Abcb11 Variant Search Result - Rat Genome Database

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1003 records found for search term Abcb11

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12843408	CV365921	single nucleotide variant	NM_003742.4(ABCB11):c.*6T>A	not specified [RCV000436169]	likely benign	2	168923616	168923616	Human		name
11595139	CV285442	single nucleotide variant	NM_003742.4(ABCB11):c.-78C>T	Progressive familial intrahepatic cholestasis type 2 [RCV000367329]	uncertain significance	2	169031275	169031275	Human	1	name
28869633	CV881410	single nucleotide variant	NM_003742.4(ABCB11):c.*26A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001130739]	uncertain significance	2	168923596	168923596	Human	1	name
28869058	CV881428	single nucleotide variant	NM_003742.4(ABCB11):c.-57C>T	Progressive familial intrahepatic cholestasis type 2 [RCV001130410]	uncertain significance	2	169031254	169031254	Human	1	name
28870340	CV881429	single nucleotide variant	NM_003742.4(ABCB11):c.-64A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001131129]	uncertain significance	2	169031261	169031261	Human	1	name
28870344	CV881430	single nucleotide variant	NM_003742.4(ABCB11):c.-97T>C	Progressive familial intrahepatic cholestasis type 2 [RCV001131130]	benign	2	169031294	169031294	Human	1	name
127246396	CV1068327	single nucleotide variant	NM_003742.4(ABCB11):c.77-5G>A	not provided [RCV001394095]	likely benign	2	169016804	169016804	Human		name
127323874	CV1132438	single nucleotide variant	NM_003742.4(ABCB11):c.76+7G>C	not provided [RCV001485340]	likely benign	2	169018043	169018043	Human		name
150529159	CV1288702	single nucleotide variant	NM_003742.4(ABCB11):c.98+5G>T	not provided [RCV001727170]	likely pathogenic	2	169016773	169016773	Human		name
151852210	CV1458951	single nucleotide variant	NM_003742.4(ABCB11):c.76+1G>A	ABCB11-related disorder [RCV004744210]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003475286]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254018]\|not provided [RCV002016741]	likely pathogenic\|uncertain significance	2	169018049	169018049	Human	2	name , alternate_id
152100057	CV1595682	single nucleotide variant	NM_003742.4(ABCB11):c.98+7G>T	not provided [RCV002213884]	likely benign	2	169016771	169016771	Human		name
155267897	CV1701437	single nucleotide variant	NM_003742.4(ABCB11):c.76+4A>G	Progressive familial intrahepatic cholestasis type 2 [RCV002283663]	uncertain significance	2	169018046	169018046	Human	1	name
155797112	CV1860154	single nucleotide variant	NM_003742.4(ABCB11):c.99-2A>G	Progressive familial intrahepatic cholestasis [RCV002466795]	pathogenic	2	169014356	169014356	Human	1	name
156383615	CV1979631	single nucleotide variant	NM_003742.4(ABCB11):c.99-6C>T	not provided [RCV002634458]	likely benign	2	169014360	169014360	Human		name
156091637	CV2013901	deletion	NM_003742.4(ABCB11):c.76+9del	not provided [RCV002694964]	likely benign	2	169018041	169018041	Human		name
156325862	CV2054118	single nucleotide variant	NM_003742.4(ABCB11):c.77-2A>G	Progressive familial intrahepatic cholestasis type 2 [RCV005254134]\|not provided [RCV002810390]	likely pathogenic	2	169016801	169016801	Human	1	name
156131752	CV2169191	single nucleotide variant	NM_003742.4(ABCB11):c.76+9C>T	not provided [RCV003022203]	likely benign	2	169018041	169018041	Human		name
