Nipbl Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556664	CV17184	deletion	NIPBL, 2-BP DEL, 2479AG	Cornelia de Lange syndrome 1 [RCV000002227]	pathogenic				Human		name
8556668	CV17188	single nucleotide variant	NIPBL, IVS44DS, A-G, +4	Cornelia de Lange syndrome 1 [RCV000002231]	pathogenic				Human	1	name
9682930	CV168529	deletion	NM_133433.4(NIPBL):c.*84del	not specified [RCV000146508]	benign	5	37064968	37064968	Human		name
10408501	CV207262	duplication	NM_133433.4(NIPBL):c.*84dup	De Lange syndrome [RCV000302616]\|not specified [RCV000194508]	benign\|likely benign	5	37064967	37064968	Human	1	name
28893136	CV894216	single nucleotide variant	NM_133433.4(NIPBL):c.*32A>T	Cornelia de Lange syndrome 1 [RCV001153423]	uncertain significance	5	37064924	37064924	Human	1	name
150408784	CV1185879	single nucleotide variant	NM_133433.4(NIPBL):c.-467C>T	Cornelia de Lange syndrome 1 [RCV001559131]	pathogenic\|likely pathogenic	5	36876791	36876791	Human	1	name
151781639	CV1458344	single nucleotide variant	NM_133433.4(NIPBL):c.-320C>A	Cornelia de Lange syndrome 1 [RCV001951133]	pathogenic	5	36876938	36876938	Human		name
9683098	CV168299	single nucleotide variant	NM_133433.4(NIPBL):c.64+1G>A	Cornelia de Lange syndrome 1 [RCV000146685]	pathogenic	5	36953761	36953761	Human	1	name
9683099	CV168300	single nucleotide variant	NM_133433.4(NIPBL):c.64+3A>C	Cornelia de Lange syndrome 1 [RCV000146686]	pathogenic	5	36953763	36953763	Human	1	name
9683100	CV168301	single nucleotide variant	NM_133433.4(NIPBL):c.64+5G>A	Cornelia de Lange syndrome 1 [RCV000146687]\|not provided [RCV003318555]	likely pathogenic\|conflicting interpretations of pathogenicity	5	36953765	36953765	Human	1	name
9683103	CV168302	single nucleotide variant	NM_133433.4(NIPBL):c.65-5A>G	Cornelia de Lange syndrome 1 [RCV000146690]	pathogenic\|likely pathogenic	5	36955467	36955467	Human	1	name
9693704	CV178372	single nucleotide variant	NM_133433.4(NIPBL):c.65-3T>G	Cornelia de Lange syndrome 1 [RCV000157044]	pathogenic	5	36955469	36955469	Human	1	name
401912637	CV2827708	deletion	NM_133433.4(NIPBL):c.-415del	not provided [RCV003427447]	benign	5	36876843	36876843	Human		name
11663363	CV297423	deletion	NM_133433.4(NIPBL):c.-429del	De Lange syndrome [RCV000394993]	likely benign	5	36876824	36876824	Human	1	name
11646261	CV297455	deletion	NM_133433.4(NIPBL):c.*460del	De Lange syndrome [RCV000269986]\|not provided [RCV004695862]	uncertain significance	5	37065341	37065341	Human	1	name
11660394	CV299486	single nucleotide variant	NM_133433.4(NIPBL):c.-424T>C	Cornelia de Lange syndrome 1 [RCV000366466]	uncertain significance	5	36876834	36876834	Human	1	name
11656212	CV299488	single nucleotide variant	NM_133433.4(NIPBL):c.-410C>T	Cornelia de Lange syndrome 1 [RCV000331810]	uncertain significance	5	36876848	36876848	Human	1	name
11647743	CV299494	single nucleotide variant	NM_133433.4(NIPBL):c.-338C>T	Cornelia de Lange syndrome 1 [RCV000278019]	uncertain significance	5	36876920	36876920	Human	1	name
11591818	CV299501	single nucleotide variant	NM_133433.4(NIPBL):c.-312T>A	Cornelia de Lange syndrome 1 [RCV000332545]\|not provided [RCV002274996]	benign\|likely benign	5	36876946	36876946	Human	1	name
11595691	CV299520	single nucleotide variant	NM_133433.4(NIPBL):c.-307C>T	Cornelia de Lange syndrome 1 [RCV000373204]	benign\|likely benign	5	36876951	36876951	Human	1	name
11590540	CV299524	single nucleotide variant	NM_133433.4(NIPBL):c.-243A>C	Cornelia de Lange syndrome 1 [RCV000320082]	benign\|likely benign	5	36877015	36877015	Human	1	name
11661238	CV299525	duplication	NM_133433.4(NIPBL):c.-153dup	De Lange syndrome [RCV000374694]	uncertain significance	5	36877098	36877099	Human	1	name
11657383	CV299535	single nucleotide variant	NM_133433.4(NIPBL):c.*142G>C	Cornelia de Lange syndrome 1 [RCV000341009]	uncertain significance	5	37065034	37065034	Human	1	name
11652784	CV303645	single nucleotide variant	NM_133433.4(NIPBL):c.-428G>C	Cornelia de Lange syndrome 1 [RCV000307141]	uncertain significance	5	36876830	36876830	Human	1	name
11646630	CV303646	duplication	NM_133433.4(NIPBL):c.-416dup	De Lange syndrome [RCV000272068]\|not provided [RCV003430909]	likely benign\|uncertain significance	5	36876834	36876835	Human	1	name
11585190	CV303649	single nucleotide variant	NM_133433.4(NIPBL):c.-265A>G	Cornelia de Lange syndrome 1 [RCV000279096]	uncertain significance	5	36876993	36876993	Human	1	name
11594798	CV303710	single nucleotide variant	NM_133433.4(NIPBL):c.*334G>A	Cornelia de Lange syndrome 1 [RCV000363068]\|not provided [RCV003422338]	benign\|likely benign\|uncertain significance	5	37065226	37065226	Human	1	name
11653055	CV303711	single nucleotide variant	NM_133433.4(NIPBL):c.*545A>G	Cornelia de Lange syndrome 1 [RCV000308768]	uncertain significance	5	37065437	37065437	Human	1	name
11660509	CV303949	single nucleotide variant	NM_133433.4(NIPBL):c.-379G>A	Cornelia de Lange syndrome 1 [RCV000367876]	uncertain significance	5	36876879	36876879	Human	1	name
11595036	CV304003	single nucleotide variant	NM_133433.4(NIPBL):c.*551G>C	Cornelia de Lange syndrome 1 [RCV000365794]	uncertain significance	5	37065443	37065443	Human	1	name
405161884	CV3153091	deletion	NM_133433.4(NIPBL):c.-315del	Cornelia de Lange syndrome 1 [RCV003840826]	uncertain significance	5	36876937	36876937	Human	1	name
13625590	CV521185	single nucleotide variant	NM_133433.4(NIPBL):c.64+6T>A	Cornelia de Lange syndrome 1 [RCV000653709]	uncertain significance	5	36953766	36953766	Human	1	name
13828414	CV579055	single nucleotide variant	NM_133433.4(NIPBL):c.65-5A>C	Inborn genetic diseases [RCV002312428]	likely benign	5	36955467	36955467	Human	1	name
28893140	CV894217	single nucleotide variant	NM_133433.4(NIPBL):c.*351G>A	Cornelia de Lange syndrome 1 [RCV001153424]	uncertain significance	5	37065243	37065243	Human	1	name
28893144	CV894218	single nucleotide variant	NM_133433.4(NIPBL):c.*354T>C	Cornelia de Lange syndrome 1 [RCV001153425]	uncertain significance	5	37065246	37065246	Human	1	name
126733237	CV990948	deletion	NM_133433.4(NIPBL):c.64+4del	Cornelia de Lange syndrome 1 [RCV001294702]	uncertain significance	5	36953763	36953763	Human	1	name
8643265	CV102248	single nucleotide variant	NM_133433.4(NIPBL):c.772-8A>G	Cornelia de Lange syndrome 1 [RCV001807039]\|not provided [RCV000082503]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36971937	36971937	Human	1	name
9682996	CV168312	single nucleotide variant	NM_133433.4(NIPBL):c.358+1G>T	Cornelia de Lange syndrome 1 [RCV000146582]	pathogenic	5	36958232	36958232	Human	1	name
9682997	CV168313	single nucleotide variant	NM_133433.4(NIPBL):c.358+5G>C	Cornelia de Lange syndrome 1 [RCV000146583]	likely pathogenic	5	36958236	36958236	Human	1	name
9683079	CV168317	single nucleotide variant	NM_133433.4(NIPBL):c.610+1G>A	Cornelia de Lange syndrome 1 [RCV000146666]	pathogenic	5	36962275	36962275	Human	1	name
9683142	CV168322	single nucleotide variant	NM_133433.4(NIPBL):c.771+1G>A	Cornelia de Lange syndrome 1 [RCV000146730]\|Inborn genetic diseases [RCV001266498]\|not provided [RCV000725345]	pathogenic	5	36971037	36971037	Human	2	name
9683143	CV168323	single nucleotide variant	NM_133433.4(NIPBL):c.772-1G>A	Cornelia de Lange syndrome 1 [RCV000146731]	pathogenic	5	36971944	36971944	Human	1	name
9683155	CV168325	single nucleotide variant	NM_133433.4(NIPBL):c.869-1G>A	Cornelia de Lange syndrome 1 [RCV000146745]	pathogenic	5	36975775	36975775	Human	1	name
155268087	CV1701571	single nucleotide variant	NM_133433.4(NIPBL):c.869-1G>C	Cornelia de Lange syndrome 1 [RCV002283798]	likely pathogenic	5	36975775	36975775	Human	1	name
155738499	CV1805167	deletion	NM_133433.4(NIPBL):c.459-3del	Inborn genetic diseases [RCV002342291]	likely benign	5	36962117	36962117	Human	1	name
156448976	CV1944226	single nucleotide variant	NM_133433.4(NIPBL):c.458+9T>C	Cornelia de Lange syndrome 1 [RCV003121085]	likely benign	5	36961592	36961592	Human	1	name
10052587	CV195030	single nucleotide variant	NM_133433.4(NIPBL):c.458+7T>C	Cornelia de Lange syndrome 1 [RCV003105809]\|not provided [RCV000179008]	likely benign\|uncertain significance	5	36961590	36961590	Human	1	name
156029874	CV2052188	single nucleotide variant	NM_133433.4(NIPBL):c.611-3C>T	Cornelia de Lange syndrome 1 [RCV002821017]	uncertain significance	5	36970873	36970873	Human	1	name
156112132	CV2092992	single nucleotide variant	NM_133433.4(NIPBL):c.65-20T>G	Cornelia de Lange syndrome 1 [RCV002913823]	benign	5	36955452	36955452	Human	1	name
401913658	CV2804229	single nucleotide variant	NM_133433.4(NIPBL):c.458+4A>G	NIPBL-related disorder [RCV003427919]	uncertain significance	5	36961587	36961587	Human		name , trait , alternate_id
405114378	CV2890634	single nucleotide variant	NM_133433.4(NIPBL):c.868+4C>T	Cornelia de Lange syndrome 1 [RCV003499871]	conflicting interpretations of pathogenicity\|uncertain significance	5	36972045	36972045	Human	1	name
405050974	CV2962699	single nucleotide variant	NM_133433.4(NIPBL):c.868+8T>A	Cornelia de Lange syndrome 1 [RCV003603500]	likely benign	5	36972049	36972049	Human	1	name
405051677	CV3063378	single nucleotide variant	NM_133433.4(NIPBL):c.611-8A>G	Cornelia de Lange syndrome 1 [RCV003603557]\|not specified [RCV004587552]	likely benign	5	36970868	36970868	Human	1	name
405148017	CV3123140	single nucleotide variant	NM_133433.4(NIPBL):c.868+4C>G	Cornelia de Lange syndrome 1 [RCV003817373]	uncertain significance	5	36972045	36972045	Human	1	name
597892873	CV3763389	single nucleotide variant	NM_133433.4(NIPBL):c.458+2T>G	Cornelia de Lange syndrome 1 [RCV005110969]	pathogenic	5	36961585	36961585	Human	1	name
597916669	CV3811040	single nucleotide variant	NM_133433.4(NIPBL):c.64+13A>G	Cornelia de Lange syndrome 1 [RCV005155075]	likely benign	5	36953773	36953773	Human	1	name
12899563	CV406743	deletion	NM_133433.4(NIPBL):c.-80+5del	not provided [RCV003431045]\|not specified [RCV000480485]	likely benign	5	36877181	36877181	Human		name
12913188	CV421547	single nucleotide variant	NM_133433.4(NIPBL):c.771+2T>A	not provided [RCV000493500]	likely pathogenic	5	36971038	36971038	Human		name
13527444	CV500882	single nucleotide variant	NM_133433.4(NIPBL):c.65-17G>C	Cornelia de Lange syndrome 1 [RCV002528720]\|not specified [RCV000599759]	benign	5	36955455	36955455	Human	1	name
13794883	CV513817	single nucleotide variant	NM_133433.4(NIPBL):c.459-2A>G	Cornelia de Lange syndrome 1 [RCV000680257]	pathogenic	5	36962121	36962121	Human	1	name
14719468	CV651347	single nucleotide variant	NM_133433.4(NIPBL):c.230+5G>A	Cornelia de Lange syndrome 1 [RCV000796217]	pathogenic\|uncertain significance	5	36955642	36955642	Human	1	name
14702332	CV651349	single nucleotide variant	NM_133433.4(NIPBL):c.358+3G>C	Cornelia de Lange syndrome 1 [RCV000806903]	uncertain significance	5	36958234	36958234	Human	1	name
8643252	CV102235	single nucleotide variant	NM_133433.4(NIPBL):c.4421+7A>G	Cornelia de Lange syndrome 1 [RCV000870939]\|not provided [RCV004715663]\|not specified [RCV000082490]	benign\|likely benign	5	37008730	37008730	Human	1	name
8643253	CV102236	single nucleotide variant	NM_133433.4(NIPBL):c.4561-9T>A	Cornelia de Lange syndrome 1 [RCV000870940]\|not provided [RCV001668211]\|not specified [RCV000082491]	benign\|likely benign	5	37014674	37014674	Human	1	name
8643260	CV102243	single nucleotide variant	NM_133433.4(NIPBL):c.6109-3T>C	Cornelia de Lange syndrome 1 [RCV000614790]\|Inborn genetic diseases [RCV002311737]\|NIPBL-related disorder [RCV003891578]\|not provided [RCV000431680]\|not specified [RCV000082498]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	37044344	37044344	Human	3	name , alternate_id
127243106	CV1055502	single nucleotide variant	NM_133433.4(NIPBL):c.5808+2T>C	Cornelia de Lange syndrome 1 [RCV001377045]	pathogenic\|likely pathogenic	5	37026329	37026329	Human	1	name
127262001	CV1060400	single nucleotide variant	NM_133433.4(NIPBL):c.4643+1G>A	Cornelia de Lange syndrome 1 [RCV001387621]	pathogenic	5	37014766	37014766	Human	1	name
127287740	CV1163185	single nucleotide variant	NM_133433.4(NIPBL):c.6954+3A>G	Cornelia de Lange syndrome 1 [RCV002568143]\|Global developmental delay [RCV001527603]\|Inborn genetic diseases [RCV002377897]	likely benign\|uncertain significance	5	37049304	37049304	Human	4	name
150336150	CV1164935	single nucleotide variant	NM_133433.4(NIPBL):c.64+215C>T	not provided [RCV001530713]	likely benign	5	36953975	36953975	Human		name
150411154	CV1176615	single nucleotide variant	NM_133433.4(NIPBL):c.868+66T>G	not provided [RCV001547013]	likely benign	5	36972107	36972107	Human		name
150426993	CV1186924	single nucleotide variant	NM_133433.4(NIPBL):c.3503-7G>A	Cornelia de Lange syndrome 1 [RCV005094782]\|not provided [RCV001560322]	benign\|likely benign	5	37000810	37000810	Human	1	name
150434197	CV1243891	single nucleotide variant	NM_133433.4(NIPBL):c.3305-1G>A	not provided [RCV001665097]	likely pathogenic	5	37000372	37000372	Human		name
150544061	CV1310150	single nucleotide variant	NM_133433.4(NIPBL):c.5808+5G>A	Cornelia de Lange syndrome 1 [RCV001771778]	pathogenic\|likely pathogenic	5	37026332	37026332	Human	1	name
151709910	CV1433417	single nucleotide variant	NM_133433.4(NIPBL):c.4560+1G>C	Cornelia de Lange syndrome 1 [RCV002001740]	likely pathogenic	5	37010226	37010226	Human	1	name
151881380	CV1475687	single nucleotide variant	NM_133433.4(NIPBL):c.6249+1G>A	Cornelia de Lange syndrome 1 [RCV001961725]	likely pathogenic	5	37044488	37044488	Human	1	name
151860412	CV1484933	single nucleotide variant	NM_133433.4(NIPBL):c.3574+7C>T	Cornelia de Lange syndrome 1 [RCV001959155]	likely benign	5	37000895	37000895	Human	1	name
152107068	CV1577792	single nucleotide variant	NM_133433.4(NIPBL):c.230+10A>T	Cornelia de Lange syndrome 1 [RCV002096319]	likely benign	5	36955647	36955647	Human	1	name
152136746	CV1603619	single nucleotide variant	NM_133433.4(NIPBL):c.5225+7T>A	Cornelia de Lange syndrome 1 [RCV002218823]	likely benign	5	37020680	37020680	Human	1	name
152081177	CV1619394	single nucleotide variant	NM_133433.4(NIPBL):c.458+18C>T	Cornelia de Lange syndrome 1 [RCV002092863]	likely benign	5	36961601	36961601	Human	1	name
152121971	CV1631723	single nucleotide variant	NM_133433.4(NIPBL):c.869-16C>T	Cornelia de Lange syndrome 1 [RCV002117962]	benign	5	36975760	36975760	Human	1	name
152070079	CV1660836	single nucleotide variant	NM_133433.4(NIPBL):c.4087+9G>A	Cornelia de Lange syndrome 1 [RCV002129497]\|NIPBL-related disorder [RCV003958723]	likely benign	5	37006597	37006597	Human	2	name , alternate_id
155645034	CV1668435	single nucleotide variant	NM_133433.4(NIPBL):c.4560+4A>G	Cornelia de Lange syndrome 1 [RCV002291313]	likely pathogenic	5	37010229	37010229	Human	1	name
152982466	CV1677400	single nucleotide variant	NM_133433.4(NIPBL):c.6763+5G>A	Cornelia de Lange syndrome 1 [RCV002249109]	likely pathogenic	5	37048680	37048680	Human	1	name
9683082	CV168318	single nucleotide variant	NM_133433.4(NIPBL):c.611-10T>C	Cornelia de Lange syndrome 1 [RCV000146669]	uncertain significance	5	36970866	36970866	Human	1	name
9682982	CV168376	single nucleotide variant	NM_133433.4(NIPBL):c.3122-2A>G	Cornelia de Lange syndrome 1 [RCV000146568]	likely pathogenic	5	36995620	36995620	Human	1	name
9682983	CV168377	single nucleotide variant	NM_133433.4(NIPBL):c.3304+5G>A	Cornelia de Lange syndrome 1 [RCV000146569]	likely pathogenic	5	36995809	36995809	Human	1	name
9682984	CV168378	single nucleotide variant	NM_133433.4(NIPBL):c.3305-1G>T	Cornelia de Lange syndrome 1 [RCV000146570]	pathogenic	5	37000372	37000372	Human	1	name
9682992	CV168384	single nucleotide variant	NM_133433.4(NIPBL):c.3503-9T>G	Cornelia de Lange syndrome 1 [RCV000146578]	uncertain significance	5	37000808	37000808	Human	1	name
9682995	CV168387	single nucleotide variant	NM_133433.4(NIPBL):c.3575-3C>G	Cornelia de Lange syndrome 1 [RCV000146581]	pathogenic	5	37000986	37000986	Human	1	name
9683004	CV168394	single nucleotide variant	NM_133433.4(NIPBL):c.3855+1G>T	Cornelia de Lange syndrome 1 [RCV000146590]	pathogenic	5	37003348	37003348	Human	1	name
9683005	CV168395	single nucleotide variant	NM_133433.4(NIPBL):c.3855+5G>A	Cornelia de Lange syndrome 1 [RCV000146591]	likely pathogenic\|conflicting interpretations of pathogenicity	5	37003352	37003352	Human	1	name
9683012	CV168401	single nucleotide variant	NM_133433.4(NIPBL):c.4088-2A>T	Cornelia de Lange syndrome 1 [RCV000146598]	pathogenic	5	37007321	37007321	Human	1	name
9683017	CV168405	single nucleotide variant	NM_133433.4(NIPBL):c.4240-7T>C	Cornelia de Lange syndrome 1 [RCV000755645]\|not provided [RCV004710551]\|not specified [RCV000146603]	likely benign	5	37008001	37008001	Human	1	name
9683016	CV168406	single nucleotide variant	NM_133433.4(NIPBL):c.4240-1G>C	Cornelia de Lange syndrome 1 [RCV000146602]	pathogenic	5	37008007	37008007	Human	1	name
9683020	CV168408	single nucleotide variant	NM_133433.4(NIPBL):c.4320+1G>A	Cornelia de Lange syndrome 1 [RCV000146606]	pathogenic	5	37008089	37008089	Human	1	name
9683030	CV168418	single nucleotide variant	NM_133433.4(NIPBL):c.4643+1G>C	Cornelia de Lange syndrome 1 [RCV000146616]	pathogenic	5	37014766	37014766	Human	1	name
9683040	CV168428	single nucleotide variant	NM_133433.4(NIPBL):c.5010+9C>A	not specified [RCV000146626]	benign	5	37019409	37019409	Human		name
9683048	CV168436	single nucleotide variant	NM_133433.4(NIPBL):c.5328+1G>A	Cornelia de Lange syndrome 1 [RCV000146634]	pathogenic	5	37020878	37020878	Human	1	name
9683050	CV168438	single nucleotide variant	NM_133433.4(NIPBL):c.5329-1G>C	Cornelia de Lange syndrome 1 [RCV000146636]	pathogenic	5	37022050	37022050	Human	1	name
9683056	CV168443	single nucleotide variant	NM_133433.4(NIPBL):c.5428-2A>G	Cornelia de Lange syndrome 1 [RCV000146643]	pathogenic	5	37022242	37022242	Human	1	name
9683063	CV168450	single nucleotide variant	NM_133433.4(NIPBL):c.5709+1G>A	Cornelia de Lange syndrome 1 [RCV000146650]	pathogenic\|likely pathogenic	5	37024720	37024720	Human	1	name
9683064	CV168451	single nucleotide variant	NM_133433.4(NIPBL):c.5709+2T>G	Cornelia de Lange syndrome 1 [RCV000146651]	pathogenic	5	37024721	37024721	Human	1	name
9683065	CV168452	single nucleotide variant	NM_133433.4(NIPBL):c.5709+7T>G	not specified [RCV000146652]	benign	5	37024726	37024726	Human		name
9683068	CV168455	single nucleotide variant	NM_133433.4(NIPBL):c.5808+1G>A	Cornelia de Lange syndrome 1 [RCV000146655]	pathogenic	5	37026328	37026328	Human	1	name
9683069	CV168456	single nucleotide variant	NM_133433.4(NIPBL):c.5862+1G>A	Cornelia de Lange syndrome 1 [RCV000146656]	pathogenic\|likely pathogenic	5	37027413	37027413	Human	1	name
9683080	CV168465	single nucleotide variant	NM_133433.4(NIPBL):c.6108+1G>T	Cornelia de Lange syndrome 1 [RCV000146667]	pathogenic	5	37038739	37038739	Human	1	name
9683081	CV168466	single nucleotide variant	NM_133433.4(NIPBL):c.6108+7A>G	Cornelia de Lange syndrome 1 [RCV000146668]	conflicting interpretations of pathogenicity\|uncertain significance	5	37038745	37038745	Human	1	name
9683089	CV168472	single nucleotide variant	NM_133433.4(NIPBL):c.6250-6T>C	not specified [RCV000146676]	likely benign	5	37044630	37044630	Human		name
9683095	CV168479	single nucleotide variant	NM_133433.4(NIPBL):c.6343+5G>A	Cornelia de Lange syndrome 1 [RCV000146682]	uncertain significance	5	37044734	37044734	Human	1	name
9683107	CV168486	single nucleotide variant	NM_133433.4(NIPBL):c.6589+9A>T	Cornelia de Lange syndrome 1 [RCV000146694]\|not specified [RCV000734267]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37046208	37046208	Human	1	name
9683108	CV168487	single nucleotide variant	NM_133433.4(NIPBL):c.6590-2A>C	Cornelia de Lange syndrome 1 [RCV000146695]	pathogenic	5	37048500	37048500	Human	1	name
9683121	CV168499	single nucleotide variant	NM_133433.4(NIPBL):c.6954+1G>A	Cornelia de Lange syndrome 1 [RCV000146708]	pathogenic	5	37049302	37049302	Human	1	name
9683126	CV168504	single nucleotide variant	NM_133433.4(NIPBL):c.7062+2T>C	Cornelia de Lange syndrome 1 [RCV000146713]	pathogenic	5	37051888	37051888	Human	1	name
9683132	CV168510	single nucleotide variant	NM_133433.4(NIPBL):c.7264-6T>G	Cornelia de Lange syndrome 1 [RCV000146720]	pathogenic	5	37057180	37057180	Human	1	name
9683147	CV168521	single nucleotide variant	NM_133433.4(NIPBL):c.7860+9T>G	not specified [RCV000146736]	benign	5	37061027	37061027	Human		name
153303272	CV1690241	single nucleotide variant	NM_133433.4(NIPBL):c.6955-2A>C	Cornelia de Lange syndrome 1 [RCV002269141]	pathogenic	5	37051777	37051777	Human	1	name
8556667	CV17187	single nucleotide variant	NM_133433.4(NIPBL):c.7861-1G>C	Cornelia de Lange syndrome 1 [RCV000002230]	pathogenic	5	37063789	37063789	Human	1	name
155733214	CV1781076	single nucleotide variant	NM_133433.4(NIPBL):c.3856-3C>T	not provided [RCV002308864]	likely pathogenic	5	37006354	37006354	Human		name
155742035	CV1816539	single nucleotide variant	NM_133433.4(NIPBL):c.7861-1G>A	Inborn genetic diseases [RCV002412237]	pathogenic	5	37063789	37063789	Human	1	name
156215968	CV1869321	single nucleotide variant	NM_133433.4(NIPBL):c.868+17A>G	Cornelia de Lange syndrome 1 [RCV003058725]	likely benign	5	36972058	36972058	Human	1	name
155985793	CV1883978	single nucleotide variant	NM_133433.4(NIPBL):c.3664+8C>T	Cornelia de Lange syndrome 1 [RCV003075876]	likely benign	5	37001086	37001086	Human	1	name
156130048	CV1889366	single nucleotide variant	NM_133433.4(NIPBL):c.8049+7C>T	Cornelia de Lange syndrome 1 [RCV003081800]	likely benign	5	37063985	37063985	Human	1	name
156365864	CV1906280	single nucleotide variant	NM_133433.4(NIPBL):c.5709+4G>C	Cornelia de Lange syndrome 1 [RCV003092050]	uncertain significance	5	37024723	37024723	Human	1	name
156405083	CV1916863	single nucleotide variant	NM_133433.4(NIPBL):c.230+19A>G	Cornelia de Lange syndrome 1 [RCV002606247]	likely benign	5	36955656	36955656	Human	1	name
156418577	CV1922348	single nucleotide variant	NM_133433.4(NIPBL):c.7263+1G>A	Cornelia de Lange syndrome 1 [RCV002611776]	likely pathogenic	5	37052567	37052567	Human	1	name
156409701	CV1922826	single nucleotide variant	NM_133433.4(NIPBL):c.5574+7T>G	Cornelia de Lange syndrome 1 [RCV002607635]	likely benign	5	37022397	37022397	Human	1	name
156290986	CV1929280	single nucleotide variant	NM_133433.4(NIPBL):c.458+19G>A	Cornelia de Lange syndrome 1 [RCV002647193]	likely benign	5	36961602	36961602	Human	1	name
156436969	CV1936795	single nucleotide variant	NM_133433.4(NIPBL):c.3575-9C>T	Cornelia de Lange syndrome 1 [RCV003106496]	likely benign	5	37000980	37000980	Human	1	name
10048602	CV193876	single nucleotide variant	NM_133433.4(NIPBL):c.5808+2T>G	not provided [RCV000177577]	pathogenic	5	37026329	37026329	Human		name
10048634	CV194092	single nucleotide variant	NM_133433.4(NIPBL):c.6108+1G>C	not provided [RCV000177818]	pathogenic	5	37038739	37038739	Human		name
10048774	CV194607	deletion	NM_133433.4(NIPBL):c.6955-9del	Cornelia de Lange syndrome 1 [RCV001807113]\|not specified [RCV000178474]	benign	5	37051760	37051760	Human	1	name
156239792	CV1973156	single nucleotide variant	NM_133433.4(NIPBL):c.230+18T>C	Cornelia de Lange syndrome 1 [RCV002597107]	likely benign	5	36955655	36955655	Human	1	name
156351544	CV1985646	single nucleotide variant	NM_133433.4(NIPBL):c.7861-9T>G	Cornelia de Lange syndrome 1 [RCV002632012]	likely benign	5	37063781	37063781	Human	1	name
156415226	CV1990881	single nucleotide variant	NM_133433.4(NIPBL):c.4920+5T>G	Cornelia de Lange syndrome 1 [RCV002609569]\|not specified [RCV004690307]	uncertain significance	5	37017167	37017167	Human	1	name
