002523747]\|not specified [RCV004689726]	likely benign\|uncertain significance	9	133433638	133433639	Human	2	name
405211059	CV3117756	single nucleotide variant	NM_139027.6(ADAMTS13):c.988-11C>A	not provided [RCV003823355]	likely benign	9	133432577	133432577	Human		name
405207366	CV3120404	single nucleotide variant	NM_139027.6(ADAMTS13):c.988-10A>G	not provided [RCV003822738]	likely benign	9	133432578	133432578	Human		name
405170068	CV3122365	single nucleotide variant	NM_139027.6(ADAMTS13):c.987+13G>A	not provided [RCV003818954]\|not specified [RCV004527009]	likely benign	9	133430114	133430114	Human		name
402521671	CV3126944	single nucleotide variant	NM_139027.6(ADAMTS13):c.331-11C>T	not provided [RCV003824862]\|not specified [RCV004701840]	likely benign	9	133425518	133425518	Human		name
405220777	CV3157818	single nucleotide variant	NM_139027.6(ADAMTS13):c.415-20G>A	not provided [RCV003863510]	likely benign	9	133425918	133425918	Human		name
405234876	CV3168523	single nucleotide variant	NM_139027.6(ADAMTS13):c.414+18A>G	not provided [RCV003865997]	likely benign	9	133425630	133425630	Human		name
405200383	CV3168789	single nucleotide variant	NM_139027.6(ADAMTS13):c.987+12G>A	not provided [RCV003860727]	likely benign	9	133430113	133430113	Human		name
405213420	CV3169811	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+1G>A	not provided [RCV003862410]	likely pathogenic	9	133437898	133437898	Human		name
11608674	CV317083	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+12C>T	Upshaw-Schulman syndrome [RCV000358523]\|not provided [RCV002523746]	likely benign\|uncertain significance	9	133428783	133428783	Human	1	name
11600378	CV317091	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+13C>T	Upshaw-Schulman syndrome [RCV000273167]\|not provided [RCV001613224]	benign\|likely benign	9	133428784	133428784	Human	1	name
11662294	CV317098	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+8A>C	Upshaw-Schulman syndrome [RCV000384858]\|not provided [RCV003574765]	likely benign\|uncertain significance	9	133449973	133449973	Human	1	name
402471235	CV3175262	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548-9G>A	not provided [RCV003874194]	likely benign	9	133456534	133456534	Human		name
407457736	CV3416207	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+5G>A	not provided [RCV004599085]	likely benign	9	133455440	133455440	Human		name
408366152	CV3515338	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-7C>T	ADAMTS13-related disorder [RCV004755579]	likely benign	9	133445692	133445692	Human		name , trait , alternate_id
12849740	CV370801	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+1G>A	not provided [RCV000435056]	pathogenic\|likely pathogenic	9	133449966	133449966	Human		name
597686906	CV3729417	single nucleotide variant	NM_139027.6(ADAMTS13):c.824+14C>G	Upshaw-Schulman syndrome [RCV005045945]	uncertain significance	9	133428785	133428785	Human	1	name
597687097	CV3729447	single nucleotide variant	NM_139027.6(ADAMTS13):c.1435+4G>A	Upshaw-Schulman syndrome [RCV005045965]	uncertain significance	9	133436959	133436959	Human	1	name
597713835	CV3729449	single nucleotide variant	NM_139027.6(ADAMTS13):c.1436-7C>G	Upshaw-Schulman syndrome [RCV005048964]	uncertain significance	9	133437742	133437742	Human	1	name
597687149	CV3729455	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+9G>A	Upshaw-Schulman syndrome [RCV005045970]	uncertain significance	9	133437906	133437906	Human	1	name
597687211	CV3729461	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+6C>T	Upshaw-Schulman syndrome [RCV005045976]	uncertain significance	9	133438372	133438372	Human	1	name
597687228	CV3729463	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-1G>A	Upshaw-Schulman syndrome [RCV005045978]	likely pathogenic	9	133440343	133440343	Human	1	name
597687444	CV3729488	single nucleotide variant	NM_139027.6(ADAMTS13):c.2421-5C>T	Upshaw-Schulman syndrome [RCV005046000]	uncertain significance	9	133444858	133444858	Human	1	name
597687590	CV3729509	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+4A>G	Upshaw-Schulman syndrome [RCV005046015]	uncertain significance	9	133449969	133449969	Human	1	name
597920191	CV3738047	single nucleotide variant	NM_139027.6(ADAMTS13):c.330+13C>T	not provided [RCV005074646]	likely benign	9	133424491	133424491	Human		name
597841988	CV3752928	single nucleotide variant	NM_139027.6(ADAMTS13):c.2420+8C>T	not provided [RCV005086657]	likely benign	9	133443569	133443569	Human		name
597892332	CV3763125	single nucleotide variant	NM_139027.6(ADAMTS13):c.106-13T>C	not provided [RCV005110897]	likely benign	9	133423088	133423088	Human		name
597936934	CV3777751	single nucleotide variant	NM_139027.6(ADAMTS13):c.2104+1G>C	not provided [RCV005132664]	likely pathogenic	9	133442535	133442535	Human		name
597923560	CV3777879	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548-9G>C	not provided [RCV005130603]	likely benign	9	133456534	133456534	Human		name
597941884	CV3819403	single nucleotide variant	NM_139027.6(ADAMTS13):c.687-13G>A	not provided [RCV005159213]	likely benign	9	133428621	133428621	Human		name
597931078	CV3827051	single nucleotide variant	NM_139027.6(ADAMTS13):c.1706-4C>A	not provided [RCV005157064]	likely benign	9	133439362	133439362	Human		name
597915280	CV3845607	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+9G>T	not provided [RCV005183401]	likely benign	9	133437906	133437906	Human		name
13435548	CV432349	single nucleotide variant	NM_139027.6(ADAMTS13):c.1585-1G>C	Upshaw-Schulman syndrome [RCV000505577]	likely pathogenic	9	133438245	133438245	Human	1	name
15182818	CV730616	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-7C>T	not provided [RCV000886083]	benign	9	133440337	133440337	Human		name
15188042	CV777799	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+7G>A	ADAMTS13-related disorder [RCV003925989]\|Upshaw-Schulman syndrome [RCV002489319]\|not provided [RCV000953765]	benign\|likely benign	9	133438373	133438373	Human	1	name , alternate_id
28883477	CV903337	single nucleotide variant	NM_139027.6(ADAMTS13):c.1706-4C>T	Upshaw-Schulman syndrome [RCV001168221]	uncertain significance	9	133439362	133439362	Human	1	name
28883481	CV903338	single nucleotide variant	NM_139027.6(ADAMTS13):c.1706-3T>A	Upshaw-Schulman syndrome [RCV001168222]	uncertain significance	9	133439363	133439363	Human	1	name
28883485	CV903339	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-8C>G	Upshaw-Schulman syndrome [RCV001168223]	uncertain significance	9	133440336	133440336	Human	1	name
126911820	CV1037915	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+94G>A	Inborn genetic diseases [RCV002547617]\|not provided [RCV001355797]	likely benign\|uncertain significance	9	133455529	133455529	Human	1	name
127287245	CV1152401	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+24G>A	Inborn genetic diseases [RCV004037878]\|Upshaw-Schulman syndrome [RCV005050386]\|not provided [RCV001507773]	uncertain significance	9	133455459	133455459	Human	2	name
127287248	CV1152402	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+46G>A	Upshaw-Schulman syndrome [RCV005040298]\|not provided [RCV001507774]	uncertain significance	9	133455481	133455481	Human	1	name
150337506	CV1171931	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+156A>T	not provided [RCV001541696]	benign	9	133426501	133426501	Human		name
150334185	CV1171933	single nucleotide variant	NM_139027.6(ADAMTS13):c.1968+43T>C	not provided [RCV001539853]	benign	9	133440568	133440568	Human		name
150514442	CV1212010	deletion	NM_139027.6(ADAMTS13):c.106-144del	not provided [RCV001599079]	benign	9	133422935	133422935	Human		name
150447959	CV1216193	single nucleotide variant	NM_139027.6(ADAMTS13):c.686+129G>A	not provided [RCV001611491]	benign	9	133426474	133426474	Human		name
150430494	CV1243332	single nucleotide variant	NM_139027.6(ADAMTS13):c.825-170T>C	not provided [RCV001662949]	benign	9	133429769	133429769	Human		name
150484292	CV1249990	single nucleotide variant	NM_139027.6(ADAMTS13):c.987+313T>G	not provided [RCV001673602]	benign	9	133430414	133430414	Human		name
150490009	CV1250953	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-149A>G	not provided [RCV001674620]	benign	9	133424172	133424172	Human		name
150453720	CV1260557	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+67G>A	not provided [RCV001681049]	benign	9	133432759	133432759	Human		name
150441297	CV1265759	single nucleotide variant	NM_139027.6(ADAMTS13):c.2861+55C>T	not provided [RCV001690484]	benign	9	133448783	133448783	Human		name
150478681	CV1273335	single nucleotide variant	NM_139027.6(ADAMTS13):c.173-211C>G	not provided [RCV001696538]	benign	9	133424110	133424110	Human		name
150485867	CV1273944	single nucleotide variant	NM_139027.6(ADAMTS13):c.1968+92C>G	not provided [RCV001698823]	benign	9	133440617	133440617	Human		name
152144414	CV1576416	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+14C>T	Upshaw-Schulman syndrome [RCV002499951]\|not provided [RCV002101238]	benign\|likely benign	9	133438380	133438380	Human	1	name
152057193	CV1618852	single nucleotide variant	NM_139027.6(ADAMTS13):c.1786+16G>A	Upshaw-Schulman syndrome [RCV002494402]\|not provided [RCV002127923]	benign\|likely benign	9	133439462	133439462	Human	1	name
152166279	CV1620871	single nucleotide variant	NM_139027.6(ADAMTS13):c.1309-20C>G	Upshaw-Schulman syndrome [RCV002500407]\|not provided [RCV002181901]	likely benign	9	133436809	133436809	Human	1	name
152057518	CV1651830	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-19T>C	not provided [RCV002190141]	benign	9	133445680	133445680	Human		name
153303758	CV1686449	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+93C>T	Upshaw-Schulman syndrome [RCV002488655]\|not provided [RCV002261883]	uncertain significance	9	133455528	133455528	Human	1	name
155266052	CV1696177	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-20C>T	Thrombus [RCV002280951]	uncertain significance	9	133449763	133449763	Human	1	name
156279851	CV1954847	single nucleotide variant	NM_139027.6(ADAMTS13):c.3401-18C>T	not provided [RCV002577443]	likely benign	9	133456051	133456051	Human		name
156267922	CV1957061	single nucleotide variant	NM_139027.6(ADAMTS13):c.3250-12C>T	not provided [RCV002577067]	benign	9	133455273	133455273	Human		name
156375665	CV1960228	single nucleotide variant	NM_139027.6(ADAMTS13):c.3249+20G>A	not provided [RCV002582779]	likely benign	9	133454639	133454639	Human		name
156313597	CV1966542	single nucleotide variant	NM_139027.6(ADAMTS13):c.3910-13C>T	not provided [RCV002578828]	likely benign	9	133458961	133458961	Human		name
156335063	CV1966798	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+20G>T	not provided [RCV002600988]	likely benign	9	133432712	133432712	Human		name
156353790	CV1974865	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+13G>A	not provided [RCV002602017]	likely benign	9	133445832	133445832	Human		name
156352155	CV1985714	single nucleotide variant	NM_139027.6(ADAMTS13):c.3249+19C>T	not provided [RCV002632055]	likely benign	9	133454638	133454638	Human		name
156239022	CV1996277	single nucleotide variant	NM_139027.6(ADAMTS13):c.3249+11C>A	not provided [RCV002667862]	likely benign	9	133454630	133454630	Human		name
156099337	CV2004838	single nucleotide variant	NM_139027.6(ADAMTS13):c.1093-16C>T	not provided [RCV002639521]	likely benign	9	133433362	133433362	Human		name
156032687	CV2037040	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+16C>G	not provided [RCV002781175]	benign	9	133438382	133438382	Human		name
156042168	CV2044131	single nucleotide variant	NM_139027.6(ADAMTS13):c.2234+17C>A	not provided [RCV002781532]\|not specified [RCV003403917]	likely benign	9	133442760	133442760	Human		name
156017873	CV2044229	single nucleotide variant	NM_139027.6(ADAMTS13):c.1308+17G>T	not provided [RCV002795440]	benign	9	133433721	133433721	Human		name
156017900	CV2044230	single nucleotide variant	NM_139027.6(ADAMTS13):c.2732-20T>G	not provided [RCV002795441]	benign	9	133448579	133448579	Human		name
156218843	CV2047786	single nucleotide variant	NM_139027.6(ADAMTS13):c.2234+20C>T	not provided [RCV002790553]	likely benign	9	133442763	133442763	Human		name
156326259	CV2054149	single nucleotide variant	NM_139027.6(ADAMTS13):c.1968+14C>G	not provided [RCV002810411]	likely benign	9	133440539	133440539	Human		name
156294173	CV2065222	single nucleotide variant	NM_139027.6(ADAMTS13):c.2421-19T>A	not provided [RCV002856873]	likely benign	9	133444844	133444844	Human		name
156187496	CV2165652	single nucleotide variant	NM_139027.6(ADAMTS13):c.3724+12C>A	not provided [RCV003041547]	likely benign	9	133456731	133456731	Human		name
156216738	CV2253800	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+57A>G	Inborn genetic diseases [RCV002804454]	likely benign	9	133455492	133455492	Human	1	name
11544742	CV253387	single nucleotide variant	NM_139027.6(ADAMTS13):c.2105-24C>G	not specified [RCV000244192]	likely benign	9	133442590	133442590	Human		name
11549015	CV253393	single nucleotide variant	NM_139027.6(ADAMTS13):c.3045-48T>C	not provided [RCV004718154]\|not specified [RCV000249858]	benign	9	133454367	133454367	Human		name
11545258	CV253394	single nucleotide variant	NM_139027.6(ADAMTS13):c.3045-41G>A	not provided [RCV004718153]\|not specified [RCV000244889]	benign	9	133454374	133454374	Human		name
11543816	CV253398	single nucleotide variant	NM_139027.6(ADAMTS13):c.3250-19T>C	not provided [RCV002058396]\|not specified [RCV000242967]	benign	9	133455266	133455266	Human		name
11550921	CV253401	single nucleotide variant	NM_139027.6(ADAMTS13):c.3909+32T>C	not provided [RCV001640578]\|not specified [RCV000252375]	benign\|likely benign	9	133458126	133458126	Human		name
404977923	CV2851871	single nucleotide variant	NM_139027.6(ADAMTS13):c.3401-40C>T	Upshaw-Schulman syndrome [RCV003486357]	uncertain significance	9	133456029	133456029	Human	1	name
402525069	CV2868254	single nucleotide variant	NM_139027.6(ADAMTS13):c.2234+10G>A	not provided [RCV003547964]	likely benign	9	133442753	133442753	Human		name
405201927	CV2918787	single nucleotide variant	NM_139027.6(ADAMTS13):c.3045-11T>C	not provided [RCV003566028]	likely benign	9	133454404	133454404	Human		name
405101556	CV2944814	single nucleotide variant	NM_139027.6(ADAMTS13):c.1706-17T>C	not provided [RCV003666198]	likely benign	9	133439349	133439349	Human		name
405091852	CV2946987	single nucleotide variant	NM_139027.6(ADAMTS13):c.1969-14C>T	not provided [RCV003665337]	likely benign	9	133442385	133442385	Human		name
405116057	CV2951658	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+17G>A	not provided [RCV003670960]	likely benign	9	133455452	133455452	Human		name
405228549	CV2973723	single nucleotide variant	NM_139027.6(ADAMTS13):c.2421-14C>T	not provided [RCV003681859]	likely benign	9	133444849	133444849	Human		name
405190721	CV2987967	single nucleotide variant	NM_139027.6(ADAMTS13):c.1969-19T>C	not provided [RCV003706371]	likely benign	9	133442380	133442380	Human		name
405124483	CV3021037	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548-12G>A	not provided [RCV003701006]	likely benign	9	133456531	133456531	Human		name
405057484	CV3023393	single nucleotide variant	NM_139027.6(ADAMTS13):c.2105-17T>G	not provided [RCV003697391]	likely benign	9	133442597	133442597	Human		name
405125613	CV3031199	single nucleotide variant	NM_139027.6(ADAMTS13):c.3401-15C>G	not provided [RCV003701205]	likely benign	9	133456054	133456054	Human		name
405204437	CV3033500	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+13G>A	not provided [RCV003707820]	likely benign	9	133449978	133449978	Human		name
402509516	CV3034172	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+11C>A	not provided [RCV003715459]	likely benign	9	133445830	133445830	Human		name
405220170	CV3035158	single nucleotide variant	NM_139027.6(ADAMTS13):c.3909+15G>A	not provided [RCV003709802]	likely benign	9	133458109	133458109	Human		name
405116782	CV3115902	single nucleotide variant	NM_139027.6(ADAMTS13):c.1786+19T>G	not provided [RCV003814392]	likely benign	9	133439465	133439465	Human		name
11602389	CV311604	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+10C>T	Upshaw-Schulman syndrome [RCV000290578]\|not provided [RCV003727721]	likely benign\|uncertain significance	9	133449975	133449975	Human	1	name
405121416	CV3116543	single nucleotide variant	NM_139027.6(ADAMTS13):c.3909+16G>A	not provided [RCV003814844]	likely benign	9	133458110	133458110	Human		name
405112133	CV3118572	single nucleotide variant	NM_139027.6(ADAMTS13):c.2235-20C>T	not provided [RCV003813800]	likely benign	9	133443356	133443356	Human		name
404981148	CV3121110	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-15C>T	not provided [RCV003826102]	likely benign	9	133440329	133440329	Human		name
405087280	CV3122068	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+14G>C	not provided [RCV003810823]	likely benign	9	133445833	133445833	Human		name
405137805	CV3125404	single nucleotide variant	NM_139027.6(ADAMTS13):c.2235-19G>A	not provided [RCV003816511]	likely benign	9	133443357	133443357	Human		name
405194586	CV3128599	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548-19C>G	not provided [RCV003821336]	likely benign	9	133456524	133456524	Human		name
405199230	CV3128803	duplication	NM_139027.6(ADAMTS13):c.1308+19dup	not provided [RCV003821846]	benign	9	133433719	133433720	Human		name
405202528	CV3129326	single nucleotide variant	NM_139027.6(ADAMTS13):c.1244+15G>T	not provided [RCV003822179]	likely benign	9	133433544	133433544	Human		name
405214061	CV3143077	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-12A>T	not provided [RCV003846240]	likely benign	9	133449771	133449771	Human		name
405232849	CV3144955	single nucleotide variant	NM_139027.6(ADAMTS13):c.3725-15A>G	not provided [RCV003853212]	likely benign	9	133457895	133457895	Human		name
405179950	CV3147416	single nucleotide variant	NM_139027.6(ADAMTS13):c.2610+16A>G	not provided [RCV003842318]	likely benign	9	133445068	133445068	Human		name
405172993	CV3150423	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-11A>G	not provided [RCV003841697]	likely benign	9	133445688	133445688	Human		name
405246042	CV3162200	single nucleotide variant	NM_139027.6(ADAMTS13):c.3250-15C>G	not provided [RCV003868719]	likely benign	9	133455270	133455270	Human		name
405155791	CV3163440	single nucleotide variant	NM_139027.6(ADAMTS13):c.3909+18G>T	not provided [RCV003856686]	likely benign	9	133458112	133458112	Human		name
405158070	CV3163556	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+11C>T	not provided [RCV003856802]	likely benign	9	133449976	133449976	Human		name
405235423	CV3168640	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+15T>C	not provided [RCV003866114]	likely benign	9	133432707	133432707	Human		name
11610297	CV317535	single nucleotide variant	NM_139027.6(ADAMTS13):c.1435+11C>T	Upshaw-Schulman syndrome [RCV000379918]\|not provided [RCV002523748]	likely benign\|uncertain significance	9	133436966	133436966	Human	1	name
11604696	CV317554	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+17G>T	Upshaw-Schulman syndrome [RCV000312147]\|not provided [RCV002523751]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133455452	133455452	Human	1	name
405686132	CV3306884	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+51A>G	Inborn genetic diseases [RCV004444434]\|Upshaw-Schulman syndrome [RCV005040668]	uncertain significance	9	133455486	133455486	Human	2	name
405854292	CV3392959	single nucleotide variant	NM_139027.6(ADAMTS13):c.3250-13C>T	not specified [RCV004527116]	likely benign	9	133455272	133455272	Human		name
596941833	CV3543794	single nucleotide variant	NM_139027.6(ADAMTS13):c.1093-11T>A	not provided [RCV004799782]	uncertain significance	9	133433367	133433367	Human		name
597687656	CV3726057	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+33G>A	Upshaw-Schulman syndrome [RCV005046022]	uncertain significance	9	133455468	133455468	Human	1	name
597687010	CV3729431	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+16G>A	Upshaw-Schulman syndrome [RCV005045956]	uncertain significance	9	133432708	133432708	Human	1	name
597687219	CV3729462	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+17G>A	Upshaw-Schulman syndrome [RCV005045977]	uncertain significance	9	133438383	133438383	Human	1	name
597687533	CV3729501	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-19T>C	Upshaw-Schulman syndrome [RCV005046009]	uncertain significance	9	133449764	133449764	Human	1	name
597830653	CV3743191	single nucleotide variant	NM_139027.6(ADAMTS13):c.3724+12C>G	not provided [RCV005062199]	likely benign	9	133456731	133456731	Human		name
597858038	CV3748224	single nucleotide variant	NM_139027.6(ADAMTS13):c.1435+12G>A	not provided [RCV005067046]	likely benign	9	133436967	133436967	Human		name
597970844	CV3750547	single nucleotide variant	NM_139027.6(ADAMTS13):c.1309-17T>C	not provided [RCV005084291]	likely benign	9	133436812	133436812	Human		name
597965861	CV3751216	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+18G>A	not provided [RCV005082778]	likely benign	9	133445837	133445837	Human		name
597962463	CV3753711	single nucleotide variant	NM_139027.6(ADAMTS13):c.1435+17G>A	not provided [RCV005082015]	likely benign	9	133436972	133436972	Human		name
597839926	CV3756003	single nucleotide variant	NM_139027.6(ADAMTS13):c.3249+11C>T	not provided [RCV005086275]	likely benign	9	133454630	133454630	Human		name
597930427	CV3789328	single nucleotide variant	NM_139027.6(ADAMTS13):c.2105-16C>A	not provided [RCV005131609]	likely benign	9	133442598	133442598	Human		name
597913407	CV3817415	single nucleotide variant	NM_139027.6(ADAMTS13):c.3044+12G>A	not provided [RCV005154617]	likely benign	9	133449977	133449977	Human		name
597861707	CV3822545	single nucleotide variant	NM_139027.6(ADAMTS13):c.1308+10C>T	not provided [RCV005175075]	likely benign	9	133433714	133433714	Human		name
597965471	CV3823516	single nucleotide variant	NM_139027.6(ADAMTS13):c.1308+11T>C	not provided [RCV005164936]	likely benign	9	133433715	133433715	Human		name
597926422	CV3836807	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548-10C>T	not provided [RCV005185158]	benign	9	133456533	133456533	Human		name
15177784	CV736983	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+45C>T	ADAMTS13-related disorder [RCV003968333]\|Upshaw-Schulman syndrome [RCV001168363]\|not provided [RCV000906729]	likely benign	9	133455480	133455480	Human	1	name , alternate_id