11589540	CV282606	single nucleotide variant	NM_003742.4(ABCB11):c.*440G>A	Progressive familial intrahepatic cholestasis type 2 [RCV000311546]	likely benign\|uncertain significance	2	168923182	168923182	Human	1	name
11597946	CV282611	single nucleotide variant	NM_003742.4(ABCB11):c.*368G>A	Progressive familial intrahepatic cholestasis type 2 [RCV000399919]\|not provided [RCV004708415]	benign	2	168923254	168923254	Human	1	name
11658746	CV283360	single nucleotide variant	NM_003742.4(ABCB11):c.*533C>A	Progressive familial intrahepatic cholestasis type 2 [RCV000351385]	uncertain significance	2	168923089	168923089	Human	1	name
11663679	CV283362	single nucleotide variant	NM_003742.4(ABCB11):c.*509C>T	Progressive familial intrahepatic cholestasis type 2 [RCV000398150]	uncertain significance	2	168923113	168923113	Human	1	name
11587931	CV283363	single nucleotide variant	NM_003742.4(ABCB11):c.*281T>G	Progressive familial intrahepatic cholestasis type 2 [RCV000299008]	uncertain significance	2	168923341	168923341	Human	1	name
11588677	CV283364	single nucleotide variant	NM_003742.4(ABCB11):c.*236A>G	Progressive familial intrahepatic cholestasis type 2 [RCV000304818]\|not provided [RCV001712054]	benign	2	168923386	168923386	Human	1	name
401949538	CV2833933	single nucleotide variant	NM_003742.4(ABCB11):c.98+2T>C	Benign recurrent intrahepatic cholestasis type 2 [RCV003474398]	likely pathogenic	2	169016776	169016776	Human	1	name
11583682	CV284894	single nucleotide variant	NM_003742.4(ABCB11):c.*237T>C	Progressive familial intrahepatic cholestasis type 2 [RCV000268333]	likely benign\|uncertain significance	2	168923385	168923385	Human	1	name
11659630	CV284897	single nucleotide variant	NM_003742.4(ABCB11):c.*193G>C	Progressive familial intrahepatic cholestasis [RCV000359723]	uncertain significance	2	168923429	168923429	Human	1	name
11592431	CV285408	single nucleotide variant	NM_003742.4(ABCB11):c.*420A>G	Progressive familial intrahepatic cholestasis type 2 [RCV000338441]\|not provided [RCV004708414]	benign	2	168923202	168923202	Human	1	name
11658989	CV285410	single nucleotide variant	NM_003742.4(ABCB11):c.*252T>A	Progressive familial intrahepatic cholestasis type 2 [RCV000353838]	uncertain significance	2	168923370	168923370	Human	1	name
405869773	CV3399495	single nucleotide variant	NM_003742.4(ABCB11):c.99-2A>T	Benign recurrent intrahepatic cholestasis type 2 [RCV004573640]	likely pathogenic	2	169014356	169014356	Human	1	name
597896412	CV3828509	single nucleotide variant	NM_003742.4(ABCB11):c.76+2T>G	not provided [RCV005171402]	likely pathogenic	2	169018048	169018048	Human		name
13516138	CV492283	deletion	NM_003742.4(ABCB11):c.77-8del	not provided [RCV001510585]\|not specified [RCV000595145]	benign\|likely benign	2	169016807	169016807	Human		name
13525269	CV499021	single nucleotide variant	NM_003742.4(ABCB11):c.76+3G>A	not specified [RCV000602933]	likely benign	2	169018047	169018047	Human		name
28878143	CV881406	single nucleotide variant	NM_003742.4(ABCB11):c.*670G>C	Progressive familial intrahepatic cholestasis type 2 [RCV001135055]	uncertain significance	2	168922952	168922952	Human	1	name
28868562	CV881407	single nucleotide variant	NM_003742.4(ABCB11):c.*640G>C	Progressive familial intrahepatic cholestasis type 2 [RCV001130032]	uncertain significance	2	168922982	168922982	Human	1	name