156084067	CV1992953	single nucleotide variant	NM_133433.4(NIPBL):c.3769-8T>A	Cornelia de Lange syndrome 1 [RCV002638996]	likely benign	5	37003253	37003253	Human	1	name
156250668	CV1993353	single nucleotide variant	NM_133433.4(NIPBL):c.772-12C>T	Cornelia de Lange syndrome 1 [RCV002627438]	likely benign	5	36971933	36971933	Human	1	name
156086621	CV2007216	duplication	NM_133433.4(NIPBL):c.6955-9dup	Cornelia de Lange syndrome 1 [RCV002694794]\|Orofacial cleft 1 [RCV003320896]	benign\|uncertain significance	5	37051759	37051760	Human	2	name
156080777	CV2022762	deletion	NM_133433.4(NIPBL):c.458+17del	Cornelia de Lange syndrome 1 [RCV002760617]	likely benign	5	36961600	36961600	Human	1	name
156041038	CV2044055	single nucleotide variant	NM_133433.4(NIPBL):c.4088-9T>C	Cornelia de Lange syndrome 1 [RCV002781492]	likely benign	5	37007314	37007314	Human	1	name
156032432	CV2059211	single nucleotide variant	NM_133433.4(NIPBL):c.3121+7A>C	Cornelia de Lange syndrome 1 [RCV002796110]	likely benign	5	36986308	36986308	Human	1	name
155969436	CV2066246	single nucleotide variant	NM_133433.4(NIPBL):c.5226-3C>T	Cornelia de Lange syndrome 1 [RCV002842008]	uncertain significance	5	37020772	37020772	Human	1	name
10406631	CV207221	single nucleotide variant	NM_133433.4(NIPBL):c.1496-8A>G	Cornelia de Lange syndrome 1 [RCV000193488]	likely pathogenic	5	36984668	36984668	Human	1	name
10406742	CV207229	duplication	NM_133433.4(NIPBL):c.4320+2dup	Cornelia de Lange syndrome 1 [RCV000193944]	likely pathogenic	5	37008089	37008090	Human	1	name
10406392	CV207235	single nucleotide variant	NM_133433.4(NIPBL):c.4776+4A>G	not specified [RCV000192404]	uncertain significance	5	37016174	37016174	Human		name
10406767	CV207247	single nucleotide variant	NM_133433.4(NIPBL):c.6108+2T>C	Cornelia de Lange syndrome 1 [RCV000194053]	pathogenic	5	37038740	37038740	Human	1	name
10406978	CV207248	duplication	NM_133433.4(NIPBL):c.6249+2dup	Cornelia de Lange syndrome 1 [RCV000194935]	pathogenic	5	37044488	37044489	Human	1	name
10406419	CV207253	single nucleotide variant	NM_133433.4(NIPBL):c.7263+4A>C	not specified [RCV000192509]	pathogenic\|uncertain significance	5	37052570	37052570	Human		name
155920803	CV2073697	single nucleotide variant	NM_133433.4(NIPBL):c.4320+5G>A	Cornelia de Lange syndrome 1 [RCV002838309]	pathogenic	5	37008093	37008093	Human	1	name
155951250	CV2076394	single nucleotide variant	NM_133433.4(NIPBL):c.3664+1G>A	Cornelia de Lange syndrome 1 [RCV002862359]	likely pathogenic	5	37001079	37001079	Human	1	name
156084343	CV2079974	deletion	NM_133433.4(NIPBL):c.4088-8del	Cornelia de Lange syndrome 1 [RCV002847492]	likely benign	5	37007315	37007315	Human	1	name
156044627	CV2094291	single nucleotide variant	NM_133433.4(NIPBL):c.7264-7T>C	Cornelia de Lange syndrome 1 [RCV002885946]	likely benign	5	37057179	37057179	Human	1	name
156162427	CV2095320	single nucleotide variant	NM_133433.4(NIPBL):c.4777-6A>G	Cornelia de Lange syndrome 1 [RCV002891051]	likely benign	5	37017013	37017013	Human	1	name
155988253	CV2101807	single nucleotide variant	NM_133433.4(NIPBL):c.5574+5G>T	Cornelia de Lange syndrome 1 [RCV002908031]	conflicting interpretations of pathogenicity\|uncertain significance	5	37022395	37022395	Human	1	name
156060543	CV2155046	single nucleotide variant	NM_133433.4(NIPBL):c.6249+5G>A	Cornelia de Lange syndrome 1 [RCV003000187]	pathogenic	5	37044492	37044492	Human	1	name
156070503	CV2163384	single nucleotide variant	NM_133433.4(NIPBL):c.6954+7A>G	Cornelia de Lange syndrome 1 [RCV003020026]	likely benign	5	37049308	37049308	Human	1	name
156328721	CV2216252	single nucleotide variant	NM_133433.4(NIPBL):c.8050-5T>A	Inborn genetic diseases [RCV002717731]	uncertain significance	5	37064522	37064522	Human	1	name
156078640	CV2300837	single nucleotide variant	NM_133433.4(NIPBL):c.5575-5T>C	Cornelia de Lange syndrome 1 [RCV005059348]\|Inborn genetic diseases [RCV002887309]	likely benign\|uncertain significance	5	37024580	37024580	Human	2	name
243059901	CV2412736	single nucleotide variant	NM_133433.4(NIPBL):c.6344-1G>A	Cornelia de Lange syndrome 1 [RCV003135424]	likely pathogenic	5	37045442	37045442	Human	1	name
11543961	CV251949	single nucleotide variant	NM_133433.4(NIPBL):c.5226-4G>A	Cornelia de Lange syndrome 1 [RCV003497841]\|not specified [RCV000243152]	likely benign	5	37020771	37020771	Human	1	name
11560116	CV259825	deletion	NM_133433.4(NIPBL):c.7861-2del	not provided [RCV000255729]	pathogenic	5	37063788	37063788	Human		name
329953915	CV2669257	single nucleotide variant	NM_133433.4(NIPBL):c.3122-1G>T	not provided [RCV003231763]	pathogenic	5	36995621	36995621	Human		name
11633491	CV269449	single nucleotide variant	NM_133433.4(NIPBL):c.3855+2T>C	not provided [RCV000343728]	pathogenic	5	37003349	37003349	Human		name
401915657	CV2795323	single nucleotide variant	NM_133433.4(NIPBL):c.7861-1G>T	Neurodevelopmental disorder [RCV003389158]	likely pathogenic	5	37063789	37063789	Human	1	name
401964117	CV2843500	single nucleotide variant	NM_133433.4(NIPBL):c.5710-3T>C	not specified [RCV003479842]	uncertain significance	5	37026226	37026226	Human		name
405109184	CV2874641	single nucleotide variant	NM_133433.4(NIPBL):c.771+20T>G	Cornelia de Lange syndrome 1 [RCV003498968]	likely benign	5	36971056	36971056	Human	1	name
405110838	CV2876523	single nucleotide variant	NM_133433.4(NIPBL):c.5011-8C>T	Cornelia de Lange syndrome 1 [RCV003499167]	likely benign	5	37020451	37020451	Human	1	name
405104190	CV2896826	single nucleotide variant	NM_133433.4(NIPBL):c.4088-6T>C	Cornelia de Lange syndrome 1 [RCV003497634]	likely benign	5	37007317	37007317	Human	1	name
405104365	CV2907576	single nucleotide variant	NM_133433.4(NIPBL):c.8049+1G>A	Cornelia de Lange syndrome 1 [RCV003497700]	pathogenic	5	37063979	37063979	Human	1	name
405106687	CV2909102	single nucleotide variant	NM_133433.4(NIPBL):c.4239+7T>C	Cornelia de Lange syndrome 1 [RCV003498390]	likely benign	5	37007481	37007481	Human	1	name
405106950	CV2909580	single nucleotide variant	NM_133433.4(NIPBL):c.5972-1G>C	Cornelia de Lange syndrome 1 [RCV003498447]	pathogenic	5	37038601	37038601	Human	1	name
405107417	CV2921125	single nucleotide variant	NM_133433.4(NIPBL):c.5225+2T>G	Cornelia de Lange syndrome 1 [RCV003498551]	likely pathogenic	5	37020675	37020675	Human	1	name
405108148	CV2928395	single nucleotide variant	NM_133433.4(NIPBL):c.8049+6G>A	Cornelia de Lange syndrome 1 [RCV003498738]	uncertain significance	5	37063984	37063984	Human	1	name
404989238	CV2981700	single nucleotide variant	NM_133433.4(NIPBL):c.3575-2A>G	Cornelia de Lange syndrome 1 [RCV003604309]	likely pathogenic	5	37000987	37000987	Human	1	name
404993212	CV2994086	single nucleotide variant	NM_133433.4(NIPBL):c.869-15G>A	Cornelia de Lange syndrome 1 [RCV003604749]	likely benign	5	36975761	36975761	Human	1	name
11596594	CV299530	single nucleotide variant	NM_133433.4(NIPBL):c.5709+4G>A	Cornelia de Lange syndrome 1 [RCV000383988]\|Inborn genetic diseases [RCV002314075]	likely benign	5	37024723	37024723	Human	2	name
404994799	CV3016805	single nucleotide variant	NM_133433.4(NIPBL):c.868+16A>G	Cornelia de Lange syndrome 1 [RCV003604956]	likely benign	5	36972057	36972057	Human	1	name
404995891	CV3022176	single nucleotide variant	NM_133433.4(NIPBL):c.8050-8T>C	Cornelia de Lange syndrome 1 [RCV003605065]	likely benign	5	37064519	37064519	Human	1	name
405042985	CV3034816	deletion	NM_133433.4(NIPBL):c.4087+9del	Cornelia de Lange syndrome 1 [RCV003602694]	likely benign	5	37006597	37006597	Human	1	name
404983717	CV3061109	single nucleotide variant	NM_133433.4(NIPBL):c.4921-4A>G	Cornelia de Lange syndrome 1 [RCV003603658]	likely benign\|conflicting interpretations of pathogenicity	5	37019307	37019307	Human	1	name
404984943	CV3078453	single nucleotide variant	NM_133433.4(NIPBL):c.4321-6A>G	Cornelia de Lange syndrome 1 [RCV003603823]	likely benign	5	37008617	37008617	Human	1	name
404985218	CV3078689	single nucleotide variant	NM_133433.4(NIPBL):c.6764-6T>C	Cornelia de Lange syndrome 1 [RCV003603866]	likely benign	5	37049105	37049105	Human	1	name
405286379	CV3192153	single nucleotide variant	NM_133433.4(NIPBL):c.3855+8T>G	NIPBL-related disorder [RCV003924068]	likely benign	5	37003355	37003355	Human		name , trait , alternate_id
405272674	CV3197485	single nucleotide variant	NM_133433.4(NIPBL):c.3575-9C>G	NIPBL-related disorder [RCV003901454]	likely benign	5	37000980	37000980	Human		name , trait , alternate_id
405286394	CV3218763	single nucleotide variant	NM_133433.4(NIPBL):c.7686-8C>A	NIPBL-related disorder [RCV003959475]	likely benign	5	37060836	37060836	Human		name , trait , alternate_id
405281081	CV3223871	duplication	NM_133433.4(NIPBL):c.6589+8dup	not specified [RCV003988249]	uncertain significance	5	37046206	37046207	Human		name
407505666	CV3496060	single nucleotide variant	NM_133433.4(NIPBL):c.7263+4A>G	not provided [RCV004697900]	likely pathogenic	5	37052570	37052570	Human		name
408365406	CV3499880	single nucleotide variant	NM_133433.4(NIPBL):c.6954+3A>C	not provided [RCV004721922]	pathogenic	5	37049304	37049304	Human		name
408370609	CV3512279	single nucleotide variant	NM_133433.4(NIPBL):c.6109-4A>T	NIPBL-related disorder [RCV004739960]	likely benign	5	37044343	37044343	Human		name , trait , alternate_id
596946297	CV3550562	single nucleotide variant	NM_133433.4(NIPBL):c.4560+5G>C	not provided [RCV004819101]	pathogenic	5	37010230	37010230	Human		name
12742776	CV359703	single nucleotide variant	NM_133433.4(NIPBL):c.6108+5G>A	not provided [RCV000414501]	likely pathogenic	5	37038743	37038743	Human		name
12842185	CV368484	single nucleotide variant	NM_133433.4(NIPBL):c.6764-4G>C	not specified [RCV000433955]	likely benign	5	37049107	37049107	Human		name
12848983	CV368651	single nucleotide variant	NM_133433.4(NIPBL):c.4561-2A>G	not provided [RCV000421944]	likely pathogenic	5	37014681	37014681	Human		name
597665747	CV3721961	single nucleotide variant	NM_133433.4(NIPBL):c.3502+8A>G	Cornelia de Lange syndrome 1 [RCV005043299]	uncertain significance	5	37000578	37000578	Human	1	name
597720308	CV3721963	single nucleotide variant	NM_133433.4(NIPBL):c.3664+4A>G	Cornelia de Lange syndrome 1 [RCV005035678]	uncertain significance	5	37001082	37001082	Human	1	name
597665767	CV3721971	single nucleotide variant	NM_133433.4(NIPBL):c.4421+4A>C	Cornelia de Lange syndrome 1 [RCV005043301]	uncertain significance	5	37008727	37008727	Human	1	name
597720399	CV3721972	single nucleotide variant	NM_133433.4(NIPBL):c.4777-5T>C	Cornelia de Lange syndrome 1 [RCV005035686]	uncertain significance	5	37017014	37017014	Human	1	name
597665817	CV3721999	single nucleotide variant	NM_133433.4(NIPBL):c.6954+6C>T	Cornelia de Lange syndrome 1 [RCV005043306]	uncertain significance	5	37049307	37049307	Human	1	name
597665835	CV3722004	single nucleotide variant	NM_133433.4(NIPBL):c.7063-7A>T	Cornelia de Lange syndrome 1 [RCV005043308]	uncertain significance	5	37052359	37052359	Human	1	name
597884595	CV3741285	single nucleotide variant	NM_133433.4(NIPBL):c.231-20A>G	Cornelia de Lange syndrome 1 [RCV005070192]	likely benign	5	36958084	36958084	Human	1	name
597942195	CV3757496	single nucleotide variant	NM_133433.4(NIPBL):c.5428-7T>C	Cornelia de Lange syndrome 1 [RCV005077682]	likely benign	5	37022237	37022237	Human	1	name
597855580	CV3762693	single nucleotide variant	NM_133433.4(NIPBL):c.5972-4C>T	not specified [RCV005088611]	uncertain significance	5	37038598	37038598	Human		name
597961847	CV3795280	single nucleotide variant	NM_133433.4(NIPBL):c.5225+8C>A	Cornelia de Lange syndrome 1 [RCV005138972]	likely benign	5	37020681	37020681	Human	1	name
597883939	CV3799541	single nucleotide variant	NM_133433.4(NIPBL):c.5575-8G>C	Cornelia de Lange syndrome 1 [RCV005150208]	likely benign	5	37024577	37024577	Human	1	name
597875531	CV3813132	single nucleotide variant	NM_133433.4(NIPBL):c.771+13T>C	Cornelia de Lange syndrome 1 [RCV005149068]	likely benign	5	36971049	36971049	Human	1	name
597976224	CV3829242	single nucleotide variant	NM_133433.4(NIPBL):c.4921-5T>A	Cornelia de Lange syndrome 1 [RCV005169691]	likely benign	5	37019306	37019306	Human	1	name
597888017	CV3839155	single nucleotide variant	NM_133433.4(NIPBL):c.771+20T>A	Cornelia de Lange syndrome 1 [RCV005179240]	likely benign	5	36971056	36971056	Human	1	name
597904355	CV3845977	single nucleotide variant	NM_133433.4(NIPBL):c.358+19G>C	Cornelia de Lange syndrome 1 [RCV005181599]	likely benign	5	36958250	36958250	Human	1	name
597948494	CV3852509	single nucleotide variant	NM_133433.4(NIPBL):c.4561-4C>A	Cornelia de Lange syndrome 1 [RCV005189587]	likely benign	5	37014679	37014679	Human	1	name
597873418	CV3859262	single nucleotide variant	NM_133433.4(NIPBL):c.6589+4A>G	Cornelia de Lange syndrome 1 [RCV005197852]	uncertain significance	5	37046203	37046203	Human	1	name
616938964	CV4015291	single nucleotide variant	NM_133433.4(NIPBL):c.4643+2T>G	not provided [RCV005412800]	likely pathogenic	5	37014767	37014767	Human		name
13211598	CV425642	single nucleotide variant	NM_133433.4(NIPBL):c.3855+4A>C	not provided [RCV000497663]	uncertain significance	5	37003351	37003351	Human		name
13493662	CV455181	single nucleotide variant	NM_133433.4(NIPBL):c.6589+5G>A	Cornelia de Lange syndrome 1 [RCV000558355]\|not provided [RCV003319378]	pathogenic\|uncertain significance	5	37046204	37046204	Human	1	name
13491495	CV455189	single nucleotide variant	NM_133433.4(NIPBL):c.7263+3A>G	Cornelia de Lange syndrome 1 [RCV000534265]	uncertain significance	5	37052569	37052569	Human	1	name
13625589	CV521193	single nucleotide variant	NM_133433.4(NIPBL):c.3304+1G>A	Cornelia de Lange syndrome 1 [RCV000653708]\|Neurodevelopmental delay [RCV002274082]	pathogenic\|likely pathogenic	5	36995805	36995805	Human	3	name
13608994	CV535303	single nucleotide variant	NM_133433.4(NIPBL):c.5427+3A>G	not provided [RCV000656297]	uncertain significance	5	37022152	37022152	Human		name
13813601	CV560323	single nucleotide variant	NM_133433.4(NIPBL):c.3855+1G>A	Cornelia de Lange syndrome 1 [RCV000704470]	pathogenic\|likely pathogenic	5	37003348	37003348	Human	1	name
13803434	CV560327	single nucleotide variant	NM_133433.4(NIPBL):c.7410+4A>G	Cornelia de Lange syndrome 1 [RCV000684902]\|not provided [RCV002289957]	pathogenic\|likely pathogenic	5	37057336	37057336	Human	1	name
13818414	CV560454	single nucleotide variant	NM_133433.4(NIPBL):c.5011-1G>C	Cornelia de Lange syndrome 1 [RCV000707689]	likely pathogenic	5	37020458	37020458	Human	1	name
13833416	CV584650	single nucleotide variant	NM_133433.4(NIPBL):c.6590-9C>T	Cornelia de Lange syndrome 1 [RCV001425225]\|not provided [RCV000728675]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37048493	37048493	Human	1	name
15164809	CV730359	single nucleotide variant	NM_133433.4(NIPBL):c.5226-9T>G	Cornelia de Lange syndrome 1 [RCV001498845]	likely benign	5	37020766	37020766	Human	1	name
15151879	CV759590	duplication	NM_133433.4(NIPBL):c.6955-8dup	not provided [RCV000923763]	likely benign	5	37051770	37051771	Human		name
15118373	CV775101	single nucleotide variant	NM_133433.4(NIPBL):c.1496-9A>G	Cornelia de Lange syndrome 1 [RCV003497910]	likely benign	5	36984667	36984667	Human	1	name
28903082	CV896097	single nucleotide variant	NM_133433.4(NIPBL):c.-80+11G>C	Cornelia de Lange syndrome 1 [RCV001157400]	uncertain significance	5	36877189	36877189	Human	1	name
38458857	CV940816	single nucleotide variant	NM_133433.4(NIPBL):c.6763+1G>A	Cornelia de Lange syndrome 1 [RCV001224317]	pathogenic	5	37048676	37048676	Human	1	name
42723593	CV984495	single nucleotide variant	NM_133433.4(NIPBL):c.5575-1G>A	Cornelia de Lange syndrome 1 [RCV003497920]\|not provided [RCV001291554]	likely pathogenic	5	37024584	37024584	Human	1	name
126762071	CV990951	single nucleotide variant	NM_133433.4(NIPBL):c.6343+4A>T	Cornelia de Lange syndrome 1 [RCV001309782]	uncertain significance	5	37044733	37044733	Human	1	name
8643251	CV102234	single nucleotide variant	NM_133433.4(NIPBL):c.3575-17A>G	Cornelia de Lange syndrome 1 [RCV001807038]\|not provided [RCV001636652]\|not specified [RCV000082489]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	37000972	37000972	Human	1	name
127317719	CV1115888	single nucleotide variant	NM_133433.4(NIPBL):c.3856-10T>G	Cornelia de Lange syndrome 1 [RCV001465973]	likely benign	5	37006347	37006347	Human	1	name
150339460	CV1167363	single nucleotide variant	NM_133433.4(NIPBL):c.5809-69A>G	not provided [RCV001534252]	likely benign	5	37027290	37027290	Human		name
150335093	CV1171412	single nucleotide variant	NM_133433.4(NIPBL):c.5011-62T>C	not provided [RCV001540399]	benign	5	37020397	37020397	Human		name
150336737	CV1171413	single nucleotide variant	NM_133433.4(NIPBL):c.5575-26T>G	not provided [RCV001541153]	benign	5	37024559	37024559	Human		name
150331334	CV1171414	single nucleotide variant	NM_133433.4(NIPBL):c.5710-59A>G	not provided [RCV001538588]	likely benign	5	37026170	37026170	Human		name
150425344	CV1183652	single nucleotide variant	NM_133433.4(NIPBL):c.3855+73A>G	not provided [RCV001557877]	likely benign	5	37003420	37003420	Human		name
150425285	CV1183653	single nucleotide variant	NM_133433.4(NIPBL):c.4239+40A>G	not provided [RCV001557805]	likely benign	5	37007514	37007514	Human		name
150424413	CV1183655	single nucleotide variant	NM_133433.4(NIPBL):c.5329-33A>G	not provided [RCV001556625]	likely benign	5	37022018	37022018	Human		name
150427587	CV1186922	single nucleotide variant	NM_133433.4(NIPBL):c.771+262G>A	not provided [RCV001561119]	likely benign	5	36971298	36971298	Human		name
150427443	CV1186923	single nucleotide variant	NM_133433.4(NIPBL):c.868+231C>T	not provided [RCV001560929]	likely benign	5	36972272	36972272	Human		name
150405106	CV1193605	single nucleotide variant	NM_133433.4(NIPBL):c.5710-78G>A	not provided [RCV001571474]	likely benign	5	37026151	37026151	Human		name
150419042	CV1193606	single nucleotide variant	NM_133433.4(NIPBL):c.5809-32C>A	not provided [RCV001569500]	likely benign	5	37027327	37027327	Human		name
150438990	CV1201489	duplication	NM_133433.4(NIPBL):c.3122-22dup	not provided [RCV001583301]	likely benign	5	36995590	36995591	Human		name
150458753	CV1202811	single nucleotide variant	NM_133433.4(NIPBL):c.5574+35T>C	not provided [RCV001586464]	likely benign	5	37022425	37022425	Human		name
150477735	CV1203230	single nucleotide variant	NM_133433.4(NIPBL):c.6498+91A>G	not provided [RCV001589824]	likely benign	5	37045688	37045688	Human		name
150435089	CV1206910	single nucleotide variant	NM_133433.4(NIPBL):c.868+201C>T	not provided [RCV001582259]	likely benign	5	36972242	36972242	Human		name
150474327	CV1234432	deletion	NM_133433.4(NIPBL):c.231-103del	not provided [RCV001651752]	benign	5	36957984	36957984	Human		name
150461502	CV1234787	single nucleotide variant	NM_133433.4(NIPBL):c.231-149C>T	not provided [RCV001649369]	benign	5	36957955	36957955	Human		name
150498336	CV1235549	single nucleotide variant	NM_133433.4(NIPBL):c.7686-47G>A	not provided [RCV001656232]	benign	5	37060797	37060797	Human		name
150455988	CV1236823	single nucleotide variant	NM_133433.4(NIPBL):c.5863-30A>G	NIPBL-related disorder [RCV003910940]\|not provided [RCV001648559]	benign\|likely benign	5	37036349	37036349	Human	1	name , alternate_id
150511569	CV1242746	single nucleotide variant	NM_133433.4(NIPBL):c.611-238G>A	not provided [RCV001661099]	benign	5	36970638	36970638	Human		name
150434893	CV1244064	single nucleotide variant	NM_133433.4(NIPBL):c.6764-35C>G	not provided [RCV001665271]	benign	5	37049076	37049076	Human		name
150483256	CV1245080	single nucleotide variant	NM_133433.4(NIPBL):c.4561-86C>T	not provided [RCV001653257]	benign	5	37014597	37014597	Human		name
150439002	CV1247660	duplication	NM_133433.4(NIPBL):c.771+244dup	not provided [RCV001666027]	benign	5	36971267	36971268	Human		name
150509917	CV1248423	single nucleotide variant	NM_133433.4(NIPBL):c.4560+77A>G	not provided [RCV001659491]	benign	5	37010302	37010302	Human		name
150437548	CV1262325	single nucleotide variant	NM_133433.4(NIPBL):c.4422-23C>T	not provided [RCV001678683]	benign	5	37010064	37010064	Human		name
150463015	CV1276163	single nucleotide variant	NM_133433.4(NIPBL):c.7860+39G>A	not provided [RCV001710108]	benign	5	37061057	37061057	Human		name
150463392	CV1276218	duplication	NM_133433.4(NIPBL):c.5862+75dup	not provided [RCV001710163]	benign	5	37027474	37027475	Human		name
150454848	CV1277078	single nucleotide variant	NM_133433.4(NIPBL):c.5427+34C>T	not provided [RCV001708870]	benign	5	37022183	37022183	Human		name
150454984	CV1277105	single nucleotide variant	NM_133433.4(NIPBL):c.358+265A>G	not provided [RCV001708897]	benign	5	36958496	36958496	Human		name
150481033	CV1279645	single nucleotide variant	NM_133433.4(NIPBL):c.3665-98T>C	not provided [RCV001714765]	benign	5	37002564	37002564	Human		name
150491982	CV1280752	single nucleotide variant	NM_133433.4(NIPBL):c.4240-48C>T	not provided [RCV001716731]	benign	5	37007960	37007960	Human		name
150493884	CV1282297	single nucleotide variant	NM_133433.4(NIPBL):c.6498+64T>A	not provided [RCV001717098]	benign	5	37045661	37045661	Human		name
150505704	CV1286258	single nucleotide variant	NM_133433.4(NIPBL):c.1495+38C>A	not provided [RCV001719684]	benign	5	36976440	36976440	Human		name
150547774	CV1292187	single nucleotide variant	NM_133433.4(NIPBL):c.869-640G>C	Cornelia de Lange syndrome 1 [RCV001733845]	likely pathogenic	5	36975136	36975136	Human	1	name
150548602	CV1316427	deletion	NM_133433.4(NIPBL):c.5863-52del	not provided [RCV001786229]	likely benign	5	37036319	37036319	Human		name
152145076	CV1582612	single nucleotide variant	NM_133433.4(NIPBL):c.6249+14T>G	Cornelia de Lange syndrome 1 [RCV002201113]	likely benign	5	37044501	37044501	Human	1	name
9682981	CV168375	single nucleotide variant	NM_133433.4(NIPBL):c.3121+11T>G	Cornelia de Lange syndrome 1 [RCV000384599]\|not provided [RCV004717068]\|not specified [RCV000146567]	benign\|likely benign	5	36986312	36986312	Human	1	name
9683006	CV168396	single nucleotide variant	NM_133433.4(NIPBL):c.3856-12A>C	Cornelia de Lange syndrome 1 [RCV000146592]	uncertain significance	5	37006345	37006345	Human	1	name
9683015	CV168404	single nucleotide variant	NM_133433.4(NIPBL):c.4240-14T>G	Cornelia de Lange syndrome 1 [RCV000334474]\|not provided [RCV004715739]\|not specified [RCV000146601]	benign\|likely benign	5	37007994	37007994	Human	1	name
9683019	CV168409	single nucleotide variant	NM_133433.4(NIPBL):c.4320+14A>G	Cornelia de Lange syndrome 1 [RCV000395753]\|not specified [RCV000146605]	benign\|likely benign	5	37008102	37008102	Human	1	name
9683021	CV168410	single nucleotide variant	NM_133433.4(NIPBL):c.4321-15A>G	Cornelia de Lange syndrome 1 [RCV000146607]	conflicting interpretations of pathogenicity\|uncertain significance	5	37008608	37008608	Human	1	name
9683026	CV168415	single nucleotide variant	NM_133433.4(NIPBL):c.4561-16C>T	Cornelia de Lange syndrome 1 [RCV001807083]\|not provided [RCV004715740]\|not specified [RCV000146612]	benign	5	37014667	37014667	Human	1	name
9683037	CV168425	single nucleotide variant	NM_133433.4(NIPBL):c.4777-12T>C	not specified [RCV000146623]	likely benign	5	37017007	37017007	Human		name
9683044	CV168432	single nucleotide variant	NM_133433.4(NIPBL):c.5225+13G>A	not specified [RCV000146630]	benign	5	37020686	37020686	Human		name