21403986	CV800877	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+77G>A	Three Vessel Coronary Disease [RCV001003435]\|not provided [RCV001644894]	benign	9	133445896	133445896	Human	2	name
21403986	CV800877	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+77G>A	Three Vessel Coronary Disease [RCV001003435]\|not provided [RCV001644894]	benign	9	133445896	133445897	Human	2	name
28883962	CV901363	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+19C>T	Upshaw-Schulman syndrome [RCV001168360]\|not provided [RCV002558665]	uncertain significance	9	133455454	133455454	Human	1	name
28883967	CV901364	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+23C>T	Upshaw-Schulman syndrome [RCV001168361]\|not provided [RCV002559614]	benign\|uncertain significance	9	133455458	133455458	Human	1	name
28883973	CV901365	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+32C>T	Upshaw-Schulman syndrome [RCV001168362]\|not provided [RCV003769819]	likely benign\|uncertain significance	9	133455467	133455467	Human	1	name
150333324	CV1169318	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-262T>A	not provided [RCV001537278]	benign	9	133445437	133445437	Human		name
150334774	CV1171934	single nucleotide variant	NM_139027.6(ADAMTS13):c.2420+114C>G	not provided [RCV001540232]	benign	9	133443675	133443675	Human	2	name
150331836	CV1171935	single nucleotide variant	NM_139027.6(ADAMTS13):c.3910-270A>T	not provided [RCV001538796]	benign	9	133458704	133458704	Human		name
150514392	CV1211985	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787-190A>G	not provided [RCV001599054]	benign	9	133440154	133440154	Human		name
150501102	CV1213285	single nucleotide variant	NM_139027.6(ADAMTS13):c.1706-255G>C	not provided [RCV001594697]	benign	9	133439111	133439111	Human		name
150505365	CV1213511	single nucleotide variant	NM_139027.6(ADAMTS13):c.2235-163A>G	not provided [RCV001595767]	benign	9	133443213	133443213	Human		name
150450409	CV1215243	single nucleotide variant	NM_139027.6(ADAMTS13):c.1309-204G>A	not provided [RCV001611833]	benign	9	133436625	133436625	Human		name
150515103	CV1217381	single nucleotide variant	NM_139027.6(ADAMTS13):c.1786+161G>C	not provided [RCV001608285]	benign	9	133439607	133439607	Human		name
150516031	CV1227747	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+298G>A	not provided [RCV001639022]	benign	9	133438664	133438664	Human	1	name
150516031	CV1227747	single nucleotide variant	NM_139027.6(ADAMTS13):c.1705+298G>A	not provided [RCV001639022]	benign	9	133438664	133438665	Human	1	name
150499669	CV1235768	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+283G>A	not provided [RCV001656451]	benign	9	133432975	133432975	Human		name
150499708	CV1235776	single nucleotide variant	NM_139027.6(ADAMTS13):c.2611-147G>A	not provided [RCV001656459]	benign	9	133445552	133445552	Human		name
150458179	CV1237179	single nucleotide variant	NM_139027.6(ADAMTS13):c.2421-217A>C	not provided [RCV001648858]	benign	9	133444646	133444646	Human		name
150493821	CV1238745	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-227C>G	not provided [RCV001655289]	benign	9	133449556	133449556	Human	3	name
150479756	CV1239439	single nucleotide variant	NM_139027.6(ADAMTS13):c.1585-113T>C	not provided [RCV001652602]	benign	9	133438133	133438133	Human		name
150458033	CV1248872	single nucleotide variant	NM_139027.6(ADAMTS13):c.1436-272C>T	not provided [RCV001669048]	benign	9	133437477	133437477	Human	1	name
150458033	CV1248872	single nucleotide variant	NM_139027.6(ADAMTS13):c.1436-272C>T	not provided [RCV001669048]	benign	9	133437477	133437478	Human	1	name
150475968	CV1251793	single nucleotide variant	NM_139027.6(ADAMTS13):c.2421-143A>T	not provided [RCV001671991]	benign	9	133444720	133444720	Human		name
150451338	CV1261533	single nucleotide variant	NM_139027.6(ADAMTS13):c.1092+319T>G	not provided [RCV001680735]	benign	9	133433011	133433011	Human	1	name
150487053	CV1262676	single nucleotide variant	NM_139027.6(ADAMTS13):c.3910-251G>C	not provided [RCV001687073]	benign	9	133458723	133458723	Human		name
150483578	CV1263013	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-272G>C	not provided [RCV001686413]	benign	9	133449511	133449511	Human	7	name
150483578	CV1263013	single nucleotide variant	NM_139027.6(ADAMTS13):c.2862-272G>C	not provided [RCV001686413]	benign	9	133449511	133449512	Human	7	name
150474086	CV1263304	single nucleotide variant	NM_139027.6(ADAMTS13):c.1584+106C>G	not provided [RCV001684826]	benign	9	133438003	133438003	Human		name
150443207	CV1264563	single nucleotide variant	NM_139027.6(ADAMTS13):c.1435+133G>A	not provided [RCV001679547]	benign	9	133437088	133437088	Human		name
150498177	CV1271466	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+232C>T	not provided [RCV001689156]	benign	9	133446051	133446051	Human		name
150496590	CV1271571	single nucleotide variant	NM_139027.6(ADAMTS13):c.3045-249G>C	not provided [RCV001688871]	benign	9	133454166	133454166	Human		name
150495793	CV1272720	single nucleotide variant	NM_139027.6(ADAMTS13):c.1308+252C>T	not provided [RCV001688643]	benign	9	133433956	133433956	Human		name
150511994	CV1284836	single nucleotide variant	NM_139027.6(ADAMTS13):c.1969-112A>G	not provided [RCV001721705]	benign	9	133442287	133442287	Human		name
156403901	CV1898053	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+126C>T	Inborn genetic diseases [RCV004978630]\|Upshaw-Schulman syndrome [RCV005045310]\|not provided [RCV002585301]	uncertain significance	9	133455561	133455561	Human	2	name
156418948	CV1919039	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+112C>T	not provided [RCV002612159]	benign	9	133455547	133455547	Human		name
156447190	CV1944833	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+125T>C	not provided [RCV003118717]	likely benign	9	133455560	133455560	Human		name
156333613	CV1954276	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+176C>T	not provided [RCV002580134]	likely benign	9	133455611	133455611	Human		name
156065684	CV2096613	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+129C>A	not provided [RCV002886652]	likely benign	9	133455564	133455564	Human		name
156138815	CV2116465	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+113G>A	not provided [RCV002914828]	likely benign	9	133455548	133455548	Human		name
156303682	CV2129636	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+111C>T	Inborn genetic diseases [RCV004973779]\|not provided [RCV002962260]	likely benign\|uncertain significance	9	133455546	133455546	Human	1	name
401961788	CV2844110	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+109C>A	not provided [RCV003481950]	uncertain significance	9	133455544	133455544	Human		name
402506651	CV2880777	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+101G>T	not provided [RCV003546430]	likely benign	9	133455536	133455536	Human		name
405225151	CV2881922	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+129C>T	not provided [RCV003554528]	likely benign	9	133455564	133455564	Human		name
405223712	CV3035819	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+122G>A	not provided [RCV003710348]	likely benign	9	133455557	133455557	Human		name
597687665	CV3726059	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+106T>C	Upshaw-Schulman syndrome [RCV005046023]	uncertain significance	9	133455541	133455541	Human	1	name
597687671	CV3726060	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+130G>A	Upshaw-Schulman syndrome [RCV005046024]	uncertain significance	9	133455565	133455565	Human	1	name
597687684	CV3726061	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+149G>T	Upshaw-Schulman syndrome [RCV005046025]	uncertain significance	9	133455584	133455584	Human	1	name
597687704	CV3726063	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+160T>C	Upshaw-Schulman syndrome [RCV005046027]	uncertain significance	9	133455595	133455595	Human	1	name
12858995	CV389201	deletion	NM_139027.6(ADAMTS13):c.3400+143del	Upshaw-Schulman syndrome [RCV000454327]	likely pathogenic	9	133455576	133455576	Human	1	name
13786209	CV550300	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+141G>A	Thrombotic thrombocytopenic purpura [RCV000677302]\|Upshaw-Schulman syndrome [RCV001169110]\|not provided [RCV000960911]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	9	133455576	133455576	Human	1	name
21403984	CV800876	single nucleotide variant	NM_139027.6(ADAMTS13):c.1436-186T>C	Three Vessel Coronary Disease [RCV001003433]\|not provided [RCV001619879]	benign	9	133437563	133437563	Human	1	name
21403985	CV800878	single nucleotide variant	NM_139027.6(ADAMTS13):c.2731+739G>T	Three Vessel Coronary Disease [RCV001003434]	benign	9	133446558	133446558	Human	1	name
21403987	CV800879	single nucleotide variant	NM_139027.6(ADAMTS13):c.3910-342A>G	Three Vessel Coronary Disease [RCV001003436]	benign	9	133458632	133458632	Human	1	name
28886610	CV901366	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+136T>A	Inborn genetic diseases [RCV005306297]\|Upshaw-Schulman syndrome [RCV001169109]	uncertain significance	9	133455571	133455571	Human	2	name
40903131	CV976762	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+175T>G	Abnormal bleeding [RCV001270502]	uncertain significance	9	133455610	133455610	Human	2	name
405084500	CV2865803	deletion	NM_139027.6(ADAMTS13):c.687-144_729del	not provided [RCV003549470]	likely pathogenic	9	133428485	133428671	Human		name
155937122	CV2114260	deletion	NM_139027.6(ADAMTS13):c.173-14_173-3del	not provided [RCV002904216]	uncertain significance	9	133424303	133424314	Human		name
28882991	CV901333	single nucleotide variant	NM_139027.6(ADAMTS13):c.15C>T (p.His5=)	Upshaw-Schulman syndrome [RCV001168075]\|not provided [RCV002559608]	likely benign\|uncertain significance	9	133422458	133422458	Human	1	name
405238428	CV2970006	duplication	NM_139027.6(ADAMTS13):c.22dup (p.Ala8fs)	not provided [RCV003683384]	pathogenic\|likely pathogenic	9	133422462	133422463	Human		name
597713822	CV3729442	deletion	NM_139027.6(ADAMTS13):c.1308+2_1308+5del	Upshaw-Schulman syndrome [RCV005048963]	likely pathogenic	9	133433703	133433706	Human	1	name
14703098	CV654535	variation	NM_139027.6(ADAMTS13):c.420= (p.Ala140=)	not provided [RCV001712791]\|not specified [RCV000825050]	benign	9	133425943	133425943	Human		name
156416560	CV1901466	single nucleotide variant	NM_139027.6(ADAMTS13):c.10C>T (p.Arg4Cys)	not provided [RCV002610239]	uncertain significance	9	133422453	133422453	Human		name
156377619	CV2000485	single nucleotide variant	NM_139027.6(ADAMTS13):c.20G>A (p.Arg7Gln)	not provided [RCV002653417]	uncertain significance	9	133422463	133422463	Human		name
156219124	CV2132746	single nucleotide variant	NM_139027.6(ADAMTS13):c.135C>T (p.Ala45=)	ADAMTS13-related disorder [RCV003916701]\|not provided [RCV003007307]	likely benign	9	133423130	133423130	Human	1	name , alternate_id
11550793	CV253373	single nucleotide variant	NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp)	Upshaw-Schulman syndrome [RCV000350481]\|not provided [RCV001711741]\|not specified [RCV000252211]	benign\|likely benign	9	133422462	133422462	Human	1	name
405207344	CV3064545	single nucleotide variant	NM_139027.6(ADAMTS13):c.297C>T (p.Asp99=)	not provided [RCV003731505]	likely benign	9	133424445	133424445	Human		name
405203566	CV3165226	single nucleotide variant	NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)	Upshaw-Schulman syndrome [RCV005040583]\|not provided [RCV003861087]	likely benign\|uncertain significance	9	133424418	133424418	Human	1	name
405233138	CV3167981	microsatellite	NM_139027.6(ADAMTS13):c.3725-16_3725-9del	not provided [RCV003865649]	likely benign	9	133457884	133457891	Human		name
596932475	CV3539095	single nucleotide variant	NM_139027.6(ADAMTS13):c.16C>T (p.Pro6Ser)	Upshaw-Schulman syndrome [RCV005051487]\|not provided [RCV004793221]	uncertain significance	9	133422459	133422459	Human	1	name
597686766	CV3729399	single nucleotide variant	NM_139027.6(ADAMTS13):c.264G>A (p.Val88=)	Upshaw-Schulman syndrome [RCV005045931]	uncertain significance	9	133424412	133424412	Human	1	name
597892820	CV3743887	single nucleotide variant	NM_139027.6(ADAMTS13):c.225T>C (p.Ala75=)	not provided [RCV005071357]	likely benign	9	133424373	133424373	Human		name
597932118	CV3837974	single nucleotide variant	NM_139027.6(ADAMTS13):c.261C>T (p.Ala87=)	not provided [RCV005185943]	likely benign	9	133424409	133424409	Human		name
28883001	CV901335	single nucleotide variant	NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)	Upshaw-Schulman syndrome [RCV001168077]\|not provided [RCV003727933]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133424379	133424379	Human	1	name
150501770	CV901346	variation	NM_139027.6(ADAMTS13):c.1716= (p.Thr572=)	not provided [RCV001656923]	benign	9	133439376	133439376	Human		name
150448319	CV901352	variation	NM_139027.6(ADAMTS13):c.2280= (p.Gly760=)	not provided [RCV001691581]	benign	9	133443421	133443421	Human		name
150477718	CV1252056	deletion	NM_139027.6(ADAMTS13):c.106-145_106-144del	not provided [RCV001672256]	benign	9	133422935	133422936	Human		name
151830919	CV1358968	single nucleotide variant	NM_139027.6(ADAMTS13):c.330C>T (p.Ile110=)	not provided [RCV001993705]	uncertain significance	9	133424478	133424478	Human		name
152110994	CV1564157	single nucleotide variant	NM_139027.6(ADAMTS13):c.501G>A (p.Thr167=)	not provided [RCV002174332]	likely benign	9	133426024	133426024	Human		name
152157030	CV1668898	single nucleotide variant	NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)	Upshaw-Schulman syndrome [RCV002223117]	likely pathogenic	9	133422527	133422527	Human	1	name
155268310	CV1701729	single nucleotide variant	NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)	Upshaw-Schulman syndrome [RCV002283959]	pathogenic	9	133422528	133422528	Human	1	name
156285257	CV1904384	single nucleotide variant	NM_139027.6(ADAMTS13):c.720C>T (p.Ser240=)	not provided [RCV002598533]	likely benign	9	133428667	133428667	Human		name
156252678	CV1984929	single nucleotide variant	NM_139027.6(ADAMTS13):c.693C>T (p.Gly231=)	not provided [RCV002645948]	likely benign	9	133428640	133428640	Human		name
155923699	CV1991508	single nucleotide variant	NM_139027.6(ADAMTS13):c.34C>T (p.Pro12Ser)	not provided [RCV002614673]	uncertain significance	9	133422477	133422477	Human		name
156152710	CV2023128	single nucleotide variant	NM_139027.6(ADAMTS13):c.732C>T (p.Pro244=)	not provided [RCV002741275]	likely benign	9	133428679	133428679	Human		name
155994892	CV2375757	single nucleotide variant	NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)	Inborn genetic diseases [RCV002689537]\|Upshaw-Schulman syndrome [RCV005052022]\|not specified [RCV004801307]	likely benign\|uncertain significance	9	133422501	133422501	Human	2	name
11551302	CV253376	single nucleotide variant	NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=)	Upshaw-Schulman syndrome [RCV000406635]\|not provided [RCV001651271]\|not specified [RCV000252860]	benign\|likely benign	9	133425552	133425552	Human	3	name
11551302	CV253376	single nucleotide variant	NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=)	Upshaw-Schulman syndrome [RCV000406635]\|not provided [RCV001651271]\|not specified [RCV000252860]	benign\|likely benign	9	133425552	133425553	Human	3	name
11543411	CV253377	single nucleotide variant	NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=)	Upshaw-Schulman syndrome [RCV001168843]\|not provided [RCV000950743]\|not specified [RCV000242420]	benign	9	133425555	133425555	Human	1	name
11550529	CV253379	single nucleotide variant	NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=)	Upshaw-Schulman syndrome [RCV000297875]\|not provided [RCV001698663]\|not specified [RCV000251872]	benign\|likely benign	9	133426241	133426241	Human	2	name
11550529	CV253379	single nucleotide variant	NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=)	Upshaw-Schulman syndrome [RCV000297875]\|not provided [RCV001698663]\|not specified [RCV000251872]	benign\|likely benign	9	133426241	133426242	Human	2	name
11547670	CV253381	single nucleotide variant	NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=)	Upshaw-Schulman syndrome [RCV000364006]\|not provided [RCV000972466]\|not specified [RCV000248070]	benign\|likely benign	9	133430050	133430050	Human	1	name
401868101	CV2749077	single nucleotide variant	NM_139027.6(ADAMTS13):c.627C>G (p.Leu209=)	not provided [RCV003720849]\|not specified [RCV003331903]	likely benign	9	133426286	133426286	Human		name
401964354	CV2843652	single nucleotide variant	NM_139027.6(ADAMTS13):c.373C>A (p.Arg125=)	not specified [RCV003479995]	likely benign	9	133425571	133425571	Human		name
405000113	CV2852389	deletion	NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)	Thrombotic thrombocytopenic purpura [RCV003493333]	pathogenic	9	133423148	133423148	Human	1	name
402498434	CV2871862	single nucleotide variant	NM_139027.6(ADAMTS13):c.945C>T (p.Phe315=)	not provided [RCV003545655]	likely benign	9	133430059	133430059	Human		name
405137615	CV3048591	single nucleotide variant	NM_139027.6(ADAMTS13):c.903T>C (p.Pro301=)	ADAMTS13-related disorder [RCV003901317]\|not provided [RCV003725369]	likely benign	9	133430017	133430017	Human	1	name , alternate_id
405204260	CV3058002	single nucleotide variant	NM_139027.6(ADAMTS13):c.837G>A (p.Ala279=)	not provided [RCV003731129]	likely benign	9	133429951	133429951	Human		name
402525368	CV3123697	single nucleotide variant	NM_139027.6(ADAMTS13):c.972C>T (p.Phe324=)	not provided [RCV003825123]	likely benign	9	133430086	133430086	Human		name
404989757	CV3131935	single nucleotide variant	NM_139027.6(ADAMTS13):c.49G>A (p.Gly17Arg)	not provided [RCV003827063]	uncertain significance	9	133422492	133422492	Human		name
405113228	CV3133718	single nucleotide variant	NM_139027.6(ADAMTS13):c.780C>T (p.Leu260=)	not provided [RCV003836511]	likely benign	9	133428727	133428727	Human		name
405181357	CV3147556	single nucleotide variant	NM_139027.6(ADAMTS13):c.351C>T (p.Asp117=)	not provided [RCV003842458]	likely benign	9	133425549	133425549	Human		name
405207568	CV3149308	single nucleotide variant	NM_139027.6(ADAMTS13):c.447G>A (p.Ser149=)	not provided [RCV003845218]	likely benign	9	133425970	133425970	Human		name
405160567	CV3152997	single nucleotide variant	NM_139027.6(ADAMTS13):c.633C>T (p.Thr211=)	not provided [RCV003840732]	likely benign	9	133426292	133426292	Human		name
405203810	CV3165259	single nucleotide variant	NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)	Upshaw-Schulman syndrome [RCV005040584]\|not provided [RCV003861120]	uncertain significance	9	133422498	133422498	Human	1	name
11604405	CV317533	single nucleotide variant	NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=)	Upshaw-Schulman syndrome [RCV000309287]\|not provided [RCV003718228]	likely benign\|uncertain significance	9	133429984	133429984	Human	1	name
405277465	CV3195832	single nucleotide variant	NM_139027.6(ADAMTS13):c.459C>T (p.Ser153=)	ADAMTS13-related disorder [RCV003904361]	likely benign	9	133425982	133425982	Human		name , trait , alternate_id
405279876	CV3200181	single nucleotide variant	NM_139027.6(ADAMTS13):c.435C>A (p.Ala145=)	ADAMTS13-related disorder [RCV003977108]	likely benign	9	133425958	133425958	Human		name , trait , alternate_id
597686732	CV3729390	single nucleotide variant	NM_139027.6(ADAMTS13):c.41G>C (p.Cys14Ser)	Upshaw-Schulman syndrome [RCV005045927]	uncertain significance	9	133422484	133422484	Human	1	name
597713728	CV3729403	single nucleotide variant	NM_139027.6(ADAMTS13):c.360G>A (p.Leu120=)	Upshaw-Schulman syndrome [RCV005048955]	uncertain significance	9	133425558	133425558	Human	1	name
597686888	CV3729415	single nucleotide variant	NM_139027.6(ADAMTS13):c.717C>T (p.Gly239=)	Upshaw-Schulman syndrome [RCV005045943]	uncertain significance	9	133428664	133428664	Human	1	name
597909971	CV3830120	single nucleotide variant	NM_139027.6(ADAMTS13):c.876C>T (p.Ser292=)	not provided [RCV005182690]	likely benign	9	133429990	133429990	Human		name
597962833	CV3841321	single nucleotide variant	NM_139027.6(ADAMTS13):c.888G>A (p.Pro296=)	not provided [RCV005193424]	likely benign	9	133430002	133430002	Human		name
597886284	CV3854923	single nucleotide variant	NM_139027.6(ADAMTS13):c.987G>T (p.Leu329=)	not provided [RCV005199769]	uncertain significance	9	133430101	133430101	Human		name
598210224	CV3895050	single nucleotide variant	NM_139027.6(ADAMTS13):c.92C>T (p.Ser31Phe)	Upshaw-Schulman syndrome [RCV005358503]	uncertain significance	9	133422535	133422535	Human	1	name
617153427	CV4018527	single nucleotide variant	NM_139027.6(ADAMTS13):c.909C>G (p.Leu303=)	not specified [RCV005418788]	uncertain significance	9	133430023	133430023	Human		name
15164511	CV700869	single nucleotide variant	NM_139027.6(ADAMTS13):c.420T>C (p.Ala140=)	not provided [RCV000948361]	benign	9	133425943	133425943	Human	1	name
15164511	CV700869	single nucleotide variant	NM_139027.6(ADAMTS13):c.420T>C (p.Ala140=)	not provided [RCV000948361]	benign	9	133425943	133425944	Human	1	name
15192246	CV736980	single nucleotide variant	NM_139027.6(ADAMTS13):c.585C>A (p.Val195=)	not provided [RCV000910482]	likely benign	9	133426244	133426244	Human		name
15112481	CV783330	single nucleotide variant	NM_139027.6(ADAMTS13):c.648C>T (p.Phe216=)	not provided [RCV000977827]	likely benign	9	133426307	133426307	Human		name
28875852	CV901337	single nucleotide variant	NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=)	Upshaw-Schulman syndrome [RCV001165962]\|not provided [RCV002558617]	benign	9	133426205	133426205	Human	1	name
155749310	CV1775410	single nucleotide variant	NM_139027.6(ADAMTS13):c.295G>A (p.Asp99Asn)	not provided [RCV002304516]	uncertain significance	9	133424443	133424443	Human		name
156319105	CV1900267	single nucleotide variant	NM_139027.6(ADAMTS13):c.1314C>T (p.Cys438=)	not provided [RCV003088891]\|not specified [RCV005419566]	likely benign	9	133436834	133436834	Human		name
155961870	CV1936572	single nucleotide variant	NM_139027.6(ADAMTS13):c.2889C>T (p.Ser963=)	not provided [RCV002512391]	likely benign	9	133449810	133449810	Human		name
156437493	CV1947569	single nucleotide variant	NM_139027.6(ADAMTS13):c.1053C>T (p.Leu351=)	not provided [RCV003107031]	likely benign	9	133432653	133432653	Human		name
156447909	CV1951844	single nucleotide variant	NM_139027.6(ADAMTS13):c.2265C>T (p.Ser755=)	not provided [RCV003119464]	likely benign	9	133443406	133443406	Human		name