28868564	CV881408	single nucleotide variant	NM_003742.4(ABCB11):c.*406A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001130033]	uncertain significance	2	168923216	168923216	Human	1	name
28869630	CV881409	single nucleotide variant	NM_003742.4(ABCB11):c.*316G>A	Progressive familial intrahepatic cholestasis type 2 [RCV001130738]	uncertain significance	2	168923306	168923306	Human	1	name
38459130	CV960454	single nucleotide variant	NM_003742.4(ABCB11):c.98+1G>A	not provided [RCV001246457]	likely pathogenic	2	169016777	169016777	Human		name
127233367	CV1068322	single nucleotide variant	NM_003742.4(ABCB11):c.611+8G>A	not provided [RCV001396089]	likely benign	2	168995341	168995341	Human		name
127235043	CV1090039	single nucleotide variant	NM_003742.4(ABCB11):c.783+8T>C	not provided [RCV001433016]	likely benign	2	168993703	168993703	Human		name
127286012	CV1132437	single nucleotide variant	NM_003742.4(ABCB11):c.98+10T>G	not provided [RCV001493983]	likely benign	2	169016768	169016768	Human		name
150493564	CV1282049	single nucleotide variant	NM_003742.4(ABCB11):c.98+83C>T	not provided [RCV001717034]	benign	2	169016695	169016695	Human		name
151882551	CV1443240	single nucleotide variant	NM_003742.4(ABCB11):c.150+2T>C	Progressive familial intrahepatic cholestasis type 2 [RCV005253902]\|not provided [RCV002037162]	pathogenic\|likely pathogenic	2	169014301	169014301	Human	1	name
151729250	CV1517638	single nucleotide variant	NM_003742.4(ABCB11):c.611+1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV003475303]\|Progressive familial intrahepatic cholestasis type 2 [RCV002052254]\|not provided [RCV002551233]	pathogenic	2	168995348	168995348	Human	2	name
152097539	CV1531518	single nucleotide variant	NM_003742.4(ABCB11):c.784-4T>C	not provided [RCV002213567]	likely benign	2	168990929	168990929	Human		name
152173908	CV1567372	single nucleotide variant	NM_003742.4(ABCB11):c.612-8G>T	not provided [RCV002144267]	likely benign	2	168993890	168993890	Human		name
152169263	CV1636976	single nucleotide variant	NM_003742.4(ABCB11):c.477+9C>T	not provided [RCV002182733]	likely benign	2	168996626	168996626	Human		name
152167926	CV1644923	single nucleotide variant	NM_003742.4(ABCB11):c.611+8G>C	not provided [RCV002142282]	likely benign	2	168995341	168995341	Human		name
152076122	CV1653385	single nucleotide variant	NM_003742.4(ABCB11):c.611+7A>G	not provided [RCV002075757]	likely benign	2	168995342	168995342	Human		name
155266028	CV1704916	single nucleotide variant	NM_003742.4(ABCB11):c.151-9T>G	Progressive familial intrahepatic cholestasis type 2 [RCV002285215]	likely pathogenic	2	169013519	169013519	Human	1	name
156404162	CV1920331	single nucleotide variant	NM_003742.4(ABCB11):c.77-20T>C	not provided [RCV002606038]	likely benign	2	169016819	169016819	Human		name
156317294	CV2071119	single nucleotide variant	NM_003742.4(ABCB11):c.783+9G>A	not provided [RCV002834480]	likely benign	2	168993702	168993702	Human		name
155973854	CV2088601	single nucleotide variant	NM_003742.4(ABCB11):c.477+1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV004571398]\|not provided [RCV002863443]	likely pathogenic	2	168996634	168996634	Human	1	name
155962090	CV2089131	single nucleotide variant	NM_003742.4(ABCB11):c.784-7T>C	not provided [RCV002881071]	likely benign	2	168990932	168990932	Human		name