9683045	CV168433	single nucleotide variant	NM_133433.4(NIPBL):c.5226-14A>G	not specified [RCV000146631]	likely benign	5	37020761	37020761	Human		name
9683049	CV168437	single nucleotide variant	NM_133433.4(NIPBL):c.5329-15A>G	Cornelia de Lange syndrome 1 [RCV000795862]\|Inborn genetic diseases [RCV002515967]\|NIPBL-related disorder [RCV003415975]\|not provided [RCV001582611]	pathogenic\|benign	5	37022036	37022036	Human	3	name , alternate_id
156386806	CV1891931	single nucleotide variant	NM_133433.4(NIPBL):c.6590-12C>T	Cornelia de Lange syndrome 1 [RCV003067628]	benign	5	37048490	37048490	Human	1	name
156337754	CV1902352	single nucleotide variant	NM_133433.4(NIPBL):c.5428-20T>G	Cornelia de Lange syndrome 1 [RCV003090171]	likely benign	5	37022224	37022224	Human	1	name
156194898	CV1912245	single nucleotide variant	NM_133433.4(NIPBL):c.7063-11A>C	Cornelia de Lange syndrome 1 [RCV002595500]	likely benign	5	37052355	37052355	Human	1	name
156141299	CV1921889	single nucleotide variant	NM_133433.4(NIPBL):c.4421+20G>T	Cornelia de Lange syndrome 1 [RCV002623670]	likely benign	5	37008743	37008743	Human	1	name
156063333	CV1925766	single nucleotide variant	NM_133433.4(NIPBL):c.7264-19T>C	Cornelia de Lange syndrome 1 [RCV002621021]	likely benign	5	37057167	37057167	Human	1	name
156070719	CV1928121	single nucleotide variant	NM_133433.4(NIPBL):c.5427+16G>A	Cornelia de Lange syndrome 1 [RCV002638592]	likely benign	5	37022165	37022165	Human	1	name
156244186	CV1973343	single nucleotide variant	NM_133433.4(NIPBL):c.4921-12T>C	Cornelia de Lange syndrome 1 [RCV002597249]	benign	5	37019299	37019299	Human	1	name
156332174	CV2000645	single nucleotide variant	NM_133433.4(NIPBL):c.6250-13C>T	Cornelia de Lange syndrome 1 [RCV002649879]	likely benign	5	37044623	37044623	Human	1	name
156122346	CV2016004	single nucleotide variant	NM_133433.4(NIPBL):c.6763+20T>C	Cornelia de Lange syndrome 1 [RCV002696085]	benign	5	37048695	37048695	Human	1	name
155950279	CV2046657	single nucleotide variant	NM_133433.4(NIPBL):c.7685+19T>G	Cornelia de Lange syndrome 1 [RCV002775736]	benign	5	37059184	37059184	Human	1	name
156184676	CV2055608	single nucleotide variant	NM_133433.4(NIPBL):c.6589+13T>C	Cornelia de Lange syndrome 1 [RCV002828417]	likely benign	5	37046212	37046212	Human	1	name
10407035	CV207230	deletion	NM_133433.4(NIPBL):c.4422-12del	Cornelia de Lange syndrome 1 [RCV001807139]\|not provided [RCV001711498]\|not specified [RCV000195188]	benign	5	37010068	37010068	Human	1	name
156011751	CV2096242	single nucleotide variant	NM_133433.4(NIPBL):c.3856-18A>G	Cornelia de Lange syndrome 1 [RCV002909147]	likely benign	5	37006339	37006339	Human	1	name
156192925	CV2099070	single nucleotide variant	NM_133433.4(NIPBL):c.3305-18A>G	Cornelia de Lange syndrome 1 [RCV002917509]	benign	5	37000355	37000355	Human	1	name
155927065	CV2099645	single nucleotide variant	NM_133433.4(NIPBL):c.4560+19G>A	Cornelia de Lange syndrome 1 [RCV002903627]	likely benign	5	37010244	37010244	Human	1	name
155992097	CV2116412	single nucleotide variant	NM_133433.4(NIPBL):c.3502+20G>A	Cornelia de Lange syndrome 1 [RCV002947377]	likely benign	5	37000590	37000590	Human	1	name
156352637	CV2118757	single nucleotide variant	NM_133433.4(NIPBL):c.5710-13C>G	Cornelia de Lange syndrome 1 [RCV002966413]	likely benign	5	37026216	37026216	Human	1	name
156039677	CV2143385	single nucleotide variant	NM_133433.4(NIPBL):c.6954+13T>G	Cornelia de Lange syndrome 1 [RCV002999468]	likely benign	5	37049314	37049314	Human	1	name
156129043	CV2158650	single nucleotide variant	NM_133433.4(NIPBL):c.4643+10A>G	Cornelia de Lange syndrome 1 [RCV003022103]	likely benign	5	37014775	37014775	Human	1	name
155995314	CV2171532	single nucleotide variant	NM_133433.4(NIPBL):c.6249+18C>G	Cornelia de Lange syndrome 1 [RCV003034517]	likely benign	5	37044505	37044505	Human	1	name
156183100	CV2178488	single nucleotide variant	NM_133433.4(NIPBL):c.3503-12T>C	Cornelia de Lange syndrome 1 [RCV003057591]	likely benign	5	37000805	37000805	Human	1	name
11549248	CV251947	single nucleotide variant	NM_133433.4(NIPBL):c.3502+17A>C	Cornelia de Lange syndrome 1 [RCV001807201]\|not specified [RCV000250163]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	37000587	37000587	Human	1	name
11551792	CV251948	single nucleotide variant	NM_133433.4(NIPBL):c.3574+20A>C	Cornelia de Lange syndrome 1 [RCV002519944]\|not specified [RCV000253503]	benign\|likely benign	5	37000908	37000908	Human	1	name
401944750	CV2840530	single nucleotide variant	NM_133433.4(NIPBL):c.8049+30G>A	not provided [RCV003457432]	likely benign	5	37064008	37064008	Human		name
405105159	CV2860480	single nucleotide variant	NM_133433.4(NIPBL):c.6955-20A>T	Cornelia de Lange syndrome 1 [RCV003498055]	likely benign	5	37051759	37051759	Human	1	name
405105744	CV2865302	single nucleotide variant	NM_133433.4(NIPBL):c.5011-16T>G	Cornelia de Lange syndrome 1 [RCV003498188]	likely benign	5	37020443	37020443	Human	1	name
405111171	CV2869626	single nucleotide variant	NM_133433.4(NIPBL):c.3664+19A>G	Cornelia de Lange syndrome 1 [RCV003499196]	likely benign	5	37001097	37001097	Human	1	name
405110568	CV2873352	single nucleotide variant	NM_133433.4(NIPBL):c.6250-11A>G	Cornelia de Lange syndrome 1 [RCV003499226]	likely benign	5	37044625	37044625	Human	1	name
405109720	CV2879051	single nucleotide variant	NM_133433.4(NIPBL):c.3768+15T>C	Cornelia de Lange syndrome 1 [RCV003499069]	likely benign	5	37002780	37002780	Human	1	name
405113846	CV2892330	deletion	NM_133433.4(NIPBL):c.8050-15del	Cornelia de Lange syndrome 1 [RCV003499636]	benign	5	37064507	37064507	Human	1	name
405103589	CV2895603	single nucleotide variant	NM_133433.4(NIPBL):c.5328+20C>T	Cornelia de Lange syndrome 1 [RCV003497414]	likely benign	5	37020897	37020897	Human	1	name
405114634	CV2898590	single nucleotide variant	NM_133433.4(NIPBL):c.6763+18T>C	Cornelia de Lange syndrome 1 [RCV003499914]	likely benign	5	37048693	37048693	Human	1	name
405104353	CV2907482	single nucleotide variant	NM_133433.4(NIPBL):c.5808+20G>C	Cornelia de Lange syndrome 1 [RCV003497695]	benign	5	37026347	37026347	Human	1	name
405106527	CV2919669	single nucleotide variant	NM_133433.4(NIPBL):c.5574+11C>A	Cornelia de Lange syndrome 1 [RCV003498356]	likely benign	5	37022401	37022401	Human	1	name
405050562	CV2952018	single nucleotide variant	NM_133433.4(NIPBL):c.6108+13C>T	Cornelia de Lange syndrome 1 [RCV003603468]	likely benign	5	37038751	37038751	Human	1	name
404988419	CV2969475	single nucleotide variant	NM_133433.4(NIPBL):c.3575-19A>G	Cornelia de Lange syndrome 1 [RCV003604222]	likely benign	5	37000970	37000970	Human	1	name
11584369	CV297447	single nucleotide variant	NM_133433.4(NIPBL):c.5710-13C>T	Cornelia de Lange syndrome 1 [RCV000273182]\|NIPBL-related disorder [RCV003912506]	benign\|likely benign	5	37026216	37026216	Human	2	name , alternate_id
404989791	CV2989112	single nucleotide variant	NM_133433.4(NIPBL):c.4777-16C>A	Cornelia de Lange syndrome 1 [RCV003604370]	likely benign	5	37017003	37017003	Human	1	name
404992529	CV2999599	single nucleotide variant	NM_133433.4(NIPBL):c.5427+20C>T	Cornelia de Lange syndrome 1 [RCV003604663]	likely benign	5	37022169	37022169	Human	1	name
404993393	CV3011492	single nucleotide variant	NM_133433.4(NIPBL):c.3305-17T>C	Cornelia de Lange syndrome 1 [RCV003604773]	likely benign	5	37000356	37000356	Human	1	name
404995460	CV3015811	single nucleotide variant	NM_133433.4(NIPBL):c.5972-14G>C	Cornelia de Lange syndrome 1 [RCV003604894]	likely benign	5	37038588	37038588	Human	1	name
404995326	CV3021356	single nucleotide variant	NM_133433.4(NIPBL):c.5809-18T>A	Cornelia de Lange syndrome 1 [RCV003605014]	likely benign	5	37027341	37027341	Human	1	name
405040492	CV3026928	single nucleotide variant	NM_133433.4(NIPBL):c.4087+18C>G	Cornelia de Lange syndrome 1 [RCV003602612]	likely benign	5	37006606	37006606	Human	1	name
405039868	CV3029570	single nucleotide variant	NM_133433.4(NIPBL):c.6954+18C>T	Cornelia de Lange syndrome 1 [RCV003602557]	likely benign	5	37049319	37049319	Human	1	name
11583574	CV303986	single nucleotide variant	NM_133433.4(NIPBL):c.4776+12G>A	Cornelia de Lange syndrome 1 [RCV000267661]	likely benign	5	37016182	37016182	Human	1	name
405045611	CV3047449	single nucleotide variant	NM_133433.4(NIPBL):c.1495+11C>G	Cornelia de Lange syndrome 1 [RCV003602904]	likely benign	5	36976413	36976413	Human	1	name
405044170	CV3054230	single nucleotide variant	NM_133433.4(NIPBL):c.6249+17C>T	Cornelia de Lange syndrome 1 [RCV003602919]	likely benign	5	37044504	37044504	Human	1	name
404983058	CV3056854	single nucleotide variant	NM_133433.4(NIPBL):c.5011-19C>G	Cornelia de Lange syndrome 1 [RCV003603574]	likely benign	5	37020440	37020440	Human	1	name
404985131	CV3070357	single nucleotide variant	NM_133433.4(NIPBL):c.5226-11T>C	Cornelia de Lange syndrome 1 [RCV003603852]	likely benign	5	37020764	37020764	Human	1	name
404985739	CV3073599	single nucleotide variant	NM_133433.4(NIPBL):c.5010+18T>C	Cornelia de Lange syndrome 1 [RCV003603940]	likely benign	5	37019418	37019418	Human	1	name
404985793	CV3073949	single nucleotide variant	NM_133433.4(NIPBL):c.6764-10G>A	Cornelia de Lange syndrome 1 [RCV003603947]	likely benign	5	37049101	37049101	Human	1	name
405120238	CV3116477	single nucleotide variant	NM_133433.4(NIPBL):c.6763+13A>G	Cornelia de Lange syndrome 1 [RCV003814778]	likely benign	5	37048688	37048688	Human	1	name
405128006	CV3132947	single nucleotide variant	NM_133433.4(NIPBL):c.3122-17T>G	Cornelia de Lange syndrome 1 [RCV003838110]	likely benign	5	36995605	36995605	Human	1	name
405189538	CV3149571	single nucleotide variant	NM_133433.4(NIPBL):c.4560+19G>T	Cornelia de Lange syndrome 1 [RCV003843297]	likely benign	5	37010244	37010244	Human	1	name
405246017	CV3162193	single nucleotide variant	NM_133433.4(NIPBL):c.3664+11C>T	Cornelia de Lange syndrome 1 [RCV003868712]\|not specified [RCV004587574]	likely benign	5	37001089	37001089	Human	1	name
405215090	CV3169965	single nucleotide variant	NM_133433.4(NIPBL):c.3121+19A>C	Cornelia de Lange syndrome 1 [RCV003862570]	likely benign	5	36986320	36986320	Human	1	name
402479347	CV3174418	single nucleotide variant	NM_133433.4(NIPBL):c.4644-16A>G	Cornelia de Lange syndrome 1 [RCV003875765]	likely benign	5	37016022	37016022	Human	1	name
405286033	CV3209835	single nucleotide variant	NM_133433.4(NIPBL):c.5710-22T>C	NIPBL-related disorder [RCV003959373]	benign	5	37026207	37026207	Human		name , trait , alternate_id
405267554	CV3219391	single nucleotide variant	NM_133433.4(NIPBL):c.5863-32G>A	NIPBL-related disorder [RCV003969633]	likely benign	5	37036347	37036347	Human		name , trait , alternate_id
405654144	CV3228143	deletion	NM_133433.4(NIPBL):c.5329-17del	Cornelia de Lange syndrome 1 [RCV005103184]\|not specified [RCV003994878]	likely benign	5	37022034	37022034	Human	1	name
407573836	CV3498209	single nucleotide variant	NM_133433.4(NIPBL):c.7063-13T>C	not specified [RCV004702198]	likely benign	5	37052353	37052353	Human		name
597665787	CV3721983	single nucleotide variant	NM_133433.4(NIPBL):c.5709+20A>G	Cornelia de Lange syndrome 1 [RCV005043303]	uncertain significance	5	37024739	37024739	Human	1	name
597720535	CV3721987	single nucleotide variant	NM_133433.4(NIPBL):c.5863-15T>A	Cornelia de Lange syndrome 1 [RCV005035698]	uncertain significance	5	37036364	37036364	Human	1	name
597720654	CV3722002	single nucleotide variant	NM_133433.4(NIPBL):c.7063-19A>T	Cornelia de Lange syndrome 1 [RCV005035709]	uncertain significance	5	37052347	37052347	Human	1	name
597837227	CV3736527	single nucleotide variant	NM_133433.4(NIPBL):c.3856-15A>C	Cornelia de Lange syndrome 1 [RCV005064200]	likely benign	5	37006342	37006342	Human	1	name
597933572	CV3742814	single nucleotide variant	NM_133433.4(NIPBL):c.5575-13T>C	Cornelia de Lange syndrome 1 [RCV005076253]	likely benign	5	37024572	37024572	Human	1	name
597846156	CV3753064	single nucleotide variant	NM_133433.4(NIPBL):c.3304+14A>C	Cornelia de Lange syndrome 1 [RCV005087289]	likely benign	5	36995818	36995818	Human	1	name
597851418	CV3761899	deletion	NM_133433.4(NIPBL):c.3502+10del	Cornelia de Lange syndrome 1 [RCV005087996]	likely benign	5	37000580	37000580	Human	1	name
597954115	CV3786616	single nucleotide variant	NM_133433.4(NIPBL):c.6250-10T>C	Cornelia de Lange syndrome 1 [RCV005121707]	uncertain significance	5	37044626	37044626	Human	1	name
597947711	CV3800771	single nucleotide variant	NM_133433.4(NIPBL):c.7861-19T>C	Cornelia de Lange syndrome 1 [RCV005135171]	likely benign	5	37063771	37063771	Human	1	name
597905137	CV3803649	single nucleotide variant	NM_133433.4(NIPBL):c.5010+20T>C	Cornelia de Lange syndrome 1 [RCV005153382]	likely benign	5	37019420	37019420	Human	1	name
597911348	CV3816919	single nucleotide variant	NM_133433.4(NIPBL):c.6250-13C>G	Cornelia de Lange syndrome 1 [RCV005154316]	likely benign	5	37044623	37044623	Human	1	name
597976170	CV3829180	single nucleotide variant	NM_133433.4(NIPBL):c.6343+15A>C	Cornelia de Lange syndrome 1 [RCV005169629]	likely benign	5	37044744	37044744	Human	1	name
597888164	CV3839188	single nucleotide variant	NM_133433.4(NIPBL):c.3305-13G>A	Cornelia de Lange syndrome 1 [RCV005179274]	likely benign	5	37000360	37000360	Human	1	name
597890212	CV3839709	single nucleotide variant	NM_133433.4(NIPBL):c.6589+18T>C	Cornelia de Lange syndrome 1 [RCV005179601]	likely benign	5	37046217	37046217	Human	1	name
597949777	CV3846771	deletion	NM_133433.4(NIPBL):c.5575-16del	Cornelia de Lange syndrome 1 [RCV005189942]	likely benign	5	37024569	37024569	Human	1	name
597944663	CV3847937	single nucleotide variant	NM_133433.4(NIPBL):c.5226-18A>G	Cornelia de Lange syndrome 1 [RCV005188667]	likely benign	5	37020757	37020757	Human	1	name
597902079	CV3851391	single nucleotide variant	NM_133433.4(NIPBL):c.5862+10C>G	Cornelia de Lange syndrome 1 [RCV005202167]	likely benign	5	37027422	37027422	Human	1	name
597910355	CV3854197	single nucleotide variant	NM_133433.4(NIPBL):c.6343+17G>C	Cornelia de Lange syndrome 1 [RCV005203466]	likely benign	5	37044746	37044746	Human	1	name
598122613	CV3884545	single nucleotide variant	NM_133433.4(NIPBL):c.5709+13G>C	not specified [RCV005237237]	likely benign	5	37024732	37024732	Human		name
598216947	CV3891346	single nucleotide variant	NM_133433.4(NIPBL):c.5863-23T>G	Cornelia de Lange syndrome 1 [RCV005252188]	uncertain significance	5	37036356	37036356	Human	1	name
13214926	CV428424	single nucleotide variant	NM_133433.4(NIPBL):c.3768+34T>G	not specified [RCV000501757]	likely benign	5	37002799	37002799	Human		name
13519464	CV491874	single nucleotide variant	NM_133433.4(NIPBL):c.5863-18A>G	not provided [RCV000597943]	uncertain significance	5	37036361	37036361	Human		name
13534770	CV500885	single nucleotide variant	NM_133433.4(NIPBL):c.5863-16A>G	not specified [RCV000602000]	likely benign	5	37036363	37036363	Human		name
13832843	CV584067	single nucleotide variant	NM_133433.4(NIPBL):c.5863-10G>A	not provided [RCV000727926]	uncertain significance	5	37036369	37036369	Human		name
14744126	CV660888	single nucleotide variant	NM_133433.4(NIPBL):c.4561-10T>C	NIPBL-related disorder [RCV003955555]\|not provided [RCV000842549]	likely benign	5	37014673	37014673	Human	1	name , alternate_id
14724982	CV661216	single nucleotide variant	NM_133433.4(NIPBL):c.4239+53T>C	not provided [RCV000833228]	benign	5	37007527	37007527	Human		name
14729063	CV661222	single nucleotide variant	NM_133433.4(NIPBL):c.4321-35T>C	not provided [RCV000835054]	likely benign	5	37008588	37008588	Human		name
14724985	CV661223	single nucleotide variant	NM_133433.4(NIPBL):c.4921-59G>A	not provided [RCV000833229]	benign	5	37019252	37019252	Human		name
14724979	CV661337	single nucleotide variant	NM_133433.4(NIPBL):c.3855+52A>G	not provided [RCV000833227]	benign	5	37003399	37003399	Human		name
15145448	CV744241	single nucleotide variant	NM_133433.4(NIPBL):c.7410+10A>C	not provided [RCV000900163]\|not specified [RCV004800632]	likely benign	5	37057342	37057342	Human		name
15108540	CV775019	single nucleotide variant	NM_133433.4(NIPBL):c.6343+10A>G	Cornelia de Lange syndrome 1 [RCV002544538]	likely benign	5	37044739	37044739	Human	1	name
15132378	CV779306	single nucleotide variant	NM_133433.4(NIPBL):c.3665-10G>A	Cornelia de Lange syndrome 1 [RCV003603082]	likely benign	5	37002652	37002652	Human	1	name
28899638	CV896098	single nucleotide variant	NM_133433.4(NIPBL):c.5011-13A>G	Cornelia de Lange syndrome 1 [RCV001155912]	benign\|likely benign	5	37020446	37020446	Human	1	name
28889564	CV896099	single nucleotide variant	NM_133433.4(NIPBL):c.7411-15G>A	Cornelia de Lange syndrome 1 [RCV001152138]	conflicting interpretations of pathogenicity\|uncertain significance	5	37058876	37058876	Human	1	name
150331813	CV1163463	single nucleotide variant	NM_133433.4(NIPBL):c.7264-239C>G	not provided [RCV001527956]	likely benign	5	37056947	37056947	Human		name
150330644	CV1171411	single nucleotide variant	NM_133433.4(NIPBL):c.3856-180T>C	not provided [RCV001538198]	likely benign	5	37006177	37006177	Human		name
150405613	CV1176616	deletion	NM_133433.4(NIPBL):c.3769-240del	not provided [RCV001544938]	likely benign	5	37003011	37003011	Human		name
150405879	CV1176617	single nucleotide variant	NM_133433.4(NIPBL):c.7063-184C>T	not provided [RCV001545061]	likely benign	5	37052182	37052182	Human		name
150410645	CV1176618	single nucleotide variant	NM_133433.4(NIPBL):c.7686-106T>G	not provided [RCV001546752]	likely benign	5	37060738	37060738	Human		name
150418582	CV1180009	single nucleotide variant	NM_133433.4(NIPBL):c.3769-239C>T	not provided [RCV001550663]	likely benign	5	37003022	37003022	Human		name
150423231	CV1183649	single nucleotide variant	NM_133433.4(NIPBL):c.3665-229A>G	not provided [RCV001555040]	likely benign	5	37002433	37002433	Human		name
150423142	CV1183651	duplication	NM_133433.4(NIPBL):c.3769-240dup	not provided [RCV001554932]	likely benign	5	37003010	37003011	Human		name
150425635	CV1183654	single nucleotide variant	NM_133433.4(NIPBL):c.4239+266T>C	not provided [RCV001558272]	likely benign	5	37007740	37007740	Human		name
150424920	CV1183656	single nucleotide variant	NM_133433.4(NIPBL):c.6955-122C>G	not provided [RCV001557314]	likely benign	5	37051657	37051657	Human		name
150426476	CV1186925	single nucleotide variant	NM_133433.4(NIPBL):c.4088-115C>T	not provided [RCV001559625]	likely benign	5	37007208	37007208	Human		name
150418068	CV1193607	single nucleotide variant	NM_133433.4(NIPBL):c.6108+120A>G	not provided [RCV001569049]	likely benign	5	37038858	37038858	Human		name
150422333	CV1193608	single nucleotide variant	NM_133433.4(NIPBL):c.6344-318G>T	not provided [RCV001570996]	likely benign	5	37045125	37045125	Human		name
150419421	CV1197372	single nucleotide variant	NM_133433.4(NIPBL):c.1495+272G>A	not provided [RCV001577173]	likely benign	5	36976674	36976674	Human		name
150417068	CV1197373	single nucleotide variant	NM_133433.4(NIPBL):c.3122-281T>C	not provided [RCV001576143]	likely benign	5	36995341	36995341	Human		name
150421282	CV1197374	single nucleotide variant	NM_133433.4(NIPBL):c.4644-287G>A	not provided [RCV001577970]	likely benign	5	37015751	37015751	Human		name
150418452	CV1197375	single nucleotide variant	NM_133433.4(NIPBL):c.5972-232C>T	not provided [RCV001576747]	likely benign	5	37038370	37038370	Human		name
150420775	CV1197376	single nucleotide variant	NM_133433.4(NIPBL):c.7861-104T>C	not provided [RCV001577756]	likely benign	5	37063686	37063686	Human		name
150476924	CV1203114	single nucleotide variant	NM_133433.4(NIPBL):c.7685+117A>C	not provided [RCV001589708]	likely benign	5	37059282	37059282	Human		name
150486180	CV1203258	single nucleotide variant	NM_133433.4(NIPBL):c.7685+113G>A	not provided [RCV001591436]	likely benign	5	37059278	37059278	Human		name
150434551	CV1204376	single nucleotide variant	NM_133433.4(NIPBL):c.4421+198G>A	not provided [RCV001582125]	likely benign	5	37008921	37008921	Human		name
150451636	CV1205419	single nucleotide variant	NM_133433.4(NIPBL):c.5329-184A>G	not provided [RCV001585319]	likely benign	5	37021867	37021867	Human		name
150431112	CV1206241	single nucleotide variant	NM_133433.4(NIPBL):c.3664+221G>A	not provided [RCV001580889]	likely benign	5	37001299	37001299	Human		name
150513937	CV1210776	single nucleotide variant	NM_133433.4(NIPBL):c.5574+283G>A	not provided [RCV001598817]	benign	5	37022673	37022673	Human		name
150508960	CV1214178	single nucleotide variant	NM_133433.4(NIPBL):c.5329-220T>C	not provided [RCV001596699]	benign	5	37021831	37021831	Human		name
150447883	CV1216180	single nucleotide variant	NM_133433.4(NIPBL):c.3665-126T>C	not provided [RCV001611478]	benign	5	37002536	37002536	Human		name
150511447	CV1229465	single nucleotide variant	NM_133433.4(NIPBL):c.4087+299T>A	not provided [RCV001637394]	benign	5	37006887	37006887	Human		name
150460711	CV1231380	single nucleotide variant	NM_133433.4(NIPBL):c.3121+285T>C	not provided [RCV001640945]	benign	5	36986586	36986586	Human		name
150464818	CV1241382	single nucleotide variant	NM_133433.4(NIPBL):c.3304+121T>C	not provided [RCV001649893]	benign	5	36995925	36995925	Human		name
150510627	CV1242451	single nucleotide variant	NM_133433.4(NIPBL):c.5972-260A>T	not provided [RCV001660801]	benign	5	37038342	37038342	Human		name
150486646	CV1251390	single nucleotide variant	NM_133433.4(NIPBL):c.4239+152C>G	not provided [RCV001674061]	benign	5	37007626	37007626	Human		name
150469704	CV1259703	single nucleotide variant	NM_133433.4(NIPBL):c.5574+261T>A	not provided [RCV001684004]	benign	5	37022651	37022651	Human		name
150455388	CV1259860	single nucleotide variant	NM_133433.4(NIPBL):c.3305-304C>T	not provided [RCV001681339]	benign	5	37000069	37000069	Human		name
150446859	CV1261426	single nucleotide variant	NM_133433.4(NIPBL):c.3122-148G>A	not provided [RCV001680100]	benign	5	36995474	36995474	Human		name
150485824	CV1262174	single nucleotide variant	NM_133433.4(NIPBL):c.4776+250A>G	not provided [RCV001686865]	benign	5	37016420	37016420	Human		name
150460465	CV1264178	single nucleotide variant	NM_133433.4(NIPBL):c.5574+298T>C	not provided [RCV001682094]	benign	5	37022688	37022688	Human		name
150461518	CV1264320	single nucleotide variant	NM_133433.4(NIPBL):c.5328+315G>T	not provided [RCV001682237]	benign	5	37021192	37021192	Human		name
150439139	CV1266732	duplication	NM_133433.4(NIPBL):c.3304+136dup	not provided [RCV001690167]	benign	5	36995933	36995934	Human		name
150496803	CV1283420	single nucleotide variant	NM_133433.4(NIPBL):c.7263+153A>T	not provided [RCV001717742]	benign	5	37052719	37052719	Human		name
150513366	CV1285142	single nucleotide variant	NM_133433.4(NIPBL):c.4560+121C>T	not provided [RCV001722012]	benign	5	37010346	37010346	Human		name
150513373	CV1285144	single nucleotide variant	NM_133433.4(NIPBL):c.5575-168A>T	not provided [RCV001722014]	benign	5	37024417	37024417	Human		name
150439811	CV1287094	single nucleotide variant	NM_133433.4(NIPBL):c.7263+198G>A	not provided [RCV001725009]	benign	5	37052764	37052764	Human		name
329847388	CV2524222	duplication	NM_133433.4(NIPBL):c.4421+205dup	not provided [RCV003227114]	likely benign	5	37008927	37008928	Human		name
401797825	CV2740990	single nucleotide variant	NM_133433.4(NIPBL):c.359-1085A>G	not provided [RCV003322154]	uncertain significance	5	36960399	36960399	Human		name
407572806	CV3497198	single nucleotide variant	NM_133433.4(NIPBL):c.359-1513G>A	not provided [RCV004699018]	uncertain significance	5	36959971	36959971	Human		name