156331715	CV1954145	single nucleotide variant	NM_139027.6(ADAMTS13):c.2490C>T (p.Thr830=)	not provided [RCV002580036]	likely benign	9	133444932	133444932	Human		name
156157178	CV1954457	single nucleotide variant	NM_139027.6(ADAMTS13):c.1281C>T (p.Asp427=)	not provided [RCV002573094]	likely benign	9	133433677	133433677	Human		name
156319631	CV1965979	single nucleotide variant	NM_139027.6(ADAMTS13):c.2976C>T (p.Asp992=)	not provided [RCV002600146]	benign	9	133449897	133449897	Human		name
156309216	CV1973006	single nucleotide variant	NM_139027.6(ADAMTS13):c.1509C>T (p.Leu503=)	not provided [RCV002578596]	likely benign	9	133437822	133437822	Human		name
155902030	CV1975711	single nucleotide variant	NM_139027.6(ADAMTS13):c.1587A>G (p.Thr529=)	not provided [RCV002613447]	likely benign	9	133438248	133438248	Human		name
156046205	CV1978050	single nucleotide variant	NM_139027.6(ADAMTS13):c.2952C>T (p.Asp984=)	not provided [RCV002590504]	likely benign	9	133449873	133449873	Human		name
156165031	CV1986185	single nucleotide variant	NM_139027.6(ADAMTS13):c.1152T>C (p.His384=)	not provided [RCV002642545]	likely benign	9	133433437	133433437	Human		name
156111858	CV2008676	single nucleotide variant	NM_139027.6(ADAMTS13):c.1851C>T (p.Tyr617=)	not provided [RCV002695701]	likely benign	9	133440408	133440408	Human		name
155954863	CV2043957	single nucleotide variant	NM_139027.6(ADAMTS13):c.1371G>A (p.Pro457=)	not provided [RCV002775967]	likely benign	9	133436891	133436891	Human		name
156017022	CV2046908	single nucleotide variant	NM_139027.6(ADAMTS13):c.1569G>A (p.Val523=)	not provided [RCV002756989]	uncertain significance	9	133437882	133437882	Human		name
156198242	CV2066694	single nucleotide variant	NM_139027.6(ADAMTS13):c.1101C>T (p.Ser367=)	not provided [RCV002828845]	likely benign	9	133433386	133433386	Human		name
8558930	CV20837	single nucleotide variant	NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp)	Upshaw-Schulman syndrome [RCV000006154]	pathogenic	9	133424434	133424434	Human	1	name
156127156	CV2112392	single nucleotide variant	NM_139027.6(ADAMTS13):c.1821G>A (p.Gly607=)	not provided [RCV002928051]	likely benign	9	133440378	133440378	Human		name
156306831	CV2115649	single nucleotide variant	NM_139027.6(ADAMTS13):c.1137C>T (p.Pro379=)	not provided [RCV002922860]	benign	9	133433422	133433422	Human		name
156002435	CV2119085	single nucleotide variant	NM_139027.6(ADAMTS13):c.1389C>T (p.Gly463=)	not provided [RCV002975248]\|not specified [RCV004526950]	likely benign	9	133436909	133436909	Human		name
156244310	CV2126265	single nucleotide variant	NM_139027.6(ADAMTS13):c.1701G>A (p.Ala567=)	not provided [RCV002958982]	likely benign	9	133438362	133438362	Human		name
156360029	CV2126381	single nucleotide variant	NM_139027.6(ADAMTS13):c.1767G>A (p.Arg589=)	not provided [RCV002966921]	likely benign	9	133439427	133439427	Human		name
156214605	CV2127920	single nucleotide variant	NM_139027.6(ADAMTS13):c.1899C>T (p.Thr633=)	ADAMTS13-related disorder [RCV003926574]\|not provided [RCV002957891]	benign\|likely benign	9	133440456	133440456	Human	1	name , alternate_id
156121094	CV2128528	single nucleotide variant	NM_139027.6(ADAMTS13):c.2385G>A (p.Ala795=)	not provided [RCV002953500]	likely benign	9	133443526	133443526	Human		name
156322156	CV2134213	single nucleotide variant	NM_139027.6(ADAMTS13):c.1473C>T (p.Gly491=)	not provided [RCV002963283]	likely benign	9	133437786	133437786	Human		name
155958596	CV2138134	single nucleotide variant	NM_139027.6(ADAMTS13):c.175C>T (p.Arg59Cys)	not provided [RCV002972265]	likely benign	9	133424323	133424323	Human		name
156033063	CV2142213	single nucleotide variant	NM_139027.6(ADAMTS13):c.2880G>A (p.Ala960=)	not provided [RCV002976688]	likely benign	9	133449801	133449801	Human		name
156345319	CV2382155	single nucleotide variant	NM_139027.6(ADAMTS13):c.206G>A (p.Arg69Lys)	Inborn genetic diseases [RCV002719639]	uncertain significance	9	133424354	133424354	Human	1	name
156091930	CV2389520	single nucleotide variant	NM_139027.6(ADAMTS13):c.179C>T (p.Pro60Leu)	Inborn genetic diseases [RCV002784366]	uncertain significance	9	133424327	133424327	Human	1	name
11551196	CV253384	single nucleotide variant	NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=)	Upshaw-Schulman syndrome [RCV000405892]\|not provided [RCV000972468]\|not specified [RCV000252727]	benign\|likely benign	9	133440354	133440354	Human	1	name
11551676	CV253389	single nucleotide variant	NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=)	Upshaw-Schulman syndrome [RCV000263113]\|not provided [RCV000967140]\|not specified [RCV000253342]	benign\|likely benign	9	133444950	133444950	Human	1	name
11545584	CV253390	single nucleotide variant	NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=)	Upshaw-Schulman syndrome [RCV000318341]\|not provided [RCV000886007]\|not specified [RCV000245340]	likely benign\|uncertain significance	9	133445022	133445022	Human	1	name
11551943	CV253392	single nucleotide variant	NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=)	Upshaw-Schulman syndrome [RCV000378938]\|not provided [RCV001711742]\|not specified [RCV000253712]	benign\|likely benign	9	133449831	133449831	Human	1	name
401961777	CV2844099	single nucleotide variant	NM_139027.6(ADAMTS13):c.241C>T (p.His81Tyr)	not provided [RCV003481939]	uncertain significance	9	133424389	133424389	Human		name
401961783	CV2844105	single nucleotide variant	NM_139027.6(ADAMTS13):c.2350C>A (p.Arg784=)	not provided [RCV003481945]	uncertain significance	9	133443491	133443491	Human		name
405082069	CV2864895	single nucleotide variant	NM_139027.6(ADAMTS13):c.2709G>A (p.Ser903=)	not provided [RCV003549307]	likely benign	9	133445797	133445797	Human		name
405215541	CV2876126	single nucleotide variant	NM_139027.6(ADAMTS13):c.1356G>A (p.Arg452=)	not provided [RCV003553146]	likely benign	9	133436876	133436876	Human		name
405120504	CV2887953	single nucleotide variant	NM_139027.6(ADAMTS13):c.2724C>T (p.Cys908=)	ADAMTS13-related disorder [RCV003901156]\|not provided [RCV003559042]	likely benign	9	133445812	133445812	Human	1	name , alternate_id
405114106	CV2896659	single nucleotide variant	NM_139027.6(ADAMTS13):c.2850G>A (p.Pro950=)	not provided [RCV003558287]	likely benign	9	133448717	133448717	Human		name
402473777	CV2908939	single nucleotide variant	NM_139027.6(ADAMTS13):c.1956T>C (p.Asp652=)	not provided [RCV003570985]	likely benign	9	133440513	133440513	Human		name
405207275	CV2913661	single nucleotide variant	NM_139027.6(ADAMTS13):c.2685C>T (p.His895=)	not provided [RCV003566621]	likely benign	9	133445773	133445773	Human		name
405211108	CV2921070	single nucleotide variant	NM_139027.6(ADAMTS13):c.1446G>A (p.Leu482=)	not provided [RCV003567180]	likely benign	9	133437759	133437759	Human		name
402479103	CV2924917	single nucleotide variant	NM_139027.6(ADAMTS13):c.2097T>C (p.Cys699=)	not provided [RCV003571879]	likely benign	9	133442527	133442527	Human		name
405008222	CV2926869	single nucleotide variant	NM_139027.6(ADAMTS13):c.2178G>A (p.Gly726=)	not provided [RCV003576512]	likely benign	9	133442687	133442687	Human		name
405091027	CV2937410	single nucleotide variant	NM_139027.6(ADAMTS13):c.1266A>G (p.Ala422=)	not provided [RCV003665284]	likely benign	9	133433662	133433662	Human		name
405126035	CV2939462	single nucleotide variant	NM_139027.6(ADAMTS13):c.2208C>T (p.Ala736=)	not provided [RCV003671962]	likely benign	9	133442717	133442717	Human		name
405101552	CV2944812	single nucleotide variant	NM_139027.6(ADAMTS13):c.1023G>A (p.Pro341=)	not provided [RCV003666196]	likely benign	9	133432623	133432623	Human		name
402497912	CV2946675	single nucleotide variant	NM_139027.6(ADAMTS13):c.1029C>T (p.Asp343=)	not provided [RCV003661310]	likely benign	9	133432629	133432629	Human		name
405150640	CV2959729	single nucleotide variant	NM_139027.6(ADAMTS13):c.1473C>G (p.Gly491=)	not provided [RCV003673985]	likely benign	9	133437786	133437786	Human		name
405218713	CV2968595	duplication	NM_139027.6(ADAMTS13):c.887dup (p.Pro297fs)	not provided [RCV003680266]	pathogenic	9	133429998	133429999	Human		name
405228766	CV2973688	duplication	NM_139027.6(ADAMTS13):c.910dup (p.Tyr304fs)	not provided [RCV003681834]	pathogenic	9	133430023	133430024	Human		name
405129380	CV3010765	single nucleotide variant	NM_139027.6(ADAMTS13):c.2361A>G (p.Ala787=)	not provided [RCV003701534]	likely benign	9	133443502	133443502	Human		name
405166672	CV3018948	single nucleotide variant	NM_139027.6(ADAMTS13):c.185C>T (p.Ser62Phe)	not provided [RCV003704366]	uncertain significance	9	133424333	133424333	Human		name
405081063	CV3046662	single nucleotide variant	NM_139027.6(ADAMTS13):c.1548C>T (p.Asp516=)	ADAMTS13-related disorder [RCV003919328]\|not provided [RCV003717139]	likely benign	9	133437861	133437861	Human	1	name , alternate_id
405142293	CV3055949	single nucleotide variant	NM_139027.6(ADAMTS13):c.1572G>A (p.Ser524=)	not provided [RCV003725755]	likely benign	9	133437885	133437885	Human		name
405240674	CV3060885	single nucleotide variant	NM_139027.6(ADAMTS13):c.176G>A (p.Arg59His)	not provided [RCV003737193]	uncertain significance	9	133424324	133424324	Human		name
11604453	CV307299	single nucleotide variant	NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=)	Upshaw-Schulman syndrome [RCV000309781]\|not provided [RCV000968654]	benign\|uncertain significance	9	133440387	133440387	Human	1	name
405169016	CV3078933	deletion	NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)	Upshaw-Schulman syndrome [RCV005040489]\|not provided [RCV003727577]	pathogenic\|likely pathogenic	9	133428728	133428728	Human	1	name
11609610	CV311566	single nucleotide variant	NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=)	Upshaw-Schulman syndrome [RCV000370696]\|not provided [RCV003546556]\|not specified [RCV005407083]	likely benign\|uncertain significance	9	133442616	133442616	Human	1	name
405207266	CV3120463	single nucleotide variant	NM_139027.6(ADAMTS13):c.1761C>T (p.Asn587=)	not provided [RCV003822797]	likely benign	9	133439421	133439421	Human		name
404985002	CV3121788	single nucleotide variant	NM_139027.6(ADAMTS13):c.1215C>T (p.Val405=)	not provided [RCV003826587]	likely benign	9	133433500	133433500	Human		name
405185110	CV3124162	single nucleotide variant	NM_139027.6(ADAMTS13):c.1989G>A (p.Glu663=)	not provided [RCV003820360]	likely benign	9	133442419	133442419	Human		name
405141901	CV3125937	single nucleotide variant	NM_139027.6(ADAMTS13):c.2196G>A (p.Ala732=)	not provided [RCV003816853]	likely benign	9	133442705	133442705	Human		name
405194707	CV3128610	single nucleotide variant	NM_139027.6(ADAMTS13):c.2268C>T (p.Ala756=)	not provided [RCV003821347]	likely benign	9	133443409	133443409	Human		name
405127254	CV3132874	single nucleotide variant	NM_139027.6(ADAMTS13):c.2253C>T (p.Phe751=)	ADAMTS13-related disorder [RCV003893461]\|not provided [RCV003838037]	likely benign	9	133443394	133443394	Human	1	name , alternate_id
402518477	CV3135996	single nucleotide variant	NM_139027.6(ADAMTS13):c.2022C>T (p.Thr674=)	not provided [RCV003824622]	likely benign	9	133442452	133442452	Human		name
405052525	CV3138372	single nucleotide variant	NM_139027.6(ADAMTS13):c.1680C>T (p.Gly560=)	not provided [RCV003832216]	likely benign	9	133438341	133438341	Human		name
405198145	CV3168355	single nucleotide variant	NM_139027.6(ADAMTS13):c.2448C>T (p.Cys816=)	not provided [RCV003860487]	likely benign	9	133444890	133444890	Human		name
405235575	CV3168670	single nucleotide variant	NM_139027.6(ADAMTS13):c.1350C>T (p.Cys450=)	not provided [RCV003866144]	likely benign	9	133436870	133436870	Human		name
11610942	CV317093	single nucleotide variant	NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=)	Upshaw-Schulman syndrome [RCV000388478]	uncertain significance	9	133436861	133436861	Human	1	name
11606355	CV317096	single nucleotide variant	NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=)	Upshaw-Schulman syndrome [RCV000330336]\|not provided [RCV002524589]	likely benign\|uncertain significance	9	133436879	133436879	Human	1	name
11601795	CV317537	single nucleotide variant	NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)	Upshaw-Schulman syndrome [RCV000285508]\|not provided [RCV000889644]	likely benign\|uncertain significance	9	133437864	133437864	Human	1	name
11600721	CV317539	single nucleotide variant	NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)	Upshaw-Schulman syndrome [RCV000276197]\|not provided [RCV000968853]	likely benign\|uncertain significance	9	133442726	133442726	Human	1	name
405271439	CV3209436	single nucleotide variant	NM_139027.6(ADAMTS13):c.2703A>G (p.Ala901=)	ADAMTS13-related disorder [RCV003949759]	likely benign	9	133445791	133445791	Human		name , trait , alternate_id
405675812	CV3306825	single nucleotide variant	NM_139027.6(ADAMTS13):c.2067C>T (p.Ala689=)	Inborn genetic diseases [RCV004442392]\|not provided [RCV005242552]	likely benign	9	133442497	133442497	Human	1	name
408385189	CV3505771	single nucleotide variant	NM_139027.6(ADAMTS13):c.167T>G (p.Leu56Ter)	ADAMTS13-related disorder [RCV004732423]	likely pathogenic	9	133423162	133423162	Human		name , trait , alternate_id
408395121	CV3521994	deletion	NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)	Upshaw-Schulman syndrome [RCV004765391]	pathogenic	9	133428668	133428668	Human	1	name
596932476	CV3539096	single nucleotide variant	NM_139027.6(ADAMTS13):c.161C>T (p.Ala54Val)	not provided [RCV004793222]	uncertain significance	9	133423156	133423156	Human		name
597686742	CV3729391	single nucleotide variant	NM_139027.6(ADAMTS13):c.178C>A (p.Pro60Thr)	Upshaw-Schulman syndrome [RCV005045928]	uncertain significance	9	133424326	133424326	Human	1	name
597686747	CV3729393	single nucleotide variant	NM_139027.6(ADAMTS13):c.181C>T (p.Pro61Ser)	Upshaw-Schulman syndrome [RCV005045929]	uncertain significance	9	133424329	133424329	Human	1	name
597713389	CV3729394	single nucleotide variant	NM_139027.6(ADAMTS13):c.182C>G (p.Pro61Arg)	Upshaw-Schulman syndrome [RCV005048951]	uncertain significance	9	133424330	133424330	Human	1	name
597686757	CV3729397	single nucleotide variant	NM_139027.6(ADAMTS13):c.221G>A (p.Arg74Gln)	Upshaw-Schulman syndrome [RCV005045930]	uncertain significance	9	133424369	133424369	Human	1	name
597713715	CV3729398	single nucleotide variant	NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser)	Upshaw-Schulman syndrome [RCV005048954]	uncertain significance	9	133424380	133424380	Human	1	name
597686776	CV3729401	single nucleotide variant	NM_139027.6(ADAMTS13):c.272A>G (p.Asp91Gly)	Upshaw-Schulman syndrome [RCV005045932]	uncertain significance	9	133424420	133424420	Human	1	name
597686787	CV3729402	single nucleotide variant	NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)	Upshaw-Schulman syndrome [RCV005045933]	likely pathogenic	9	133424428	133424428	Human	1	name
597687289	CV3729470	single nucleotide variant	NM_139027.6(ADAMTS13):c.1968G>A (p.Gln656=)	Upshaw-Schulman syndrome [RCV005045984]	uncertain significance	9	133440525	133440525	Human	1	name
597687298	CV3729471	single nucleotide variant	NM_139027.6(ADAMTS13):c.1974C>T (p.Tyr658=)	Upshaw-Schulman syndrome [RCV005045985]	uncertain significance	9	133442404	133442404	Human	1	name
597687341	CV3729475	single nucleotide variant	NM_139027.6(ADAMTS13):c.2088G>A (p.Ser696=)	Upshaw-Schulman syndrome [RCV005045989]	uncertain significance	9	133442518	133442518	Human	1	name
597687363	CV3729477	single nucleotide variant	NM_139027.6(ADAMTS13):c.2130C>T (p.Cys710=)	Upshaw-Schulman syndrome [RCV005045991]	uncertain significance	9	133442639	133442639	Human	1	name
597687401	CV3729482	single nucleotide variant	NM_139027.6(ADAMTS13):c.2298A>G (p.Pro766=)	Upshaw-Schulman syndrome [RCV005045995]	uncertain significance	9	133443439	133443439	Human	1	name
597687438	CV3729487	single nucleotide variant	NM_139027.6(ADAMTS13):c.2409C>T (p.Pro803=)	Upshaw-Schulman syndrome [RCV005045999]	uncertain significance	9	133443550	133443550	Human	1	name
597713958	CV3729496	single nucleotide variant	NM_139027.6(ADAMTS13):c.2619C>T (p.Ala873=)	Upshaw-Schulman syndrome [RCV005048975]	uncertain significance	9	133445707	133445707	Human	1	name
597713967	CV3729497	single nucleotide variant	NM_139027.6(ADAMTS13):c.2694C>T (p.Thr898=)	Upshaw-Schulman syndrome [RCV005048976]	uncertain significance	9	133445782	133445782	Human	1	name
597851902	CV3737581	single nucleotide variant	NM_139027.6(ADAMTS13):c.2892G>C (p.Val964=)	not provided [RCV005066354]	likely benign	9	133449813	133449813	Human		name
597836253	CV3739833	single nucleotide variant	NM_139027.6(ADAMTS13):c.1347G>A (p.Gln449=)	not provided [RCV005064053]	likely benign	9	133436867	133436867	Human		name
597873331	CV3747315	single nucleotide variant	NM_139027.6(ADAMTS13):c.1260G>T (p.Gly420=)	not provided [RCV005068999]	likely benign	9	133433656	133433656	Human		name
597871350	CV3750032	single nucleotide variant	NM_139027.6(ADAMTS13):c.1083C>T (p.Gly361=)	not provided [RCV005068713]	likely benign	9	133432683	133432683	Human		name
597832350	CV3751342	single nucleotide variant	NM_139027.6(ADAMTS13):c.1005C>T (p.Leu335=)	not provided [RCV005084888]	likely benign	9	133432605	133432605	Human		name
597923569	CV3777880	single nucleotide variant	NM_139027.6(ADAMTS13):c.1176C>A (p.Pro392=)	not provided [RCV005130604]	likely benign	9	133433461	133433461	Human		name
597895053	CV3781837	single nucleotide variant	NM_139027.6(ADAMTS13):c.2250C>T (p.Asp750=)	not provided [RCV005126265]	likely benign	9	133443391	133443391	Human		name
597957658	CV3800559	single nucleotide variant	NM_139027.6(ADAMTS13):c.2752C>T (p.Leu918=)	not provided [RCV005137651]	likely benign	9	133448619	133448619	Human		name
597946423	CV3807506	single nucleotide variant	NM_139027.6(ADAMTS13):c.1644T>C (p.Cys548=)	not provided [RCV005160141]	likely benign	9	133438305	133438305	Human		name
597876247	CV3813200	single nucleotide variant	NM_139027.6(ADAMTS13):c.2175A>G (p.Gln725=)	not provided [RCV005149136]	likely benign	9	133442684	133442684	Human		name
597973401	CV3820459	single nucleotide variant	NM_139027.6(ADAMTS13):c.2841G>A (p.Gln947=)	not provided [RCV005167976]	likely benign	9	133448708	133448708	Human		name
597967853	CV3824352	single nucleotide variant	NM_139027.6(ADAMTS13):c.1101C>G (p.Ser367=)	not provided [RCV005165575]	likely benign	9	133433386	133433386	Human		name
597909021	CV3829900	single nucleotide variant	NM_139027.6(ADAMTS13):c.1116C>T (p.Arg372=)	not provided [RCV005182469]	likely benign	9	133433401	133433401	Human		name
597884523	CV3834947	single nucleotide variant	NM_139027.6(ADAMTS13):c.203A>G (p.Gln68Arg)	not provided [RCV005178671]	uncertain significance	9	133424351	133424351	Human		name
597963194	CV3841409	single nucleotide variant	NM_139027.6(ADAMTS13):c.2715C>T (p.Ser905=)	not provided [RCV005193512]	likely benign	9	133445803	133445803	Human		name
597957619	CV3848905	single nucleotide variant	NM_139027.6(ADAMTS13):c.2853C>T (p.Cys951=)	not provided [RCV005191906]	likely benign	9	133448720	133448720	Human		name
597858403	CV3850199	single nucleotide variant	NM_139027.6(ADAMTS13):c.1656C>T (p.Asn552=)	not provided [RCV005195532]	likely benign	9	133438317	133438317	Human		name
597893834	CV3856719	single nucleotide variant	NM_139027.6(ADAMTS13):c.130C>T (p.Gln44Ter)	not provided [RCV005200787]	pathogenic	9	133423125	133423125	Human		name
597888563	CV3859525	single nucleotide variant	NM_139027.6(ADAMTS13):c.2295G>T (p.Arg765=)	not provided [RCV005200181]	likely benign	9	133443436	133443436	Human		name
598124753	CV3885374	single nucleotide variant	NM_139027.6(ADAMTS13):c.2721C>T (p.Ser907=)	not specified [RCV005239951]	likely benign	9	133445809	133445809	Human		name
598229186	CV3950897	single nucleotide variant	NM_139027.6(ADAMTS13):c.2667G>A (p.Thr889=)	Inborn genetic diseases [RCV005319180]	likely benign	9	133445755	133445755	Human	1	name
616934278	CV4012273	single nucleotide variant	NM_139027.6(ADAMTS13):c.1929C>A (p.Ile643=)	not specified [RCV005409309]	likely benign	9	133440486	133440486	Human		name
15164515	CV700871	single nucleotide variant	NM_139027.6(ADAMTS13):c.1716G>A (p.Thr572=)	not provided [RCV000948362]	benign	9	133439376	133439376	Human		name
15164521	CV700872	single nucleotide variant	NM_139027.6(ADAMTS13):c.2280T>C (p.Gly760=)	not provided [RCV000948363]	benign	9	133443421	133443421	Human		name
15151498	CV723418	single nucleotide variant	NM_139027.6(ADAMTS13):c.2700G>A (p.Ala900=)	not provided [RCV000879608]	likely benign	9	133445788	133445788	Human		name
15188620	CV736981	single nucleotide variant	NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)	Upshaw-Schulman syndrome [RCV001168913]\|not provided [RCV000909420]\|not specified [RCV004586978]	likely benign\|uncertain significance	9	133433485	133433485	Human	1	name
15116091	CV751516	single nucleotide variant	NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=)	Upshaw-Schulman syndrome [RCV002495528]\|not provided [RCV000917563]	likely benign	9	133433686	133433686	Human	1	name
15138271	CV751517	single nucleotide variant	NM_139027.6(ADAMTS13):c.1986C>G (p.Gly662=)	not provided [RCV000921304]	likely benign	9	133442416	133442416	Human		name
21070197	CV796262	single nucleotide variant	NM_139027.6(ADAMTS13):c.290A>G (p.Gln97Arg)	not provided [RCV000999267]	uncertain significance	9	133424438	133424438	Human		name
8624592	CV79702	single nucleotide variant	NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met)	not provided [RCV000059763]	not provided	9	133424385	133424385	Human		name
8624593	CV79703	single nucleotide variant	NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)	Upshaw-Schulman syndrome [RCV000778160]\|not provided [RCV000059764]	likely pathogenic\|uncertain significance\|not provided	9	133424410	133424410	Human	1	name
28882997	CV901334	single nucleotide variant	NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)	Inborn genetic diseases [RCV003246741]\|Upshaw-Schulman syndrome [RCV001168076]\|not specified [RCV003321802]	uncertain significance	9	133423131	133423131	Human	2	name
28876035	CV901343	single nucleotide variant	NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)	Upshaw-Schulman syndrome [RCV001166021]\|not provided [RCV002559589]	likely benign\|uncertain significance	9	133436912	133436912	Human	1	name