8559428	CV21630	deletion	NM_003742.4(ABCB11):c.908+1del	Progressive familial intrahepatic cholestasis type 2 [RCV000006970]	pathogenic	2	168990800	168990800	Human	1	name
8597185	CV21632	single nucleotide variant	NM_003742.4(ABCB11):c.150+3A>C	Benign recurrent intrahepatic cholestasis type 2 [RCV002482836]\|Progressive familial intrahepatic cholestasis type 2 [RCV000006972]\|not provided [RCV003555949]	pathogenic\|likely pathogenic	2	169014300	169014300	Human	2	name
156319052	CV2165709	single nucleotide variant	NM_003742.4(ABCB11):c.478-9C>A	not provided [RCV003029039]	likely benign	2	168995491	168995491	Human		name
156167495	CV2190114	single nucleotide variant	NM_003742.4(ABCB11):c.909-8C>G	not provided [RCV003040926]	likely benign	2	168986292	168986292	Human		name
11545822	CV250369	single nucleotide variant	NM_003742.4(ABCB11):c.389+8G>A	Progressive familial intrahepatic cholestasis type 2 [RCV000370964]\|not provided [RCV001515640]\|not specified [RCV000245656]	benign\|likely benign	2	169013264	169013264	Human	1	name
11549188	CV250372	single nucleotide variant	NM_003742.4(ABCB11):c.99-18T>C	Benign recurrent intrahepatic cholestasis type 2 [RCV001543206]\|Progressive familial intrahepatic cholestasis type 2 [RCV001543207]\|not provided [RCV002519919]\|not specified [RCV000250086]	benign	2	169014372	169014372	Human	2	name
11578261	CV269651	single nucleotide variant	NM_003742.4(ABCB11):c.908+1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV005016673]\|not provided [RCV000277672]	pathogenic	2	168990800	168990800	Human	1	name
11633082	CV272603	single nucleotide variant	NM_003742.4(ABCB11):c.150+1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV004567834]\|not provided [RCV000311661]	pathogenic\|likely pathogenic	2	169014302	169014302	Human	1	name
404977208	CV2848872	duplication	NM_003742.4(ABCB11):c.611+2dup	Progressive familial intrahepatic cholestasis type 2 [RCV003485988]	pathogenic\|conflicting interpretations of pathogenicity	2	168995346	168995347	Human	1	name
402477007	CV2853613	single nucleotide variant	NM_003742.4(ABCB11):c.784-1G>C	not provided [RCV003543541]	likely pathogenic	2	168990926	168990926	Human		name
405076394	CV2869506	single nucleotide variant	NM_003742.4(ABCB11):c.151-2A>G	not provided [RCV003548838]	likely pathogenic	2	169013512	169013512	Human		name
405148447	CV2891788	deletion	NM_003742.4(ABCB11):c.76+15del	not provided [RCV003561548]	benign	2	169018035	169018035	Human		name
402508067	CV2924433	single nucleotide variant	NM_003742.4(ABCB11):c.477+8G>C	not provided [RCV003574660]	likely benign	2	168996627	168996627	Human		name
402493254	CV2981267	single nucleotide variant	NM_003742.4(ABCB11):c.76+20C>T	not provided [RCV003713917]	likely benign	2	169018030	169018030	Human		name
402494291	CV3008589	single nucleotide variant	NM_003742.4(ABCB11):c.77-10T>C	not provided [RCV003687777]	likely benign	2	169016809	169016809	Human		name
405250621	CV3053007	single nucleotide variant	NM_003742.4(ABCB11):c.77-16T>A	not provided [RCV003721672]	likely benign	2	169016815	169016815	Human		name
405222696	CV3057133	single nucleotide variant	NM_003742.4(ABCB11):c.76+18C>A	not provided [RCV003733553]	likely benign	2	169018032	169018032	Human		name