14724987	CV660889	single nucleotide variant	NM_133433.4(NIPBL):c.6498+142A>G	not provided [RCV000833230]	benign	5	37045739	37045739	Human		name
14706213	CV661158	single nucleotide variant	NM_133433.4(NIPBL):c.7860+141A>G	not provided [RCV000826450]	benign	5	37061159	37061159	Human		name
14706207	CV661338	single nucleotide variant	NM_133433.4(NIPBL):c.5575-193T>C	not provided [RCV000826448]	benign	5	37024392	37024392	Human		name
14706211	CV661340	single nucleotide variant	NM_133433.4(NIPBL):c.5809-203C>A	not provided [RCV000826449]	benign	5	37027156	37027156	Human		name
8643257	CV102240	microsatellite	NM_133433.4(NIPBL):c.5863-31TA[9]	not provided [RCV001594832]\|not specified [RCV000082495]	benign	5	37036348	37036349	Human		name
150547775	CV1292188	single nucleotide variant	NM_133433.4(NIPBL):c.5862+3487C>T	Cornelia de Lange syndrome 1 [RCV001733846]	likely pathogenic	5	37030899	37030899	Human	1	name
151663727	CV1334193	single nucleotide variant	NM_133433.4(NIPBL):c.-79-11559C>T	Cornelia de Lange syndrome 1 [RCV001839367]	uncertain significance	5	36942059	36942059	Human	1	name
11663326	CV297448	deletion	NM_133433.4(NIPBL):c.265_266del	De Lange syndrome [RCV000394929]	uncertain significance	5	37065156	37065157	Human	1	name
11646870	CV297457	deletion	NM_133433.4(NIPBL):c.742_743del	De Lange syndrome [RCV000273355]	uncertain significance	5	37065633	37065634	Human	1	name
11652598	CV303998	deletion	NM_133433.4(NIPBL):c.282_285del	De Lange syndrome [RCV000306087]\|not provided [RCV001594985]	likely benign	5	37065172	37065175	Human	1	name
8643258	CV102241	microsatellite	NM_133433.4(NIPBL):c.5863-31TA[11]	not provided [RCV000082496]\|not specified [RCV000604035]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37036347	37036348	Human		name
153305145	CV1687553	microsatellite	NM_133433.4(NIPBL):c.-79-1564GC[6]	not provided [RCV002263374]	benign\|likely benign	5	36952054	36952061	Human		name
9688730	CV177875	microsatellite	NM_133433.4(NIPBL):c.5863-31TA[12]	not provided [RCV001539148]\|not specified [RCV000153572]	benign	5	37036347	37036348	Human		name
150422247	CV1193609	microsatellite	NM_133433.4(NIPBL):c.6764-164AC[11]	not provided [RCV001570939]	likely benign	5	37048947	37048948	Human		name
150510822	CV1229263	microsatellite	NM_133433.4(NIPBL):c.6764-164AC[14]	not provided [RCV001637191]	benign	5	37048946	37048947	Human		name
150501353	CV1238374	microsatellite	NM_133433.4(NIPBL):c.6764-164AC[13]	not provided [RCV001656804]	benign	5	37048946	37048947	Human		name
155959457	CV1936450	microsatellite	NM_133433.4(NIPBL):c.-79-1599TG[15]	not provided [RCV002512266]	benign\|likely benign	5	36952019	36952024	Human		name
10406606	CV207217	duplication	NM_133433.4(NIPBL):c.458+1_458+2dup	Cornelia de Lange syndrome 1 [RCV000193348]	pathogenic	5	36961583	36961584	Human	1	name
401912638	CV2827709	microsatellite	NM_133433.4(NIPBL):c.-79-1599TG[26]	not provided [RCV003427448]	benign	5	36952018	36952019	Human		name
401917624	CV2827710	microsatellite	NM_133433.4(NIPBL):c.-79-1599TG[17]	not provided [RCV003429602]	benign	5	36952019	36952020	Human		name
401917630	CV2827711	microsatellite	NM_133433.4(NIPBL):c.-79-1599TG[14]	not provided [RCV003429603]	benign\|likely benign	5	36952019	36952026	Human		name
407429383	CV3413794	deletion	NM_133433.4(NIPBL):c.5225_5225+6del	Cornelia de Lange syndrome 1 [RCV004595203]	pathogenic	5	37020672	37020678	Human	1	name
597719682	CV3721887	single nucleotide variant	NM_133433.4(NIPBL):c.9G>T (p.Gly3=)	Cornelia de Lange syndrome 1 [RCV005035618]	conflicting interpretations of pathogenicity\|uncertain significance	5	36953705	36953705	Human	1	name
26885625	CV852213	deletion	NM_133433.4(NIPBL):c.64+2_64+134del	Cornelia de Lange syndrome 1 [RCV001043668]	pathogenic	5	36953761	36953893	Human	1	name
150557043	CV1310370	duplication	NM_133433.4(NIPBL):c.10dup (p.Asp4fs)	Cornelia de Lange syndrome 1 [RCV001775298]	pathogenic	5	36953702	36953703	Human	1	name
9683010	CV168298	single nucleotide variant	NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)	Cornelia de Lange syndrome 1 [RCV000146596]	pathogenic	5	36953699	36953699	Human	1	name
9683157	CV168304	single nucleotide variant	NM_133433.4(NIPBL):c.87A>G (p.Pro29=)	not specified [RCV000146747]	likely benign	5	36955494	36955494	Human		name
8556658	CV17178	single nucleotide variant	NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	Cornelia de Lange syndrome 1 [RCV000002221]\|not provided [RCV004700178]	pathogenic\|likely pathogenic	5	36953698	36953698	Human	1	name
8556670	CV17190	indel	NM_133433.4(NIPBL):c.-321_-320delinsA	Cornelia de Lange syndrome 1 [RCV000002233]	pathogenic	5	36876937	36876938	Human		name
9688729	CV177873	single nucleotide variant	NM_133433.4(NIPBL):c.42G>A (p.Ala14=)	Cornelia de Lange syndrome 1 [RCV002516085]\|not specified [RCV000153570]	likely benign\|uncertain significance	5	36953738	36953738	Human	1	name
156220720	CV1899763	microsatellite	NM_133433.4(NIPBL):c.5808+6_5808+8del	Cornelia de Lange syndrome 1 [RCV003084984]\|Inborn genetic diseases [RCV005377279]	uncertain significance	5	37026330	37026332	Human		name
155908140	CV1979905	deletion	NM_133433.4(NIPBL):c.7062+7_7062+8del	Cornelia de Lange syndrome 1 [RCV002613795]	likely benign	5	37051892	37051893	Human	1	name
10406550	CV207228	deletion	NM_133433.4(NIPBL):c.3856-7_3856-5del	Cornelia de Lange syndrome 1 [RCV000193100]	likely pathogenic	5	37006349	37006351	Human	1	name
155945460	CV2111550	single nucleotide variant	NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)	Cornelia de Lange syndrome 1 [RCV002904736]	uncertain significance	5	36953701	36953701	Human	1	name
156320638	CV2170346	single nucleotide variant	NM_133433.4(NIPBL):c.99T>C (p.Pro33=)	Cornelia de Lange syndrome 1 [RCV003029135]	likely benign	5	36955506	36955506	Human	1	name
401830102	CV2743975	deletion	NM_133433.4(NIPBL):c.5225+2_5225+5del	not provided [RCV003327152]	pathogenic	5	37020672	37020675	Human		name
401880114	CV2769923	deletion	NM_133433.4(NIPBL):c.4560+2_4560+5del	Inborn genetic diseases [RCV003364515]	pathogenic	5	37010224	37010227	Human	1	name
401907460	CV2801124	deletion	NM_133433.4(NIPBL):c.5329-8_5329-5del	NIPBL-related disorder [RCV003397366]	uncertain significance	5	37022040	37022043	Human		name , trait , alternate_id
405104103	CV2903149	deletion	NM_133433.4(NIPBL):c.19del (p.His7fs)	Cornelia de Lange syndrome 1 [RCV003497602]	pathogenic	5	36953712	36953712	Human	1	name
405047436	CV2937463	deletion	NM_133433.4(NIPBL):c.611-14_611-12del	Cornelia de Lange syndrome 1 [RCV003603222]	likely benign	5	36970860	36970862	Human	1	name
405112874	CV3118675	single nucleotide variant	NM_133433.4(NIPBL):c.45G>C (p.Gly15=)	Cornelia de Lange syndrome 1 [RCV003813903]	likely benign	5	36953741	36953741	Human	1	name
405854939	CV3395068	deletion	NM_133433.4(NIPBL):c.6763+1_6763+2del	Cornelia de Lange syndrome 1 [RCV004555210]	likely pathogenic	5	37048675	37048676	Human	1	name
597872855	CV3768806	deletion	NM_133433.4(NIPBL):c.4422-8_4422-5del	Cornelia de Lange syndrome 1 [RCV005122976]	likely benign	5	37010077	37010080	Human	1	name
597964344	CV3792239	deletion	NM_133433.4(NIPBL):c.6344-9_6344-4del	Cornelia de Lange syndrome 1 [RCV005139797]	pathogenic	5	37045430	37045435	Human	1	name
13673944	CV536158	deletion	NM_133433.3(NIPBL):c.3856-?_4239+?del	Cornelia de Lange syndrome 1 [RCV000656700]	uncertain significance				Human	1	name
13831594	CV582092	microsatellite	NM_133433.4(NIPBL):c.6498+4_6498+9del	Cornelia de Lange syndrome 1 [RCV005046980]\|not provided [RCV000722274]	uncertain significance	5	37045595	37045600	Human		name
8643241	CV102224	microsatellite	NM_133433.4(NIPBL):c.1495+8_1495+10del	Cornelia de Lange syndrome 1 [RCV000871366]\|De Lange syndrome [RCV000314623]\|not provided [RCV001573248]\|not specified [RCV000082479]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36976407	36976409	Human		name
8643243	CV102226	single nucleotide variant	NM_133433.4(NIPBL):c.198C>G (p.Val66=)	Cornelia de Lange syndrome 1 [RCV000528247]\|Inborn genetic diseases [RCV002415583]\|not provided [RCV001576717]\|not specified [RCV000082481]	benign\|likely benign\|uncertain significance	5	36955605	36955605	Human	2	name
150520293	CV1290518	indel	NM_133433.4(NIPBL):c.-457_-456delinsAT	Neurodevelopmental abnormality [RCV001731236]	likely pathogenic	5	36876801	36876802	Human		name
150555016	CV1310006	deletion	NM_133433.4(NIPBL):c.4643+1_4643+10del	not provided [RCV003238012]	pathogenic	5	37014762	37014771	Human		name
152108229	CV1643478	single nucleotide variant	NM_133433.4(NIPBL):c.123C>T (p.Leu41=)	Cornelia de Lange syndrome 1 [RCV002096484]\|NIPBL-related disorder [RCV003893304]	likely benign	5	36955530	36955530	Human	2	name , alternate_id
9683156	CV168303	deletion	NM_133433.4(NIPBL):c.86del (p.Pro29fs)	Cornelia de Lange syndrome 1 [RCV000146746]	pathogenic	5	36955492	36955492	Human	1	name
9682976	CV168308	single nucleotide variant	NM_133433.4(NIPBL):c.294C>T (p.Ala98=)	Cornelia de Lange syndrome 1 [RCV000401918]\|Inborn genetic diseases [RCV002433632]\|not provided [RCV000945874]\|not specified [RCV000146562]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	36958167	36958167	Human	2	name
9693121	CV177874	single nucleotide variant	NM_133433.4(NIPBL):c.126T>C (p.Phe42=)	Cornelia de Lange syndrome 1 [RCV001807100]\|not provided [RCV000723805]\|not specified [RCV000153571]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36955533	36955533	Human	1	name
155695616	CV1844668	single nucleotide variant	NM_133433.4(NIPBL):c.225T>C (p.Asp75=)	Inborn genetic diseases [RCV002443717]	likely benign	5	36955632	36955632	Human	1	name
155930637	CV1909001	single nucleotide variant	NM_133433.4(NIPBL):c.132A>G (p.Ala44=)	Cornelia de Lange syndrome 1 [RCV002614975]	likely benign	5	36955539	36955539	Human	1	name
10406578	CV207246	duplication	NM_133433.4(NIPBL):c.5863-10_5863-3dup	not specified [RCV000193226]	likely benign	5	37036361	37036362	Human		name
11632833	CV264251	duplication	NM_133433.4(NIPBL):c.40dup (p.Ala14fs)	not provided [RCV000289950]	pathogenic	5	36953735	36953736	Human		name
404989228	CV2981699	insertion	NM_133433.4(NIPBL):c.3575-3_3575-2insG	Cornelia de Lange syndrome 1 [RCV003604308]	uncertain significance	5	37000986	37000987	Human	1	name
405229241	CV3153470	single nucleotide variant	NM_133433.4(NIPBL):c.297C>T (p.Val99=)	Cornelia de Lange syndrome 1 [RCV003848535]	likely benign	5	36958170	36958170	Human	1	name
405286873	CV3205526	deletion	NM_133433.4(NIPBL):c.5863-23_5863-2del	NIPBL-related disorder [RCV003959678]	likely benign	5	37036336	37036357	Human		name , trait , alternate_id
597941612	CV3757430	single nucleotide variant	NM_133433.4(NIPBL):c.201T>C (p.His67=)	Cornelia de Lange syndrome 1 [RCV005077616]	likely benign	5	36955608	36955608	Human	1	name
597880877	CV3810254	single nucleotide variant	NM_133433.4(NIPBL):c.117C>T (p.Ser39=)	Cornelia de Lange syndrome 1 [RCV005149715]	likely benign	5	36955524	36955524	Human	1	name
15112921	CV695292	deletion	NM_133433.4(NIPBL):c.5863-19_5863-2del	Cornelia de Lange syndrome 1 [RCV000872632]	likely benign	5	37036352	37036369	Human	1	name
15115594	CV782284	single nucleotide variant	NM_133433.4(NIPBL):c.111A>G (p.Thr37=)	not provided [RCV000978436]	likely benign	5	36955518	36955518	Human		name
8646395	CV105812	deletion	NM_133433.4(NIPBL):c.192del (p.Gln64fs)	Cornelia de Lange syndrome 1 [RCV000086369]	pathogenic	5	36955599	36955599	Human	1	name
150425448	CV1183647	deletion	NM_133433.4(NIPBL):c.231-105_231-103del	not provided [RCV001557997]	likely benign	5	36957984	36957986	Human		name
150513354	CV1285138	deletion	NM_133433.4(NIPBL):c.231-104_231-103del	not provided [RCV001722008]	benign	5	36957984	36957985	Human		name
152175978	CV1562113	single nucleotide variant	NM_133433.4(NIPBL):c.300G>A (p.Leu100=)	Cornelia de Lange syndrome 1 [RCV002164117]\|NIPBL-related disorder [RCV003978880]	likely benign	5	36958173	36958173	Human	2	name , alternate_id
152163495	CV1635912	single nucleotide variant	NM_133433.4(NIPBL):c.606A>G (p.Gln202=)	Cornelia de Lange syndrome 1 [RCV002203839]	likely benign	5	36962270	36962270	Human	1	name
9682990	CV168311	single nucleotide variant	NM_133433.4(NIPBL):c.345A>G (p.Arg115=)	Cornelia de Lange syndrome 1 [RCV000146576]	likely pathogenic\|uncertain significance	5	36958218	36958218	Human	1	name
9683053	CV168315	single nucleotide variant	NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)	Cornelia de Lange syndrome 1 [RCV001157403]\|Inborn genetic diseases [RCV002316936]\|NIPBL-related disorder [RCV003952702]\|not provided [RCV000951209]\|not specified [RCV000146639]	benign\|likely benign	5	36962198	36962198	Human	3	name , alternate_id
9683085	CV168319	single nucleotide variant	NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	Cornelia de Lange syndrome 1 [RCV001088387]\|Inborn genetic diseases [RCV002354334]\|not provided [RCV000726388]\|not specified [RCV000146672]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36970880	36970880	Human	2	name
9683116	CV168320	single nucleotide variant	NM_133433.4(NIPBL):c.678G>A (p.Pro226=)	Cornelia de Lange syndrome 1 [RCV000146703]	conflicting interpretations of pathogenicity\|uncertain significance	5	36970943	36970943	Human	1	name
9683160	CV168328	single nucleotide variant	NM_133433.4(NIPBL):c.894A>G (p.Gln298=)	Cornelia de Lange syndrome 1 [RCV000146750]\|NIPBL-related disorder [RCV003965105]\|not provided [RCV004721276]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36975801	36975801	Human	2	name , alternate_id
8556660	CV17180	deletion	NM_133433.4(NIPBL):c.150del (p.Asn51fs)	Cornelia de Lange syndrome 1 [RCV000002223]	pathogenic	5	36955557	36955557	Human	1	name
155721961	CV1805622	single nucleotide variant	NM_133433.4(NIPBL):c.483C>T (p.Ser161=)	Cornelia de Lange syndrome 1 [RCV003096490]\|Inborn genetic diseases [RCV002338119]\|NIPBL-related disorder [RCV003961006]	benign\|likely benign	5	36962147	36962147	Human	3	name , alternate_id
155683332	CV1815003	single nucleotide variant	NM_133433.4(NIPBL):c.927T>C (p.Asp309=)	Inborn genetic diseases [RCV002371466]	likely benign	5	36975834	36975834	Human	1	name
155729473	CV1823532	single nucleotide variant	NM_133433.4(NIPBL):c.771C>T (p.Asp257=)	Cornelia de Lange syndrome 1 [RCV003603126]\|Inborn genetic diseases [RCV002400672]	likely benign\|uncertain significance	5	36971036	36971036	Human	2	name
155699268	CV1824591	single nucleotide variant	NM_133433.4(NIPBL):c.891A>G (p.Leu297=)	Inborn genetic diseases [RCV002376106]	likely benign	5	36975798	36975798	Human	1	name
155684336	CV1824852	single nucleotide variant	NM_133433.4(NIPBL):c.933A>C (p.Pro311=)	Inborn genetic diseases [RCV002371650]	likely benign	5	36975840	36975840	Human	1	name
156386713	CV1875058	deletion	NM_133433.4(NIPBL):c.3856-23_3856-13del	Cornelia de Lange syndrome 1 [RCV003050922]	likely benign	5	37006333	37006343	Human	1	name
156415636	CV1955450	single nucleotide variant	NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)	Cornelia de Lange syndrome 1 [RCV002589278]\|not provided [RCV004546736]	likely benign	5	36958221	36958221	Human	1	name
156087369	CV1989519	deletion	NM_133433.4(NIPBL):c.4421+15_4421+16del	Cornelia de Lange syndrome 1 [RCV002639100]	likely benign	5	37008737	37008738	Human	1	name
156093374	CV2102779	single nucleotide variant	NM_133433.4(NIPBL):c.834A>T (p.Val278=)	Cornelia de Lange syndrome 1 [RCV002913122]	likely benign	5	36972007	36972007	Human	1	name
155990990	CV2116213	single nucleotide variant	NM_133433.4(NIPBL):c.708T>G (p.Ala236=)	Cornelia de Lange syndrome 1 [RCV002947328]	likely benign	5	36970973	36970973	Human	1	name
156185549	CV2164068	single nucleotide variant	NM_133433.4(NIPBL):c.807T>G (p.Ser269=)	Cornelia de Lange syndrome 1 [RCV003023965]	likely benign	5	36971980	36971980	Human	1	name
156401635	CV2191266	single nucleotide variant	NM_133433.4(NIPBL):c.546C>T (p.Ser182=)	Cornelia de Lange syndrome 1 [RCV003052366]	likely benign	5	36962210	36962210	Human	1	name
401922890	CV2796563	single nucleotide variant	NM_133433.4(NIPBL):c.73C>T (p.Gln25Ter)	NIPBL-related disorder [RCV003404183]	likely pathogenic	5	36955480	36955480	Human		name , trait , alternate_id
401917636	CV2827714	single nucleotide variant	NM_133433.4(NIPBL):c.444A>C (p.Ser148=)	not provided [RCV003429606]	likely benign	5	36961569	36961569	Human		name
401917638	CV2827715	single nucleotide variant	NM_133433.4(NIPBL):c.768T>C (p.Ser256=)	not provided [RCV003429607]	likely benign	5	36971033	36971033	Human		name
405110102	CV2872768	microsatellite	NM_133433.4(NIPBL):c.5427+24_5427+27del	Cornelia de Lange syndrome 1 [RCV003499139]	likely benign	5	37022167	37022170	Human		name
405112390	CV2881044	single nucleotide variant	NM_133433.4(NIPBL):c.453C>T (p.Pro151=)	Cornelia de Lange syndrome 1 [RCV003499527]	likely benign	5	36961578	36961578	Human	1	name
405114768	CV2890085	microsatellite	NM_133433.4(NIPBL):c.4421+18_4421+19del	Cornelia de Lange syndrome 1 [RCV003499803]	likely benign	5	37008739	37008740	Human		name
405103781	CV2895968	microsatellite	NM_133433.4(NIPBL):c.5972-16_5972-15del	Cornelia de Lange syndrome 1 [RCV003497485]	likely benign	5	37038583	37038584	Human		name
405104292	CV2901134	single nucleotide variant	NM_133433.4(NIPBL):c.760C>T (p.Leu254=)	Cornelia de Lange syndrome 1 [RCV003497673]	uncertain significance	5	36971025	36971025	Human	1	name
404987244	CV2974289	single nucleotide variant	NM_133433.4(NIPBL):c.904C>T (p.Leu302=)	Cornelia de Lange syndrome 1 [RCV003604091]	likely benign	5	36975811	36975811	Human	1	name
404993850	CV3005181	single nucleotide variant	NM_133433.4(NIPBL):c.444A>G (p.Ser148=)	Cornelia de Lange syndrome 1 [RCV003604831]	likely benign	5	36961569	36961569	Human	1	name
405043510	CV3043198	deletion	NM_133433.4(NIPBL):c.4087+15_4087+20del	Cornelia de Lange syndrome 1 [RCV003602847]	likely benign	5	37006601	37006606	Human	1	name
405044215	CV3050967	single nucleotide variant	NM_133433.4(NIPBL):c.460C>A (p.Arg154=)	Cornelia de Lange syndrome 1 [RCV003602923]	uncertain significance	5	36962124	36962124	Human	1	name
404986379	CV3071116	deletion	NM_133433.4(NIPBL):c.3574+12_3574+16del	Cornelia de Lange syndrome 1 [RCV003603955]	uncertain significance	5	37000897	37000901	Human	1	name
404985063	CV3073022	single nucleotide variant	NM_133433.4(NIPBL):c.879A>G (p.Pro293=)	Cornelia de Lange syndrome 1 [RCV003603842]	likely benign	5	36975786	36975786	Human	1	name
405255022	CV3175673	single nucleotide variant	NM_133433.4(NIPBL):c.843T>C (p.Pro281=)	Cornelia de Lange syndrome 1 [RCV003871940]	likely benign	5	36972016	36972016	Human	1	name
405277486	CV3195806	single nucleotide variant	NM_133433.4(NIPBL):c.618A>G (p.Val206=)	NIPBL-related disorder [RCV003904338]	likely benign	5	36970883	36970883	Human		name , trait , alternate_id
405289457	CV3205186	single nucleotide variant	NM_133433.4(NIPBL):c.732T>C (p.Ser244=)	Cornelia de Lange syndrome 1 [RCV005102933]\|NIPBL-related disorder [RCV003961781]	likely benign	5	36970997	36970997	Human	2	name , alternate_id
407573762	CV3498111	single nucleotide variant	NM_133433.4(NIPBL):c.43G>A (p.Gly15Arg)	not provided [RCV004702098]	likely pathogenic	5	36953739	36953739	Human		name
408371436	CV3516087	single nucleotide variant	NM_133433.4(NIPBL):c.828G>A (p.Gln276=)	NIPBL-related disorder [RCV004740836]	likely benign	5	36972001	36972001	Human		name , trait , alternate_id
597723311	CV3556154	single nucleotide variant	NM_133433.4(NIPBL):c.68T>G (p.Leu23Arg)	Inborn genetic diseases [RCV004961772]	uncertain significance	5	36955475	36955475	Human	1	name
597719692	CV3721888	single nucleotide variant	NM_133433.4(NIPBL):c.64C>T (p.Leu22Phe)	Cornelia de Lange syndrome 1 [RCV005035619]	uncertain significance	5	36953760	36953760	Human	1	name
597665416	CV3721889	single nucleotide variant	NM_133433.4(NIPBL):c.89C>G (p.Ser30Cys)	Cornelia de Lange syndrome 1 [RCV005043284]	uncertain significance	5	36955496	36955496	Human	1	name
597719798	CV3721903	single nucleotide variant	NM_133433.4(NIPBL):c.753G>T (p.Val251=)	Cornelia de Lange syndrome 1 [RCV005035630]	uncertain significance	5	36971018	36971018	Human	1	name
597836443	CV3757687	deletion	NM_133433.4(NIPBL):c.4920+13_4920+14del	Cornelia de Lange syndrome 1 [RCV005085701]	likely benign	5	37017173	37017174	Human	1	name
597851512	CV3761930	deletion	NM_133433.4(NIPBL):c.4777-14_4777-13del	Cornelia de Lange syndrome 1 [RCV005088027]	likely benign	5	37017004	37017005	Human	1	name
597930603	CV3780125	single nucleotide variant	NM_133433.4(NIPBL):c.636A>T (p.Ala212=)	Cornelia de Lange syndrome 1 [RCV005116445]	likely benign	5	36970901	36970901	Human	1	name
597958705	CV3797317	deletion	NM_133433.4(NIPBL):c.5972-25_5972-13del	Cornelia de Lange syndrome 1 [RCV005138004]	uncertain significance	5	37038574	37038586	Human	1	name
597925600	CV3808815	microsatellite	NM_133433.4(NIPBL):c.1495+18_1495+20del	Cornelia de Lange syndrome 1 [RCV005156330]	likely benign	5	36976416	36976418	Human		name
597944360	CV3812536	single nucleotide variant	NM_133433.4(NIPBL):c.513T>C (p.Asn171=)	Cornelia de Lange syndrome 1 [RCV005159746]	likely benign	5	36962177	36962177	Human	1	name
597899622	CV3835222	single nucleotide variant	NM_133433.4(NIPBL):c.879A>C (p.Pro293=)	Cornelia de Lange syndrome 1 [RCV005180942]	likely benign	5	36975786	36975786	Human	1	name
597919361	CV3861684	single nucleotide variant	NM_133433.4(NIPBL):c.741C>T (p.Tyr247=)	Cornelia de Lange syndrome 1 [RCV005204840]	likely benign	5	36971006	36971006	Human	1	name
598217642	CV3891484	deletion	NM_133433.4(NIPBL):c.123del (p.Phe42fs)	Cornelia de Lange syndrome 1 [RCV005252326]	likely pathogenic	5	36955530	36955530	Human	1	name
13492781	CV454996	deletion	NM_133433.4(NIPBL):c.169del (p.Arg57fs)	Cornelia de Lange syndrome 1 [RCV000535205]	pathogenic	5	36955576	36955576	Human	1	name
13536534	CV501344	single nucleotide variant	NM_133433.4(NIPBL):c.891A>C (p.Leu297=)	not specified [RCV000609145]	likely benign	5	36975798	36975798	Human		name
13829651	CV579138	single nucleotide variant	NM_133433.4(NIPBL):c.435C>T (p.Thr145=)	Inborn genetic diseases [RCV002317961]	likely benign	5	36961560	36961560	Human	1	name
13829950	CV579148	single nucleotide variant	NM_133433.4(NIPBL):c.804A>G (p.Ala268=)	Cornelia de Lange syndrome 1 [RCV001807333]\|Inborn genetic diseases [RCV002318742]\|not provided [RCV004711296]	benign\|likely benign	5	36971977	36971977	Human	2	name
13830366	CV579156	single nucleotide variant	NM_133433.4(NIPBL):c.915A>G (p.Ser305=)	Inborn genetic diseases [RCV002317486]	likely benign	5	36975822	36975822	Human	1	name
13829293	CV579162	single nucleotide variant	NM_133433.4(NIPBL):c.961A>C (p.Arg321=)	Cornelia de Lange syndrome 1 [RCV003497879]\|Inborn genetic diseases [RCV002313584]	benign\|likely benign	5	36975868	36975868	Human	2	name
15143929	CV691855	single nucleotide variant	NM_133433.4(NIPBL):c.462G>A (p.Arg154=)	Cornelia de Lange syndrome 1 [RCV000878133]	likely benign	5	36962126	36962126	Human	1	name
15175126	CV709903	single nucleotide variant	NM_133433.4(NIPBL):c.834A>G (p.Val278=)	Cornelia de Lange syndrome 1 [RCV000972871]\|not provided [RCV001531415]	likely benign	5	36972007	36972007	Human	1	name
15107851	CV749486	single nucleotide variant	NM_133433.4(NIPBL):c.948A>G (p.Leu316=)	Cornelia de Lange syndrome 1 [RCV003497899]\|Inborn genetic diseases [RCV002372543]	likely benign	5	36975855	36975855	Human	2	name