28881329	CV901344	single nucleotide variant	NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)	Upshaw-Schulman syndrome [RCV001167594]	uncertain significance	9	133437750	133437750	Human	1	name
28881332	CV901345	single nucleotide variant	NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=)	Upshaw-Schulman syndrome [RCV001167595]	uncertain significance	9	133437831	133437831	Human	1	name
28876176	CV901348	single nucleotide variant	NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)	Upshaw-Schulman syndrome [RCV001166071]\|not provided [RCV005093692]	likely benign\|uncertain significance	9	133440435	133440435	Human	1	name
28876181	CV901349	single nucleotide variant	NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=)	Upshaw-Schulman syndrome [RCV001166072]	uncertain significance	9	133440468	133440468	Human	1	name
126730777	CV1020585	single nucleotide variant	NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)	Inborn genetic diseases [RCV004035763]\|Upshaw-Schulman syndrome [RCV001333529]\|not provided [RCV001507762]	conflicting interpretations of pathogenicity\|uncertain significance	9	133425950	133425950	Human	2	name
151355872	CV1327055	single nucleotide variant	NM_139027.6(ADAMTS13):c.3849C>T (p.Ile1283=)	not provided [RCV002074262]\|not specified [RCV001822225]	likely benign	9	133458034	133458034	Human		name
151356251	CV1329015	single nucleotide variant	NM_139027.6(ADAMTS13):c.3604T>C (p.Leu1202=)	not provided [RCV002542664]\|not specified [RCV001822604]	likely benign	9	133456599	133456599	Human		name
155749542	CV1773946	single nucleotide variant	NM_139027.6(ADAMTS13):c.930G>T (p.Gln310His)	not provided [RCV002304759]	uncertain significance	9	133430044	133430044	Human		name
156307056	CV1877837	single nucleotide variant	NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)	Upshaw-Schulman syndrome [RCV005045191]\|not provided [RCV003062241]	likely pathogenic\|uncertain significance	9	133428650	133428650	Human	1	name
156222010	CV1899854	single nucleotide variant	NM_139027.6(ADAMTS13):c.406G>A (p.Glu136Lys)	not provided [RCV003085034]	likely benign	9	133425604	133425604	Human		name
156403996	CV1920271	single nucleotide variant	NM_139027.6(ADAMTS13):c.4071G>A (p.Pro1357=)	not provided [RCV002606006]	likely benign	9	133459135	133459135	Human		name
156062484	CV1925712	single nucleotide variant	NM_139027.6(ADAMTS13):c.3882C>T (p.Thr1294=)	not provided [RCV002620994]	likely benign	9	133458067	133458067	Human		name
156437093	CV1936920	single nucleotide variant	NM_139027.6(ADAMTS13):c.807G>T (p.Gln269His)	Inborn genetic diseases [RCV003250829]\|not provided [RCV003106623]	likely benign\|uncertain significance	9	133428754	133428754	Human	1	name
156449061	CV1944314	single nucleotide variant	NM_139027.6(ADAMTS13):c.649G>A (p.Asp217Asn)	Upshaw-Schulman syndrome [RCV005047414]\|not provided [RCV003121172]	uncertain significance	9	133426308	133426308	Human	1	name
156200212	CV1968196	single nucleotide variant	NM_139027.6(ADAMTS13):c.630T>G (p.Ile210Met)	not provided [RCV002625701]	uncertain significance	9	133426289	133426289	Human		name
156308750	CV1976805	single nucleotide variant	NM_139027.6(ADAMTS13):c.833G>C (p.Arg278Pro)	Upshaw-Schulman syndrome [RCV005042888]\|not provided [RCV002578574]	uncertain significance	9	133429947	133429947	Human	1	name
156414058	CV1979253	single nucleotide variant	NM_139027.6(ADAMTS13):c.3834C>T (p.His1278=)	ADAMTS13-related disorder [RCV003898438]\|not provided [RCV002609031]	likely benign	9	133458019	133458019	Human	1	name , alternate_id
156325640	CV1980548	single nucleotide variant	NM_139027.6(ADAMTS13):c.3291C>T (p.Asp1097=)	not provided [RCV002630635]	likely benign	9	133455326	133455326	Human		name
156122037	CV1982806	single nucleotide variant	NM_139027.6(ADAMTS13):c.684C>G (p.His228Gln)	not provided [RCV002622982]	uncertain significance	9	133426343	133426343	Human		name
156163190	CV1985928	single nucleotide variant	NM_139027.6(ADAMTS13):c.3831G>A (p.Pro1277=)	not provided [RCV002642484]	likely benign	9	133458016	133458016	Human		name
156189937	CV1994567	single nucleotide variant	NM_139027.6(ADAMTS13):c.968C>G (p.Thr323Ser)	Upshaw-Schulman syndrome [RCV005042940]\|not provided [RCV002643282]	uncertain significance	9	133430082	133430082	Human	1	name
156313133	CV2007082	single nucleotide variant	NM_139027.6(ADAMTS13):c.436A>T (p.Asn146Tyr)	Inborn genetic diseases [RCV004066869]\|not provided [RCV002671747]	uncertain significance	9	133425959	133425959	Human	1	name
156234573	CV2016106	single nucleotide variant	NM_139027.6(ADAMTS13):c.722G>A (p.Gly241Asp)	Inborn genetic diseases [RCV004973574]\|Upshaw-Schulman syndrome [RCV005044947]\|not provided [RCV002701496]	uncertain significance	9	133428669	133428669	Human	2	name
156213469	CV2018986	single nucleotide variant	NM_139027.6(ADAMTS13):c.3606G>A (p.Leu1202=)	not provided [RCV002700717]	likely benign	9	133456601	133456601	Human		name
155961671	CV2040506	single nucleotide variant	NM_139027.6(ADAMTS13):c.3618C>T (p.Phe1206=)	not provided [RCV002776296]	likely benign	9	133456613	133456613	Human		name
156029103	CV2058999	single nucleotide variant	NM_139027.6(ADAMTS13):c.331G>A (p.Gly111Arg)	not provided [RCV002795973]	uncertain significance	9	133425529	133425529	Human		name
156165772	CV2067234	single nucleotide variant	NM_139027.6(ADAMTS13):c.335C>G (p.Ala112Gly)	not provided [RCV002851377]	uncertain significance	9	133425533	133425533	Human		name
156151638	CV2070346	single nucleotide variant	NM_139027.6(ADAMTS13):c.4041C>A (p.Gly1347=)	not provided [RCV002850889]	likely benign	9	133459105	133459105	Human		name
8558932	CV20839	single nucleotide variant	NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)	Upshaw-Schulman syndrome [RCV000006156]	pathogenic	9	133424452	133424452	Human	1	name
8558933	CV20840	single nucleotide variant	NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)	Upshaw-Schulman syndrome [RCV000006157]\|not provided [RCV001507764]	pathogenic	9	133426246	133426246	Human	1	name
8558943	CV20851	single nucleotide variant	NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro)	Upshaw-Schulman syndrome [RCV000006168]	pathogenic	9	133428750	133428750	Human	1	name
8558947	CV20857	single nucleotide variant	NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val)	Upshaw-Schulman syndrome [RCV000006174]	pathogenic	9	133428696	133428696	Human	1	name
155927479	CV2095803	single nucleotide variant	NM_139027.6(ADAMTS13):c.4062A>T (p.Ser1354=)	not provided [RCV002903647]	likely benign	9	133459126	133459126	Human		name
156252951	CV2117073	single nucleotide variant	NM_139027.6(ADAMTS13):c.566A>G (p.Asn189Ser)	not provided [RCV002933617]	uncertain significance	9	133426225	133426225	Human		name
156253008	CV2117075	single nucleotide variant	NM_139027.6(ADAMTS13):c.604T>A (p.Cys202Ser)	not provided [RCV002933619]	uncertain significance	9	133426263	133426263	Human		name
156020157	CV2118542	single nucleotide variant	NM_139027.6(ADAMTS13):c.346C>T (p.Arg116Trp)	Upshaw-Schulman syndrome [RCV005045105]\|not provided [RCV002948734]	uncertain significance	9	133425544	133425544	Human	1	name
156342560	CV2127738	single nucleotide variant	NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile)	Upshaw-Schulman syndrome [RCV005045085]\|not provided [RCV002938976]	likely benign\|uncertain significance	9	133426242	133426242	Human	1	name
155970332	CV2139693	single nucleotide variant	NM_139027.6(ADAMTS13):c.3216C>T (p.Cys1072=)	not provided [RCV002995593]	likely benign	9	133454586	133454586	Human		name
155931851	CV2156725	single nucleotide variant	NM_139027.6(ADAMTS13):c.566A>T (p.Asn189Ile)	not provided [RCV003013676]	uncertain significance	9	133426225	133426225	Human		name
156186673	CV2178713	deletion	NM_139027.6(ADAMTS13):c.1335del (p.Phe445fs)	not provided [RCV003057699]	pathogenic	9	133436855	133436855	Human		name
156383369	CV2223900	single nucleotide variant	NM_139027.6(ADAMTS13):c.407A>G (p.Glu136Gly)	Inborn genetic diseases [RCV002722976]	uncertain significance	9	133425605	133425605	Human	1	name
156050399	CV2378439	single nucleotide variant	NM_139027.6(ADAMTS13):c.872G>C (p.Gly291Ala)	Inborn genetic diseases [RCV002704910]\|not provided [RCV004790465]	uncertain significance	9	133429986	133429986	Human	1	name
11545497	CV253396	single nucleotide variant	NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=)	Upshaw-Schulman syndrome [RCV000403700]\|not provided [RCV002058395]\|not specified [RCV000245216]	benign\|likely benign	9	133454478	133454478	Human	1	name
11549871	CV253397	single nucleotide variant	NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=)	Upshaw-Schulman syndrome [RCV001166612]\|not provided [RCV000903957]\|not specified [RCV000250976]	benign	9	133454529	133454529	Human	1	name
11547163	CV253400	single nucleotide variant	NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=)	Upshaw-Schulman syndrome [RCV000268615]\|not provided [RCV000972470]\|not specified [RCV000247404]	benign\|likely benign	9	133456673	133456673	Human	1	name
11544871	CV253402	single nucleotide variant	NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=)	Three Vessel Coronary Disease [RCV001003432]\|Upshaw-Schulman syndrome [RCV000359569]\|not provided [RCV002058397]\|not specified [RCV000244372]	benign\|uncertain significance	9	133459117	133459117	Human	2	name
401907542	CV2801150	single nucleotide variant	NM_139027.6(ADAMTS13):c.715G>T (p.Gly239Cys)	ADAMTS13-related disorder [RCV003397391]	uncertain significance	9	133428662	133428662	Human		name , trait , alternate_id
401903108	CV2802585	single nucleotide variant	NM_139027.6(ADAMTS13):c.849G>A (p.Trp283Ter)	ADAMTS13-related disorder [RCV003394368]	likely pathogenic	9	133429963	133429963	Human		name , trait , alternate_id
401961778	CV2844100	single nucleotide variant	NM_139027.6(ADAMTS13):c.860G>A (p.Arg287Gln)	not provided [RCV003481940]	uncertain significance	9	133429974	133429974	Human		name
401961297	CV2844682	single nucleotide variant	NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)	Upshaw-Schulman syndrome [RCV005047630]\|not provided [RCV003480480]	likely pathogenic	9	133424453	133424453	Human	1	name
404977921	CV2851870	single nucleotide variant	NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)	Upshaw-Schulman syndrome [RCV003486356]	uncertain significance	9	133428741	133428741	Human	1	name
405200887	CV2873396	single nucleotide variant	NM_139027.6(ADAMTS13):c.3126C>T (p.Leu1042=)	not provided [RCV003551374]	likely benign	9	133454496	133454496	Human		name
402475415	CV2920622	single nucleotide variant	NM_139027.6(ADAMTS13):c.4089G>A (p.Gln1363=)	ADAMTS13-related disorder [RCV003919299]\|not provided [RCV003571342]\|not specified [RCV004701756]	likely benign	9	133459153	133459153	Human	1	name , alternate_id
405070860	CV2936999	single nucleotide variant	NM_139027.6(ADAMTS13):c.3204C>G (p.Leu1068=)	not provided [RCV003659361]	likely benign	9	133454574	133454574	Human		name
405132874	CV2950122	single nucleotide variant	NM_139027.6(ADAMTS13):c.3474A>G (p.Ala1158=)	not provided [RCV003672563]	likely benign	9	133456142	133456142	Human		name
405128990	CV2953473	single nucleotide variant	NM_139027.6(ADAMTS13):c.890C>T (p.Pro297Leu)	Upshaw-Schulman syndrome [RCV005047726]\|not provided [RCV003672238]	uncertain significance	9	133430004	133430004	Human	1	name
405128958	CV2957219	microsatellite	NM_139027.6(ADAMTS13):c.3400+184_3400+186del	not provided [RCV003672155]	likely benign	9	133455615	133455617	Human		name
405020539	CV2992649	single nucleotide variant	NM_139027.6(ADAMTS13):c.3270T>C (p.Asp1090=)	not provided [RCV003694788]	likely benign	9	133455305	133455305	Human		name
405115198	CV2996302	single nucleotide variant	NM_139027.6(ADAMTS13):c.424A>C (p.Asn142His)	not provided [RCV003723280]	uncertain significance	9	133425947	133425947	Human		name
405236749	CV3036043	single nucleotide variant	NM_139027.6(ADAMTS13):c.3267G>A (p.Gly1089=)	not provided [RCV003712489]	likely benign	9	133455302	133455302	Human		name
405088121	CV3044504	single nucleotide variant	NM_139027.6(ADAMTS13):c.4053C>T (p.Thr1351=)	not provided [RCV003717621]	likely benign	9	133459117	133459117	Human		name
405080493	CV3050481	single nucleotide variant	NM_139027.6(ADAMTS13):c.3516C>T (p.Arg1172=)	not provided [RCV003717097]	likely benign	9	133456184	133456184	Human		name
405222223	CV3056918	single nucleotide variant	NM_139027.6(ADAMTS13):c.3210C>T (p.Ala1070=)	not provided [RCV003733487]	likely benign	9	133454580	133454580	Human		name
405221358	CV3059961	single nucleotide variant	NM_139027.6(ADAMTS13):c.3345C>T (p.His1115=)	not provided [RCV003733249]	likely benign	9	133455380	133455380	Human		name
11657215	CV307309	deletion	NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs)	Upshaw-Schulman syndrome [RCV000339765]	uncertain significance	9	133449854	133449854	Human		name
11611304	CV311606	single nucleotide variant	NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)	Upshaw-Schulman syndrome [RCV000393277]\|not provided [RCV000925152]	likely benign\|uncertain significance	9	133456163	133456163	Human	1	name
405176431	CV3119305	single nucleotide variant	NM_139027.6(ADAMTS13):c.3822T>C (p.Asn1274=)	not provided [RCV003819590]	likely benign	9	133458007	133458007	Human		name
405103251	CV3119656	single nucleotide variant	NM_139027.6(ADAMTS13):c.3588G>A (p.Lys1196=)	not provided [RCV003811918]	likely benign	9	133456583	133456583	Human		name
405061925	CV3148382	single nucleotide variant	NM_139027.6(ADAMTS13):c.3852T>C (p.His1284=)	not provided [RCV003850338]	likely benign	9	133458037	133458037	Human		name
405187277	CV3156463	single nucleotide variant	NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)	Upshaw-Schulman syndrome [RCV005040576]\|not provided [RCV003859341]	likely benign\|uncertain significance	9	133456709	133456709	Human	1	name
11603106	CV317099	single nucleotide variant	NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=)	Upshaw-Schulman syndrome [RCV000296620]\|not provided [RCV003574766]	likely benign\|uncertain significance	9	133454523	133454523	Human	1	name
11612033	CV317100	single nucleotide variant	NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=)	Upshaw-Schulman syndrome [RCV000402839]\|not provided [RCV000910664]	likely benign\|uncertain significance	9	133455383	133455383	Human	1	name
11608459	CV317103	single nucleotide variant	NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=)	Upshaw-Schulman syndrome [RCV000355264]	uncertain significance	9	133456151	133456151	Human	1	name
11663617	CV317532	single nucleotide variant	NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser)	Inborn genetic diseases [RCV002524588]\|Upshaw-Schulman syndrome [RCV000397563]	uncertain significance	9	133428722	133428722	Human	2	name
402515065	CV3178860	single nucleotide variant	NM_139027.6(ADAMTS13):c.3168G>A (p.Ala1056=)	not provided [RCV003879293]	likely benign	9	133454538	133454538	Human		name
405262074	CV3194374	single nucleotide variant	NM_139027.6(ADAMTS13):c.3357G>A (p.Pro1119=)	ADAMTS13-related disorder [RCV003896405]	likely benign	9	133455392	133455392	Human		name , trait , alternate_id
405268675	CV3198986	single nucleotide variant	NM_139027.6(ADAMTS13):c.649G>C (p.Asp217His)	ADAMTS13-related disorder [RCV003912098]\|not provided [RCV004790637]	uncertain significance	9	133426308	133426308	Human	1	name , alternate_id
405291259	CV3222221	single nucleotide variant	NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)	Upshaw-Schulman syndrome [RCV003985056]	uncertain significance	9	133429959	133429959	Human	1	name
405686329	CV3306923	single nucleotide variant	NM_139027.6(ADAMTS13):c.770G>A (p.Arg257His)	Inborn genetic diseases [RCV004444473]	uncertain significance	9	133428717	133428717	Human	1	name
405686352	CV3306928	single nucleotide variant	NM_139027.6(ADAMTS13):c.871G>C (p.Gly291Arg)	Inborn genetic diseases [RCV004444478]	uncertain significance	9	133429985	133429985	Human	1	name
407429015	CV3413402	single nucleotide variant	NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)	Upshaw-Schulman syndrome [RCV004594808]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	9	133428672	133428672	Human	1	name
407469873	CV3415407	single nucleotide variant	NM_139027.6(ADAMTS13):c.449C>A (p.Ser150Tyr)	Upshaw-Schulman syndrome [RCV004598366]	uncertain significance	9	133425972	133425972	Human	1	name
407458022	CV3416309	single nucleotide variant	NM_139027.6(ADAMTS13):c.3183C>T (p.Pro1061=)	not provided [RCV004599187]	likely benign	9	133454553	133454553	Human		name
407501971	CV3425437	single nucleotide variant	NM_139027.6(ADAMTS13):c.569G>A (p.Arg190Gln)	Inborn genetic diseases [RCV004607507]\|Upshaw-Schulman syndrome [RCV005040713]	uncertain significance	9	133426228	133426228	Human	2	name
407501976	CV3425438	single nucleotide variant	NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)	Inborn genetic diseases [RCV004607509]\|Upshaw-Schulman syndrome [RCV005040714]\|not provided [RCV005102135]\|not specified [RCV005407323]	uncertain significance	9	133430033	133430033	Human	2	name
407501983	CV3425441	single nucleotide variant	NM_139027.6(ADAMTS13):c.392T>C (p.Met131Thr)	Inborn genetic diseases [RCV004607512]	uncertain significance	9	133425590	133425590	Human	1	name
408366196	CV3516721	single nucleotide variant	NM_139027.6(ADAMTS13):c.568C>T (p.Arg190Trp)	ADAMTS13-related disorder [RCV004755678]	uncertain significance	9	133426227	133426227	Human		name , trait , alternate_id
596932477	CV3539097	single nucleotide variant	NM_139027.6(ADAMTS13):c.358C>G (p.Leu120Val)	not provided [RCV004793223]	uncertain significance	9	133425556	133425556	Human		name
596932478	CV3539098	single nucleotide variant	NM_139027.6(ADAMTS13):c.598G>A (p.Gly200Ser)	not provided [RCV004793224]	uncertain significance	9	133426257	133426257	Human		name
596932479	CV3539099	single nucleotide variant	NM_139027.6(ADAMTS13):c.706G>A (p.Gly236Ser)	not provided [RCV004793225]	uncertain significance	9	133428653	133428653	Human		name
597655584	CV3642080	single nucleotide variant	NM_139027.6(ADAMTS13):c.621C>G (p.Ser207Arg)	Inborn genetic diseases [RCV004976241]	uncertain significance	9	133426280	133426280	Human	1	name
597655537	CV3642089	single nucleotide variant	NM_139027.6(ADAMTS13):c.902C>G (p.Pro301Arg)	Inborn genetic diseases [RCV004976249]\|not provided [RCV005061664]	uncertain significance	9	133430016	133430016	Human	1	name
597655267	CV3642148	single nucleotide variant	NM_139027.6(ADAMTS13):c.752C>G (p.Ser251Trp)	Inborn genetic diseases [RCV004976260]	uncertain significance	9	133428699	133428699	Human	1	name
597687694	CV3726062	deletion	NM_139027.6(ADAMTS13):c.3400+161_3400+175del	Upshaw-Schulman syndrome [RCV005046026]\|not provided [RCV005063336]	likely pathogenic	9	133455594	133455608	Human	1	name
597686798	CV3729404	single nucleotide variant	NM_139027.6(ADAMTS13):c.463T>C (p.Cys155Arg)	Upshaw-Schulman syndrome [RCV005045934]	uncertain significance	9	133425986	133425986	Human	1	name
597686808	CV3729405	single nucleotide variant	NM_139027.6(ADAMTS13):c.485A>C (p.Asn162Thr)	Upshaw-Schulman syndrome [RCV005045935]	uncertain significance	9	133426008	133426008	Human	1	name
597686817	CV3729406	single nucleotide variant	NM_139027.6(ADAMTS13):c.485A>G (p.Asn162Ser)	Upshaw-Schulman syndrome [RCV005045936]	uncertain significance	9	133426008	133426008	Human	1	name
597686836	CV3729409	single nucleotide variant	NM_139027.6(ADAMTS13):c.610C>T (p.Pro204Ser)	Upshaw-Schulman syndrome [RCV005045938]	uncertain significance	9	133426269	133426269	Human	1	name
597686847	CV3729410	single nucleotide variant	NM_139027.6(ADAMTS13):c.634G>A (p.Glu212Lys)	Upshaw-Schulman syndrome [RCV005045939]	uncertain significance	9	133426293	133426293	Human	1	name
597686858	CV3729411	single nucleotide variant	NM_139027.6(ADAMTS13):c.649G>T (p.Asp217Tyr)	Upshaw-Schulman syndrome [RCV005045940]	uncertain significance	9	133426308	133426308	Human	1	name
597686876	CV3729414	single nucleotide variant	NM_139027.6(ADAMTS13):c.710C>T (p.Ala237Val)	Inborn genetic diseases [RCV005323695]\|Upshaw-Schulman syndrome [RCV005045942]	uncertain significance	9	133428657	133428657	Human	2	name
597686898	CV3729416	single nucleotide variant	NM_139027.6(ADAMTS13):c.769C>G (p.Arg257Gly)	Upshaw-Schulman syndrome [RCV005045944]	uncertain significance	9	133428716	133428716	Human	1	name
597686916	CV3729418	single nucleotide variant	NM_139027.6(ADAMTS13):c.826G>A (p.Ala276Thr)	Upshaw-Schulman syndrome [RCV005045946]	uncertain significance	9	133429940	133429940	Human	1	name
597686927	CV3729420	single nucleotide variant	NM_139027.6(ADAMTS13):c.841T>C (p.Cys281Arg)	Upshaw-Schulman syndrome [RCV005045947]	uncertain significance	9	133429955	133429955	Human	1	name
597686939	CV3729421	single nucleotide variant	NM_139027.6(ADAMTS13):c.868C>T (p.Pro290Ser)	Upshaw-Schulman syndrome [RCV005045948]	uncertain significance	9	133429982	133429982	Human	1	name
597686947	CV3729422	single nucleotide variant	NM_139027.6(ADAMTS13):c.881G>T (p.Gly294Val)	Upshaw-Schulman syndrome [RCV005045949]	uncertain significance	9	133429995	133429995	Human	1	name
597686956	CV3729423	single nucleotide variant	NM_139027.6(ADAMTS13):c.910T>C (p.Tyr304His)	Upshaw-Schulman syndrome [RCV005045950]	uncertain significance	9	133430024	133430024	Human	1	name
597686965	CV3729424	single nucleotide variant	NM_139027.6(ADAMTS13):c.925G>C (p.Glu309Gln)	Upshaw-Schulman syndrome [RCV005045951]	uncertain significance	9	133430039	133430039	Human	1	name
597686975	CV3729425	single nucleotide variant	NM_139027.6(ADAMTS13):c.950C>T (p.Pro317Leu)	Upshaw-Schulman syndrome [RCV005045952]	uncertain significance	9	133430064	133430064	Human	1	name
597686985	CV3729427	single nucleotide variant	NM_139027.6(ADAMTS13):c.961G>C (p.Ala321Pro)	Inborn genetic diseases [RCV005311162]\|Upshaw-Schulman syndrome [RCV005045953]	uncertain significance	9	133430075	133430075	Human	2	name
597713752	CV3729428	single nucleotide variant	NM_139027.6(ADAMTS13):c.978G>C (p.Arg326Ser)	Upshaw-Schulman syndrome [RCV005048957]	uncertain significance	9	133430092	133430092	Human	1	name
597687037	CV3729438	deletion	NM_139027.6(ADAMTS13):c.1266del (p.Cys423fs)	Upshaw-Schulman syndrome [RCV005045959]	likely pathogenic	9	133433662	133433662	Human	1	name
597713936	CV3729491	deletion	NM_139027.6(ADAMTS13):c.2555del (p.Lys852fs)	Upshaw-Schulman syndrome [RCV005048973]	likely pathogenic	9	133444996	133444996	Human	1	name