405192518	CV3128403	single nucleotide variant	NM_003742.4(ABCB11):c.98+15T>G	not provided [RCV003821140]	likely benign	2	169016763	169016763	Human		name
405042404	CV3141220	single nucleotide variant	NM_003742.4(ABCB11):c.77-17A>G	not provided [RCV003831513]	likely benign	2	169016816	169016816	Human		name
405173926	CV3151847	single nucleotide variant	NM_003742.4(ABCB11):c.99-16A>C	not provided [RCV003857998]	likely benign	2	169014370	169014370	Human		name
402466547	CV3177718	single nucleotide variant	NM_003742.4(ABCB11):c.98+20A>G	not provided [RCV003873156]	likely benign	2	169016758	169016758	Human		name
405253594	CV3178567	single nucleotide variant	NM_003742.4(ABCB11):c.99-15T>C	not provided [RCV003871168]	likely benign	2	169014369	169014369	Human		name
405283547	CV3202706	single nucleotide variant	NM_003742.4(ABCB11):c.389+4G>A	ABCB11-related disorder [RCV003921813]	likely benign	2	169013268	169013268	Human		name , trait , alternate_id
405271634	CV3202889	single nucleotide variant	NM_003742.4(ABCB11):c.77-22C>T	ABCB11-related disorder [RCV003913951]	likely benign	2	169016821	169016821	Human		name , trait , alternate_id
405281788	CV3224384	single nucleotide variant	NM_003742.4(ABCB11):c.611+5G>A	Progressive familial intrahepatic cholestasis type 2 [RCV003988767]	uncertain significance	2	168995344	168995344	Human	1	name
405870610	CV3398948	single nucleotide variant	NM_003742.4(ABCB11):c.784-1G>T	Benign recurrent intrahepatic cholestasis type 2 [RCV004574378]	likely pathogenic	2	168990926	168990926	Human	1	name
616936408	CV3535725	single nucleotide variant	NM_003742.4(ABCB11):c.783+1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005402183]	likely pathogenic	2	168993710	168993710	Human	1	name
597760810	CV3716605	single nucleotide variant	NM_003742.4(ABCB11):c.151-1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV005018208]	likely pathogenic	2	169013511	169013511	Human	1	name
597760816	CV3716606	single nucleotide variant	NM_003742.4(ABCB11):c.76+29T>G	Benign recurrent intrahepatic cholestasis type 2 [RCV005018209]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254973]	likely pathogenic\|uncertain significance	2	169018021	169018021	Human	2	name
597876898	CV3810488	single nucleotide variant	NM_003742.4(ABCB11):c.784-4T>G	not provided [RCV005152013]	likely benign	2	168990929	168990929	Human		name
598226285	CV3893020	single nucleotide variant	NM_003742.4(ABCB11):c.909-1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005255347]	pathogenic	2	168986285	168986285	Human	1	name
598228229	CV3893024	single nucleotide variant	NM_003742.4(ABCB11):c.611+4A>G	Progressive familial intrahepatic cholestasis type 2 [RCV005255351]	uncertain significance	2	168995345	168995345	Human	1	name
598228249	CV3893027	single nucleotide variant	NM_003742.4(ABCB11):c.390-1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005255354]	pathogenic	2	168996723	168996723	Human	1	name
12901953	CV405418	deletion	NM_003742.4(ABCB11):c.77-17del	Progressive familial intrahepatic cholestasis type 2 [RCV001274998]\|not provided [RCV002525838]\|not specified [RCV000485938]	benign	2	169016816	169016816	Human	1	name
13515149	CV489226	single nucleotide variant	NM_003742.4(ABCB11):c.477+8G>T	Progressive familial intrahepatic cholestasis type 2 [RCV001135475]\|not provided [RCV000593916]	conflicting interpretations of pathogenicity\|uncertain significance	2	168996627	168996627	Human	1	name