15116144	CV765110	single nucleotide variant	NM_133433.4(NIPBL):c.585C>T (p.Tyr195=)	Cornelia de Lange syndrome 1 [RCV003497909]	likely benign	5	36962249	36962249	Human	1	name
21067092	CV790554	deletion	NM_133433.4(NIPBL):c.226del (p.His76fs)	Cornelia de Lange syndrome 1 [RCV000987509]	pathogenic	5	36955633	36955633	Human	1	name
26890633	CV830848	deletion	NM_133433.4(NIPBL):c.241del (p.Asp81fs)	Cornelia de Lange syndrome 1 [RCV001067929]	pathogenic	5	36958114	36958114	Human	1	name
28888985	CV894204	single nucleotide variant	NM_133433.4(NIPBL):c.873A>C (p.Ser291=)	Cornelia de Lange syndrome 1 [RCV001151936]	uncertain significance	5	36975780	36975780	Human	1	name
126760529	CV1006129	single nucleotide variant	NM_133433.4(NIPBL):c.1224A>G (p.Gln408=)	Cornelia de Lange syndrome 1 [RCV001318366]	likely benign\|uncertain significance	5	36976131	36976131	Human	1	name
8643246	CV102229	single nucleotide variant	NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)	Cornelia de Lange syndrome 1 [RCV000541253]\|Inborn genetic diseases [RCV002311734]\|not provided [RCV004715661]\|not specified [RCV000082484]	benign\|likely benign	5	36985649	36985649	Human	2	name
8646391	CV105808	single nucleotide variant	NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)	Cornelia de Lange syndrome 1 [RCV000086365]\|not provided [RCV000959648]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36976119	36976119	Human	1	name
8646392	CV105809	single nucleotide variant	NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)	Cornelia de Lange syndrome 1 [RCV000086366]\|NIPBL-related disorder [RCV003935082]\|not provided [RCV000724758]	pathogenic	5	36955540	36955540	Human	2	name , alternate_id
127254055	CV1072765	single nucleotide variant	NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)	Cornelia de Lange syndrome 1 [RCV001418483]\|not provided [RCV001531417]	likely benign	5	36985883	36985883	Human	1	name
127323571	CV1136877	single nucleotide variant	NM_133433.4(NIPBL):c.2877G>A (p.Pro959=)	Cornelia de Lange syndrome 1 [RCV001485276]	likely benign	5	36986057	36986057	Human	1	name
150416471	CV1180007	insertion	NM_133433.4(NIPBL):c.231-339_231-338insA	not provided [RCV001549655]	likely benign	5	36957765	36957766	Human		name
150546058	CV1291734	single nucleotide variant	NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser)	Cornelia de Lange syndrome 1 [RCV002488497]\|not provided [RCV001732844]	uncertain significance	5	36955616	36955616	Human	1	name
152149191	CV1569249	single nucleotide variant	NM_133433.4(NIPBL):c.1383A>G (p.Gln461=)	Cornelia de Lange syndrome 1 [RCV002220528]	likely benign	5	36976290	36976290	Human	1	name
152142234	CV1586555	single nucleotide variant	NM_133433.4(NIPBL):c.1278A>T (p.Thr426=)	Cornelia de Lange syndrome 1 [RCV002178208]	likely benign	5	36976185	36976185	Human	1	name
152161951	CV1608704	single nucleotide variant	NM_133433.4(NIPBL):c.2616T>C (p.His872=)	Cornelia de Lange syndrome 1 [RCV002103967]	likely benign	5	36985796	36985796	Human	1	name
152103015	CV1667365	single nucleotide variant	NM_133433.4(NIPBL):c.200A>G (p.His67Arg)	Cornelia de Lange syndrome 1 [RCV005032189]\|not provided [RCV002214352]	uncertain significance	5	36955607	36955607	Human	1	name
9682942	CV168305	single nucleotide variant	NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)	Cornelia de Lange syndrome 1 [RCV000146520]	pathogenic	5	36955552	36955552	Human	1	name
9682952	CV168307	single nucleotide variant	NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)	Cornelia de Lange syndrome 1 [RCV000146534]	likely pathogenic	5	36955613	36955613	Human	1	name
9683027	CV168314	deletion	NM_133433.4(NIPBL):c.456del (p.Ser153fs)	Cornelia de Lange syndrome 1 [RCV000146613]	pathogenic	5	36961580	36961580	Human	1	name
9683159	CV168327	deletion	NM_133433.4(NIPBL):c.892del (p.Gln298fs)	Cornelia de Lange syndrome 1 [RCV000146749]	pathogenic	5	36975799	36975799	Human	1	name
9682933	CV168332	single nucleotide variant	NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)	Cornelia de Lange syndrome 1 [RCV001151937]\|Inborn genetic diseases [RCV002312963]\|not provided [RCV000954535]\|not specified [RCV000146511]	benign\|likely benign	5	36975963	36975963	Human	2	name
9682956	CV168352	single nucleotide variant	NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)	Cornelia de Lange syndrome 1 [RCV000146538]\|Inborn genetic diseases [RCV002444602]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36985436	36985436	Human	2	name
9682959	CV168355	single nucleotide variant	NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)	not specified [RCV000146541]	benign	5	36985505	36985505	Human		name
9682962	CV168358	single nucleotide variant	NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)	Cornelia de Lange syndrome 1 [RCV002055906]\|NIPBL-related disorder [RCV004739468]\|not specified [RCV000146545]	benign\|likely benign	5	36985631	36985631	Human	2	name , alternate_id
9682967	CV168363	single nucleotide variant	NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)	Cornelia de Lange syndrome 1 [RCV000146551]	uncertain significance	5	36985685	36985685	Human	1	name
9682968	CV168364	single nucleotide variant	NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)	Cornelia de Lange syndrome 1 [RCV001157506]\|Inborn genetic diseases [RCV002312645]\|not specified [RCV000146554]	likely benign	5	36985853	36985853	Human	2	name
9682970	CV168366	single nucleotide variant	NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)	Cornelia de Lange syndrome 1 [RCV003497835]\|not specified [RCV000146556]	benign\|likely benign	5	36985952	36985952	Human	1	name
9682975	CV168371	single nucleotide variant	NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)	Cornelia de Lange syndrome 1 [RCV001157508]\|Inborn genetic diseases [RCV002433631]\|not provided [RCV001711307]\|not specified [RCV000146561]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36986111	36986111	Human	2	name
155745338	CV1834344	single nucleotide variant	NM_133433.4(NIPBL):c.1701T>G (p.Pro567=)	Inborn genetic diseases [RCV002414703]	likely benign	5	36984881	36984881	Human	1	name
155700189	CV1836693	single nucleotide variant	NM_133433.4(NIPBL):c.1449A>G (p.Glu483=)	Inborn genetic diseases [RCV002394506]	likely benign	5	36976356	36976356	Human	1	name
155722694	CV1841995	single nucleotide variant	NM_133433.4(NIPBL):c.2511G>A (p.Gln837=)	Inborn genetic diseases [RCV002432940]	likely benign	5	36985691	36985691	Human	1	name
155711917	CV1845362	single nucleotide variant	NM_133433.4(NIPBL):c.2481G>A (p.Arg827=)	Inborn genetic diseases [RCV002430797]	likely benign	5	36985661	36985661	Human	1	name
155797477	CV1860377	single nucleotide variant	NM_133433.4(NIPBL):c.215T>C (p.Val72Ala)	not provided [RCV002467019]	uncertain significance	5	36955622	36955622	Human		name
156408381	CV1869997	single nucleotide variant	NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)	Cornelia de Lange syndrome 1 [RCV003071245]	likely benign	5	36985934	36985934	Human	1	name
156317390	CV1879703	single nucleotide variant	NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)	Cornelia de Lange syndrome 1 [RCV003062837]	likely benign	5	36976185	36976185	Human	1	name
156113798	CV1880794	single nucleotide variant	NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)	Cornelia de Lange syndrome 1 [RCV003081155]	likely benign	5	36985238	36985238	Human	1	name
156410839	CV1882790	single nucleotide variant	NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)	Cornelia de Lange syndrome 1 [RCV003072226]	likely benign	5	36985511	36985511	Human	1	name
156412636	CV1886804	single nucleotide variant	NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)	Cornelia de Lange syndrome 1 [RCV003072975]	uncertain significance	5	36958123	36958123	Human	1	name
156043606	CV1887307	single nucleotide variant	NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)	Cornelia de Lange syndrome 1 [RCV003078615]	likely benign	5	36985490	36985490	Human	1	name
156272585	CV1915428	single nucleotide variant	NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)	Cornelia de Lange syndrome 1 [RCV002628152]	uncertain significance	5	36984806	36984806	Human	1	name
156034304	CV1932591	single nucleotide variant	NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)	Cornelia de Lange syndrome 1 [RCV002637302]	likely benign	5	36984977	36984977	Human	1	name
156438546	CV1947157	single nucleotide variant	NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)	Cornelia de Lange syndrome 1 [RCV003108490]	likely benign	5	36985931	36985931	Human	1	name
156155910	CV1957730	single nucleotide variant	NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)	Cornelia de Lange syndrome 1 [RCV002573055]	likely benign	5	36984764	36984764	Human	1	name
10053494	CV196341	single nucleotide variant	NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)	Cornelia de Lange syndrome 1 [RCV001153202]\|not provided [RCV000724488]\|not specified [RCV000180699]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36976299	36976299	Human	1	name
156070358	CV1971781	single nucleotide variant	NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)	Cornelia de Lange syndrome 1 [RCV002591254]	likely benign	5	36986081	36986081	Human	1	name
156355922	CV1975130	single nucleotide variant	NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)	Cornelia de Lange syndrome 1 [RCV002602162]	uncertain significance	5	36955541	36955541	Human	1	name
156358158	CV2020253	single nucleotide variant	NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)	Cornelia de Lange syndrome 1 [RCV002720677]	likely benign	5	36985652	36985652	Human	1	name
10406484	CV207216	duplication	NM_133433.4(NIPBL):c.314dup (p.Asn105fs)	Cornelia de Lange syndrome 1 [RCV000192791]	pathogenic	5	36958185	36958186	Human	1	name
10403853	CV207219	single nucleotide variant	NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)	Cornelia de Lange syndrome 1 [RCV005089983]\|not specified [RCV000193559]	likely benign	5	36976071	36976071	Human	1	name
155997945	CV2074437	single nucleotide variant	NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)	Cornelia de Lange syndrome 1 [RCV002843271]	uncertain significance	5	36955617	36955617	Human	1	name
156314585	CV2089637	single nucleotide variant	NM_133433.4(NIPBL):c.2871C>T (p.Val957=)	Cornelia de Lange syndrome 1 [RCV002898912]	likely benign	5	36986051	36986051	Human	1	name
156008250	CV2099878	single nucleotide variant	NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)	Cornelia de Lange syndrome 1 [RCV002908961]	uncertain significance	5	36958168	36958168	Human	1	name
156289462	CV2115149	single nucleotide variant	NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)	Cornelia de Lange syndrome 1 [RCV002922090]	uncertain significance	5	36955576	36955576	Human	1	name
156030214	CV2125443	single nucleotide variant	NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)	Cornelia de Lange syndrome 1 [RCV002949194]\|NIPBL-related disorder [RCV003906385]	likely benign	5	36985100	36985100	Human	2	name , alternate_id
155960692	CV2183449	single nucleotide variant	NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)	Cornelia de Lange syndrome 1 [RCV003032922]	likely benign\|uncertain significance	5	36984740	36984740	Human	1	name
155977582	CV2246873	single nucleotide variant	NM_133433.4(NIPBL):c.256G>A (p.Asp86Asn)	Inborn genetic diseases [RCV002777412]	likely benign	5	36958129	36958129	Human	1	name
155958321	CV2282181	single nucleotide variant	NM_133433.4(NIPBL):c.184G>C (p.Val62Leu)	Cornelia de Lange syndrome 1 [RCV005036566]\|Inborn genetic diseases [RCV002841068]	uncertain significance	5	36955591	36955591	Human	2	name
243054935	CV2408296	single nucleotide variant	NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)	Cornelia de Lange syndrome 1 [RCV003131805]	uncertain significance	5	36955601	36955601	Human	1	name
243057320	CV2408298	single nucleotide variant	NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)	Cornelia de Lange syndrome 1 [RCV003133027]	conflicting interpretations of pathogenicity\|uncertain significance	5	36976341	36976341	Human	1	name
329355303	CV2476360	duplication	NM_133433.4(NIPBL):c.551dup (p.Gly185fs)	Cornelia de Lange syndrome 1 [RCV003222592]	likely pathogenic	5	36962214	36962215	Human	1	name
11641214	CV265989	single nucleotide variant	NM_133433.4(NIPBL):c.1221A>G (p.Pro407=)	not provided [RCV000352940]	uncertain significance	5	36976128	36976128	Human		name
11643471	CV267815	single nucleotide variant	NM_133433.4(NIPBL):c.1077A>G (p.Thr359=)	Cornelia de Lange syndrome 1 [RCV005090349]\|not provided [RCV000394552]\|not specified [RCV005418043]	likely benign\|uncertain significance	5	36975984	36975984	Human	1	name
11643861	CV269734	single nucleotide variant	NM_133433.4(NIPBL):c.1017T>C (p.Ser339=)	not provided [RCV000401973]	uncertain significance	5	36975924	36975924	Human		name
11639448	CV271645	single nucleotide variant	NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)	Cornelia de Lange syndrome 1 [RCV001807211]\|Inborn genetic diseases [RCV002450822]\|NIPBL-related disorder [RCV003940035]\|not provided [RCV000878689]\|not specified [RCV000321066]	benign\|likely benign	5	36985907	36985907	Human	3	name , alternate_id
11633688	CV271646	deletion	NM_133433.4(NIPBL):c.592del (p.His198fs)	not provided [RCV000359503]	pathogenic	5	36962256	36962256	Human		name
11638322	CV272304	single nucleotide variant	NM_133433.4(NIPBL):c.2439A>C (p.Ser813=)	not provided [RCV000301370]	uncertain significance	5	36985619	36985619	Human		name
401796099	CV2740325	deletion	NM_133433.4(NIPBL):c.385del (p.Ser129fs)	not provided [RCV003321002]	pathogenic	5	36961508	36961508	Human		name
401936419	CV2803475	single nucleotide variant	NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys)	Inborn genetic diseases [RCV004961279]\|NIPBL-related disorder [RCV003414427]	uncertain significance	5	36958138	36958138	Human	2	name , alternate_id
401912639	CV2827716	single nucleotide variant	NM_133433.4(NIPBL):c.1332T>C (p.Ala444=)	not provided [RCV003427449]	uncertain significance	5	36976239	36976239	Human		name
405109231	CV2866916	deletion	NM_133433.4(NIPBL):c.533del (p.Tyr178fs)	Cornelia de Lange syndrome 1 [RCV003498896]	pathogenic	5	36962197	36962197	Human	1	name
405104686	CV2915390	single nucleotide variant	NM_133433.4(NIPBL):c.1893G>A (p.Val631=)	Cornelia de Lange syndrome 1 [RCV003497821]\|not specified [RCV004690441]	likely benign	5	36985073	36985073	Human	1	name
405107640	CV2918177	single nucleotide variant	NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)	Cornelia de Lange syndrome 1 [RCV003498609]	likely benign	5	36985862	36985862	Human	1	name
405108051	CV2922283	single nucleotide variant	NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)	Cornelia de Lange syndrome 1 [RCV003498717]	likely benign	5	36985694	36985694	Human	1	name
404988262	CV2969190	single nucleotide variant	NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)	Cornelia de Lange syndrome 1 [RCV003604203]	uncertain significance	5	36955601	36955601	Human	1	name
11586001	CV297425	single nucleotide variant	NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)	Cornelia de Lange syndrome 1 [RCV000284905]\|Inborn genetic diseases [RCV002317850]\|not provided [RCV003430910]	benign\|likely benign	5	36955586	36955586	Human	2	name
404989558	CV2978548	single nucleotide variant	NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)	Cornelia de Lange syndrome 1 [RCV003604344]	likely benign	5	36976332	36976332	Human	1	name
404988917	CV2987460	single nucleotide variant	NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)	Cornelia de Lange syndrome 1 [RCV003604277]	likely benign	5	36976161	36976161	Human	1	name
404995612	CV3006974	single nucleotide variant	NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)	Cornelia de Lange syndrome 1 [RCV003604970]\|NIPBL-related disorder [RCV003939143]	likely benign	5	36975933	36975933	Human	2	name , alternate_id
404994940	CV3007018	single nucleotide variant	NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)	Cornelia de Lange syndrome 1 [RCV003604971]	likely benign	5	36985385	36985385	Human	1	name
405041150	CV3029503	single nucleotide variant	NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)	Cornelia de Lange syndrome 1 [RCV003602554]	uncertain significance	5	36955570	36955570	Human	1	name
405040927	CV3031087	single nucleotide variant	NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)	Cornelia de Lange syndrome 1 [RCV003602654]	likely benign\|conflicting interpretations of pathogenicity	5	36985889	36985889	Human	1	name
11596435	CV303963	single nucleotide variant	NM_133433.4(NIPBL):c.2856G>A (p.Ala952=)	Cornelia de Lange syndrome 1 [RCV000382430]	likely benign\|uncertain significance	5	36986036	36986036	Human	1	name
405042531	CV3042667	single nucleotide variant	NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)	Cornelia de Lange syndrome 1 [RCV003602795]	likely benign	5	36985367	36985367	Human	1	name
405046263	CV3049014	single nucleotide variant	NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)	Cornelia de Lange syndrome 1 [RCV003603026]	likely benign	5	36984866	36984866	Human	1	name
404984951	CV3066461	single nucleotide variant	NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)	Cornelia de Lange syndrome 1 [RCV003603824]\|NIPBL-related disorder [RCV003966654]	likely benign	5	36985823	36985823	Human	2	name , alternate_id
404990988	CV3074549	single nucleotide variant	NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)	Cornelia de Lange syndrome 1 [RCV003604520]	uncertain significance	5	36955600	36955600	Human	1	name
404985969	CV3079518	single nucleotide variant	NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)	Cornelia de Lange syndrome 1 [RCV003603967]	likely benign	5	36985205	36985205	Human	1	name
405180480	CV3159417	single nucleotide variant	NM_133433.4(NIPBL):c.1302G>T (p.Val434=)	Cornelia de Lange syndrome 1 [RCV003858667]	likely benign	5	36976209	36976209	Human	1	name
402519967	CV3179418	single nucleotide variant	NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)	Cornelia de Lange syndrome 1 [RCV003879669]	uncertain significance	5	36955510	36955510	Human	1	name
405279069	CV3217346	single nucleotide variant	NM_133433.4(NIPBL):c.2424A>G (p.Arg808=)	NIPBL-related disorder [RCV003976781]	likely benign	5	36985604	36985604	Human		name , trait , alternate_id
405283230	CV3218534	single nucleotide variant	NM_133433.4(NIPBL):c.1413G>A (p.Leu471=)	NIPBL-related disorder [RCV003957321]	likely benign	5	36976320	36976320	Human		name , trait , alternate_id
408371391	CV3515902	single nucleotide variant	NM_133433.4(NIPBL):c.1371A>G (p.Gln457=)	NIPBL-related disorder [RCV004740813]	likely benign	5	36976278	36976278	Human		name , trait , alternate_id
408392742	CV3528266	single nucleotide variant	NM_133433.4(NIPBL):c.211C>A (p.Gln71Lys)	not provided [RCV004776034]	uncertain significance	5	36955618	36955618	Human		name
12846350	CV368644	single nucleotide variant	NM_133433.4(NIPBL):c.1302G>C (p.Val434=)	Cornelia de Lange syndrome 1 [RCV003497847]\|not specified [RCV000441471]	likely benign	5	36976209	36976209	Human	1	name
597719703	CV3721890	single nucleotide variant	NM_133433.4(NIPBL):c.128A>G (p.Asn43Ser)	Cornelia de Lange syndrome 1 [RCV005035620]	uncertain significance	5	36955535	36955535	Human	1	name
597719722	CV3721891	single nucleotide variant	NM_133433.4(NIPBL):c.149T>G (p.Val50Gly)	Cornelia de Lange syndrome 1 [RCV005035622]	uncertain significance	5	36955556	36955556	Human	1	name
597719731	CV3721892	single nucleotide variant	NM_133433.4(NIPBL):c.164C>T (p.Ala55Val)	Cornelia de Lange syndrome 1 [RCV005035623]	uncertain significance	5	36955571	36955571	Human	1	name
597665426	CV3721893	single nucleotide variant	NM_133433.4(NIPBL):c.166T>C (p.Cys56Arg)	Cornelia de Lange syndrome 1 [RCV005043285]	uncertain significance	5	36955573	36955573	Human	1	name
597719916	CV3721921	single nucleotide variant	NM_133433.4(NIPBL):c.1857A>G (p.Arg619=)	Cornelia de Lange syndrome 1 [RCV005035641]	uncertain significance	5	36985037	36985037	Human	1	name
597967186	CV3751771	single nucleotide variant	NM_133433.4(NIPBL):c.1806A>G (p.Lys602=)	Cornelia de Lange syndrome 1 [RCV005083141]	likely benign	5	36984986	36984986	Human	1	name
597939590	CV3760541	single nucleotide variant	NM_133433.4(NIPBL):c.2004A>C (p.Ile668=)	Cornelia de Lange syndrome 1 [RCV005077268]	likely benign	5	36985184	36985184	Human	1	name
597967484	CV3760650	single nucleotide variant	NM_133433.4(NIPBL):c.2148A>G (p.Gln716=)	Cornelia de Lange syndrome 1 [RCV005083217]	likely benign	5	36985328	36985328	Human	1	name
597936133	CV3807156	single nucleotide variant	NM_133433.4(NIPBL):c.2013T>G (p.Pro671=)	Cornelia de Lange syndrome 1 [RCV005157727]	likely benign	5	36985193	36985193	Human	1	name
597917873	CV3811233	single nucleotide variant	NM_133433.4(NIPBL):c.1590T>C (p.Ser530=)	Cornelia de Lange syndrome 1 [RCV005155268]	likely benign	5	36984770	36984770	Human	1	name
597952627	CV3815406	single nucleotide variant	NM_133433.4(NIPBL):c.2160G>A (p.Gly720=)	Cornelia de Lange syndrome 1 [RCV005161356]	likely benign	5	36985340	36985340	Human	1	name
597920569	CV3842758	single nucleotide variant	NM_133433.4(NIPBL):c.2946G>A (p.Pro982=)	Cornelia de Lange syndrome 1 [RCV005184243]	likely benign	5	36986126	36986126	Human	1	name
597958211	CV3848978	single nucleotide variant	NM_133433.4(NIPBL):c.2739A>G (p.Pro913=)	Cornelia de Lange syndrome 1 [RCV005191979]	likely benign	5	36985919	36985919	Human	1	name
597871281	CV3849298	single nucleotide variant	NM_133433.4(NIPBL):c.1827A>C (p.Ser609=)	Cornelia de Lange syndrome 1 [RCV005197479]	likely benign	5	36985007	36985007	Human	1	name
597930013	CV3862181	single nucleotide variant	NM_133433.4(NIPBL):c.2655A>G (p.Glu885=)	Cornelia de Lange syndrome 1 [RCV005206422]	likely benign	5	36985835	36985835	Human	1	name
598238993	CV3994539	single nucleotide variant	NM_133433.4(NIPBL):c.217T>G (p.Ser73Ala)	Inborn genetic diseases [RCV005382843]	uncertain significance	5	36955624	36955624	Human	1	name
13829526	CV579154	single nucleotide variant	NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)	Cornelia de Lange syndrome 1 [RCV003603070]\|Inborn genetic diseases [RCV002315378]\|NIPBL-related disorder [RCV003983178]\|not provided [RCV001531416]	benign\|likely benign	5	36985529	36985529	Human	3	name , alternate_id
15178065	CV699078	single nucleotide variant	NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)	Cornelia de Lange syndrome 1 [RCV000951185]	likely benign\|conflicting interpretations of pathogenicity	5	36985628	36985628	Human	1	name
15169110	CV709904	single nucleotide variant	NM_133433.4(NIPBL):c.1905A>G (p.Ser635=)	not provided [RCV000971747]	likely benign	5	36985085	36985085	Human		name
15195155	CV721445	single nucleotide variant	NM_133433.4(NIPBL):c.1263G>A (p.Ser421=)	Cornelia de Lange syndrome 1 [RCV003497888]	likely benign	5	36976170	36976170	Human	1	name
15140632	CV735089	single nucleotide variant	NM_133433.4(NIPBL):c.2910T>C (p.Thr970=)	NIPBL-related disorder [RCV003895486]\|not provided [RCV000899352]	likely benign	5	36986090	36986090	Human	1	name , alternate_id
15097811	CV749487	single nucleotide variant	NM_133433.4(NIPBL):c.1629T>C (p.Ile543=)	Cornelia de Lange syndrome 1 [RCV005092720]	likely benign	5	36984809	36984809	Human	1	name