597687619	CV3729514	single nucleotide variant	NM_139027.6(ADAMTS13):c.3114C>G (p.Ala1038=)	Upshaw-Schulman syndrome [RCV005046018]	uncertain significance	9	133454484	133454484	Human	1	name
597713368	CV3733022	single nucleotide variant	NM_139027.6(ADAMTS13):c.965G>T (p.Cys322Phe)	Upshaw-Schulman syndrome [RCV005052211]	uncertain significance	9	133430079	133430079	Human	1	name
597866083	CV3742410	single nucleotide variant	NM_139027.6(ADAMTS13):c.3075G>A (p.Ser1025=)	not provided [RCV005068026]	likely benign	9	133454445	133454445	Human		name
597909846	CV3749577	single nucleotide variant	NM_139027.6(ADAMTS13):c.3903C>T (p.Tyr1301=)	not provided [RCV005073425]	likely benign	9	133458088	133458088	Human		name
597909884	CV3749582	single nucleotide variant	NM_139027.6(ADAMTS13):c.3942G>A (p.Ala1314=)	not provided [RCV005073430]	likely benign	9	133459006	133459006	Human		name
597846084	CV3753053	single nucleotide variant	NM_139027.6(ADAMTS13):c.3141C>T (p.Asp1047=)	not provided [RCV005087278]	likely benign	9	133454511	133454511	Human		name
597908404	CV3781660	single nucleotide variant	NM_139027.6(ADAMTS13):c.3474A>C (p.Ala1158=)	not provided [RCV005128348]	likely benign	9	133456142	133456142	Human		name
597904604	CV3793314	single nucleotide variant	NM_139027.6(ADAMTS13):c.3601C>T (p.Leu1201=)	not provided [RCV005153282]	likely benign	9	133456596	133456596	Human		name
597933270	CV3793369	single nucleotide variant	NM_139027.6(ADAMTS13):c.3696C>T (p.Ser1232=)	not provided [RCV005132025]	likely benign	9	133456691	133456691	Human		name
597853379	CV3825172	single nucleotide variant	NM_139027.6(ADAMTS13):c.3873C>T (p.Gly1291=)	not provided [RCV005174020]	likely benign	9	133458058	133458058	Human		name
597882749	CV3857624	single nucleotide variant	NM_139027.6(ADAMTS13):c.3639G>C (p.Leu1213=)	not provided [RCV005199251]	likely benign	9	133456634	133456634	Human		name
598123346	CV3884929	single nucleotide variant	NM_139027.6(ADAMTS13):c.850G>T (p.Asp284Tyr)	not specified [RCV005238538]	uncertain significance	9	133429964	133429964	Human		name
598166788	CV3950853	single nucleotide variant	NM_139027.6(ADAMTS13):c.898C>G (p.Gln300Glu)	Inborn genetic diseases [RCV005307941]	uncertain significance	9	133430012	133430012	Human	1	name
598229211	CV3950925	single nucleotide variant	NM_139027.6(ADAMTS13):c.390G>T (p.Lys130Asn)	Inborn genetic diseases [RCV005319184]	uncertain significance	9	133425588	133425588	Human	1	name
598167268	CV3950973	single nucleotide variant	NM_139027.6(ADAMTS13):c.778C>T (p.Leu260Phe)	Inborn genetic diseases [RCV005308034]	uncertain significance	9	133428725	133428725	Human	1	name
616933376	CV4011463	single nucleotide variant	NM_139027.6(ADAMTS13):c.4083C>T (p.Asp1361=)	not specified [RCV005407544]	likely benign	9	133459147	133459147	Human		name
13786212	CV550301	single nucleotide variant	NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val)	Thrombotic thrombocytopenic purpura [RCV000677303]\|not provided [RCV002531387]	pathogenic\|uncertain significance	9	133426240	133426240	Human	1	name
13832170	CV582662	deletion	NM_139027.6(ADAMTS13):c.1940del (p.Gly647fs)	not provided [RCV000722854]	uncertain significance	9	133440494	133440494	Human		name
13832277	CV582770	single nucleotide variant	NM_139027.6(ADAMTS13):c.540G>T (p.Arg180Ser)	not provided [RCV000722963]	uncertain significance	9	133426199	133426199	Human		name
14688168	CV620323	single nucleotide variant	NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile)	Upshaw-Schulman syndrome [RCV000778877]	uncertain significance	9	133425983	133425983	Human	1	name
14688179	CV620324	single nucleotide variant	NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	ADAMTS13-related disorder [RCV004754560]\|Upshaw-Schulman syndrome [RCV000778929]\|not provided [RCV001507763]\|not specified [RCV003994114]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	9	133426218	133426218	Human	1	name , alternate_id
15160889	CV723416	single nucleotide variant	NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met)	ADAMTS13-related disorder [RCV003920540]\|Upshaw-Schulman syndrome [RCV002495345]\|not provided [RCV000881470]\|not specified [RCV001817072]	benign\|likely benign	9	133426023	133426023	Human	1	name , alternate_id
15161852	CV736982	single nucleotide variant	NM_139027.6(ADAMTS13):c.3171G>A (p.Ala1057=)	not provided [RCV000903432]\|not specified [RCV001818764]	benign\|likely benign	9	133454541	133454541	Human		name
15199158	CV751518	single nucleotide variant	NM_139027.6(ADAMTS13):c.3150G>A (p.Val1050=)	not provided [RCV000912466]	benign	9	133454520	133454520	Human		name
15121263	CV751519	single nucleotide variant	NM_139027.6(ADAMTS13):c.4104G>A (p.Lys1368=)	not provided [RCV000918453]	likely benign	9	133459168	133459168	Human		name
15097623	CV767232	single nucleotide variant	NM_139027.6(ADAMTS13):c.3003G>A (p.Pro1001=)	ADAMTS13-related disorder [RCV003942934]\|Inborn genetic diseases [RCV005306211]\|not provided [RCV000936089]	likely benign	9	133449924	133449924	Human	2	name , alternate_id
15194854	CV767233	single nucleotide variant	NM_139027.6(ADAMTS13):c.3583A>C (p.Arg1195=)	not provided [RCV000933764]	likely benign	9	133456578	133456578	Human		name
15133295	CV783331	single nucleotide variant	NM_139027.6(ADAMTS13):c.4029C>T (p.Ala1343=)	not provided [RCV000981531]	likely benign	9	133459093	133459093	Human		name
21071863	CV790858	duplication	NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs)	Upshaw-Schulman syndrome [RCV000988285]	pathogenic	9	133449783	133449784	Human	1	name
8624598	CV79708	single nucleotide variant	NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)	Upshaw-Schulman syndrome [RCV002221146]\|not provided [RCV000059769]	likely pathogenic\|not provided	9	133425554	133425554	Human	1	name
8624603	CV79713	single nucleotide variant	NM_139027.6(ADAMTS13):c.533T>C (p.Ile178Thr)	not provided [RCV000059774]	not provided	9	133426056	133426056	Human		name
8624604	CV79714	single nucleotide variant	NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)	ADAMTS13-related disorder [RCV003894915]\|Upshaw-Schulman syndrome [RCV000516791]\|not provided [RCV000059775]	likely pathogenic\|not provided	9	133426236	133426236	Human	1	name , alternate_id
8624605	CV79715	single nucleotide variant	NM_139027.6(ADAMTS13):c.607T>C (p.Ser203Pro)	not provided [RCV000059776]	not provided	9	133426266	133426266	Human		name
8624606	CV79716	single nucleotide variant	NM_139027.6(ADAMTS13):c.695T>A (p.Leu232Gln)	not provided [RCV000059777]	not provided	9	133428642	133428642	Human		name
8624607	CV79717	single nucleotide variant	NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln)	not provided [RCV000059778]	likely pathogenic\|not provided	9	133428649	133428649	Human		name
8624608	CV79718	single nucleotide variant	NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)	Upshaw-Schulman syndrome [RCV003313775]\|not provided [RCV000059779]	likely pathogenic\|not provided	9	133428650	133428650	Human	1	name
8624609	CV79719	single nucleotide variant	NM_139027.6(ADAMTS13):c.788C>G (p.Ser263Cys)	not provided [RCV000059780]	not provided	9	133428735	133428735	Human		name
8624610	CV79720	single nucleotide variant	NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys)	Upshaw-Schulman syndrome [RCV005042189]\|not provided [RCV000059781]	uncertain significance\|not provided	9	133430025	133430025	Human	1	name
8624611	CV79721	single nucleotide variant	NM_139027.6(ADAMTS13):c.932G>A (p.Cys311Tyr)	not provided [RCV000059782]	not provided	9	133430046	133430046	Human		name
28885679	CV901336	single nucleotide variant	NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp)	ADAMTS13-related disorder [RCV004754698]\|Upshaw-Schulman syndrome [RCV001168844]\|not specified [RCV004587057]	uncertain significance	9	133425571	133425571	Human	1	name , alternate_id
28881098	CV901338	single nucleotide variant	NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser)	Upshaw-Schulman syndrome [RCV001167526]	uncertain significance	9	133428662	133428662	Human	1	name
28881102	CV901339	single nucleotide variant	NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg)	Upshaw-Schulman syndrome [RCV001167527]	uncertain significance	9	133428763	133428763	Human	1	name
28883236	CV901340	single nucleotide variant	NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp)	Upshaw-Schulman syndrome [RCV001168152]	uncertain significance	9	133430019	133430019	Human	1	name
28886622	CV901368	single nucleotide variant	NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=)	Upshaw-Schulman syndrome [RCV001169113]	uncertain significance	9	133456190	133456190	Human	1	name
28876572	CV901370	single nucleotide variant	NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=)	Upshaw-Schulman syndrome [RCV001166189]	uncertain significance	9	133456568	133456568	Human	1	name
28876574	CV901371	single nucleotide variant	NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)	Upshaw-Schulman syndrome [RCV001166190]\|not provided [RCV003769806]	likely benign\|uncertain significance	9	133456652	133456652	Human	1	name
28878238	CV901375	single nucleotide variant	NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)	Upshaw-Schulman syndrome [RCV001166688]\|not provided [RCV003727929]	likely benign\|uncertain significance	9	133459081	133459081	Human	1	name
126730765	CV1020586	single nucleotide variant	NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)	ADAMTS13-related disorder [RCV003426048]\|Upshaw-Schulman syndrome [RCV001333526]\|not provided [RCV002546637]\|not specified [RCV005408840]	likely benign\|uncertain significance	9	133440367	133440367	Human	1	name , alternate_id
126730771	CV1020588	single nucleotide variant	NM_139027.6(ADAMTS13):c.2866C>T (p.Gln956Ter)	Upshaw-Schulman syndrome [RCV001333528]	pathogenic	9	133449787	133449787	Human		name
127287224	CV1152393	single nucleotide variant	NM_139027.6(ADAMTS13):c.1177C>T (p.Arg393Ter)	not provided [RCV001507765]	pathogenic	9	133433462	133433462	Human		name
127287227	CV1152394	single nucleotide variant	NM_139027.6(ADAMTS13):c.1661C>T (p.Thr554Met)	Upshaw-Schulman syndrome [RCV005050385]\|not provided [RCV001507766]	uncertain significance	9	133438322	133438322	Human	1	name
127287231	CV1152395	single nucleotide variant	NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr)	Upshaw-Schulman syndrome [RCV005040297]\|not provided [RCV001507767]	likely pathogenic	9	133442498	133442498	Human	1	name
127287234	CV1152396	single nucleotide variant	NM_139027.6(ADAMTS13):c.2411G>A (p.Cys804Tyr)	not provided [RCV001507768]	uncertain significance	9	133443552	133443552	Human		name
127287237	CV1152397	single nucleotide variant	NM_139027.6(ADAMTS13):c.2465C>G (p.Ala822Gly)	not provided [RCV001507769]	uncertain significance	9	133444907	133444907	Human		name
127287238	CV1152398	single nucleotide variant	NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)	Upshaw-Schulman syndrome [RCV004558626]\|not provided [RCV001507770]\|not specified [RCV003490263]	conflicting interpretations of pathogenicity\|uncertain significance	9	133449857	133449857	Human	1	name
127287241	CV1152399	single nucleotide variant	NM_139027.6(ADAMTS13):c.2978C>T (p.Thr993Ile)	not provided [RCV001507771]	uncertain significance	9	133449899	133449899	Human		name
150529759	CV1210502	single nucleotide variant	NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp)	Upshaw-Schulman syndrome [RCV001729960]	likely pathogenic	9	133442639	133442639	Human	1	name
150530695	CV1293456	single nucleotide variant	NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)	ADAMTS13-related disorder [RCV004754782]\|Upshaw-Schulman syndrome [RCV005040345]\|not provided [RCV001756677]	conflicting interpretations of pathogenicity\|uncertain significance	9	133448613	133448613	Human	1	name , alternate_id
150549363	CV1294840	single nucleotide variant	NM_139027.6(ADAMTS13):c.1519C>T (p.Arg507Trp)	Upshaw-Schulman syndrome [RCV005040349]\|not provided [RCV001752332]	uncertain significance	9	133437832	133437832	Human	1	name
150551628	CV1297477	single nucleotide variant	NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)	ADAMTS13-related disorder [RCV004754786]\|Inborn genetic diseases [RCV004040131]\|Upshaw-Schulman syndrome [RCV002488544]\|not provided [RCV001767161]\|not specified [RCV001821981]	conflicting interpretations of pathogenicity\|uncertain significance	9	133445774	133445774	Human	2	name , alternate_id
150548097	CV1314133	single nucleotide variant	NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)	Upshaw-Schulman syndrome [RCV001785886]\|not provided [RCV003728006]	likely pathogenic	9	133437805	133437805	Human	1	name
151355871	CV1327054	single nucleotide variant	NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)	Upshaw-Schulman syndrome [RCV005361740]\|not provided [RCV002541958]\|not specified [RCV001822224]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133443525	133443525	Human	1	name
151879503	CV1359875	single nucleotide variant	NM_139027.6(ADAMTS13):c.1721T>G (p.Leu574Arg)	not provided [RCV002036671]	uncertain significance	9	133439381	133439381	Human		name
151807460	CV1483341	single nucleotide variant	NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)	Inborn genetic diseases [RCV004042737]\|Upshaw-Schulman syndrome [RCV002484427]\|not provided [RCV001918283]	conflicting interpretations of pathogenicity\|uncertain significance	9	133433473	133433473	Human	2	name
151873914	CV1493410	single nucleotide variant	NM_139027.6(ADAMTS13):c.1225C>T (p.Arg409Trp)	not provided [RCV001906830]	uncertain significance	9	133433510	133433510	Human		name
152042521	CV1670014	single nucleotide variant	NM_139027.6(ADAMTS13):c.2425G>A (p.Glu809Lys)	not provided [RCV002224916]	uncertain significance	9	133444867	133444867	Human		name
153303751	CV1686446	single nucleotide variant	NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys)	ADAMTS13-related disorder [RCV004754870]\|Inborn genetic diseases [RCV004047419]\|Upshaw-Schulman syndrome [RCV002488653]\|not provided [RCV002261880]	likely benign\|uncertain significance	9	133442438	133442438	Human	2	name , alternate_id
153303753	CV1686447	single nucleotide variant	NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)	Upshaw-Schulman syndrome [RCV002488654]\|not provided [RCV002261881]	likely benign\|uncertain significance	9	133442439	133442439	Human	1	name
153346150	CV1692633	single nucleotide variant	NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys)	Upshaw-Schulman syndrome [RCV002274488]	likely pathogenic	9	133433477	133433477	Human	1	name
155266025	CV1696169	single nucleotide variant	NM_139027.6(ADAMTS13):c.1385C>T (p.Pro462Leu)	Thrombus [RCV002280943]	uncertain significance	9	133436905	133436905	Human	1	name
155700601	CV1776123	single nucleotide variant	NM_139027.6(ADAMTS13):c.1528C>T (p.Pro510Ser)	not provided [RCV002299944]	uncertain significance	9	133437841	133437841	Human		name
155732526	CV1776380	single nucleotide variant	NM_139027.6(ADAMTS13):c.1568T>G (p.Val523Gly)	not provided [RCV002301763]	uncertain significance	9	133437881	133437881	Human		name
155800815	CV1860311	single nucleotide variant	NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)	Upshaw-Schulman syndrome [RCV002466953]\|not provided [RCV005098434]	uncertain significance	9	133443434	133443434	Human	1	name
155794910	CV1861186	single nucleotide variant	NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)	Upshaw-Schulman syndrome [RCV002468903]	pathogenic	9	133433454	133433454	Human	1	name
156375857	CV1868740	single nucleotide variant	NM_139027.6(ADAMTS13):c.2533G>A (p.Gly845Arg)	Inborn genetic diseases [RCV004070207]\|Upshaw-Schulman syndrome [RCV005045208]\|not provided [RCV003066715]	uncertain significance	9	133444975	133444975	Human	2	name
156264544	CV1869422	single nucleotide variant	NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)	Upshaw-Schulman syndrome [RCV003138476]\|not provided [RCV003060484]	benign\|uncertain significance	9	133438352	133438352	Human	1	name
156373391	CV1874841	single nucleotide variant	NM_139027.6(ADAMTS13):c.2854C>T (p.Pro952Ser)	Upshaw-Schulman syndrome [RCV005045205]\|not provided [RCV003066493]	uncertain significance	9	133448721	133448721	Human	1	name
156398882	CV1877325	single nucleotide variant	NM_139027.6(ADAMTS13):c.1915C>T (p.Arg639Cys)	Upshaw-Schulman syndrome [RCV005050720]\|not provided [RCV003068934]	uncertain significance	9	133440472	133440472	Human	1	name
156063275	CV1877838	single nucleotide variant	NM_139027.6(ADAMTS13):c.2701G>T (p.Ala901Ser)	not provided [RCV003037335]	uncertain significance	9	133445789	133445789	Human		name
156063327	CV1877839	single nucleotide variant	NM_139027.6(ADAMTS13):c.2728C>T (p.Arg910Ter)	not provided [RCV003037336]	pathogenic	9	133445816	133445816	Human		name
156065825	CV1888788	single nucleotide variant	NM_139027.6(ADAMTS13):c.1681T>C (p.Ser561Pro)	not provided [RCV003079375]	uncertain significance	9	133438342	133438342	Human		name
156293779	CV1892150	single nucleotide variant	NM_139027.6(ADAMTS13):c.1201G>A (p.Gly401Arg)	not provided [RCV003061571]	uncertain significance	9	133433486	133433486	Human		name
156404099	CV1898120	single nucleotide variant	NM_139027.6(ADAMTS13):c.1486A>G (p.Met496Val)	not provided [RCV002585338]	uncertain significance	9	133437799	133437799	Human		name
155941449	CV1910154	single nucleotide variant	NM_139027.6(ADAMTS13):c.2177G>A (p.Gly726Glu)	not provided [RCV002615661]	uncertain significance	9	133442686	133442686	Human		name
156031710	CV1910856	single nucleotide variant	NM_139027.6(ADAMTS13):c.1540C>T (p.Arg514Trp)	not provided [RCV002619881]\|not specified [RCV003321975]	uncertain significance	9	133437853	133437853	Human		name
156418254	CV1914630	single nucleotide variant	NM_139027.6(ADAMTS13):c.1462C>T (p.Arg488Trp)	not provided [RCV002611433]	uncertain significance	9	133437775	133437775	Human		name
156305404	CV1916420	single nucleotide variant	NM_139027.6(ADAMTS13):c.1327C>A (p.Leu443Met)	Upshaw-Schulman syndrome [RCV005050746]\|not provided [RCV002599375]	uncertain significance	9	133436847	133436847	Human	1	name
156408758	CV1954507	single nucleotide variant	NM_139027.6(ADAMTS13):c.1363G>A (p.Gly455Ser)	not provided [RCV002586607]	uncertain significance	9	133436883	133436883	Human		name
156219764	CV1955669	single nucleotide variant	NM_139027.6(ADAMTS13):c.2294G>A (p.Arg765Gln)	not provided [RCV002596410]	uncertain significance	9	133443435	133443435	Human		name
156259261	CV1957319	single nucleotide variant	NM_139027.6(ADAMTS13):c.2484C>G (p.Asn828Lys)	not provided [RCV002576790]	uncertain significance	9	133444926	133444926	Human		name
156144774	CV1973774	single nucleotide variant	NM_139027.6(ADAMTS13):c.1850A>C (p.Tyr617Ser)	not provided [RCV002593951]	uncertain significance	9	133440407	133440407	Human		name
156307077	CV1976508	single nucleotide variant	NM_139027.6(ADAMTS13):c.1262G>C (p.Arg421Pro)	Upshaw-Schulman syndrome [RCV005042886]\|not provided [RCV002578498]	uncertain significance	9	133433658	133433658	Human	1	name
156161692	CV1977828	single nucleotide variant	NM_139027.6(ADAMTS13):c.2087C>T (p.Ser696Leu)	Inborn genetic diseases [RCV004065655]\|not provided [RCV002594489]	uncertain significance	9	133442517	133442517	Human	1	name
156341530	CV1998210	single nucleotide variant	NM_139027.6(ADAMTS13):c.1578C>G (p.Ser526Arg)	Upshaw-Schulman syndrome [RCV005042944]\|not provided [RCV002650342]	uncertain significance	9	133437891	133437891	Human	1	name
156035878	CV2002638	single nucleotide variant	NM_139027.6(ADAMTS13):c.1669C>T (p.Pro557Ser)	not provided [RCV002658848]	uncertain significance	9	133438330	133438330	Human		name
156354334	CV2004911	single nucleotide variant	NM_139027.6(ADAMTS13):c.1115G>A (p.Arg372His)	Inborn genetic diseases [RCV005321206]\|not provided [RCV002675813]	uncertain significance	9	133433400	133433400	Human	1	name
156317104	CV2018066	deletion	NM_139027.6(ADAMTS13):c.4063del (p.Trp1355fs)	not provided [RCV002671963]	uncertain significance	9	133459127	133459127	Human		name
156151600	CV2023075	single nucleotide variant	NM_139027.6(ADAMTS13):c.1670C>T (p.Pro557Leu)	not provided [RCV002741242]	uncertain significance	9	133438331	133438331	Human		name
155933708	CV2035234	single nucleotide variant	NM_139027.6(ADAMTS13):c.1390G>A (p.Gly464Ser)	not provided [RCV002751304]	likely benign\|conflicting interpretations of pathogenicity	9	133436910	133436910	Human		name
156234440	CV2036316	single nucleotide variant	NM_139027.6(ADAMTS13):c.2302C>T (p.Arg768Cys)	Upshaw-Schulman syndrome [RCV005044983]\|not provided [RCV002805442]	uncertain significance	9	133443443	133443443	Human	1	name
155901419	CV2043603	single nucleotide variant	NM_139027.6(ADAMTS13):c.1340C>T (p.Ser447Leu)	not provided [RCV002770994]	uncertain significance	9	133436860	133436860	Human		name
156293786	CV2047358	single nucleotide variant	NM_139027.6(ADAMTS13):c.1262G>A (p.Arg421His)	Upshaw-Schulman syndrome [RCV005050643]\|not provided [RCV002770879]	uncertain significance	9	133433658	133433658	Human	1	name
156013929	CV2051612	single nucleotide variant	NM_139027.6(ADAMTS13):c.1141G>C (p.Ala381Pro)	not provided [RCV002820273]	uncertain significance	9	133433426	133433426	Human		name
156184701	CV2055609	single nucleotide variant	NM_139027.6(ADAMTS13):c.1447T>C (p.Cys483Arg)	not provided [RCV002828418]\|not specified [RCV004700836]	uncertain significance	9	133437760	133437760	Human		name
156187213	CV2055913	single nucleotide variant	NM_139027.6(ADAMTS13):c.2807C>T (p.Ala936Val)	not provided [RCV002828495]	uncertain significance	9	133448674	133448674	Human		name
155958987	CV2062834	single nucleotide variant	NM_139027.6(ADAMTS13):c.2114G>C (p.Trp705Ser)	not provided [RCV002816674]	uncertain significance	9	133442623	133442623	Human		name
156291061	CV2065004	single nucleotide variant	NM_139027.6(ADAMTS13):c.1298G>A (p.Cys433Tyr)	not provided [RCV002856753]	uncertain significance	9	133433694	133433694	Human		name
156000939	CV2074615	single nucleotide variant	NM_139027.6(ADAMTS13):c.1886G>A (p.Arg629Lys)	not provided [RCV002843401]	uncertain significance	9	133440443	133440443	Human		name
156020252	CV2081405	single nucleotide variant	NM_139027.6(ADAMTS13):c.2828G>A (p.Arg943Gln)	Upshaw-Schulman syndrome [RCV005045020]\|not provided [RCV002866570]	uncertain significance	9	133448695	133448695	Human	1	name
8558931	CV20838	single nucleotide variant	NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly)	Upshaw-Schulman syndrome [RCV000006155]	pathogenic	9	133448718	133448718	Human	1	name