13517651	CV490122	single nucleotide variant	NM_003742.4(ABCB11):c.389+5G>T	not provided [RCV000596702]	uncertain significance	2	169013267	169013267	Human		name
13518899	CV492968	single nucleotide variant	NM_003742.4(ABCB11):c.783+5G>A	not provided [RCV000597672]	uncertain significance	2	168993706	168993706	Human		name
13535947	CV499169	single nucleotide variant	NM_003742.4(ABCB11):c.151-9T>C	not provided [RCV001860304]\|not specified [RCV000608288]	likely benign	2	169013519	169013519	Human		name
13834155	CV585397	single nucleotide variant	NM_003742.4(ABCB11):c.390-1G>T	ABCB11-related disorder [RCV003965512]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003461004]\|not provided [RCV000729596]	pathogenic\|likely pathogenic	2	168996723	168996723	Human	2	name , alternate_id
13834383	CV585629	single nucleotide variant	NM_003742.4(ABCB11):c.477+5G>C	not provided [RCV000729880]	uncertain significance	2	168996630	168996630	Human		name
13835243	CV586500	single nucleotide variant	NM_003742.4(ABCB11):c.150+4A>C	not provided [RCV000730983]	uncertain significance	2	169014299	169014299	Human		name
13836385	CV587658	duplication	NM_003742.4(ABCB11):c.77-16dup	Benign recurrent intrahepatic cholestasis type 2 [RCV002485918]\|not provided [RCV001509714]\|not specified [RCV000732491]	benign\|likely benign	2	169016806	169016807	Human	1	name
13836494	CV587769	single nucleotide variant	NM_003742.4(ABCB11):c.908+5G>A	not provided [RCV000732626]	uncertain significance	2	168990796	168990796	Human		name
38456570	CV959597	single nucleotide variant	NM_003742.4(ABCB11):c.908+1G>T	Progressive familial intrahepatic cholestasis type 2 [RCV005253752]\|not provided [RCV001228394]	pathogenic	2	168990800	168990800	Human	1	name
38465686	CV961834	single nucleotide variant	NM_003742.4(ABCB11):c.908+1G>C	ABCB11-related disorder [RCV003898245]\|Familial intrahepatic cholestasis type 2 [RCV001250139]\|Progressive familial intrahepatic cholestasis type 2 [RCV003485693]\|not provided [RCV002570415]	pathogenic\|likely pathogenic	2	168990800	168990800	Human	1	name , alternate_id
127249376	CV1054959	single nucleotide variant	NM_003742.4(ABCB11):c.3056+1G>A	not provided [RCV001378141]	likely pathogenic	2	168935183	168935183	Human		name
127264666	CV1059090	single nucleotide variant	NM_003742.4(ABCB11):c.2178+1G>C	not provided [RCV001388259]	pathogenic	2	168964205	168964205	Human		name
127240610	CV1068291	single nucleotide variant	NM_003742.4(ABCB11):c.3213+8T>A	not provided [RCV001397802]	likely benign	2	168932369	168932369	Human		name
127252571	CV1068298	single nucleotide variant	NM_003742.4(ABCB11):c.2610+8A>G	not provided [RCV001400376]	likely benign	2	168944597	168944597	Human		name
127245103	CV1068301	single nucleotide variant	NM_003742.4(ABCB11):c.2343+8C>T	not provided [RCV001416441]	likely benign	2	168957956	168957956	Human		name
127260169	CV1068309	single nucleotide variant	NM_003742.4(ABCB11):c.1638+9A>G	not provided [RCV001402131]	likely benign	2	168971838	168971838	Human		name
127232730	CV1068310	single nucleotide variant	NM_003742.4(ABCB11):c.1198-4C>A	not provided [RCV001413594]	likely benign	2	168976691	168976691	Human		name