15123685	CV749488	single nucleotide variant	NM_133433.4(NIPBL):c.2802C>T (p.His934=)	not provided [RCV000918863]	likely benign	5	36985982	36985982	Human		name
15103843	CV749489	single nucleotide variant	NM_133433.4(NIPBL):c.2868T>C (p.Phe956=)	not provided [RCV000915242]	likely benign	5	36986048	36986048	Human		name
15179800	CV765111	single nucleotide variant	NM_133433.4(NIPBL):c.2602C>A (p.Arg868=)	not provided [RCV000929729]	likely benign	5	36985782	36985782	Human		name
15134479	CV782285	single nucleotide variant	NM_133433.4(NIPBL):c.2352A>G (p.Gln784=)	Cornelia de Lange syndrome 1 [RCV000981749]\|not provided [RCV003432985]	likely benign	5	36985532	36985532	Human	1	name
21069077	CV795699	single nucleotide variant	NM_133433.4(NIPBL):c.1677G>A (p.Gln559=)	not provided [RCV000998372]	uncertain significance	5	36984857	36984857	Human		name
26902737	CV857672	single nucleotide variant	NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)	Cornelia de Lange syndrome 1 [RCV001089569]	pathogenic\|likely pathogenic	5	36955595	36955595	Human	1	name
28892522	CV894207	single nucleotide variant	NM_133433.4(NIPBL):c.1593G>A (p.Thr531=)	Cornelia de Lange syndrome 1 [RCV001153203]	uncertain significance	5	36984773	36984773	Human	1	name
28892526	CV894208	single nucleotide variant	NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)	Cornelia de Lange syndrome 1 [RCV001153204]\|Inborn genetic diseases [RCV002418596]	likely benign	5	36985172	36985172	Human	2	name
38466379	CV918955	single nucleotide variant	NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)	Cornelia de Lange syndrome 1 [RCV001195989]	pathogenic	5	36955568	36955568	Human	1	name
126730641	CV1026626	single nucleotide variant	NM_133433.4(NIPBL):c.617T>A (p.Val206Glu)	Cornelia de Lange syndrome 1 [RCV001349299]	uncertain significance	5	36970882	36970882	Human	1	name
127266949	CV1060396	deletion	NM_133433.4(NIPBL):c.1942del (p.Thr648fs)	Cornelia de Lange syndrome 1 [RCV001388847]	pathogenic	5	36985120	36985120	Human	1	name
127271449	CV1060397	deletion	NM_133433.4(NIPBL):c.2207del (p.Pro736fs)	Cornelia de Lange syndrome 1 [RCV001390162]	pathogenic	5	36985386	36985386	Human	1	name
127265712	CV1060398	duplication	NM_133433.4(NIPBL):c.2837dup (p.Leu946fs)	Cornelia de Lange syndrome 1 [RCV001388525]	pathogenic	5	36986015	36986016	Human	1	name
127302041	CV1115889	single nucleotide variant	NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=)	Cornelia de Lange syndrome 1 [RCV001454352]	likely benign	5	37038627	37038627	Human	1	name
150412917	CV1190361	single nucleotide variant	NM_133433.4(NIPBL):c.4284T>C (p.Ser1428=)	not provided [RCV001567051]	uncertain significance	5	37008052	37008052	Human		name
150412101	CV1195992	single nucleotide variant	NM_133433.4(NIPBL):c.507G>T (p.Gln169His)	not provided [RCV001573965]	uncertain significance	5	36962171	36962171	Human		name
150463029	CV1206672	deletion	NM_133433.4(NIPBL):c.6343+276_6343+284del	not provided [RCV001587073]	likely benign	5	37045002	37045010	Human		name
150455346	CV1214288	duplication	NM_133433.4(NIPBL):c.1808dup (p.Ser604fs)	NIPBL-related disorder [RCV003399411]\|not provided [RCV001596858]	likely pathogenic	5	36984980	36984981	Human	1	name , alternate_id
150529294	CV1288851	single nucleotide variant	NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala)	not provided [RCV001727319]	uncertain significance	5	36961484	36961484	Human		name
150554393	CV1295826	single nucleotide variant	NM_133433.4(NIPBL):c.4170T>A (p.Val1390=)	not provided [RCV001771057]	uncertain significance	5	37007405	37007405	Human		name
150550690	CV1305084	single nucleotide variant	NM_133433.4(NIPBL):c.527G>C (p.Ser176Thr)	not provided [RCV001765864]	uncertain significance	5	36962191	36962191	Human		name
150550765	CV1305134	single nucleotide variant	NM_133433.4(NIPBL):c.606A>T (p.Gln202His)	not provided [RCV001765914]	likely benign\|uncertain significance	5	36962270	36962270	Human		name
151353822	CV1327374	single nucleotide variant	NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=)	not specified [RCV001817318]	uncertain significance	5	37002744	37002744	Human		name
151663531	CV1334014	single nucleotide variant	NM_133433.4(NIPBL):c.5115T>C (p.His1705=)	Cornelia de Lange syndrome 1 [RCV001839188]	uncertain significance	5	37020563	37020563	Human	1	name
151832716	CV1338979	single nucleotide variant	NM_133433.4(NIPBL):c.334A>C (p.Met112Leu)	Cornelia de Lange syndrome 1 [RCV002014462]	uncertain significance	5	36958207	36958207	Human	1	name
151857417	CV1347378	single nucleotide variant	NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys)	Cornelia de Lange syndrome 1 [RCV002033945]	uncertain significance	5	36962158	36962158	Human	1	name
151823039	CV1412058	single nucleotide variant	NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter)	Cornelia de Lange syndrome 1 [RCV001901074]	pathogenic	5	36961498	36961498	Human	1	name
151738234	CV1432479	single nucleotide variant	NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr)	Cornelia de Lange syndrome 1 [RCV002022058]	uncertain significance	5	36962274	36962274	Human	1	name
151814553	CV1491325	duplication	NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)	Cornelia de Lange syndrome 1 [RCV001975107]	pathogenic	5	36984686	36984687	Human	1	name
151814560	CV1491326	deletion	NM_133433.4(NIPBL):c.1672del (p.Thr558fs)	Cornelia de Lange syndrome 1 [RCV001975108]	pathogenic	5	36984851	36984851	Human	1	name
151815046	CV1507517	single nucleotide variant	NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=)	Cornelia de Lange syndrome 1 [RCV001954200]	likely benign	5	37020844	37020844	Human	1	name
152051734	CV1569343	single nucleotide variant	NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=)	Cornelia de Lange syndrome 1 [RCV002207607]	likely benign	5	37022125	37022125	Human	1	name
152084867	CV1577121	single nucleotide variant	NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=)	Cornelia de Lange syndrome 1 [RCV002193500]	likely benign	5	37038702	37038702	Human	1	name
152103008	CV1667364	deletion	NM_133433.4(NIPBL):c.-79-1563_-79-1534del	not provided [RCV002214351]	benign\|likely benign	5	36952045	36952074	Human		name
153000258	CV1682935	single nucleotide variant	NM_133433.4(NIPBL):c.6588A>G (p.Leu2196=)	See cases [RCV002252945]	likely benign	5	37046198	37046198	Human		name
152999896	CV1683441	single nucleotide variant	NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=)	Cornelia de Lange syndrome 1 [RCV005095863]\|See cases [RCV002252625]	likely benign\|uncertain significance	5	37051799	37051799	Human	1	name
153349015	CV1693182	single nucleotide variant	NM_133433.4(NIPBL):c.656A>G (p.His219Arg)	not provided [RCV002275398]	uncertain significance	5	36970921	36970921	Human		name
155268033	CV1701533	single nucleotide variant	NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)	Cornelia de Lange syndrome 1 [RCV002283759]	uncertain significance	5	37022149	37022149	Human	1	name
155268289	CV1705321	single nucleotide variant	NM_133433.4(NIPBL):c.731G>A (p.Ser244Asn)	not provided [RCV002285926]	uncertain significance	5	36970996	36970996	Human		name
155644562	CV1710279	single nucleotide variant	NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=)	Cornelia de Lange syndrome 1 [RCV002293391]	pathogenic	5	37049166	37049166	Human	1	name
155733226	CV1781077	single nucleotide variant	NM_133433.4(NIPBL):c.878C>T (p.Pro293Leu)	not provided [RCV002308865]	uncertain significance	5	36975785	36975785	Human		name
155694323	CV1787218	single nucleotide variant	NM_133433.4(NIPBL):c.3906G>A (p.Glu1302=)	Inborn genetic diseases [RCV002357485]	likely benign	5	37006407	37006407	Human	1	name
155682156	CV1795701	single nucleotide variant	NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)	Cornelia de Lange syndrome 1 [RCV003603122]\|Inborn genetic diseases [RCV002456997]	likely benign	5	37000497	37000497	Human	2	name
155697633	CV1800992	single nucleotide variant	NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu)	Cornelia de Lange syndrome 1 [RCV005032248]\|Inborn genetic diseases [RCV002358250]	uncertain significance	5	36962268	36962268	Human	2	name
155735171	CV1809829	single nucleotide variant	NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)	Cornelia de Lange syndrome 1 [RCV003096668]\|Inborn genetic diseases [RCV002340938]	uncertain significance	5	36962188	36962188	Human	2	name
155679180	CV1810776	single nucleotide variant	NM_133433.4(NIPBL):c.5814A>G (p.Ala1938=)	Cornelia de Lange syndrome 1 [RCV005096846]\|Inborn genetic diseases [RCV002353124]	likely benign	5	37027364	37027364	Human	2	name
155742878	CV1814093	single nucleotide variant	NM_133433.4(NIPBL):c.8340T>C (p.Ser2780=)	Inborn genetic diseases [RCV002412584]	likely benign	5	37064817	37064817	Human	1	name
155714315	CV1815253	single nucleotide variant	NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)	Cornelia de Lange syndrome 1 [RCV003098401]\|Inborn genetic diseases [RCV002362091]	likely benign\|uncertain significance	5	37049193	37049193	Human	2	name
155670920	CV1815537	single nucleotide variant	NM_133433.4(NIPBL):c.713A>G (p.Asn238Ser)	Inborn genetic diseases [RCV002367484]	uncertain significance	5	36970978	36970978	Human	1	name
155722148	CV1817468	single nucleotide variant	NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)	Cornelia de Lange syndrome 1 [RCV005032257]\|Inborn genetic diseases [RCV002449712]	uncertain significance	5	36975776	36975776	Human	2	name
155677262	CV1818838	single nucleotide variant	NM_133433.4(NIPBL):c.6807T>C (p.Asp2269=)	Inborn genetic diseases [RCV002369516]	likely benign	5	37049154	37049154	Human	1	name
155737570	CV1819991	single nucleotide variant	NM_133433.4(NIPBL):c.7776A>G (p.Gln2592=)	Inborn genetic diseases [RCV002409782]	likely benign	5	37060934	37060934	Human	1	name
155668296	CV1820197	single nucleotide variant	NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)	Cornelia de Lange syndrome 1 [RCV003603127]\|Inborn genetic diseases [RCV002419546]	likely benign	5	37064595	37064595	Human	2	name
155717992	CV1823085	single nucleotide variant	NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=)	Cornelia de Lange syndrome 1 [RCV005032253]\|Inborn genetic diseases [RCV002380365]	likely benign\|uncertain significance	5	37057293	37057293	Human	2	name
155698563	CV1855089	single nucleotide variant	NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)	Cornelia de Lange syndrome 1 [RCV003130717]\|Inborn genetic diseases [RCV002444328]	uncertain significance	5	36958179	36958179	Human	2	name
156113086	CV1871151	single nucleotide variant	NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)	Cornelia de Lange syndrome 1 [RCV003081130]	likely benign	5	37063801	37063801	Human	1	name
156409577	CV1881348	single nucleotide variant	NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)	Cornelia de Lange syndrome 1 [RCV003071727]	likely benign	5	37064793	37064793	Human	1	name
156293050	CV1883861	single nucleotide variant	NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)	Cornelia de Lange syndrome 1 [RCV003087566]	likely benign	5	37048509	37048509	Human	1	name
156310126	CV1895288	single nucleotide variant	NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)	Cornelia de Lange syndrome 1 [RCV003088393]	likely benign	5	37038681	37038681	Human	1	name
156089568	CV1895435	single nucleotide variant	NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)	Cornelia de Lange syndrome 1 [RCV003080159]	likely benign	5	37049172	37049172	Human	1	name
156183882	CV1898322	single nucleotide variant	NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)	Cornelia de Lange syndrome 1 [RCV002595151]	uncertain significance	5	36970932	36970932	Human	1	name
156413988	CV1901972	single nucleotide variant	NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)	Cornelia de Lange syndrome 1 [RCV003073529]	uncertain significance	5	36972009	36972009	Human	1	name
155956691	CV1907397	single nucleotide variant	NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)	Cornelia de Lange syndrome 1 [RCV003095624]	uncertain significance	5	36975845	36975845	Human	1	name
155941640	CV1910211	single nucleotide variant	NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)	Cornelia de Lange syndrome 1 [RCV002615675]	likely benign	5	37049271	37049271	Human	1	name
156407188	CV1918021	single nucleotide variant	NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)	Cornelia de Lange syndrome 1 [RCV002606821]	likely benign	5	37017072	37017072	Human	1	name
10050531	CV192068	single nucleotide variant	NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=)	Cornelia de Lange syndrome 1 [RCV002517686]\|not provided [RCV000175380]	likely benign\|uncertain significance	5	37007396	37007396	Human	1	name
155950178	CV1921896	single nucleotide variant	NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)	Cornelia de Lange syndrome 1 [RCV002616180]	likely benign	5	37026321	37026321	Human	1	name
156408933	CV1922117	single nucleotide variant	NM_133433.4(NIPBL):c.5118T>C (p.His1706=)	Cornelia de Lange syndrome 1 [RCV002607401]	likely benign	5	37020566	37020566	Human	1	name
155961502	CV1922509	single nucleotide variant	NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)	Cornelia de Lange syndrome 1 [RCV002616754]	uncertain significance	5	36971997	36971997	Human	1	name
156419161	CV1926153	single nucleotide variant	NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)	Cornelia de Lange syndrome 1 [RCV002612380]\|NIPBL-related disorder [RCV003936611]	likely benign	5	37052458	37052458	Human	2	name , alternate_id
156295476	CV1926743	single nucleotide variant	NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)	Cornelia de Lange syndrome 1 [RCV002628995]\|Inborn genetic diseases [RCV004961143]	likely benign\|uncertain significance	5	36975878	36975878	Human	2	name
10051117	CV192944	single nucleotide variant	NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=)	Cornelia de Lange syndrome 1 [RCV002516706]\|not provided [RCV000176432]	likely benign\|uncertain significance	5	37016077	37016077	Human	1	name
156304769	CV1933721	single nucleotide variant	NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)	Cornelia de Lange syndrome 1 [RCV002629431]	likely benign	5	37060946	37060946	Human	1	name
156437171	CV1936998	single nucleotide variant	NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)	Cornelia de Lange syndrome 1 [RCV003106702]\|Inborn genetic diseases [RCV003162115]	likely benign\|uncertain significance	5	36975848	36975848	Human	2	name
156441968	CV1941630	single nucleotide variant	NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)	Cornelia de Lange syndrome 1 [RCV003112304]	likely benign	5	37027361	37027361	Human	1	name
10052020	CV194209	single nucleotide variant	NM_133433.4(NIPBL):c.6558A>G (p.Glu2186=)	not provided [RCV000177958]	uncertain significance	5	37046168	37046168	Human		name
10052358	CV194694	single nucleotide variant	NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)	Cornelia de Lange syndrome 1 [RCV001807114]\|Inborn genetic diseases [RCV002399636]\|NIPBL-related disorder [RCV003917665]\|not provided [RCV000178587]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37060886	37060886	Human	3	name , alternate_id
156438538	CV1947149	single nucleotide variant	NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)	Cornelia de Lange syndrome 1 [RCV003108482]	likely benign	5	37000386	37000386	Human	1	name
156437761	CV1947776	single nucleotide variant	NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)	Cornelia de Lange syndrome 1 [RCV003107303]	likely benign	5	37045483	37045483	Human	1	name
156117782	CV1982595	single nucleotide variant	NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)	Cornelia de Lange syndrome 1 [RCV002622827]	uncertain significance	5	37049187	37049187	Human	1	name
156389181	CV1996068	single nucleotide variant	NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)	Cornelia de Lange syndrome 1 [RCV002654223]	likely benign	5	37020856	37020856	Human	1	name
156306856	CV2013789	single nucleotide variant	NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)	Cornelia de Lange syndrome 1 [RCV002716321]	uncertain significance	5	36961528	36961528	Human	1	name
155951848	CV2033141	single nucleotide variant	NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)	Cornelia de Lange syndrome 1 [RCV002730721]	uncertain significance	5	36970881	36970881	Human	1	name
156042308	CV2044141	single nucleotide variant	NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)	Cornelia de Lange syndrome 1 [RCV002781537]	likely benign	5	37049166	37049166	Human	1	name
155949819	CV2046613	single nucleotide variant	NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)	Cornelia de Lange syndrome 1 [RCV002775710]\|not provided [RCV003434507]	likely benign	5	37000521	37000521	Human	1	name
156288315	CV2047081	single nucleotide variant	NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)	Cornelia de Lange syndrome 1 [RCV002770658]	likely benign	5	37045549	37045549	Human	1	name
155990166	CV2053274	single nucleotide variant	NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)	Cornelia de Lange syndrome 1 [RCV002819169]	likely benign	5	37003278	37003278	Human	1	name
156270300	CV2059800	single nucleotide variant	NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)	Cornelia de Lange syndrome 1 [RCV002806637]	likely benign	5	37064760	37064760	Human	1	name
156058655	CV2060777	single nucleotide variant	NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)	Cornelia de Lange syndrome 1 [RCV002797019]	pathogenic	5	36975781	36975781	Human	1	name
155983616	CV2070239	single nucleotide variant	NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)	Cornelia de Lange syndrome 1 [RCV002842641]	likely benign	5	37006458	37006458	Human	1	name
10406919	CV207222	duplication	NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)	Cornelia de Lange syndrome 1 [RCV000194718]	pathogenic	5	36985171	36985172	Human	1	name
10406906	CV207224	deletion	NM_133433.4(NIPBL):c.2464del (p.Gln822fs)	Cornelia de Lange syndrome 1 [RCV000194656]	pathogenic	5	36985644	36985644	Human	1	name
10406892	CV207226	duplication	NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)	Cornelia de Lange syndrome 1 [RCV000194589]	pathogenic	5	36986139	36986140	Human	1	name
10406795	CV207244	insertion	NM_133433.4(NIPBL):c.5863-12_5863-11insAT	not specified [RCV000194170]	benign	5	37036367	37036368	Human		name
156248444	CV2097928	single nucleotide variant	NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)	Cornelia de Lange syndrome 1 [RCV002895176]	uncertain significance	5	36961510	36961510	Human	1	name
156003071	CV2103453	single nucleotide variant	NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)	Cornelia de Lange syndrome 1 [RCV002908727]	likely benign	5	37007381	37007381	Human	1	name
156144361	CV2106281	single nucleotide variant	NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)	Cornelia de Lange syndrome 1 [RCV002928676]	likely benign	5	37010114	37010114	Human	1	name
156334609	CV2109141	single nucleotide variant	NM_133433.4(NIPBL):c.790A>G (p.Met264Val)	Cornelia de Lange syndrome 1 [RCV002938557]	uncertain significance	5	36971963	36971963	Human	1	name
156139596	CV2109830	single nucleotide variant	NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)	Cornelia de Lange syndrome 1 [RCV002928505]\|NIPBL-related disorder [RCV003943605]\|not provided [RCV003434526]	likely benign	5	36970942	36970942	Human	2	name , alternate_id
156289596	CV2115161	single nucleotide variant	NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)	Cornelia de Lange syndrome 1 [RCV002922096]	likely benign	5	37022274	37022274	Human	1	name
156250706	CV2116922	single nucleotide variant	NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)	Cornelia de Lange syndrome 1 [RCV002933537]	likely benign	5	37003326	37003326	Human	1	name
156127286	CV2124960	single nucleotide variant	NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)	Cornelia de Lange syndrome 1 [RCV002953739]	likely benign	5	37019352	37019352	Human	1	name
156212178	CV2127800	single nucleotide variant	NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)	Cornelia de Lange syndrome 1 [RCV002957791]	likely benign	5	37063843	37063843	Human	1	name
155990395	CV2133691	single nucleotide variant	NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)	Cornelia de Lange syndrome 1 [RCV002996539]	uncertain significance	5	36975811	36975811	Human	1	name
156161776	CV2136846	single nucleotide variant	NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)	Cornelia de Lange syndrome 1 [RCV003005090]	likely benign	5	37010189	37010189	Human	1	name
156024091	CV2137649	single nucleotide variant	NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)	Cornelia de Lange syndrome 1 [RCV002976299]	uncertain significance	5	37010225	37010225	Human	1	name
155935196	CV2138740	single nucleotide variant	NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)	Cornelia de Lange syndrome 1 [RCV002993666]	likely benign	5	37051787	37051787	Human	1	name
156159307	CV2147243	single nucleotide variant	NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)	Cornelia de Lange syndrome 1 [RCV003023134]	uncertain significance	5	36962235	36962235	Human	1	name
156263019	CV2169991	single nucleotide variant	NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)	Cornelia de Lange syndrome 1 [RCV003026723]	likely benign	5	37045483	37045483	Human	1	name
156148603	CV2175197	single nucleotide variant	NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)	Cornelia de Lange syndrome 1 [RCV003040293]	uncertain significance	5	36971957	36971957	Human	1	name
156345095	CV2176289	single nucleotide variant	NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)	Cornelia de Lange syndrome 1 [RCV003030513]	likely benign	5	37064724	37064724	Human	1	name
155970021	CV2213419	single nucleotide variant	NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)	Cornelia de Lange syndrome 1 [RCV003603131]\|Inborn genetic diseases [RCV002687416]	likely benign\|uncertain significance	5	36975830	36975830	Human	2	name
156177375	CV2258166	single nucleotide variant	NM_133433.4(NIPBL):c.835T>A (p.Cys279Ser)	Inborn genetic diseases [RCV002788417]	uncertain significance	5	36972008	36972008	Human	1	name
155969149	CV2262080	single nucleotide variant	NM_133433.4(NIPBL):c.450C>A (p.Ser150Arg)	Inborn genetic diseases [RCV002817543]	uncertain significance	5	36961575	36961575	Human	1	name
156438317	CV2401553	single nucleotide variant	NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr)	not provided [RCV003108257]	uncertain significance	5	36970918	36970918	Human		name
156448815	CV2402234	duplication	NM_133433.4(NIPBL):c.1345dup (p.Gln449fs)	not provided [RCV003120393]	pathogenic	5	36976248	36976249	Human		name
156451035	CV2402412	single nucleotide variant	NM_133433.4(NIPBL):c.398T>C (p.Met133Thr)	not provided [RCV003123211]	uncertain significance	5	36961523	36961523	Human		name
156436187	CV2403648	single nucleotide variant	NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter)	Cornelia de Lange syndrome 1 [RCV003128096]	likely pathogenic	5	36958201	36958201	Human	1	name
156436058	CV2403669	single nucleotide variant	NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)	Cornelia de Lange syndrome 1 [RCV003128172]	conflicting interpretations of pathogenicity\|uncertain significance	5	37052371	37052371	Human	1	name