8558934	CV20841	single nucleotide variant	NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)	Upshaw-Schulman syndrome [RCV000006158]	pathogenic\|likely pathogenic\|not provided	9	133433478	133433478	Human	1	name
8558936	CV20843	single nucleotide variant	NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly)	Upshaw-Schulman syndrome [RCV000006160]\|not provided [RCV003480021]	pathogenic\|uncertain significance	9	133437895	133437895	Human	1	name
8558937	CV20844	duplication	NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs)	Upshaw-Schulman syndrome [RCV000006161]	pathogenic	9	133456596	133456597	Human	1	name
8654640	CV20846	duplication	NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs)	Upshaw-Schulman syndrome [RCV000006163]\|not provided [RCV001851691]	pathogenic	9	133459038	133459039	Human	1	name
8558940	CV20848	single nucleotide variant	NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)	Upshaw-Schulman syndrome [RCV000006165]\|not provided [RCV002512822]	pathogenic	9	133442504	133442504	Human	1	name
8558942	CV20850	single nucleotide variant	NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)	Upshaw-Schulman syndrome [RCV000006167]	pathogenic	9	133436865	133436865	Human	1	name
11542238	CV20852	single nucleotide variant	NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu)	Upshaw-Schulman syndrome [RCV000275338]\|not provided [RCV002055012]\|not specified [RCV000241706]	benign	9	133436862	133436862	Human	1	name
8558944	CV20853	single nucleotide variant	NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	Upshaw-Schulman syndrome [RCV000006170]\|not provided [RCV000767050]\|not specified [RCV000251648]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133436943	133436943	Human	1	name
156060854	CV2098500	single nucleotide variant	NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg)	Inborn genetic diseases [RCV003167890]\|Upshaw-Schulman syndrome [RCV005045036]\|not provided [RCV002886503]	likely benign\|uncertain significance	9	133437790	133437790	Human	2	name
156196032	CV2113677	single nucleotide variant	NM_139027.6(ADAMTS13):c.1632G>T (p.Arg544Ser)	Inborn genetic diseases [RCV003250632]\|Upshaw-Schulman syndrome [RCV005045080]\|not provided [RCV002957214]	uncertain significance	9	133438293	133438293	Human	2	name
156093686	CV2114076	single nucleotide variant	NM_139027.6(ADAMTS13):c.2914C>T (p.Arg972Trp)	not provided [RCV002926776]	uncertain significance	9	133449835	133449835	Human		name
156310507	CV2119967	single nucleotide variant	NM_139027.6(ADAMTS13):c.2834T>G (p.Val945Gly)	Inborn genetic diseases [RCV002962592]\|not provided [RCV002962591]	uncertain significance	9	133448701	133448701	Human	1	name
156015458	CV2121357	single nucleotide variant	NM_139027.6(ADAMTS13):c.2764T>G (p.Ser922Ala)	Inborn genetic diseases [RCV002948507]\|not provided [RCV002948508]	uncertain significance	9	133448631	133448631	Human	1	name
155948954	CV2123350	single nucleotide variant	NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)	ADAMTS13-related disorder [RCV003961326]\|Upshaw-Schulman syndrome [RCV005045121]\|not provided [RCV002971749]	likely benign\|conflicting interpretations of pathogenicity	9	133443395	133443395	Human	1	name , alternate_id
156356912	CV2126128	single nucleotide variant	NM_139027.6(ADAMTS13):c.1196C>A (p.Ser399Tyr)	not provided [RCV002966725]	uncertain significance	9	133433481	133433481	Human		name
156244719	CV2126312	single nucleotide variant	NM_139027.6(ADAMTS13):c.1517C>A (p.Thr506Asn)	not provided [RCV002958994]	uncertain significance	9	133437830	133437830	Human		name
156031937	CV2126634	single nucleotide variant	NM_139027.6(ADAMTS13):c.1879G>A (p.Glu627Lys)	not provided [RCV002949265]	uncertain significance	9	133440436	133440436	Human		name
156042719	CV2126987	single nucleotide variant	NM_139027.6(ADAMTS13):c.1499A>C (p.Asp500Ala)	ADAMTS13-related disorder [RCV003943669]\|not provided [RCV002949685]\|not specified [RCV005239572]	likely benign	9	133437812	133437812	Human	1	name , alternate_id
156132189	CV2182209	single nucleotide variant	NM_139027.6(ADAMTS13):c.1559G>A (p.Ser520Asn)	Inborn genetic diseases [RCV003055880]\|not provided [RCV003055879]	uncertain significance	9	133437872	133437872	Human	1	name
156370887	CV2188654	single nucleotide variant	NM_139027.6(ADAMTS13):c.2483A>G (p.Asn828Ser)	not provided [RCV003066276]	uncertain significance	9	133444925	133444925	Human		name
156229113	CV2209303	single nucleotide variant	NM_139027.6(ADAMTS13):c.2125A>T (p.Ser709Cys)	Inborn genetic diseases [RCV002712638]	uncertain significance	9	133442634	133442634	Human	1	name
156188521	CV2226773	single nucleotide variant	NM_139027.6(ADAMTS13):c.1181G>A (p.Ser394Asn)	Inborn genetic diseases [RCV002742704]	uncertain significance	9	133433466	133433466	Human	1	name
155943869	CV2241780	single nucleotide variant	NM_139027.6(ADAMTS13):c.2141C>A (p.Ala714Asp)	Inborn genetic diseases [RCV002752267]	uncertain significance	9	133442650	133442650	Human	1	name
12907370	CV227331	single nucleotide variant	NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)	Upshaw-Schulman syndrome [RCV000490375]\|not provided [RCV002515591]	conflicting interpretations of pathogenicity\|uncertain significance	9	133442676	133442676	Human	1	name
156000455	CV2287386	single nucleotide variant	NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)	Inborn genetic diseases [RCV002865307]\|Upshaw-Schulman syndrome [RCV005047332]\|not specified [RCV003479490]	uncertain significance	9	133439429	133439429	Human	2	name
11093778	CV229677	single nucleotide variant	NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)	Upshaw-Schulman syndrome [RCV002485379]\|not provided [RCV002054940]\|not specified [RCV000220213]	benign\|likely benign	9	133442704	133442704	Human	3	name
11093778	CV229677	single nucleotide variant	NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)	Upshaw-Schulman syndrome [RCV002485379]\|not provided [RCV002054940]\|not specified [RCV000220213]	benign\|likely benign	9	133442704	133442705	Human	3	name
156060493	CV2305410	single nucleotide variant	NM_139027.6(ADAMTS13):c.1320G>T (p.Lys440Asn)	Inborn genetic diseases [RCV002911754]	uncertain significance	9	133436840	133436840	Human	1	name
156087554	CV2336996	single nucleotide variant	NM_139027.6(ADAMTS13):c.2303G>A (p.Arg768His)	Inborn genetic diseases [RCV002952172]\|not provided [RCV003481427]	likely benign\|uncertain significance	9	133443444	133443444	Human	1	name
156181443	CV2338123	single nucleotide variant	NM_139027.6(ADAMTS13):c.1114C>T (p.Arg372Cys)	Inborn genetic diseases [RCV002956428]	uncertain significance	9	133433399	133433399	Human	1	name
156088821	CV2391997	single nucleotide variant	NM_139027.6(ADAMTS13):c.1804C>T (p.Arg602Cys)	Inborn genetic diseases [RCV002784175]\|not provided [RCV004790471]	uncertain significance	9	133440361	133440361	Human	1	name
156221064	CV2392366	single nucleotide variant	NM_139027.6(ADAMTS13):c.2992C>G (p.Leu998Val)	Inborn genetic diseases [RCV002804735]	uncertain significance	9	133449913	133449913	Human	1	name
156269468	CV2398581	single nucleotide variant	NM_139027.6(ADAMTS13):c.1104G>C (p.Lys368Asn)	Inborn genetic diseases [RCV002769947]	uncertain significance	9	133433389	133433389	Human	1	name
11546621	CV253383	single nucleotide variant	NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His)	Upshaw-Schulman syndrome [RCV000375633]\|not provided [RCV000972467]\|not specified [RCV000246702]	benign\|likely benign	9	133436888	133436888	Human	1	name
11545139	CV253385	single nucleotide variant	NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala)	Upshaw-Schulman syndrome [RCV000345892]\|not provided [RCV001651270]\|not specified [RCV000244738]	benign\|likely benign	9	133440409	133440409	Human	2	name
11548285	CV253386	single nucleotide variant	NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His)	Upshaw-Schulman syndrome [RCV000397358]\|not provided [RCV000956760]\|not specified [RCV000248888]	benign\|likely benign	9	133440431	133440431	Human	1	name
11548486	CV253388	single nucleotide variant	NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys)	Upshaw-Schulman syndrome [RCV000312426]\|not provided [RCV000972469]\|not specified [RCV000249156]	benign\|likely benign	9	133442727	133442727	Human	1	name
11548185	CV253391	single nucleotide variant	NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val)	Upshaw-Schulman syndrome [RCV000373306]\|not provided [RCV001668602]\|not specified [RCV000248759]	benign\|likely benign	9	133445787	133445787	Human	1	name
401717893	CV2704065	single nucleotide variant	NM_139027.6(ADAMTS13):c.1813G>A (p.Val605Met)	Inborn genetic diseases [RCV003266292]	uncertain significance	9	133440370	133440370	Human	1	name
401763156	CV2710462	single nucleotide variant	NM_139027.6(ADAMTS13):c.1366C>G (p.Gln456Glu)	Inborn genetic diseases [RCV003258120]\|not provided [RCV003481480]	uncertain significance	9	133436886	133436886	Human	1	name
401760474	CV2718852	single nucleotide variant	NM_139027.6(ADAMTS13):c.1553C>G (p.Thr518Ser)	Inborn genetic diseases [RCV003299536]	uncertain significance	9	133437866	133437866	Human	1	name
401855695	CV2753113	single nucleotide variant	NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)	Upshaw-Schulman syndrome [RCV003338169]	likely pathogenic	9	133440478	133440478	Human	1	name
401913777	CV2797653	single nucleotide variant	NM_139027.6(ADAMTS13):c.2408C>T (p.Pro803Leu)	ADAMTS13-related disorder [RCV003427981]	uncertain significance	9	133443549	133443549	Human		name , trait , alternate_id
401936442	CV2803228	single nucleotide variant	NM_139027.6(ADAMTS13):c.2224T>C (p.Cys742Arg)	ADAMTS13-related disorder [RCV003414361]	uncertain significance	9	133442733	133442733	Human		name , trait , alternate_id
401961779	CV2844101	single nucleotide variant	NM_139027.6(ADAMTS13):c.1007C>G (p.Ser336Cys)	not provided [RCV003481941]	uncertain significance	9	133432607	133432607	Human		name
401961780	CV2844102	single nucleotide variant	NM_139027.6(ADAMTS13):c.1432C>G (p.Gln478Glu)	Upshaw-Schulman syndrome [RCV005047623]\|not provided [RCV003481942]	uncertain significance	9	133436952	133436952	Human	1	name
401961782	CV2844104	single nucleotide variant	NM_139027.6(ADAMTS13):c.2016C>G (p.Asp672Glu)	not provided [RCV003481944]	uncertain significance	9	133442446	133442446	Human		name
401961784	CV2844106	single nucleotide variant	NM_139027.6(ADAMTS13):c.2524G>A (p.Val842Met)	not provided [RCV003481946]	uncertain significance	9	133444966	133444966	Human		name
401961298	CV2844683	single nucleotide variant	NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)	not provided [RCV003480481]	pathogenic\|likely pathogenic	9	133443458	133443458	Human		name
402490142	CV2866643	deletion	NM_139027.6(ADAMTS13):c.3573del (p.Leu1192fs)	not provided [RCV003572934]	pathogenic	9	133456567	133456567	Human		name
402494076	CV2874322	single nucleotide variant	NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)	ADAMTS13-related disorder [RCV003966462]\|Inborn genetic diseases [RCV005323464]\|Upshaw-Schulman syndrome [RCV005051323]\|not provided [RCV003545210]\|not specified [RCV004526262]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133433394	133433394	Human	2	name , alternate_id
405214867	CV2876019	single nucleotide variant	NM_139027.6(ADAMTS13):c.2351G>A (p.Arg784Gln)	not provided [RCV003553086]	uncertain significance	9	133443492	133443492	Human		name
405237033	CV2973430	single nucleotide variant	NM_139027.6(ADAMTS13):c.1024C>A (p.Leu342Met)	not provided [RCV003683154]	uncertain significance	9	133432624	133432624	Human		name
405219709	CV3035141	single nucleotide variant	NM_139027.6(ADAMTS13):c.2398A>G (p.Asn800Asp)	not provided [RCV003709787]	uncertain significance	9	133443539	133443539	Human		name
11601081	CV307293	single nucleotide variant	NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	ADAMTS13-related disorder [RCV003902425]\|Atypical hemolytic-uremic syndrome [RCV001328115]\|Upshaw-Schulman syndrome [RCV000279550]\|not provided [RCV000886026]\|not specified [RCV001420918]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133436890	133436890	Human	3	name , alternate_id
11601081	CV307293	single nucleotide variant	NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	ADAMTS13-related disorder [RCV003902425]\|Atypical hemolytic-uremic syndrome [RCV001328115]\|Upshaw-Schulman syndrome [RCV000279550]\|not provided [RCV000886026]\|not specified [RCV001420918]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133436890	133436891	Human	3	name , alternate_id
11604183	CV307301	single nucleotide variant	NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys)	Upshaw-Schulman syndrome [RCV000306805]	uncertain significance	9	133440487	133440487	Human	1	name
11598744	CV307304	single nucleotide variant	NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)	Upshaw-Schulman syndrome [RCV000259864]\|not provided [RCV002523749]	benign\|likely benign	9	133445796	133445796	Human	1	name
11601730	CV311601	single nucleotide variant	NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)	Upshaw-Schulman syndrome [RCV000284710]\|not provided [RCV002523750]	likely benign\|uncertain significance	9	133449836	133449836	Human	1	name
405095465	CV3119054	single nucleotide variant	NM_139027.6(ADAMTS13):c.1108C>T (p.Arg370Cys)	not provided [RCV003811505]\|not specified [RCV005240942]	uncertain significance	9	133433393	133433393	Human		name
405232774	CV3157640	single nucleotide variant	NM_139027.6(ADAMTS13):c.1958C>G (p.Ala653Gly)	not provided [RCV003865590]	uncertain significance	9	133440515	133440515	Human		name
405238136	CV3167027	single nucleotide variant	NM_139027.6(ADAMTS13):c.2050C>T (p.Gln684Ter)	not provided [RCV003854282]	pathogenic	9	133442480	133442480	Human		name
402483108	CV3170923	single nucleotide variant	NM_139027.6(ADAMTS13):c.2048G>A (p.Arg683Gln)	not provided [RCV003876126]	uncertain significance	9	133442478	133442478	Human		name
11609331	CV317546	single nucleotide variant	NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)	Inborn genetic diseases [RCV004022108]\|Upshaw-Schulman syndrome [RCV000367074]\|not provided [RCV000597955]	conflicting interpretations of pathogenicity\|uncertain significance	9	133443449	133443449	Human	2	name
405675659	CV3306797	single nucleotide variant	NM_139027.6(ADAMTS13):c.1491G>T (p.Lys497Asn)	Inborn genetic diseases [RCV004442363]	uncertain significance	9	133437804	133437804	Human	1	name
405675862	CV3306835	single nucleotide variant	NM_139027.6(ADAMTS13):c.2116G>A (p.Val706Ile)	Inborn genetic diseases [RCV004442402]	uncertain significance	9	133442625	133442625	Human	1	name
405685966	CV3306851	single nucleotide variant	NM_139027.6(ADAMTS13):c.2416G>T (p.Ala806Ser)	Inborn genetic diseases [RCV004444401]	uncertain significance	9	133443557	133443557	Human	1	name
405686055	CV3306869	single nucleotide variant	NM_139027.6(ADAMTS13):c.2843C>T (p.Ala948Val)	Inborn genetic diseases [RCV004444419]\|Upshaw-Schulman syndrome [RCV005051437]	uncertain significance	9	133448710	133448710	Human	2	name
405867816	CV3396523	single nucleotide variant	NM_139027.6(ADAMTS13):c.2011C>T (p.Pro671Ser)	Upshaw-Schulman syndrome [RCV004560394]	uncertain significance	9	133442441	133442441	Human	1	name
408395060	CV3521995	single nucleotide variant	NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)	Upshaw-Schulman syndrome [RCV004765392]	pathogenic	9	133449786	133449786	Human	1	name
596932480	CV3539100	single nucleotide variant	NM_139027.6(ADAMTS13):c.1084G>A (p.Val362Met)	Upshaw-Schulman syndrome [RCV005051488]\|not provided [RCV004793226]	uncertain significance	9	133432684	133432684	Human	1	name
596932481	CV3539101	single nucleotide variant	NM_139027.6(ADAMTS13):c.1463G>A (p.Arg488Gln)	Upshaw-Schulman syndrome [RCV005051489]\|not provided [RCV004793227]\|not specified [RCV005407349]	uncertain significance	9	133437776	133437776	Human	1	name
596932482	CV3539102	single nucleotide variant	NM_139027.6(ADAMTS13):c.1795A>C (p.Ile599Leu)	not provided [RCV004793228]	uncertain significance	9	133440352	133440352	Human		name
596932483	CV3539103	single nucleotide variant	NM_139027.6(ADAMTS13):c.2552A>G (p.Glu851Gly)	not provided [RCV004793229]	uncertain significance	9	133444994	133444994	Human		name
596932484	CV3539104	single nucleotide variant	NM_139027.6(ADAMTS13):c.2814G>T (p.Lys938Asn)	not provided [RCV004793230]	uncertain significance	9	133448681	133448681	Human		name
596932485	CV3539105	single nucleotide variant	NM_139027.6(ADAMTS13):c.2824C>T (p.Arg942Trp)	not provided [RCV004793231]	uncertain significance	9	133448691	133448691	Human		name
596946809	CV3548641	single nucleotide variant	NM_139027.6(ADAMTS13):c.1192C>G (p.Arg398Gly)	not provided [RCV004810469]	likely pathogenic	9	133433477	133433477	Human		name
597628082	CV3642106	single nucleotide variant	NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile)	Inborn genetic diseases [RCV004967751]\|Upshaw-Schulman syndrome [RCV005040830]	likely benign\|uncertain significance	9	133432654	133432654	Human	2	name
597655478	CV3642114	single nucleotide variant	NM_139027.6(ADAMTS13):c.2227C>A (p.Pro743Thr)	Inborn genetic diseases [RCV004976256]	uncertain significance	9	133442736	133442736	Human	1	name
597655470	CV3642129	single nucleotide variant	NM_139027.6(ADAMTS13):c.1133C>A (p.Thr378Asn)	Inborn genetic diseases [RCV004976257]	uncertain significance	9	133433418	133433418	Human	1	name
597655464	CV3642133	single nucleotide variant	NM_139027.6(ADAMTS13):c.2348C>T (p.Ala783Val)	Inborn genetic diseases [RCV004976258]	uncertain significance	9	133443489	133443489	Human	1	name
597655095	CV3649148	single nucleotide variant	NM_139027.6(ADAMTS13):c.2485G>A (p.Glu829Lys)	Inborn genetic diseases [RCV004976261]	uncertain significance	9	133444927	133444927	Human	1	name
597654937	CV3649158	single nucleotide variant	NM_139027.6(ADAMTS13):c.1401C>G (p.Phe467Leu)	Inborn genetic diseases [RCV004976262]	uncertain significance	9	133436921	133436921	Human	1	name
597687825	CV3726078	deletion	NM_139027.6(ADAMTS13):c.4082del (p.Asp1361fs)	Upshaw-Schulman syndrome [RCV005046039]	uncertain significance	9	133459146	133459146	Human	1	name
597686992	CV3729429	single nucleotide variant	NM_139027.6(ADAMTS13):c.1045C>A (p.Arg349Ser)	Upshaw-Schulman syndrome [RCV005045954]	uncertain significance	9	133432645	133432645	Human	1	name
597687001	CV3729430	single nucleotide variant	NM_139027.6(ADAMTS13):c.1087G>A (p.Glu363Lys)	Upshaw-Schulman syndrome [RCV005045955]	uncertain significance	9	133432687	133432687	Human	1	name
597713763	CV3729433	single nucleotide variant	NM_139027.6(ADAMTS13):c.1123G>T (p.Val375Leu)	Upshaw-Schulman syndrome [RCV005048958]	uncertain significance	9	133433408	133433408	Human	1	name
597687019	CV3729434	single nucleotide variant	NM_139027.6(ADAMTS13):c.1135C>T (p.Pro379Ser)	Upshaw-Schulman syndrome [RCV005045957]	uncertain significance	9	133433420	133433420	Human	1	name
597713776	CV3729435	single nucleotide variant	NM_139027.6(ADAMTS13):c.1150C>T (p.His384Tyr)	Upshaw-Schulman syndrome [RCV005048959]	uncertain significance	9	133433435	133433435	Human	1	name
597687028	CV3729436	single nucleotide variant	NM_139027.6(ADAMTS13):c.1167C>G (p.Ser389Arg)	Upshaw-Schulman syndrome [RCV005045958]	uncertain significance	9	133433452	133433452	Human	1	name
597713787	CV3729437	single nucleotide variant	NM_139027.6(ADAMTS13):c.1180A>T (p.Ser394Cys)	Upshaw-Schulman syndrome [RCV005048960]	uncertain significance	9	133433465	133433465	Human	1	name
597687047	CV3729440	single nucleotide variant	NM_139027.6(ADAMTS13):c.1291G>A (p.Glu431Lys)	Upshaw-Schulman syndrome [RCV005045960]	uncertain significance	9	133433687	133433687	Human	1	name
597713808	CV3729441	single nucleotide variant	NM_139027.6(ADAMTS13):c.1296G>A (p.Met432Ile)	Upshaw-Schulman syndrome [RCV005048962]	uncertain significance	9	133433692	133433692	Human	1	name
597687057	CV3729443	single nucleotide variant	NM_139027.6(ADAMTS13):c.1360G>C (p.Asp454His)	Upshaw-Schulman syndrome [RCV005045961]	uncertain significance	9	133436880	133436880	Human	1	name
597687067	CV3729444	single nucleotide variant	NM_139027.6(ADAMTS13):c.1363G>C (p.Gly455Arg)	Upshaw-Schulman syndrome [RCV005045962]	uncertain significance	9	133436883	133436883	Human	1	name
597687076	CV3729445	single nucleotide variant	NM_139027.6(ADAMTS13):c.1363G>T (p.Gly455Cys)	Upshaw-Schulman syndrome [RCV005045963]	uncertain significance	9	133436883	133436883	Human	1	name
597687087	CV3729446	single nucleotide variant	NM_139027.6(ADAMTS13):c.1376G>A (p.Arg459His)	Upshaw-Schulman syndrome [RCV005045964]	uncertain significance	9	133436896	133436896	Human	1	name
597713846	CV3729450	single nucleotide variant	NM_139027.6(ADAMTS13):c.1506C>G (p.Phe502Leu)	Upshaw-Schulman syndrome [RCV005048965]	uncertain significance	9	133437819	133437819	Human	1	name
597713858	CV3729451	single nucleotide variant	NM_139027.6(ADAMTS13):c.1531A>G (p.Ser511Gly)	Upshaw-Schulman syndrome [RCV005048966]	uncertain significance	9	133437844	133437844	Human	1	name
597687116	CV3729452	single nucleotide variant	NM_139027.6(ADAMTS13):c.1538C>G (p.Pro513Arg)	Upshaw-Schulman syndrome [RCV005045967]	uncertain significance	9	133437851	133437851	Human	1	name
597687126	CV3729453	single nucleotide variant	NM_139027.6(ADAMTS13):c.1543G>A (p.Glu515Lys)	Upshaw-Schulman syndrome [RCV005045968]	uncertain significance	9	133437856	133437856	Human	1	name
597713869	CV3729454	single nucleotide variant	NM_139027.6(ADAMTS13):c.1571C>T (p.Ser524Leu)	Upshaw-Schulman syndrome [RCV005048967]	uncertain significance	9	133437884	133437884	Human	1	name
597687159	CV3729456	single nucleotide variant	NM_139027.6(ADAMTS13):c.1601G>A (p.Gly534Asp)	Upshaw-Schulman syndrome [RCV005045971]\|not provided [RCV005063335]	uncertain significance	9	133438262	133438262	Human	1	name
597687171	CV3729457	single nucleotide variant	NM_139027.6(ADAMTS13):c.1627G>T (p.Asp543Tyr)	Upshaw-Schulman syndrome [RCV005045972]	uncertain significance	9	133438288	133438288	Human	1	name
597687180	CV3729458	single nucleotide variant	NM_139027.6(ADAMTS13):c.1672C>T (p.Arg558Trp)	Upshaw-Schulman syndrome [RCV005045973]	uncertain significance	9	133438333	133438333	Human	1	name
597687191	CV3729460	single nucleotide variant	NM_139027.6(ADAMTS13):c.1687A>G (p.Thr563Ala)	Upshaw-Schulman syndrome [RCV005045974]	uncertain significance	9	133438348	133438348	Human	1	name