127258749	CV1068315	single nucleotide variant	NM_003742.4(ABCB11):c.908+10T>C	not provided [RCV001401747]	likely benign	2	168990791	168990791	Human		name
127233456	CV1090019	single nucleotide variant	NM_003742.4(ABCB11):c.2814+7T>C	not provided [RCV001421774]	likely benign	2	168936223	168936223	Human		name
127237250	CV1090020	single nucleotide variant	NM_003742.4(ABCB11):c.2610+8A>C	not provided [RCV001433502]	likely benign	2	168944597	168944597	Human		name
127253212	CV1090021	single nucleotide variant	NM_003742.4(ABCB11):c.2610+7T>C	not provided [RCV001436966]	likely benign	2	168944598	168944598	Human		name
127255858	CV1090026	single nucleotide variant	NM_003742.4(ABCB11):c.2343+9A>G	not provided [RCV001426695]	likely benign	2	168957955	168957955	Human		name
127270143	CV1090035	single nucleotide variant	NM_003742.4(ABCB11):c.1198-4C>G	not provided [RCV001441348]	likely benign	2	168976691	168976691	Human		name
127334337	CV1111510	single nucleotide variant	NM_003742.4(ABCB11):c.3411+9C>A	not provided [RCV001473514]	likely benign	2	168930656	168930656	Human		name
127310803	CV1111521	single nucleotide variant	NM_003742.4(ABCB11):c.2815-9A>G	not provided [RCV001456701]	likely benign	2	168935434	168935434	Human		name
127305506	CV1111523	single nucleotide variant	NM_003742.4(ABCB11):c.2611-8G>A	not provided [RCV001455272]	likely benign	2	168936441	168936441	Human		name
127314149	CV1111526	single nucleotide variant	NM_003742.4(ABCB11):c.2344-4C>T	not provided [RCV001457617]	likely benign	2	168944965	168944965	Human		name
127308877	CV1132406	single nucleotide variant	NM_003742.4(ABCB11):c.3765+8T>C	not provided [RCV001480711]	likely benign	2	168924649	168924649	Human		name
127333603	CV1132417	single nucleotide variant	NM_003742.4(ABCB11):c.2610+9T>A	not provided [RCV001490286]	likely benign	2	168944596	168944596	Human		name
127325356	CV1132419	single nucleotide variant	NM_003742.4(ABCB11):c.2449-9A>G	not provided [RCV001485788]	likely benign	2	168944775	168944775	Human		name
127296155	CV1132422	single nucleotide variant	NM_003742.4(ABCB11):c.2179-4C>G	not provided [RCV001497413]	likely benign	2	168958132	168958132	Human		name
127317565	CV1132424	single nucleotide variant	NM_003742.4(ABCB11):c.1809+8G>A	not provided [RCV001483187]	likely benign	2	168970037	168970037	Human		name
127298486	CV1132426	single nucleotide variant	NM_003742.4(ABCB11):c.1639-4C>G	not provided [RCV001498079]	likely benign	2	168970219	168970219	Human		name
150502570	CV1212266	deletion	NM_003742.4(ABCB11):c.390-83del	not provided [RCV001595139]	benign	2	168996805	168996805	Human		name
150480204	CV1221924	single nucleotide variant	NM_003742.4(ABCB11):c.389+90C>G	not provided [RCV001616720]	benign	2	169013182	169013182	Human		name
150502327	CV1223178	single nucleotide variant	NM_003742.4(ABCB11):c.-27-50G>A	not provided [RCV001621111]	benign	2	169018202	169018202	Human		name
150482728	CV1223472	single nucleotide variant	NM_003742.4(ABCB11):c.909-31C>T	not provided [RCV001617185]	benign	2	168986315	168986315	Human		name
150488703	CV1237522	deletion	NM_003742.4(ABCB11):c.390-89del	not provided [RCV001654371]	benign	2	168996811	168996811	Human		name
150509279	CV1247267	single nucleotide variant	NM_003742.4(ABCB11):c.390-91A>T	not provided [RCV001659294]	benign	2	168996813	168996813	Human		name