243050858	CV2415602	single nucleotide variant	NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)	Cornelia de Lange syndrome 1 [RCV003148202]	uncertain significance	5	36971985	36971985	Human	1	name
329367107	CV2442103	single nucleotide variant	NM_133433.4(NIPBL):c.409C>T (p.Pro137Ser)	Inborn genetic diseases [RCV003208115]	uncertain significance	5	36961534	36961534	Human	1	name
11642511	CV266116	single nucleotide variant	NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)	NIPBL-related disorder [RCV003939952]\|not provided [RCV000376935]	likely benign\|uncertain significance	5	37022327	37022327	Human	1	name , alternate_id
11641185	CV267314	single nucleotide variant	NM_133433.4(NIPBL):c.7893T>C (p.Asp2631=)	not provided [RCV000352400]	uncertain significance	5	37063822	37063822	Human		name
11639420	CV268939	single nucleotide variant	NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr)	not specified [RCV000319461]	likely benign	5	36972035	36972035	Human		name
11638012	CV269322	single nucleotide variant	NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=)	not provided [RCV000294647]	uncertain significance	5	37006479	37006479	Human		name
401726750	CV2736172	single nucleotide variant	NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=)	not provided [RCV003312619]	likely benign	5	37059073	37059073	Human		name
401732776	CV2736761	single nucleotide variant	NM_133433.4(NIPBL):c.967C>G (p.Gln323Glu)	not provided [RCV003313523]	uncertain significance	5	36975874	36975874	Human		name
11642763	CV274927	single nucleotide variant	NM_133433.4(NIPBL):c.6285T>G (p.Val2095=)	not provided [RCV000381366]	uncertain significance	5	37044671	37044671	Human		name
401915534	CV2795276	single nucleotide variant	NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)	Cornelia de Lange syndrome 1 [RCV003389109]	uncertain significance	5	36958187	36958187	Human	1	name
401908138	CV2801289	single nucleotide variant	NM_133433.4(NIPBL):c.832G>A (p.Val278Ile)	NIPBL-related disorder [RCV003397529]	uncertain significance	5	36972005	36972005	Human		name , trait , alternate_id
401925137	CV2805265	single nucleotide variant	NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)	not specified [RCV003405086]	likely benign	5	37026315	37026315	Human		name
401917632	CV2827712	deletion	NM_133433.4(NIPBL):c.-79-1569_-79-1562del	not provided [RCV003429604]	benign	5	36952048	36952055	Human		name
401917633	CV2827713	deletion	NM_133433.4(NIPBL):c.-79-1563_-79-1540del	not provided [RCV003429605]	likely benign	5	36952051	36952074	Human		name
401917650	CV2827722	single nucleotide variant	NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=)	not provided [RCV003429612]	likely benign	5	37010201	37010201	Human		name
401917652	CV2827723	single nucleotide variant	NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=)	not provided [RCV003429613]	likely benign	5	37014724	37014724	Human		name
401917654	CV2827724	single nucleotide variant	NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)	Cornelia de Lange syndrome 1 [RCV005062940]\|not provided [RCV003429614]	likely benign	5	37014724	37014724	Human	1	name
405106127	CV2855833	single nucleotide variant	NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)	Cornelia de Lange syndrome 1 [RCV003498271]	uncertain significance	5	36972015	36972015	Human	1	name
405108516	CV2856504	single nucleotide variant	NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)	Cornelia de Lange syndrome 1 [RCV003498823]	uncertain significance	5	36972010	36972010	Human	1	name
405113100	CV2881627	single nucleotide variant	NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)	Cornelia de Lange syndrome 1 [RCV003499572]	likely benign	5	37038654	37038654	Human	1	name
405113445	CV2886342	single nucleotide variant	NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)	Cornelia de Lange syndrome 1 [RCV003499714]	likely benign	5	37044457	37044457	Human	1	name
405113730	CV2886655	single nucleotide variant	NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)	Cornelia de Lange syndrome 1 [RCV003499764]	uncertain significance	5	36972011	36972011	Human	1	name
405112988	CV2887809	single nucleotide variant	NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)	Cornelia de Lange syndrome 1 [RCV003499515]	likely benign	5	37052467	37052467	Human	1	name
405103470	CV2899137	single nucleotide variant	NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)	Cornelia de Lange syndrome 1 [RCV003497372]	uncertain significance	5	36970879	36970879	Human	1	name
405103619	CV2905777	single nucleotide variant	NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)	Cornelia de Lange syndrome 1 [RCV003497425]	benign	5	37008058	37008058	Human	1	name
405104359	CV2907552	single nucleotide variant	NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)	Cornelia de Lange syndrome 1 [RCV003497698]	likely benign	5	37000851	37000851	Human	1	name
405047304	CV2940143	single nucleotide variant	NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)	Cornelia de Lange syndrome 1 [RCV003603211]	likely benign	5	37058926	37058926	Human	1	name
405047827	CV2947497	single nucleotide variant	NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)	Cornelia de Lange syndrome 1 [RCV003603252]	likely benign	5	37044349	37044349	Human	1	name
405048993	CV2949261	single nucleotide variant	NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)	Cornelia de Lange syndrome 1 [RCV003603343]	likely benign	5	37049265	37049265	Human	1	name
405050162	CV2958473	single nucleotide variant	NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)	Cornelia de Lange syndrome 1 [RCV003603436]	likely benign	5	37058953	37058953	Human	1	name
404983341	CV2961276	single nucleotide variant	NM_133433.4(NIPBL):c.3405T>C (p.His1135=)	Cornelia de Lange syndrome 1 [RCV003603426]	likely benign	5	37000473	37000473	Human	1	name
404987986	CV2965231	single nucleotide variant	NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)	Cornelia de Lange syndrome 1 [RCV003604175]	likely benign	5	37063885	37063885	Human	1	name
404990017	CV2979539	duplication	NM_133433.4(NIPBL):c.1075dup (p.Thr359fs)	Cornelia de Lange syndrome 1 [RCV003604393]	pathogenic	5	36975981	36975982	Human	1	name
404990136	CV2986801	single nucleotide variant	NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)	Cornelia de Lange syndrome 1 [RCV003604406]	likely benign	5	37020485	37020485	Human	1	name
404988927	CV2987467	single nucleotide variant	NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)	Cornelia de Lange syndrome 1 [RCV003604278]	likely benign	5	37063936	37063936	Human	1	name
11589985	CV299526	single nucleotide variant	NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=)	Cornelia de Lange syndrome 1 [RCV000314780]	likely benign\|uncertain significance	5	37006542	37006542	Human	1	name
11594205	CV299528	single nucleotide variant	NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)	Cornelia de Lange syndrome 1 [RCV000356643]	conflicting interpretations of pathogenicity\|uncertain significance	5	37008676	37008676	Human	1	name
11593839	CV299534	single nucleotide variant	NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)	Cornelia de Lange syndrome 1 [RCV000902828]\|Inborn genetic diseases [RCV002314076]	likely benign\|uncertain significance	5	37048557	37048557	Human	2	name
11587485	CV303654	single nucleotide variant	NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)	Cornelia de Lange syndrome 1 [RCV000295573]	conflicting interpretations of pathogenicity\|uncertain significance	5	37045501	37045501	Human	1	name
11661026	CV303657	single nucleotide variant	NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=)	Cornelia de Lange syndrome 1 [RCV000372544]	uncertain significance	5	37057284	37057284	Human	1	name
405044811	CV3044241	single nucleotide variant	NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)	Cornelia de Lange syndrome 1 [RCV003602911]	likely benign	5	37049235	37049235	Human	1	name
405044865	CV3045213	single nucleotide variant	NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)	Cornelia de Lange syndrome 1 [RCV003602974]	likely benign	5	37014739	37014739	Human	1	name
404983938	CV3052558	single nucleotide variant	NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)	Cornelia de Lange syndrome 1 [RCV003603530]	likely benign	5	37008637	37008637	Human	1	name
404986495	CV3071740	single nucleotide variant	NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)	Cornelia de Lange syndrome 1 [RCV003603999]	likely benign	5	37049139	37049139	Human	1	name
404986147	CV3074202	single nucleotide variant	NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)	Cornelia de Lange syndrome 1 [RCV003603986]	likely benign	5	37022143	37022143	Human	1	name
404986636	CV3077078	single nucleotide variant	NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)	Cornelia de Lange syndrome 1 [RCV003604015]	likely benign	5	36995755	36995755	Human	1	name
404985205	CV3078575	single nucleotide variant	NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)	Cornelia de Lange syndrome 1 [RCV003603864]	likely benign	5	37044415	37044415	Human	1	name
404985623	CV3079157	single nucleotide variant	NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)	Cornelia de Lange syndrome 1 [RCV003603924]	likely benign	5	37064610	37064610	Human	1	name
404991296	CV3080433	single nucleotide variant	NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)	Cornelia de Lange syndrome 1 [RCV003604551]	likely benign	5	37014709	37014709	Human	1	name
405146506	CV3126529	single nucleotide variant	NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)	Cornelia de Lange syndrome 1 [RCV003817256]	likely benign	5	37048629	37048629	Human	1	name
405121085	CV3131550	single nucleotide variant	NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)	Cornelia de Lange syndrome 1 [RCV003837414]	likely benign	5	37020500	37020500	Human	1	name
405154321	CV3135122	single nucleotide variant	NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)	Cornelia de Lange syndrome 1 [RCV003840234]	uncertain significance	5	36975796	36975796	Human	1	name
405123568	CV3136345	single nucleotide variant	NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)	Cornelia de Lange syndrome 1 [RCV003837675]	uncertain significance	5	36975800	36975800	Human	1	name
405080214	CV3137160	single nucleotide variant	NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)	Cornelia de Lange syndrome 1 [RCV003834059]	uncertain significance	5	36962250	36962250	Human	1	name
405101599	CV3144392	single nucleotide variant	NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)	Cornelia de Lange syndrome 1 [RCV003852845]	likely benign	5	37016044	37016044	Human	1	name
405170775	CV3150031	single nucleotide variant	NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)	Cornelia de Lange syndrome 1 [RCV003841502]	likely benign	5	37045498	37045498	Human	1	name
405170990	CV3150048	single nucleotide variant	NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)	Cornelia de Lange syndrome 1 [RCV003841519]	likely benign	5	37060916	37060916	Human	1	name
405050663	CV3150872	single nucleotide variant	NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)	Cornelia de Lange syndrome 1 [RCV003849476]	likely benign	5	37060895	37060895	Human	1	name
405169595	CV3156946	single nucleotide variant	NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)	Cornelia de Lange syndrome 1 [RCV003857650]	likely benign	5	37006374	37006374	Human	1	name
405224056	CV3158449	single nucleotide variant	NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)	Cornelia de Lange syndrome 1 [RCV003863945]\|NIPBL-related disorder [RCV003893530]	benign\|likely benign	5	37019376	37019376	Human	2	name , alternate_id
405247183	CV3158709	single nucleotide variant	NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)	Cornelia de Lange syndrome 1 [RCV003869051]	likely benign	5	37052452	37052452	Human	1	name
405138162	CV3164321	single nucleotide variant	NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)	Cornelia de Lange syndrome 1 [RCV003855116]	likely benign	5	37052422	37052422	Human	1	name
402492955	CV3182649	single nucleotide variant	NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)	Cornelia de Lange syndrome 1 [RCV003877136]	likely benign	5	37046126	37046126	Human	1	name
405263042	CV3189462	single nucleotide variant	NM_133433.4(NIPBL):c.5241T>G (p.Thr1747=)	NIPBL-related disorder [RCV003896696]	likely benign	5	37020790	37020790	Human		name , trait , alternate_id
405277481	CV3195851	single nucleotide variant	NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=)	Cornelia de Lange syndrome 1 [RCV005101679]\|NIPBL-related disorder [RCV003904379]	likely benign	5	37046138	37046138	Human	2	name , alternate_id
405277606	CV3195919	single nucleotide variant	NM_133433.4(NIPBL):c.7485A>G (p.Glu2495=)	NIPBL-related disorder [RCV003904444]	likely benign	5	37058965	37058965	Human		name , trait , alternate_id
405295021	CV3210949	single nucleotide variant	NM_133433.4(NIPBL):c.7882C>T (p.Leu2628=)	NIPBL-related disorder [RCV003936959]	likely benign	5	37063811	37063811	Human		name , trait , alternate_id
405270386	CV3211346	single nucleotide variant	NM_133433.4(NIPBL):c.3540A>G (p.Lys1180=)	NIPBL-related disorder [RCV003949251]	likely benign	5	37000854	37000854	Human		name , trait , alternate_id
405271508	CV3219038	single nucleotide variant	NM_133433.4(NIPBL):c.7098G>A (p.Gln2366=)	NIPBL-related disorder [RCV003971761]	likely benign	5	37052401	37052401	Human		name , trait , alternate_id
405854871	CV3394987	single nucleotide variant	NM_133433.4(NIPBL):c.823C>T (p.Pro275Ser)	not provided [RCV004555128]	uncertain significance	5	36971996	36971996	Human		name
407429384	CV3413795	single nucleotide variant	NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly)	Cornelia de Lange syndrome 1 [RCV004595204]	uncertain significance	5	36975781	36975781	Human	1	name
407573092	CV3498892	single nucleotide variant	NM_133433.4(NIPBL):c.3357G>A (p.Glu1119=)	not specified [RCV004699862]	likely benign	5	37000425	37000425	Human		name
408382450	CV3503310	single nucleotide variant	NM_133433.4(NIPBL):c.460C>T (p.Arg154Trp)	NIPBL-related disorder [RCV004729900]	uncertain significance	5	36962124	36962124	Human		name , trait , alternate_id
408382489	CV3503356	single nucleotide variant	NM_133433.4(NIPBL):c.5604A>G (p.Val1868=)	NIPBL-related disorder [RCV004729930]	likely benign	5	37024614	37024614	Human		name , trait , alternate_id
408376047	CV3506661	deletion	NM_133433.4(NIPBL):c.1395del (p.Tyr466fs)	NIPBL-related disorder [RCV004726431]	likely pathogenic	5	36976302	36976302	Human		name , trait , alternate_id
408370257	CV3509296	single nucleotide variant	NM_133433.4(NIPBL):c.308G>C (p.Ser103Thr)	NIPBL-related disorder [RCV004739212]	uncertain significance	5	36958181	36958181	Human		name , trait , alternate_id
596928881	CV3541654	single nucleotide variant	NM_133433.4(NIPBL):c.868G>C (p.Gly290Arg)	Cornelia de Lange syndrome 1 [RCV004797527]	uncertain significance	5	36972041	36972041	Human	1	name
597627650	CV3556157	single nucleotide variant	NM_133433.4(NIPBL):c.865A>G (p.Lys289Glu)	Cornelia de Lange syndrome 1 [RCV005038850]\|Inborn genetic diseases [RCV004961775]	likely benign\|uncertain significance	5	36972038	36972038	Human	2	name
597627654	CV3556159	single nucleotide variant	NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)	Cornelia de Lange syndrome 1 [RCV005038851]\|Inborn genetic diseases [RCV004961777]	uncertain significance	5	36972024	36972024	Human	2	name
12840086	CV368478	single nucleotide variant	NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=)	Cornelia de Lange syndrome 1 [RCV003114562]\|not provided [RCV000430029]	likely benign	5	37022288	37022288	Human	1	name
12834001	CV368481	single nucleotide variant	NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)	Cornelia de Lange syndrome 1 [RCV001157615]\|not provided [RCV003422401]\|not specified [RCV000419567]	benign\|likely benign	5	37045537	37045537	Human	1	name
597665435	CV3721894	single nucleotide variant	NM_133433.4(NIPBL):c.302C>T (p.Ala101Val)	Cornelia de Lange syndrome 1 [RCV005043286]	uncertain significance	5	36958175	36958175	Human	1	name
597665443	CV3721895	single nucleotide variant	NM_133433.4(NIPBL):c.406A>C (p.Ser136Arg)	Cornelia de Lange syndrome 1 [RCV005043287]	uncertain significance	5	36961531	36961531	Human	1	name
597719750	CV3721897	single nucleotide variant	NM_133433.4(NIPBL):c.466G>A (p.Val156Met)	Cornelia de Lange syndrome 1 [RCV005035625]	uncertain significance	5	36962130	36962130	Human	1	name
597719758	CV3721898	single nucleotide variant	NM_133433.4(NIPBL):c.466G>T (p.Val156Leu)	Cornelia de Lange syndrome 1 [RCV005035626]	uncertain significance	5	36962130	36962130	Human	1	name
597719767	CV3721899	single nucleotide variant	NM_133433.4(NIPBL):c.506A>G (p.Gln169Arg)	Cornelia de Lange syndrome 1 [RCV005035627]	uncertain significance	5	36962170	36962170	Human	1	name
597719777	CV3721900	single nucleotide variant	NM_133433.4(NIPBL):c.512A>G (p.Asn171Ser)	Cornelia de Lange syndrome 1 [RCV005035628]	uncertain significance	5	36962176	36962176	Human	1	name
597719787	CV3721902	single nucleotide variant	NM_133433.4(NIPBL):c.671C>A (p.Ser224Tyr)	Cornelia de Lange syndrome 1 [RCV005035629]	uncertain significance	5	36970936	36970936	Human	1	name
597665450	CV3721904	single nucleotide variant	NM_133433.4(NIPBL):c.755A>G (p.His252Arg)	Cornelia de Lange syndrome 1 [RCV005043288]	uncertain significance	5	36971020	36971020	Human	1	name
597665460	CV3721905	single nucleotide variant	NM_133433.4(NIPBL):c.802G>A (p.Ala268Thr)	Cornelia de Lange syndrome 1 [RCV005043289]	uncertain significance	5	36971975	36971975	Human	1	name
597665471	CV3721906	single nucleotide variant	NM_133433.4(NIPBL):c.835T>C (p.Cys279Arg)	Cornelia de Lange syndrome 1 [RCV005043290]	uncertain significance	5	36972008	36972008	Human	1	name
597719809	CV3721908	single nucleotide variant	NM_133433.4(NIPBL):c.872C>T (p.Ser291Leu)	Cornelia de Lange syndrome 1 [RCV005035631]	uncertain significance	5	36975779	36975779	Human	1	name
597720527	CV3721986	single nucleotide variant	NM_133433.4(NIPBL):c.5862C>T (p.Asn1954=)	Cornelia de Lange syndrome 1 [RCV005035697]	uncertain significance	5	37027412	37027412	Human	1	name
597665796	CV3721990	single nucleotide variant	NM_133433.4(NIPBL):c.6108T>C (p.Ser2036=)	Cornelia de Lange syndrome 1 [RCV005043304]	uncertain significance	5	37038738	37038738	Human	1	name
597651411	CV3730442	single nucleotide variant	NM_133433.4(NIPBL):c.8382C>T (p.Ser2794=)	not specified [RCV005000731]	likely benign	5	37064859	37064859	Human		name
12895386	CV406744	single nucleotide variant	NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg)	not provided [RCV000486290]	likely pathogenic	5	36971948	36971948	Human		name
12893369	CV406745	deletion	NM_133433.4(NIPBL):c.2315del (p.Ser772fs)	not provided [RCV000478771]	pathogenic	5	36985495	36985495	Human		name
12913533	CV421548	single nucleotide variant	NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=)	Cornelia de Lange syndrome 1 [RCV002524012]\|not provided [RCV000493935]	uncertain significance	5	37044481	37044481	Human	1	name
13214492	CV428425	single nucleotide variant	NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)	Cornelia de Lange syndrome 1 [RCV001807275]\|Inborn genetic diseases [RCV002350121]\|not provided [RCV000923834]\|not specified [RCV000501333]	likely benign\|uncertain significance	5	37020844	37020844	Human	2	name
13215919	CV428426	single nucleotide variant	NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)	Cornelia de Lange syndrome 1 [RCV001155913]\|not specified [RCV000503115]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37038609	37038609	Human	1	name
13213233	CV428427	single nucleotide variant	NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=)	not specified [RCV000499689]	uncertain significance	5	37038717	37038717	Human		name
13462339	CV439877	single nucleotide variant	NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser)	Cornelia de Lange syndrome 1 [RCV000515746]	likely pathogenic	5	36972041	36972041	Human	1	name
13482709	CV440891	single nucleotide variant	NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=)	not specified [RCV000517948]	likely benign	5	36995626	36995626	Human		name
13486505	CV455170	duplication	NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)	Cornelia de Lange syndrome 1 [RCV000553774]	pathogenic	5	36985772	36985773	Human	1	name
13466983	CV455173	single nucleotide variant	NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=)	Cornelia de Lange syndrome 1 [RCV001457247]	likely benign	5	37007438	37007438	Human	1	name
13490649	CV455629	single nucleotide variant	NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)	Cornelia de Lange syndrome 1 [RCV001088428]\|Inborn genetic diseases [RCV002311894]\|not provided [RCV000556124]	benign\|likely benign	5	37008013	37008013	Human	2	name
13490719	CV455875	deletion	NM_133433.4(NIPBL):c.1145del (p.Asn382fs)	Cornelia de Lange syndrome 1 [RCV000533708]	pathogenic	5	36976049	36976049	Human	1	name
13522186	CV493426	single nucleotide variant	NM_133433.4(NIPBL):c.6981C>T (p.Gly2327=)	not provided [RCV000591410]	uncertain significance	5	37051805	37051805	Human		name
13625587	CV521794	duplication	NM_133433.4(NIPBL):c.1956dup (p.Gln653fs)	Cornelia de Lange syndrome 1 [RCV000653706]	pathogenic	5	36985133	36985134	Human	1	name
13810552	CV576816	single nucleotide variant	NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)	Cornelia de Lange syndrome 1 [RCV001082372]\|History of neurodevelopmental disorder [RCV000718998]\|not provided [RCV000712417]	benign\|likely benign	5	37064814	37064814	Human	2	name
13828292	CV579066	single nucleotide variant	NM_133433.4(NIPBL):c.4773G>C (p.Leu1591=)	Inborn genetic diseases [RCV002312306]	likely benign	5	37016167	37016167	Human	1	name
13829332	CV579073	single nucleotide variant	NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=)	Cornelia de Lange syndrome 1 [RCV000925712]\|Inborn genetic diseases [RCV002313624]	benign\|likely benign	5	37064562	37064562	Human	2	name
13829781	CV579135	single nucleotide variant	NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)	Cornelia de Lange syndrome 1 [RCV001868356]\|Inborn genetic diseases [RCV002318083]	uncertain significance	5	36958183	36958183	Human	2	name
13830012	CV579153	single nucleotide variant	NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=)	Cornelia de Lange syndrome 1 [RCV002534938]\|Inborn genetic diseases [RCV002318802]	likely benign	5	36995704	36995704	Human	2	name
13828765	CV579157	single nucleotide variant	NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=)	Cornelia de Lange syndrome 1 [RCV000946016]\|Inborn genetic diseases [RCV002316049]\|not provided [RCV003432750]	likely benign	5	37001044	37001044	Human	2	name
13829126	CV579159	single nucleotide variant	NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)	Cornelia de Lange syndrome 1 [RCV003106033]\|Inborn genetic diseases [RCV002314548]	benign\|likely benign	5	37048536	37048536	Human	2	name
13830311	CV579160	single nucleotide variant	NM_133433.4(NIPBL):c.4305T>C (p.Ile1435=)	Inborn genetic diseases [RCV002317423]	likely benign	5	37008073	37008073	Human	1	name