597687238	CV3729464	single nucleotide variant	NM_139027.6(ADAMTS13):c.1801G>A (p.Gly601Arg)	Upshaw-Schulman syndrome [RCV005045979]	uncertain significance	9	133440358	133440358	Human	1	name
597687246	CV3729465	single nucleotide variant	NM_139027.6(ADAMTS13):c.1850A>G (p.Tyr617Cys)	Upshaw-Schulman syndrome [RCV005045980]	uncertain significance	9	133440407	133440407	Human	1	name
597713881	CV3729466	single nucleotide variant	NM_139027.6(ADAMTS13):c.1873C>T (p.Arg625Cys)	Upshaw-Schulman syndrome [RCV005048968]	uncertain significance	9	133440430	133440430	Human	1	name
597687255	CV3729467	single nucleotide variant	NM_139027.6(ADAMTS13):c.1900G>A (p.Glu634Lys)	Upshaw-Schulman syndrome [RCV005045981]	uncertain significance	9	133440457	133440457	Human	1	name
597687266	CV3729469	single nucleotide variant	NM_139027.6(ADAMTS13):c.1907G>A (p.Arg636Gln)	Upshaw-Schulman syndrome [RCV005045982]	uncertain significance	9	133440464	133440464	Human	1	name
597687309	CV3729472	single nucleotide variant	NM_139027.6(ADAMTS13):c.1978C>T (p.Arg660Trp)	Upshaw-Schulman syndrome [RCV005045986]	uncertain significance	9	133442408	133442408	Human	1	name
597687318	CV3729473	single nucleotide variant	NM_139027.6(ADAMTS13):c.2056T>C (p.Trp686Arg)	Upshaw-Schulman syndrome [RCV005045987]	uncertain significance	9	133442486	133442486	Human	1	name
597687353	CV3729476	single nucleotide variant	NM_139027.6(ADAMTS13):c.2099G>C (p.Gly700Ala)	Upshaw-Schulman syndrome [RCV005045990]	uncertain significance	9	133442529	133442529	Human	1	name
597687371	CV3729478	single nucleotide variant	NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)	Upshaw-Schulman syndrome [RCV005045992]	likely pathogenic	9	133442682	133442682	Human	1	name
597687380	CV3729479	single nucleotide variant	NM_139027.6(ADAMTS13):c.2197T>C (p.Trp733Arg)	Upshaw-Schulman syndrome [RCV005045993]	uncertain significance	9	133442706	133442706	Human	1	name
597687390	CV3729480	single nucleotide variant	NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)	Upshaw-Schulman syndrome [RCV005045994]	likely pathogenic	9	133443378	133443378	Human	1	name
597713891	CV3729481	single nucleotide variant	NM_139027.6(ADAMTS13):c.2278G>A (p.Gly760Ser)	Upshaw-Schulman syndrome [RCV005048969]	uncertain significance	9	133443419	133443419	Human	1	name
597713915	CV3729483	single nucleotide variant	NM_139027.6(ADAMTS13):c.2302C>G (p.Arg768Gly)	Upshaw-Schulman syndrome [RCV005048971]	uncertain significance	9	133443443	133443443	Human	1	name
597687409	CV3729484	single nucleotide variant	NM_139027.6(ADAMTS13):c.2362G>A (p.Gly788Arg)	Upshaw-Schulman syndrome [RCV005045996]	uncertain significance	9	133443503	133443503	Human	1	name
597687418	CV3729485	single nucleotide variant	NM_139027.6(ADAMTS13):c.2384C>A (p.Ala795Glu)	Upshaw-Schulman syndrome [RCV005045997]	uncertain significance	9	133443525	133443525	Human	1	name
597687428	CV3729486	single nucleotide variant	NM_139027.6(ADAMTS13):c.2393C>A (p.Thr798Asn)	Upshaw-Schulman syndrome [RCV005045998]	uncertain significance	9	133443534	133443534	Human	1	name
597687453	CV3729489	single nucleotide variant	NM_139027.6(ADAMTS13):c.2437C>A (p.Pro813Thr)	Upshaw-Schulman syndrome [RCV005046001]	uncertain significance	9	133444879	133444879	Human	1	name
597713924	CV3729490	single nucleotide variant	NM_139027.6(ADAMTS13):c.2512C>G (p.Leu838Val)	Upshaw-Schulman syndrome [RCV005048972]	uncertain significance	9	133444954	133444954	Human	1	name
597687476	CV3729492	single nucleotide variant	NM_139027.6(ADAMTS13):c.2563G>A (p.Ala855Thr)	Upshaw-Schulman syndrome [RCV005046003]	uncertain significance	9	133445005	133445005	Human	1	name
597687487	CV3729493	single nucleotide variant	NM_139027.6(ADAMTS13):c.2590T>C (p.Cys864Arg)	Upshaw-Schulman syndrome [RCV005046004]	uncertain significance	9	133445032	133445032	Human	1	name
597687496	CV3729494	single nucleotide variant	NM_139027.6(ADAMTS13):c.2606G>C (p.Gly869Ala)	Upshaw-Schulman syndrome [RCV005046005]	uncertain significance	9	133445048	133445048	Human	1	name
597713946	CV3729495	single nucleotide variant	NM_139027.6(ADAMTS13):c.2609A>T (p.His870Leu)	Upshaw-Schulman syndrome [RCV005048974]	uncertain significance	9	133445051	133445051	Human	1	name
597687508	CV3729498	single nucleotide variant	NM_139027.6(ADAMTS13):c.2710T>C (p.Cys904Arg)	Upshaw-Schulman syndrome [RCV005046006]	uncertain significance	9	133445798	133445798	Human	1	name
597687516	CV3729499	single nucleotide variant	NM_139027.6(ADAMTS13):c.2729G>A (p.Arg910Gln)	Upshaw-Schulman syndrome [RCV005046007]	uncertain significance	9	133445817	133445817	Human	1	name
597687525	CV3729500	single nucleotide variant	NM_139027.6(ADAMTS13):c.2849C>T (p.Pro950Leu)	Upshaw-Schulman syndrome [RCV005046008]	uncertain significance	9	133448716	133448716	Human	1	name
597687542	CV3729503	single nucleotide variant	NM_139027.6(ADAMTS13):c.2879C>T (p.Ala960Val)	Upshaw-Schulman syndrome [RCV005046010]	uncertain significance	9	133449800	133449800	Human	1	name
597687560	CV3729504	single nucleotide variant	NM_139027.6(ADAMTS13):c.2885G>A (p.Cys962Tyr)	Upshaw-Schulman syndrome [RCV005046012]	uncertain significance	9	133449806	133449806	Human	1	name
597687570	CV3729505	single nucleotide variant	NM_139027.6(ADAMTS13):c.2957G>A (p.Gly986Asp)	Upshaw-Schulman syndrome [RCV005046013]	uncertain significance	9	133449878	133449878	Human	1	name
597713981	CV3729506	single nucleotide variant	NM_139027.6(ADAMTS13):c.2989G>A (p.Gly997Arg)	Upshaw-Schulman syndrome [RCV005048977]	uncertain significance	9	133449910	133449910	Human	1	name
597713993	CV3729507	single nucleotide variant	NM_139027.6(ADAMTS13):c.2990G>A (p.Gly997Glu)	Upshaw-Schulman syndrome [RCV005048978]	uncertain significance	9	133449911	133449911	Human	1	name
597896984	CV3744537	deletion	NM_139027.6(ADAMTS13):c.3514del (p.Arg1172fs)	not provided [RCV005071815]	pathogenic	9	133456181	133456181	Human		name
597875490	CV3775633	single nucleotide variant	NM_139027.6(ADAMTS13):c.2642C>T (p.Pro881Leu)	not provided [RCV005123364]	uncertain significance	9	133445730	133445730	Human		name
8624584	CV38438	single nucleotide variant	NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr)	not provided [RCV000059755]	not provided	9	133437836	133437836	Human		name
597928267	CV3851760	deletion	NM_139027.6(ADAMTS13):c.3153del (p.Asp1051fs)	not provided [RCV005206228]	pathogenic	9	133454523	133454523	Human		name
598210209	CV3895047	single nucleotide variant	NM_139027.6(ADAMTS13):c.2663G>A (p.Arg888Lys)	Upshaw-Schulman syndrome [RCV005358501]	uncertain significance	9	133445751	133445751	Human	1	name
598166869	CV3950871	single nucleotide variant	NM_139027.6(ADAMTS13):c.2075G>A (p.Arg692His)	Inborn genetic diseases [RCV005307954]	uncertain significance	9	133442505	133442505	Human	1	name
598167194	CV3950953	single nucleotide variant	NM_139027.6(ADAMTS13):c.2549A>T (p.Asp850Val)	Inborn genetic diseases [RCV005308020]	uncertain significance	9	133444991	133444991	Human	1	name
616932962	CV4010461	single nucleotide variant	NM_139027.6(ADAMTS13):c.2153T>A (p.Leu718Ter)	Upshaw-Schulman syndrome [RCV005403806]	pathogenic	9	133442662	133442662	Human	1	name
617151545	CV4018121	single nucleotide variant	NM_139027.6(ADAMTS13):c.1226G>A (p.Arg409Gln)	not specified [RCV005417911]	uncertain significance	9	133433511	133433511	Human		name
13446078	CV438428	single nucleotide variant	NM_139027.6(ADAMTS13):c.1976G>A (p.Arg659Lys)	Upshaw-Schulman syndrome [RCV005049580]\|not provided [RCV000513247]	uncertain significance	9	133442406	133442406	Human	1	name
13479054	CV444392	single nucleotide variant	NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)	See cases [RCV003128409]\|Upshaw-Schulman syndrome [RCV001253918]\|not provided [RCV000520845]\|not specified [RCV004701597]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	9	133433657	133433657	Human	1	name
13518978	CV489471	single nucleotide variant	NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr)	Inborn genetic diseases [RCV002532398]\|Upshaw-Schulman syndrome [RCV001168971]\|not provided [RCV000597710]	uncertain significance	9	133440398	133440398	Human	2	name
13789253	CV550311	single nucleotide variant	NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg)	Thrombotic thrombocytopenic purpura [RCV000677341]	pathogenic	9	133442718	133442718	Human	1	name
13832209	CV582701	single nucleotide variant	NM_139027.6(ADAMTS13):c.1522T>C (p.Cys508Arg)	not provided [RCV000722893]	uncertain significance	9	133437835	133437835	Human		name
15188039	CV700870	single nucleotide variant	NM_139027.6(ADAMTS13):c.1016C>G (p.Thr339Arg)	ADAMTS13-related disorder [RCV003925988]\|not provided [RCV000953764]	benign\|likely benign	9	133432616	133432616	Human	1	name , alternate_id
15159133	CV700873	single nucleotide variant	NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met)	Upshaw-Schulman syndrome [RCV001168293]\|not provided [RCV000947212]\|not specified [RCV001818937]	benign\|likely benign	9	133444936	133444936	Human	1	name
15185629	CV723417	single nucleotide variant	NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu)	Upshaw-Schulman syndrome [RCV001168910]\|not provided [RCV000886749]	benign	9	133432622	133432622	Human	1	name
8624579	CV79690	single nucleotide variant	NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser)	not provided [RCV000059750]	not provided	9	133432639	133432639	Human		name
8624580	CV79691	single nucleotide variant	NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)	not provided [RCV000059751]	pathogenic\|not provided	9	133432645	133432645	Human		name
8624581	CV79692	single nucleotide variant	NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)	Upshaw-Schulman syndrome [RCV005042186]\|not provided [RCV000059752]	likely pathogenic\|not provided	9	133432658	133432658	Human	1	name
8624582	CV79693	single nucleotide variant	NM_139027.6(ADAMTS13):c.1170G>C (p.Trp390Cys)	not provided [RCV000059753]	not provided	9	133433455	133433455	Human		name
8624583	CV79694	single nucleotide variant	NM_139027.6(ADAMTS13):c.1520G>A (p.Arg507Gln)	not provided [RCV000059754]	not provided	9	133437833	133437833	Human		name
8624585	CV79695	single nucleotide variant	NM_139027.6(ADAMTS13):c.1574G>A (p.Gly525Asp)	not provided [RCV000059756]	not provided	9	133437887	133437887	Human		name
8624586	CV79696	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val)	Thrombotic thrombocytopenic purpura [RCV000852051]\|not provided [RCV000059757]	pathogenic\|not provided	9	133440344	133440344	Human	1	name
8624587	CV79697	single nucleotide variant	NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro)	Upshaw-Schulman syndrome [RCV005049418]\|not provided [RCV000059758]	uncertain significance\|not provided	9	133440373	133440373	Human	1	name
8624588	CV79698	single nucleotide variant	NM_139027.6(ADAMTS13):c.1973A>G (p.Tyr658Cys)	not provided [RCV000059759]	not provided	9	133442403	133442403	Human		name
8624589	CV79699	single nucleotide variant	NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu)	Upshaw-Schulman syndrome [RCV005049419]\|not provided [RCV000059760]	uncertain significance\|not provided	9	133442442	133442442	Human	1	name
8624590	CV79700	single nucleotide variant	NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)	Upshaw-Schulman syndrome [RCV000779575]\|not provided [RCV000059761]	likely pathogenic\|not provided	9	133442447	133442447	Human	1	name
8624591	CV79701	single nucleotide variant	NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)	Upshaw-Schulman syndrome [RCV005042187]\|not provided [RCV000059762]	likely pathogenic\|not provided	9	133443413	133443413	Human	1	name
8624594	CV79704	single nucleotide variant	NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr)	not provided [RCV000059765]	not provided	9	133445811	133445811	Human		name
8624595	CV79705	single nucleotide variant	NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser)	not provided [RCV000059766]	not provided	9	133445811	133445811	Human		name
28885901	CV901341	single nucleotide variant	NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)	Upshaw-Schulman syndrome [RCV001168911]\|not provided [RCV002557458]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133433441	133433441	Human	1	name
28885907	CV901342	single nucleotide variant	NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)	Upshaw-Schulman syndrome [RCV001168912]\|not provided [RCV001859095]	conflicting interpretations of pathogenicity\|uncertain significance	9	133433442	133433442	Human	1	name
28886125	CV901347	single nucleotide variant	NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val)	Upshaw-Schulman syndrome [RCV001168970]	uncertain significance	9	133440388	133440388	Human	1	name
28876187	CV901350	single nucleotide variant	NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)	Inborn genetic diseases [RCV004032882]\|Upshaw-Schulman syndrome [RCV001166073]\|not provided [RCV004695084]	likely benign\|uncertain significance	9	133440473	133440473	Human	2	name
28876192	CV901351	single nucleotide variant	NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met)	Upshaw-Schulman syndrome [RCV001166074]	uncertain significance	9	133442519	133442519	Human	1	name
28883726	CV901353	single nucleotide variant	NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr)	Upshaw-Schulman syndrome [RCV001168292]	uncertain significance	9	133443506	133443506	Human	1	name
28883734	CV901354	single nucleotide variant	NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser)	Upshaw-Schulman syndrome [RCV001168294]	uncertain significance	9	133444951	133444951	Human	1	name
28883740	CV901355	single nucleotide variant	NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)	ADAMTS13-related disorder [RCV003928768]\|Thrombus [RCV002280897]\|Upshaw-Schulman syndrome [RCV001168295]\|not provided [RCV001356938]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	133444987	133444987	Human	2	name , alternate_id
28886304	CV901356	single nucleotide variant	NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp)	Upshaw-Schulman syndrome [RCV001169025]	uncertain significance	9	133448694	133448694	Human	1	name
28886308	CV901357	single nucleotide variant	NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)	Upshaw-Schulman syndrome [RCV001169026]\|not provided [RCV002557462]	uncertain significance	9	133448728	133448728	Human	1	name
28876379	CV901358	single nucleotide variant	NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)	Upshaw-Schulman syndrome [RCV001166126]\|not provided [RCV002559590]\|not specified [RCV003994226]	likely benign\|uncertain significance	9	133449811	133449811	Human	1	name
28876382	CV901359	single nucleotide variant	NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala)	Upshaw-Schulman syndrome [RCV001166127]	uncertain significance	9	133449833	133449833	Human	1	name
152134775	CV901360	single nucleotide variant	NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)	Upshaw-Schulman syndrome [RCV003138076]\|not provided [RCV002119552]\|not specified [RCV003235673]	likely benign\|uncertain significance	9	133449865	133449865	Human	1	name
126745512	CV976115	single nucleotide variant	NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)	Atypical hemolytic-uremic syndrome [RCV001328113]\|not provided [RCV002537718]\|not specified [RCV003399043]	uncertain significance	9	133436871	133436871	Human	1	name
126745515	CV976116	single nucleotide variant	NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln)	Atypical hemolytic-uremic syndrome [RCV001328114]\|not provided [RCV003770405]\|not specified [RCV003399044]	uncertain significance	9	133442409	133442409	Human	1	name
40903133	CV976761	single nucleotide variant	NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter)	Abnormal bleeding [RCV001270504]	pathogenic	9	133436835	133436835	Human	2	name
126914751	CV1037914	single nucleotide variant	NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)	Upshaw-Schulman syndrome [RCV005040211]\|not provided [RCV001358530]	pathogenic\|likely pathogenic\|uncertain significance	9	133455319	133455319	Human	1	name
126913445	CV1037916	single nucleotide variant	NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln)	Inborn genetic diseases [RCV004611781]\|Upshaw-Schulman syndrome [RCV002504578]\|not provided [RCV001357381]\|not specified [RCV001820056]	uncertain significance	9	133458024	133458024	Human	2	name
127287242	CV1152400	single nucleotide variant	NM_139027.6(ADAMTS13):c.3223C>T (p.Arg1075Cys)	not provided [RCV001507772]	uncertain significance	9	133454593	133454593	Human		name
127288609	CV1152403	single nucleotide variant	NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys)	Inborn genetic diseases [RCV002567994]\|Upshaw-Schulman syndrome [RCV002488310]\|not provided [RCV001508644]	uncertain significance	9	133456099	133456099	Human	2	name
127288612	CV1152404	single nucleotide variant	NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln)	Upshaw-Schulman syndrome [RCV005040301]\|not provided [RCV001508645]	likely pathogenic\|uncertain significance	9	133456156	133456156	Human	1	name
151717735	CV1335027	single nucleotide variant	NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)	Upshaw-Schulman syndrome [RCV005040408]\|not provided [RCV001843981]	pathogenic	9	133456150	133456150	Human	1	name
151794836	CV1504349	single nucleotide variant	NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)	Inborn genetic diseases [RCV005308674]\|Upshaw-Schulman syndrome [RCV002492324]\|not provided [RCV002011031]	likely benign\|uncertain significance	9	133455352	133455352	Human	2	name
153346147	CV1692632	single nucleotide variant	NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)	Upshaw-Schulman syndrome [RCV002274487]	likely pathogenic	9	133455286	133455286	Human	1	name
155267947	CV1701473	single nucleotide variant	NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)	Upshaw-Schulman syndrome [RCV002283699]	pathogenic	9	133454612	133454612	Human	1	name
155643495	CV1706756	single nucleotide variant	NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)	See cases [RCV004584566]\|Upshaw-Schulman syndrome [RCV003138155]\|not provided [RCV003097735]	uncertain significance	9	133456088	133456088	Human	1	name
156044982	CV1867446	single nucleotide variant	NM_139027.6(ADAMTS13):c.3623C>T (p.Ser1208Phe)	not provided [RCV002509918]	uncertain significance	9	133456618	133456618	Human		name
156307080	CV1877841	single nucleotide variant	NM_139027.6(ADAMTS13):c.3661C>T (p.Arg1221Trp)	Upshaw-Schulman syndrome [RCV005045193]\|not provided [RCV003062242]	uncertain significance	9	133456656	133456656	Human	1	name
156321538	CV1897882	single nucleotide variant	NM_139027.6(ADAMTS13):c.3652C>T (p.Arg1218Cys)	not provided [RCV002579274]	uncertain significance	9	133456647	133456647	Human		name
155944925	CV1911226	single nucleotide variant	NM_139027.6(ADAMTS13):c.3763G>A (p.Val1255Met)	Inborn genetic diseases [RCV004978682]\|not provided [RCV002615875]	uncertain significance	9	133457948	133457948	Human	1	name
155945737	CV1911287	single nucleotide variant	NM_139027.6(ADAMTS13):c.3107C>T (p.Ser1036Leu)	not provided [RCV002615921]	uncertain significance	9	133454477	133454477	Human		name
156304486	CV1916329	single nucleotide variant	NM_139027.6(ADAMTS13):c.3794A>T (p.Asn1265Ile)	not provided [RCV002599332]	uncertain significance	9	133457979	133457979	Human		name
156437057	CV1936885	single nucleotide variant	NM_139027.6(ADAMTS13):c.3686G>A (p.Arg1229Gln)	not provided [RCV003106586]	uncertain significance	9	133456681	133456681	Human		name
156279087	CV1967818	single nucleotide variant	NM_139027.6(ADAMTS13):c.3835G>A (p.Ala1279Thr)	not provided [RCV002598336]	uncertain significance	9	133458020	133458020	Human		name
156175040	CV1968561	single nucleotide variant	NM_139027.6(ADAMTS13):c.3820A>G (p.Asn1274Asp)	Upshaw-Schulman syndrome [RCV005042910]\|not provided [RCV002594890]	uncertain significance	9	133458005	133458005	Human	1	name
156337878	CV1976984	single nucleotide variant	NM_139027.6(ADAMTS13):c.4022C>G (p.Ala1341Gly)	not provided [RCV002601126]	uncertain significance	9	133459086	133459086	Human		name
156383973	CV1979728	single nucleotide variant	NM_139027.6(ADAMTS13):c.3399G>T (p.Gln1133His)	not provided [RCV002634485]	uncertain significance	9	133455434	133455434	Human		name
156099066	CV1981155	single nucleotide variant	NM_139027.6(ADAMTS13):c.3154G>A (p.Glu1052Lys)	not provided [RCV002622143]	uncertain significance	9	133454524	133454524	Human		name
156243972	CV1992680	single nucleotide variant	NM_139027.6(ADAMTS13):c.3124C>T (p.Leu1042Phe)	Upshaw-Schulman syndrome [RCV005042931]\|not provided [RCV002627231]	uncertain significance	9	133454494	133454494	Human	1	name
156124119	CV1995170	single nucleotide variant	NM_139027.6(ADAMTS13):c.3872G>A (p.Gly1291Asp)	not provided [RCV002662970]	uncertain significance	9	133458057	133458057	Human		name
156170368	CV2003641	single nucleotide variant	NM_139027.6(ADAMTS13):c.3271G>A (p.Gly1091Ser)	not provided [RCV002642704]	uncertain significance	9	133455306	133455306	Human		name
156382572	CV2005023	single nucleotide variant	NM_139027.6(ADAMTS13):c.3224G>A (p.Arg1075His)	not provided [RCV002653764]	uncertain significance	9	133454594	133454594	Human		name
156128669	CV2036451	single nucleotide variant	NM_139027.6(ADAMTS13):c.3023G>A (p.Ser1008Asn)	not provided [RCV002786081]	uncertain significance	9	133449944	133449944	Human		name
8558935	CV20842	single nucleotide variant	NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)	Thrombotic thrombocytopenic purpura [RCV004700192]\|Upshaw-Schulman syndrome [RCV000006159]\|not provided [RCV002512821]	pathogenic\|likely pathogenic	9	133454440	133454440	Human	1	name
8558939	CV20847	single nucleotide variant	NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr)	Upshaw-Schulman syndrome [RCV000006164]	pathogenic	9	133456138	133456138	Human	1	name
8558949	CV20859	deletion	NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs)	Upshaw-Schulman syndrome [RCV000006176]	pathogenic	9	133424431	133424459	Human	1	name
156291095	CV2111396	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)	Upshaw-Schulman syndrome [RCV005045055]\|not provided [RCV002922155]\|not specified [RCV004587390]	likely benign\|uncertain significance	9	133455435	133455435	Human	1	name
155937707	CV2125831	single nucleotide variant	NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)	ADAMTS13-related disorder [RCV003418672]\|Upshaw-Schulman syndrome [RCV005045111]\|not provided [RCV002971067]	likely benign\|uncertain significance	9	133456566	133456566	Human	1	name , alternate_id
155933327	CV2129308	single nucleotide variant	NM_139027.6(ADAMTS13):c.3527G>A (p.Ser1176Asn)	not provided [RCV002970757]	uncertain significance	9	133456195	133456195	Human		name
156027029	CV2131380	single nucleotide variant	NM_139027.6(ADAMTS13):c.3775C>G (p.Leu1259Val)	Inborn genetic diseases [RCV004614294]\|not provided [RCV002976435]	uncertain significance	9	133457960	133457960	Human	1	name
156047282	CV2144268	single nucleotide variant	NM_139027.6(ADAMTS13):c.3541A>G (p.Ser1181Gly)	Inborn genetic diseases [RCV002999752]\|not provided [RCV003007442]	uncertain significance	9	133456209	133456209	Human	1	name
156282188	CV2161045	single nucleotide variant	NM_139027.6(ADAMTS13):c.3043A>G (p.Arg1015Gly)	not provided [RCV003027356]	uncertain significance	9	133449964	133449964	Human		name
156363946	CV2186935	single nucleotide variant	NM_139027.6(ADAMTS13):c.3418C>T (p.His1140Tyr)	not provided [RCV003065823]	uncertain significance	9	133456086	133456086	Human		name
156309169	CV2249611	single nucleotide variant	NM_139027.6(ADAMTS13):c.3662G>A (p.Arg1221Gln)	Inborn genetic diseases [RCV002808820]\|not provided [RCV004790419]	likely benign\|uncertain significance	9	133456657	133456657	Human	1	name
155993169	CV2253546	single nucleotide variant	NM_139027.6(ADAMTS13):c.3707C>T (p.Pro1236Leu)	Inborn genetic diseases [RCV002793857]	uncertain significance	9	133456702	133456702	Human	1	name
156346571	CV2300622	single nucleotide variant	NM_139027.6(ADAMTS13):c.3301G>A (p.Gly1101Arg)	Inborn genetic diseases [RCV002900925]\|not provided [RCV003481418]	uncertain significance	9	133455336	133455336	Human	1	name
155936434	CV2379823	single nucleotide variant	NM_139027.6(ADAMTS13):c.3616T>C (p.Phe1206Leu)	Inborn genetic diseases [RCV002684947]	uncertain significance	9	133456611	133456611	Human	1	name
243050945	CV2415629	single nucleotide variant	NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)	Inborn genetic diseases [RCV005310962]\|Upshaw-Schulman syndrome [RCV003148229]	likely benign\|uncertain significance	9	133455327	133455327	Human	2	name
329385772	CV2462301	single nucleotide variant	NM_139027.6(ADAMTS13):c.3103C>T (p.Arg1035Cys)	Inborn genetic diseases [RCV003214543]	uncertain significance	9	133454473	133454473	Human	1	name
11542973	CV253395	single nucleotide variant	NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr)	Upshaw-Schulman syndrome [RCV000345688]\|not provided [RCV001723859]\|not specified [RCV000241840]	benign\|likely benign	9	133454467	133454467	Human	4	name
11542973	CV253395	single nucleotide variant	NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr)	Upshaw-Schulman syndrome [RCV000345688]\|not provided [RCV001723859]\|not specified [RCV000241840]	benign\|likely benign	9	133454467	133454468	Human	4	name
11547542	CV253399	single nucleotide variant	NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His)	ADAMTS13-related disorder [RCV003891983]\|Upshaw-Schulman syndrome [RCV000351572]\|not provided [RCV000436524]	benign\|likely benign	9	133455322	133455322	Human	1	name , alternate_id
401760359	CV2695015	single nucleotide variant	NM_139027.6(ADAMTS13):c.3683T>A (p.Leu1228Gln)	Inborn genetic diseases [RCV003280487]	uncertain significance	9	133456678	133456678	Human	1	name
401727364	CV2736297	duplication	NM_139027.6(ADAMTS13):c.3288dup (p.Asp1097Ter)	not provided [RCV003312745]	pathogenic	9	133455322	133455323	Human		name
401894122	CV2770321	single nucleotide variant	NM_139027.6(ADAMTS13):c.3556T>A (p.Leu1186Met)	Inborn genetic diseases [RCV003371172]	uncertain significance	9	133456551	133456551	Human	1	name
401891932	CV2777146	single nucleotide variant	NM_139027.6(ADAMTS13):c.2998C>T (p.Arg1000Cys)	ADAMTS13-related disorder [RCV003420679]\|Inborn genetic diseases [RCV003369716]\|not provided [RCV003778049]	uncertain significance	9	133449919	133449919	Human	2	name , alternate_id
401902080	CV2804180	single nucleotide variant	NM_139027.6(ADAMTS13):c.3142G>A (p.Val1048Met)	ADAMTS13-related disorder [RCV003418766]	uncertain significance	9	133454512	133454512	Human		name , trait , alternate_id
401961785	CV2844107	single nucleotide variant	NM_139027.6(ADAMTS13):c.2999G>A (p.Arg1000His)	Upshaw-Schulman syndrome [RCV005047625]\|not provided [RCV003481947]	uncertain significance	9	133449920	133449920	Human	1	name
401961786	CV2844108	single nucleotide variant	NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val)	ADAMTS13-related disorder [RCV003966450]\|Upshaw-Schulman syndrome [RCV005047626]\|not provided [RCV003481948]\|not specified [RCV005419638]	uncertain significance	9	133454528	133454528	Human	1	name , alternate_id
401961787	CV2844109	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400G>T (p.Gly1134Cys)	not provided [RCV003481949]	uncertain significance	9	133455435	133455435	Human		name
401961789	CV2844111	single nucleotide variant	NM_139027.6(ADAMTS13):c.3501G>T (p.Glu1167Asp)	not provided [RCV003481951]	uncertain significance	9	133456169	133456169	Human		name
401961790	CV2844112	single nucleotide variant	NM_139027.6(ADAMTS13):c.4000T>C (p.Phe1334Leu)	not provided [RCV003481952]	uncertain significance	9	133459064	133459064	Human		name
402479223	CV2853902	single nucleotide variant	NM_139027.6(ADAMTS13):c.3809G>T (p.Arg1270Leu)	not provided [RCV003543837]	uncertain significance	9	133457994	133457994	Human		name
405241455	CV2901390	single nucleotide variant	NM_139027.6(ADAMTS13):c.3448C>T (p.Arg1150Ter)	not provided [RCV003557488]	pathogenic	9	133456116	133456116	Human		name
405241461	CV2901391	single nucleotide variant	NM_139027.6(ADAMTS13):c.3567G>A (p.Trp1189Ter)	not provided [RCV003557489]	pathogenic	9	133456562	133456562	Human		name
405241466	CV2901392	single nucleotide variant	NM_139027.6(ADAMTS13):c.3917A>T (p.Asp1306Val)	not provided [RCV003557490]	uncertain significance	9	133458981	133458981	Human		name
402492813	CV2945900	single nucleotide variant	NM_139027.6(ADAMTS13):c.3544G>A (p.Ala1182Thr)	not provided [RCV003660716]	uncertain significance	9	133456212	133456212	Human		name
11603377	CV307311	single nucleotide variant	NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser)	Upshaw-Schulman syndrome [RCV000299154]\|not provided [RCV002523752]	uncertain significance	9	133456623	133456623	Human	1	name
11608896	CV311608	single nucleotide variant	NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)	Upshaw-Schulman syndrome [RCV000360950]\|not provided [RCV000658135]\|not specified [RCV004689727]	conflicting interpretations of pathogenicity\|uncertain significance	9	133456653	133456653	Human	1	name
11605558	CV311615	single nucleotide variant	NM_139027.6(ADAMTS13):c.3941C>T (p.Ala1314Val)	Upshaw-Schulman syndrome [RCV000321320]	uncertain significance	9	133459005	133459005	Human	1	name
405193374	CV3146109	single nucleotide variant	NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)	Inborn genetic diseases [RCV004366927]\|Upshaw-Schulman syndrome [RCV005040557]\|not provided [RCV003843656]	likely benign\|uncertain significance	9	133459070	133459070	Human	2	name
405707212	CV3225349	single nucleotide variant	NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)	Upshaw-Schulman syndrome [RCV003990403]	pathogenic	9	133456215	133456215	Human	1	name
405718222	CV3227710	single nucleotide variant	NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)	Upshaw-Schulman syndrome [RCV003992051]	uncertain significance	9	133456628	133456628	Human	1	name
405686081	CV3306874	single nucleotide variant	NM_139027.6(ADAMTS13):c.3002C>T (p.Pro1001Leu)	Inborn genetic diseases [RCV004444424]\|Upshaw-Schulman syndrome [RCV005040667]	uncertain significance	9	133449923	133449923	Human	2	name
405686280	CV3306914	single nucleotide variant	NM_139027.6(ADAMTS13):c.3892A>G (p.Asn1298Asp)	Inborn genetic diseases [RCV004444464]\|Upshaw-Schulman syndrome [RCV005358102]	likely benign\|uncertain significance	9	133458077	133458077	Human	2	name
405853507	CV3393189	single nucleotide variant	NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)	Upshaw-Schulman syndrome [RCV004545919]\|not provided [RCV004791691]	likely pathogenic	9	133456652	133456652	Human	1	name
405867716	CV3396530	single nucleotide variant	NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)	Upshaw-Schulman syndrome [RCV004560401]	uncertain significance	9	133459103	133459103	Human	1	name
407428218	CV3410137	single nucleotide variant	NM_139027.6(ADAMTS13):c.3848T>C (p.Ile1283Thr)	not specified [RCV004587744]	uncertain significance	9	133458033	133458033	Human		name
407469852	CV3415397	single nucleotide variant	NM_139027.6(ADAMTS13):c.3680T>C (p.Leu1227Pro)	Upshaw-Schulman syndrome [RCV004598356]	uncertain significance	9	133456675	133456675	Human	1	name
596932486	CV3539106	single nucleotide variant	NM_139027.6(ADAMTS13):c.3052G>A (p.Val1018Ile)	not provided [RCV004793232]	uncertain significance	9	133454422	133454422	Human		name
596932487	CV3539107	single nucleotide variant	NM_139027.6(ADAMTS13):c.3653G>A (p.Arg1218His)	not provided [RCV004793233]	uncertain significance	9	133456648	133456648	Human		name
596932488	CV3539108	single nucleotide variant	NM_139027.6(ADAMTS13):c.3874G>A (p.Ala1292Thr)	not provided [RCV004793234]	uncertain significance	9	133458059	133458059	Human		name
596932490	CV3539110	single nucleotide variant	NM_139027.6(ADAMTS13):c.4108G>A (p.Gly1370Arg)	not provided [RCV004793236]	uncertain significance	9	133459172	133459172	Human		name
597628562	CV3642069	single nucleotide variant	NM_139027.6(ADAMTS13):c.3695G>A (p.Ser1232Asn)	Inborn genetic diseases [RCV004976240]\|Upshaw-Schulman syndrome [RCV005040829]	uncertain significance	9	133456690	133456690	Human	2	name
597628567	CV3642140	single nucleotide variant	NM_139027.6(ADAMTS13):c.3281G>A (p.Arg1094His)	Inborn genetic diseases [RCV004976259]\|Upshaw-Schulman syndrome [RCV005051502]	uncertain significance	9	133455316	133455316	Human	2	name
597654734	CV3649169	single nucleotide variant	NM_139027.6(ADAMTS13):c.4112C>T (p.Thr1371Ile)	Inborn genetic diseases [RCV004976263]	uncertain significance	9	133459176	133459176	Human	1	name
12845564	CV370524	single nucleotide variant	NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr)	Inborn genetic diseases [RCV002521747]\|Upshaw-Schulman syndrome [RCV002488929]\|not provided [RCV000440047]	uncertain significance	9	133456549	133456549	Human	2	name
597687714	CV3726064	single nucleotide variant	NM_139027.6(ADAMTS13):c.3412A>G (p.Arg1138Gly)	Upshaw-Schulman syndrome [RCV005046028]	uncertain significance	9	133456080	133456080	Human	1	name
597714042	CV3726066	single nucleotide variant	NM_139027.6(ADAMTS13):c.3427C>T (p.Pro1143Ser)	Upshaw-Schulman syndrome [RCV005048982]	uncertain significance	9	133456095	133456095	Human	1	name
597687723	CV3726067	single nucleotide variant	NM_139027.6(ADAMTS13):c.3502G>A (p.Val1168Met)	Upshaw-Schulman syndrome [RCV005046029]	uncertain significance	9	133456170	133456170	Human	1	name
597687736	CV3726068	single nucleotide variant	NM_139027.6(ADAMTS13):c.3578C>T (p.Thr1193Ile)	Upshaw-Schulman syndrome [RCV005046030]	uncertain significance	9	133456573	133456573	Human	1	name
597687767	CV3726071	single nucleotide variant	NM_139027.6(ADAMTS13):c.3635C>T (p.Thr1212Met)	Upshaw-Schulman syndrome [RCV005046033]	uncertain significance	9	133456630	133456630	Human	1	name
597687776	CV3726072	single nucleotide variant	NM_139027.6(ADAMTS13):c.3734T>C (p.Met1245Thr)	Upshaw-Schulman syndrome [RCV005046034]	uncertain significance	9	133457919	133457919	Human	1	name
597714054	CV3726073	single nucleotide variant	NM_139027.6(ADAMTS13):c.3830C>T (p.Pro1277Leu)	Upshaw-Schulman syndrome [RCV005048983]	uncertain significance	9	133458015	133458015	Human	1	name
597687788	CV3726074	single nucleotide variant	NM_139027.6(ADAMTS13):c.3932G>A (p.Arg1311Lys)	Upshaw-Schulman syndrome [RCV005046035]	uncertain significance	9	133458996	133458996	Human	1	name
597687797	CV3726076	single nucleotide variant	NM_139027.6(ADAMTS13):c.3953A>G (p.Gln1318Arg)	Upshaw-Schulman syndrome [RCV005046036]	uncertain significance	9	133459017	133459017	Human	1	name
597687815	CV3726077	single nucleotide variant	NM_139027.6(ADAMTS13):c.3985C>T (p.Gln1329Ter)	Upshaw-Schulman syndrome [RCV005046038]	uncertain significance	9	133459049	133459049	Human	1	name
597687581	CV3729508	single nucleotide variant	NM_139027.6(ADAMTS13):c.2998C>G (p.Arg1000Gly)	Upshaw-Schulman syndrome [RCV005046014]	uncertain significance	9	133449919	133449919	Human	1	name
597687601	CV3729511	single nucleotide variant	NM_139027.6(ADAMTS13):c.3077C>T (p.Ala1026Val)	Upshaw-Schulman syndrome [RCV005046016]	uncertain significance	9	133454447	133454447	Human	1	name
597714005	CV3729512	single nucleotide variant	NM_139027.6(ADAMTS13):c.3091G>C (p.Gly1031Arg)	Upshaw-Schulman syndrome [RCV005048979]	uncertain significance	9	133454461	133454461	Human	1	name
597687609	CV3729513	single nucleotide variant	NM_139027.6(ADAMTS13):c.3104G>A (p.Arg1035His)	Upshaw-Schulman syndrome [RCV005046017]	uncertain significance	9	133454474	133454474	Human	1	name
597714018	CV3729515	single nucleotide variant	NM_139027.6(ADAMTS13):c.3161C>T (p.Ala1054Val)	Upshaw-Schulman syndrome [RCV005048980]	uncertain significance	9	133454531	133454531	Human	1	name
597687626	CV3729516	single nucleotide variant	NM_139027.6(ADAMTS13):c.3196C>A (p.Pro1066Thr)	Upshaw-Schulman syndrome [RCV005046019]	uncertain significance	9	133454566	133454566	Human	1	name
597687636	CV3729518	single nucleotide variant	NM_139027.6(ADAMTS13):c.3280C>T (p.Arg1094Cys)	Upshaw-Schulman syndrome [RCV005046020]	uncertain significance	9	133455315	133455315	Human	1	name
597714030	CV3729519	single nucleotide variant	NM_139027.6(ADAMTS13):c.3283C>T (p.Arg1095Trp)	Upshaw-Schulman syndrome [RCV005048981]	uncertain significance	9	133455318	133455318	Human	1	name
597687645	CV3729520	single nucleotide variant	NM_139027.6(ADAMTS13):c.3352A>G (p.Lys1118Glu)	Upshaw-Schulman syndrome [RCV005046021]	uncertain significance	9	133455387	133455387	Human	1	name
597936941	CV3777752	single nucleotide variant	NM_139027.6(ADAMTS13):c.3851A>C (p.His1284Pro)	not provided [RCV005132665]	uncertain significance	9	133458036	133458036	Human		name
597967078	CV3794406	single nucleotide variant	NM_139027.6(ADAMTS13):c.3515G>A (p.Arg1172His)	not provided [RCV005140582]	uncertain significance	9	133456183	133456183	Human		name
597843566	CV3827324	single nucleotide variant	NM_139027.6(ADAMTS13):c.3079A>G (p.Ser1027Gly)	not provided [RCV005172595]	uncertain significance	9	133454449	133454449	Human		name
597869875	CV3839305	single nucleotide variant	NM_139027.6(ADAMTS13):c.3800G>C (p.Gly1267Ala)	not provided [RCV005176416]	uncertain significance	9	133457985	133457985	Human		name
598207691	CV3950818	single nucleotide variant	NM_139027.6(ADAMTS13):c.3589A>G (p.Met1197Val)	Inborn genetic diseases [RCV005315329]	uncertain significance	9	133456584	133456584	Human	1	name
598166906	CV3950880	single nucleotide variant	NM_139027.6(ADAMTS13):c.3643G>A (p.Val1215Met)	Inborn genetic diseases [RCV005307961]	uncertain significance	9	133456638	133456638	Human	1	name
598166996	CV3950905	single nucleotide variant	NM_139027.6(ADAMTS13):c.3567G>C (p.Trp1189Cys)	Inborn genetic diseases [RCV005307982]	uncertain significance	9	133456562	133456562	Human	1	name
598167028	CV3950914	single nucleotide variant	NM_139027.6(ADAMTS13):c.3770C>G (p.Pro1257Arg)	Inborn genetic diseases [RCV005307989]	uncertain significance	9	133457955	133457955	Human	1	name
598167228	CV3950963	single nucleotide variant	NM_139027.6(ADAMTS13):c.3170C>T (p.Ala1057Val)	Inborn genetic diseases [RCV005308026]	uncertain significance	9	133454540	133454540	Human	1	name
616932957	CV4010456	single nucleotide variant	NM_139027.6(ADAMTS13):c.3469T>C (p.Cys1157Arg)	Upshaw-Schulman syndrome [RCV005403801]	likely pathogenic	9	133456137	133456137	Human	1	name
15161247	CV736984	single nucleotide variant	NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile)	Upshaw-Schulman syndrome [RCV001169111]\|not provided [RCV000903309]\|not specified [RCV001818762]	benign	9	133456177	133456177	Human	1	name
8624596	CV79706	single nucleotide variant	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13-related disorder [RCV003952487]\|Thrombotic thrombocytopenic purpura [RCV002469002]\|Upshaw-Schulman syndrome [RCV000779576]\|not provided [RCV000059767]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	9	133454548	133454548	Human	4	name , alternate_id
8624596	CV79706	single nucleotide variant	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13-related disorder [RCV003952487]\|Thrombotic thrombocytopenic purpura [RCV002469002]\|Upshaw-Schulman syndrome [RCV000779576]\|not provided [RCV000059767]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	9	133454548	133454549	Human	4	name , alternate_id
8624597	CV79707	single nucleotide variant	NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)	Upshaw-Schulman syndrome [RCV005042188]\|not provided [RCV000059768]	pathogenic\|likely pathogenic\|not provided	9	133455402	133455402	Human	1	name
8624599	CV79709	single nucleotide variant	NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp)	not provided [RCV000059770]	not provided	9	133456155	133456155	Human		name
8624600	CV79710	single nucleotide variant	NM_139027.6(ADAMTS13):c.3548G>T (p.Gly1183Val)	not provided [RCV000059771]	not provided	9	133456543	133456543	Human		name
8624601	CV79711	single nucleotide variant	NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu)	ADAMTS13-related disorder [RCV003925022]\|Upshaw-Schulman syndrome [RCV001166191]\|not provided [RCV000059772]	benign\|likely benign\|not provided	9	133457958	133457958	Human	1	name , alternate_id
8624602	CV79712	single nucleotide variant	NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp)	not provided [RCV000059773]	not provided	9	133458023	133458023	Human		name
28877986	CV901361	single nucleotide variant	NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val)	Upshaw-Schulman syndrome [RCV001166613]\|not provided [RCV002559597]	uncertain significance	9	133454537	133454537	Human	1	name
28883957	CV901362	single nucleotide variant	NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln)	Upshaw-Schulman syndrome [RCV001168359]\|not provided [RCV002558664]	uncertain significance	9	133454549	133454549	Human	1	name
28886618	CV901367	single nucleotide variant	NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile)	Upshaw-Schulman syndrome [RCV001169112]	uncertain significance	9	133456185	133456185	Human	1	name
28886625	CV901369	single nucleotide variant	NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val)	Upshaw-Schulman syndrome [RCV001169114]\|not provided [RCV002558677]	uncertain significance	9	133456213	133456213	Human	1	name
28876583	CV901372	single nucleotide variant	NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met)	Upshaw-Schulman syndrome [RCV001166192]\|not provided [RCV002559592]	uncertain significance	9	133457973	133457973	Human	1	name
28878231	CV901373	single nucleotide variant	NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser)	Upshaw-Schulman syndrome [RCV001166686]	uncertain significance	9	133457979	133457979	Human	1	name
28878234	CV901374	single nucleotide variant	NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg)	Upshaw-Schulman syndrome [RCV001166687]	uncertain significance	9	133459020	133459020	Human	1	name
28878240	CV901376	single nucleotide variant	NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn)	Upshaw-Schulman syndrome [RCV001166689]\|not provided [RCV002558633]	uncertain significance	9	133459084	133459084	Human	1	name
34891084	CV904522	single nucleotide variant	NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln)	Inborn genetic diseases [RCV004609645]\|Upshaw-Schulman syndrome [RCV002497603]\|not provided [RCV001171885]	uncertain significance	9	133456117	133456117	Human	2	name
156237853	CV2081917	deletion	NM_139027.6(ADAMTS13):c.870_876del (p.Gly291fs)	not provided [RCV002876486]	pathogenic	9	133429982	133429988	Human		name
407428217	CV3410136	deletion	NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)	Thrombotic thrombocytopenic purpura [RCV004587743]	pathogenic	9	133428741	133428750	Human	1	name
405685931	CV3306844	microsatellite	NM_139027.6(ADAMTS13):c.197AGAGGC[3] (p.66QR[3])	Inborn genetic diseases [RCV004444394]\|Upshaw-Schulman syndrome [RCV005040666]	uncertain significance	9	133424344	133424349	Human		name
597713694	CV3729395	microsatellite	NM_139027.6(ADAMTS13):c.197AGAGGC[2] (p.66QR[2])	Upshaw-Schulman syndrome [RCV005048952]	uncertain significance	9	133424344	133424355	Human		name
127262551	CV1061622	microsatellite	NM_139027.6(ADAMTS13):c.1393_1394del (p.Ala465fs)	ADAMTS13-related disorder [RCV003399196]\|not provided [RCV001380748]	pathogenic\|likely pathogenic	9	133436911	133436912	Human		name , alternate_id
150529760	CV1210503	deletion	NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs)	Upshaw-Schulman syndrome [RCV001729961]	likely pathogenic	9	133436855	133436856	Human	1	name
155924018	CV1987659	deletion	NM_139027.6(ADAMTS13):c.1128_1132del (p.Glu376fs)	not provided [RCV002614688]	pathogenic	9	133433411	133433415	Human		name
156022590	CV2055610	deletion	NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)	Thrombotic thrombocytopenic purpura [RCV004700837]\|not provided [RCV002820685]	pathogenic	9	133449839	133449857	Human	1	name
401921192	CV2797916	deletion	NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)	ADAMTS13-related disorder [RCV003402848]\|Upshaw-Schulman syndrome [RCV005047576]\|not provided [RCV003732584]	pathogenic	9	133437769	133437770	Human	1	name , alternate_id
596930830	CV3540230	duplication	NM_139027.6(ADAMTS13):c.2360_2363dup (p.Ala789fs)	not provided [RCV004792217]	likely pathogenic	9	133443499	133443500	Human		name
597895536	CV3773458	microsatellite	NM_139027.6(ADAMTS13):c.2414_2418dup (p.Arg807fs)	not provided [RCV005111365]	pathogenic	9	133443546	133443547	Human		name
8558945	CV20854	deletion	NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs)	Upshaw-Schulman syndrome [RCV000006171]	pathogenic	9	133439443	133439444	Human	1	name

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