13830380	CV579161	single nucleotide variant	NM_133433.4(NIPBL):c.7245C>T (p.Asn2415=)	Inborn genetic diseases [RCV002317500]	likely benign	5	37052548	37052548	Human	1	name
13829898	CV579163	single nucleotide variant	NM_133433.4(NIPBL):c.6069T>C (p.His2023=)	Inborn genetic diseases [RCV002318693]\|not provided [RCV000914595]	likely benign	5	37038699	37038699	Human	1	name
13830309	CV579165	single nucleotide variant	NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=)	Cornelia de Lange syndrome 1 [RCV002534964]\|Inborn genetic diseases [RCV002317421]	likely benign	5	37059070	37059070	Human	2	name
13829972	CV579166	single nucleotide variant	NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=)	Cornelia de Lange syndrome 1 [RCV003603071]\|Inborn genetic diseases [RCV002318765]	likely benign	5	37064891	37064891	Human	2	name
14737583	CV633947	deletion	NM_133433.4(NIPBL):c.2120del (p.Gly707fs)	Cornelia de Lange syndrome 1 [RCV000820519]	pathogenic	5	36985298	36985298	Human	1	name
14703005	CV654126	deletion	NM_133433.4(NIPBL):c.1320del (p.Asn440fs)	Cornelia de Lange syndrome 1 [RCV000825001]	pathogenic	5	36976227	36976227	Human	1	name
15015218	CV679747	deletion	NM_133433.4(NIPBL):c.2291del (p.Asn764fs)	Cornelia de Lange syndrome 1 [RCV000853369]	pathogenic	5	36985470	36985470	Human	1	name
15124315	CV691856	single nucleotide variant	NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=)	Cornelia de Lange syndrome 1 [RCV002539188]	likely benign	5	37045489	37045489	Human	1	name
15106676	CV691857	single nucleotide variant	NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)	Cornelia de Lange syndrome 1 [RCV001157616]	likely benign	5	37051871	37051871	Human	1	name
15179154	CV699079	single nucleotide variant	NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=)	Cornelia de Lange syndrome 1 [RCV001438083]	likely benign	5	37044409	37044409	Human	1	name
15171871	CV699081	single nucleotide variant	NM_133433.4(NIPBL):c.8148A>G (p.Pro2716=)	not provided [RCV000949911]	likely benign	5	37064625	37064625	Human		name
15180059	CV709905	single nucleotide variant	NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=)	NIPBL-related disorder [RCV003943237]\|not provided [RCV000974059]	likely benign	5	37000437	37000437	Human	1	name , alternate_id
15112242	CV749490	single nucleotide variant	NM_133433.4(NIPBL):c.6919T>C (p.Leu2307=)	not provided [RCV000916877]	likely benign	5	37049266	37049266	Human		name
15159446	CV749491	single nucleotide variant	NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=)	not provided [RCV000925283]	likely benign	5	37058929	37058929	Human		name
15199531	CV765112	single nucleotide variant	NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=)	Cornelia de Lange syndrome 1 [RCV000935132]	likely benign	5	36986198	36986198	Human	1	name
15107060	CV782288	single nucleotide variant	NM_133433.4(NIPBL):c.6945T>C (p.His2315=)	not provided [RCV000976747]	likely benign	5	37049292	37049292	Human		name
15101676	CV782289	single nucleotide variant	NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=)	Cornelia de Lange syndrome 1 [RCV001483449]	likely benign	5	37052521	37052521	Human	1	name
15122594	CV782290	single nucleotide variant	NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=)	Cornelia de Lange syndrome 1 [RCV003603084]	likely benign	5	37064868	37064868	Human	1	name
21066958	CV793089	single nucleotide variant	NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=)	Cornelia de Lange syndrome 1 [RCV003497914]\|not provided [RCV000992443]	benign\|likely benign	5	37006362	37006362	Human	1	name
26893942	CV830855	single nucleotide variant	NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=)	Cornelia de Lange syndrome 1 [RCV001069183]	likely pathogenic\|uncertain significance	5	37059103	37059103	Human	1	name
28880786	CV859427	single nucleotide variant	NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln)	Cornelia de Lange syndrome 1 [RCV003769017]\|not provided [RCV001090997]	uncertain significance	5	36962125	36962125	Human	1	name
28903086	CV894201	single nucleotide variant	NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp)	Cornelia de Lange syndrome 1 [RCV001157401]\|Inborn genetic diseases [RCV002320381]	uncertain significance	5	36958186	36958186	Human	2	name
28903089	CV894202	single nucleotide variant	NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn)	Cornelia de Lange syndrome 1 [RCV001157402]	uncertain significance	5	36961532	36961532	Human	1	name
28888979	CV894203	single nucleotide variant	NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser)	Cornelia de Lange syndrome 1 [RCV001151935]	uncertain significance	5	36970954	36970954	Human	1	name
28903322	CV894211	single nucleotide variant	NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=)	Cornelia de Lange syndrome 1 [RCV001157509]	conflicting interpretations of pathogenicity\|uncertain significance	5	36986282	36986282	Human	1	name
28889573	CV894215	single nucleotide variant	NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=)	Cornelia de Lange syndrome 1 [RCV001152140]\|NIPBL-related disorder [RCV004740602]	likely benign\|uncertain significance	5	37064616	37064616	Human	2	name , alternate_id
38458141	CV924070	deletion	NM_133433.4(NIPBL):c.2479del (p.Arg827fs)	Cornelia de Lange syndrome 1 [RCV001222474]	pathogenic	5	36985659	36985659	Human	1	name
38460904	CV944627	single nucleotide variant	NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)	Cornelia de Lange syndrome 1 [RCV001228873]	uncertain significance	5	37058983	37058983	Human	1	name
38596509	CV963582	single nucleotide variant	NM_133433.4(NIPBL):c.658G>C (p.Asp220His)	Intellectual disability [RCV001251849]	likely benign	5	36970923	36970923	Human	2	name
39456928	CV966249	single nucleotide variant	NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile)	Cornelia de Lange syndrome 1 [RCV004799384]	uncertain significance	5	36962143	36962143	Human	1	name
40814110	CV966948	single nucleotide variant	NM_133433.4(NIPBL):c.841C>G (p.Pro281Ala)	Intellectual disability [RCV001257607]	uncertain significance	5	36972014	36972014	Human	2	name
40904245	CV976650	single nucleotide variant	NM_133433.4(NIPBL):c.432A>C (p.Gln144His)	Cornelia de Lange syndrome 1 [RCV001270407]	uncertain significance	5	36961557	36961557	Human	1	name
126733933	CV990949	single nucleotide variant	NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys)	Cornelia de Lange syndrome 1 [RCV001304355]	uncertain significance	5	36961511	36961511	Human	1	name
8643245	CV102228	single nucleotide variant	NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	Cornelia de Lange syndrome 1 [RCV001155803]\|Inborn genetic diseases [RCV002426647]\|NIPBL-related disorder [RCV003945029]\|not provided [RCV000723636]\|not specified [RCV000146544]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36985627	36985627	Human	3	alternate_id
8643248	CV102231	single nucleotide variant	NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)	Cornelia de Lange syndrome 1 [RCV000146553]\|NIPBL-related disorder [RCV003925084]\|not provided [RCV000790717]	pathogenic	5	36985782	36985782	Human	2	alternate_id
8646414	CV105831	deletion	NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)	Cornelia de Lange syndrome 1 [RCV000086392]\|NIPBL-related disorder [RCV003964960]\|not provided [RCV000256022]	pathogenic	5	37060946	37060946	Human	2	alternate_id
9683136	CV168321	single nucleotide variant	NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)	Cornelia de Lange syndrome 1 [RCV000146724]\|NIPBL-related disorder [RCV003415976]	pathogenic\|uncertain significance	5	36971002	36971002	Human	2	alternate_id
9682946	CV168344	single nucleotide variant	NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)	Cornelia de Lange syndrome 1 [RCV000146525]\|Inborn genetic diseases [RCV002514822]\|NIPBL-related disorder [RCV003917446]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36984771	36984771	Human	3	alternate_id
9683039	CV168427	single nucleotide variant	NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)	Cornelia de Lange syndrome 1 [RCV001155911]\|Inborn genetic diseases [RCV002316935]\|NIPBL-related disorder [RCV003945171]\|not provided [RCV003422033]\|not specified [RCV000146625]	benign\|likely benign	5	37019349	37019349	Human	3	alternate_id
9683073	CV168460	single nucleotide variant	NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)	Cornelia de Lange syndrome 1 [RCV001157612]\|NIPBL-related disorder [RCV003965104]\|not specified [RCV000146660]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37038611	37038611	Human	2	alternate_id
9683118	CV168496	single nucleotide variant	NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)	Cornelia de Lange syndrome 1 [RCV000146705]\|NIPBL-related disorder [RCV003398785]\|not provided [RCV000524005]	pathogenic\|likely pathogenic	5	37049240	37049240	Human	2	alternate_id
9683130	CV168508	single nucleotide variant	NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	Cornelia de Lange syndrome 1 [RCV000146717]\|Inborn genetic diseases [RCV002371984]\|NIPBL-related disorder [RCV003407564]\|not provided [RCV000494480]	pathogenic\|likely pathogenic	5	37052471	37052471	Human	3	alternate_id
9683131	CV168509	deletion	NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)	Cornelia de Lange syndrome 1 [RCV000146718]\|NIPBL-related disorder [RCV004724927]	pathogenic	5	37052500	37052500	Human	2	alternate_id
9683137	CV168514	microsatellite	NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)	Cornelia de Lange syndrome 1 [RCV000146725]\|NIPBL-related disorder [RCV004739469]\|not provided [RCV000599444]	pathogenic	5	37058914	37058915	Human		alternate_id
153348369	CV1691494	microsatellite	NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del)	Cornelia de Lange syndrome 1 [RCV002272977]\|NIPBL-related disorder [RCV004741276]\|not provided [RCV002275369]	likely pathogenic	5	37048637	37048639	Human		alternate_id
155673135	CV1801248	single nucleotide variant	NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)	Cornelia de Lange syndrome 1 [RCV003388629]\|Inborn genetic diseases [RCV002368848]\|NIPBL-related disorder [RCV003408249]\|not provided [RCV004591936]	likely pathogenic\|uncertain significance	5	37044702	37044702	Human	3	alternate_id
155742086	CV1802629	single nucleotide variant	NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)	Cornelia de Lange syndrome 1 [RCV003096628]\|Inborn genetic diseases [RCV002344239]\|NIPBL-related disorder [RCV003943369]	likely benign\|uncertain significance	5	37020585	37020585	Human	3	alternate_id
155737939	CV1831793	single nucleotide variant	NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)	Cornelia de Lange syndrome 1 [RCV003097260]\|Inborn genetic diseases [RCV002410090]\|NIPBL-related disorder [RCV004741289]	likely benign	5	36984987	36984987	Human	3	alternate_id
155962196	CV1885013	deletion	NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)	Cornelia de Lange syndrome 1 [RCV003074743]\|Inborn genetic diseases [RCV004071697]\|NIPBL-related disorder [RCV003973647]	likely benign\|uncertain significance	5	36984932	36984934	Human	3	alternate_id
155939112	CV2376547	single nucleotide variant	NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)	Cornelia de Lange syndrome 1 [RCV003603146]\|Inborn genetic diseases [RCV002729920]\|NIPBL-related disorder [RCV003954030]	likely benign\|uncertain significance	5	36984775	36984775	Human	3	alternate_id
156392918	CV2385464	single nucleotide variant	NM_133433.4(NIPBL):c.1886G>A (p.Arg629Gln)	Inborn genetic diseases [RCV002725206]\|NIPBL-related disorder [RCV004741441]	likely benign\|uncertain significance	5	36985066	36985066	Human	2	alternate_id
243054085	CV2418414	single nucleotide variant	NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)	Cornelia de Lange syndrome 1 [RCV003497974]\|NIPBL-related disorder [RCV004725667]\|not provided [RCV003154440]	uncertain significance	5	37060951	37060951	Human	2	alternate_id
401912161	CV2796072	single nucleotide variant	NM_133433.4(NIPBL):c.2599G>A (p.Glu867Lys)	NIPBL-related disorder [RCV003399768]	uncertain significance	5	36985779	36985779	Human		trait , alternate_id
401937675	CV2796784	single nucleotide variant	NM_133433.4(NIPBL):c.6748C>T (p.Gln2250Ter)	NIPBL-related disorder [RCV003416767]	likely pathogenic	5	37048660	37048660	Human		trait , alternate_id
401927329	CV2796934	single nucleotide variant	NM_133433.4(NIPBL):c.7220G>A (p.Arg2407Gln)	NIPBL-related disorder [RCV003406174]	uncertain significance	5	37052523	37052523	Human		trait , alternate_id
401908836	CV2796965	single nucleotide variant	NM_133433.4(NIPBL):c.3479C>T (p.Ser1160Phe)	NIPBL-related disorder [RCV003397703]	uncertain significance	5	37000547	37000547	Human		trait , alternate_id
401919451	CV2798376	single nucleotide variant	NM_133433.4(NIPBL):c.2510A>C (p.Gln837Pro)	NIPBL-related disorder [RCV003402349]	uncertain significance	5	36985690	36985690	Human		trait , alternate_id
401913608	CV2798960	deletion	NM_133433.4(NIPBL):c.6923_6927del (p.Thr2308fs)	NIPBL-related disorder [RCV003400175]	likely pathogenic	5	37049269	37049273	Human		trait , alternate_id
401914250	CV2799228	single nucleotide variant	NM_133433.4(NIPBL):c.2264C>A (p.Pro755His)	NIPBL-related disorder [RCV003400356]	uncertain significance	5	36985444	36985444	Human		trait , alternate_id
401914350	CV2799255	single nucleotide variant	NM_133433.4(NIPBL):c.6854A>G (p.Gln2285Arg)	NIPBL-related disorder [RCV003400373]	uncertain significance	5	37049201	37049201	Human		trait , alternate_id
401933701	CV2799534	single nucleotide variant	NM_133433.4(NIPBL):c.1222C>T (p.Gln408Ter)	NIPBL-related disorder [RCV003410575]	likely pathogenic	5	36976129	36976129	Human		trait , alternate_id
401916372	CV2799680	single nucleotide variant	NM_133433.4(NIPBL):c.7117A>G (p.Thr2373Ala)	NIPBL-related disorder [RCV003429074]	uncertain significance	5	37052420	37052420	Human		trait , alternate_id
401921781	CV2799968	single nucleotide variant	NM_133433.4(NIPBL):c.2656C>T (p.Gln886Ter)	NIPBL-related disorder [RCV003403070]	likely pathogenic	5	36985836	36985836	Human		trait , alternate_id
401907141	CV2800113	single nucleotide variant	NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)	NIPBL-related disorder [RCV003397249]	uncertain significance	5	36985470	36985470	Human		trait , alternate_id
401912585	CV2800640	single nucleotide variant	NM_133433.4(NIPBL):c.1168A>G (p.Ile390Val)	NIPBL-related disorder [RCV003399890]	uncertain significance	5	36976075	36976075	Human		trait , alternate_id
401934894	CV2800643	single nucleotide variant	NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)	Cornelia de Lange syndrome 1 [RCV003497999]\|NIPBL-related disorder [RCV003412330]	uncertain significance	5	37022245	37022245	Human	2	alternate_id
401931873	CV2801706	single nucleotide variant	NM_133433.4(NIPBL):c.4070G>A (p.Arg1357Lys)	NIPBL-related disorder [RCV003408528]	uncertain significance	5	37006571	37006571	Human		trait , alternate_id
401933943	CV2802441	single nucleotide variant	NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)	Cornelia de Lange syndrome 1 [RCV003603162]\|NIPBL-related disorder [RCV003410824]	uncertain significance	5	36985255	36985255	Human	2	alternate_id
401936402	CV2803262	single nucleotide variant	NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)	NIPBL-related disorder [RCV003414377]	uncertain significance	5	37020533	37020533	Human		trait , alternate_id
401937850	CV2803590	single nucleotide variant	NM_133433.4(NIPBL):c.3055G>C (p.Asp1019His)	NIPBL-related disorder [RCV003416946]	uncertain significance	5	36986235	36986235	Human		trait , alternate_id
401909344	CV2803998	single nucleotide variant	NM_133433.4(NIPBL):c.6089A>G (p.Tyr2030Cys)	NIPBL-related disorder [RCV003397853]	uncertain significance	5	37038719	37038719	Human		trait , alternate_id
401933408	CV2804436	single nucleotide variant	NM_133433.4(NIPBL):c.1948G>A (p.Glu650Lys)	NIPBL-related disorder [RCV003392911]	uncertain significance	5	36985128	36985128	Human		trait , alternate_id
405112683	CV2881866	single nucleotide variant	NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)	Cornelia de Lange syndrome 1 [RCV003499576]\|Inborn genetic diseases [RCV004369185]\|NIPBL-related disorder [RCV004738796]	benign\|likely benign\|uncertain significance	5	36985404	36985404	Human	3	alternate_id
402470130	CV3174839	single nucleotide variant	NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)	Cornelia de Lange syndrome 1 [RCV003873950]\|NIPBL-related disorder [RCV003939250]	uncertain significance	5	37019395	37019395	Human	2	alternate_id
405262761	CV3189407	single nucleotide variant	NM_133433.4(NIPBL):c.1378T>C (p.Ser460Pro)	NIPBL-related disorder [RCV003896641]	uncertain significance	5	36976285	36976285	Human		trait , alternate_id
405271830	CV3189663	deletion	NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)	Cornelia de Lange syndrome 1 [RCV003988165]\|NIPBL-related disorder [RCV003899055]	pathogenic\|likely pathogenic	5	36985956	36985960	Human	2	alternate_id
405263582	CV3189795	single nucleotide variant	NM_133433.4(NIPBL):c.8249A>G (p.Glu2750Gly)	NIPBL-related disorder [RCV003896844]	uncertain significance	5	37064726	37064726	Human		trait , alternate_id
405292607	CV3192526	single nucleotide variant	NM_133433.4(NIPBL):c.2711G>C (p.Arg904Thr)	NIPBL-related disorder [RCV003929780]	uncertain significance	5	36985891	36985891	Human		trait , alternate_id
405259558	CV3194839	single nucleotide variant	NM_133433.4(NIPBL):c.7691T>C (p.Ile2564Thr)	NIPBL-related disorder [RCV003894227]	uncertain significance	5	37060849	37060849	Human		trait , alternate_id
405268854	CV3199114	single nucleotide variant	NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr)	Cornelia de Lange syndrome 1 [RCV005040613]\|NIPBL-related disorder [RCV003912217]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	37000408	37000408	Human	2	alternate_id
405258617	CV3203894	duplication	NM_133433.4(NIPBL):c.6873dup (p.His2292fs)	NIPBL-related disorder [RCV003942056]	pathogenic	5	37049214	37049215	Human		trait , alternate_id
405295340	CV3209535	single nucleotide variant	NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln)	Cornelia de Lange syndrome 1 [RCV005038631]\|NIPBL-related disorder [RCV003937285]	uncertain significance	5	37060903	37060903	Human	2	alternate_id
408370994	CV3504610	single nucleotide variant	NM_133433.4(NIPBL):c.4891C>G (p.Gln1631Glu)	NIPBL-related disorder [RCV004724340]	uncertain significance	5	37017133	37017133	Human		trait , alternate_id
408371075	CV3504766	single nucleotide variant	NM_133433.4(NIPBL):c.1492A>G (p.Lys498Glu)	NIPBL-related disorder [RCV004724443]	likely pathogenic	5	36976399	36976399	Human		trait , alternate_id
408378563	CV3505337	single nucleotide variant	NM_133433.4(NIPBL):c.4952T>A (p.Leu1651Ter)	NIPBL-related disorder [RCV004728026]	likely pathogenic	5	37019342	37019342	Human		trait , alternate_id
408382782	CV3506024	single nucleotide variant	NM_133433.4(NIPBL):c.7291A>C (p.Ile2431Leu)	NIPBL-related disorder [RCV004730161]	uncertain significance	5	37057213	37057213	Human		trait , alternate_id
408379326	CV3506864	deletion	NM_133433.4(NIPBL):c.8231_8242del (p.Tyr2744_Ser2747del)	NIPBL-related disorder [RCV004728375]	likely pathogenic	5	37064701	37064712	Human		trait , alternate_id
408379595	CV3507019	single nucleotide variant	NM_133433.4(NIPBL):c.2900G>A (p.Gly967Asp)	NIPBL-related disorder [RCV004728487]	uncertain significance	5	36986080	36986080	Human		trait , alternate_id
408379601	CV3507143	single nucleotide variant	NM_133433.4(NIPBL):c.4536T>A (p.Asn1512Lys)	NIPBL-related disorder [RCV004728560]	uncertain significance	5	37010201	37010201	Human		trait , alternate_id
408370059	CV3507687	single nucleotide variant	NM_133433.4(NIPBL):c.4192T>G (p.Ser1398Ala)	NIPBL-related disorder [RCV004739026]	uncertain significance	5	37007427	37007427	Human		trait , alternate_id
408370772	CV3513371	single nucleotide variant	NM_133433.4(NIPBL):c.5201C>T (p.Thr1734Ile)	NIPBL-related disorder [RCV004740066]	likely pathogenic	5	37020649	37020649	Human		trait , alternate_id
13462669	CV439150	single nucleotide variant	NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)	Cornelia de Lange syndrome 1 [RCV003105936]\|Inborn genetic diseases [RCV002524991]\|NIPBL-related disorder [RCV003900066]\|not provided [RCV000514588]	likely benign\|uncertain significance	5	36976117	36976117	Human	3	alternate_id
13829984	CV579070	single nucleotide variant	NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg)	Inborn genetic diseases [RCV002318775]\|NIPBL-related disorder [RCV003392556]	uncertain significance	5	37052400	37052400	Human	2	alternate_id
13828987	CV579151	single nucleotide variant	NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)	Cornelia de Lange syndrome 1 [RCV003497877]\|Inborn genetic diseases [RCV002314407]\|NIPBL-related disorder [RCV003918161]	benign\|likely benign	5	36985071	36985071	Human	3	alternate_id
13829634	CV579152	single nucleotide variant	NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)	Cornelia de Lange syndrome 1 [RCV003133578]\|Inborn genetic diseases [RCV002315491]\|NIPBL-related disorder [RCV004740428]	uncertain significance	5	36985691	36985691	Human	3	alternate_id
14725270	CV633954	single nucleotide variant	NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)	Cornelia de Lange syndrome 1 [RCV000798739]\|NIPBL-related disorder [RCV003411756]	pathogenic\|likely pathogenic\|uncertain significance	5	37048609	37048609	Human	2	alternate_id
15182189	CV699080	single nucleotide variant	NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr)	Cornelia de Lange syndrome 1 [RCV003603080]\|NIPBL-related disorder [RCV003970738]	likely benign	5	37060965	37060965	Human	2	alternate_id
28899372	CV894209	single nucleotide variant	NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala)	Cornelia de Lange syndrome 1 [RCV001155802]\|Inborn genetic diseases [RCV005372561]\|NIPBL-related disorder [RCV004740604]	likely benign\|uncertain significance	5	36985317	36985317	Human	3	alternate_id
28889274	CV894212	single nucleotide variant	NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)	Cornelia de Lange syndrome 1 [RCV001152040]\|NIPBL-related disorder [RCV003393860]	uncertain significance	5	37007439	37007439	Human	2	alternate_id
10406990	CV207245	insertion	NM_133433.4(NIPBL):c.5863-12_5863-11insATAT	not specified [RCV000194999]	benign	5	37036367	37036368	Human		name
405041784	CV3041002	insertion	NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT	Cornelia de Lange syndrome 1 [RCV003602729]	likely benign	5	37016181	37016182	Human	1	name
12894392	CV406746	indel	NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA	not provided [RCV000482665]	likely pathogenic	5	37026216	37026217	Human		name
14725117	CV661155	insertion	NM_133433.4(NIPBL):c.5972-186_5972-185insATGT	not provided [RCV000833293]	benign	5	37038415	37038416	Human		name
10406703	CV207254	indel	NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13	Cornelia de Lange syndrome 1 [RCV000193765]	pathogenic	5	37057223	37057230	Human		name
150507979	CV1213909	insertion	NM_133433.4(NIPBL):c.5863-31_5863-30insGTATATATATAT	not provided [RCV001596430]	likely benign	5	37036347	37036348	Human		name

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