150479699	CV1282363	single nucleotide variant	NM_003742.4(ABCB11):c.909-69C>T	not provided [RCV001714509]	benign	2	168986353	168986353	Human		name
150535053	CV1311758	single nucleotide variant	NM_003742.4(ABCB11):c.784-87T>A	not provided [RCV001779568]	likely benign	2	168991012	168991012	Human		name
151738444	CV1458268	single nucleotide variant	NM_003742.4(ABCB11):c.3618+8C>T	not provided [RCV001946857]	likely benign	2	168927148	168927148	Human		name
151837140	CV1468015	single nucleotide variant	NM_003742.4(ABCB11):c.2343+2T>C	Progressive familial intrahepatic cholestasis type 2 [RCV005253982]\|not provided [RCV001956300]	pathogenic\|likely pathogenic	2	168957962	168957962	Human	1	name
151868972	CV1514654	single nucleotide variant	NM_003742.4(ABCB11):c.1083+2T>C	not provided [RCV001998082]	likely pathogenic	2	168986108	168986108	Human		name
152155066	CV1520169	deletion	NM_003742.4(ABCB11):c.1638+8del	not provided [RCV002140069]	likely benign	2	168971839	168971839	Human		name
152112128	CV1532172	single nucleotide variant	NM_003742.4(ABCB11):c.3411+9C>G	not provided [RCV002116686]	likely benign	2	168930656	168930656	Human		name
152059501	CV1536103	single nucleotide variant	NM_003742.4(ABCB11):c.3214-9C>T	not provided [RCV002146607]	likely benign	2	168930871	168930871	Human		name
152111934	CV1539153	single nucleotide variant	NM_003742.4(ABCB11):c.3766-4G>A	not provided [RCV002080371]	likely benign	2	168923826	168923826	Human		name
152108665	CV1550831	single nucleotide variant	NM_003742.4(ABCB11):c.1434+9C>T	not provided [RCV002152750]	likely benign	2	168973706	168973706	Human		name
152149016	CV1552120	single nucleotide variant	NM_003742.4(ABCB11):c.1083+8G>C	not provided [RCV002157883]	likely benign	2	168986102	168986102	Human		name
152035910	CV1553097	single nucleotide variant	NM_003742.4(ABCB11):c.3056+8A>T	not provided [RCV002187482]	likely benign	2	168935176	168935176	Human		name
152069493	CV1569945	deletion	NM_003742.4(ABCB11):c.1197+8del	not provided [RCV002191590]	likely benign	2	168979858	168979858	Human		name
152150523	CV1598123	single nucleotide variant	NM_003742.4(ABCB11):c.1810-5T>G	not provided [RCV002121676]	likely benign	2	168969556	168969556	Human		name
152035384	CV1604149	single nucleotide variant	NM_003742.4(ABCB11):c.1198-5T>C	not provided [RCV002087122]	likely benign	2	168976692	168976692	Human		name
152161554	CV1606178	single nucleotide variant	NM_003742.4(ABCB11):c.3619-9T>C	not provided [RCV002181022]	likely benign	2	168924812	168924812	Human		name
152139847	CV1613756	single nucleotide variant	NM_003742.4(ABCB11):c.3214-7T>C	not provided [RCV002084013]	likely benign	2	168930869	168930869	Human		name
152140422	CV1613849	single nucleotide variant	NM_003742.4(ABCB11):c.2178+9C>T	not provided [RCV002084081]	likely benign	2	168964197	168964197	Human		name
152075550	CV1616726	single nucleotide variant	NM_003742.4(ABCB11):c.2815-7T>C	not provided [RCV002210544]	likely benign	2	168935432	168935432	Human		name
152036459	CV1617640	single nucleotide variant	NM_003742.4(ABCB11):c.1309-5T>C	not provided [RCV002125411]	likely benign	2	168973845	168973845	Human		name
152073762	CV1657655	single nucleotide variant	NM_003742.4(ABCB11):c.2611-4G>A	not provided [RCV002210320]	likely benign	2	168936437	168936437	Human		name
152982304	CV1677248	single nucleotide variant	NM_003742.4(ABCB11):c.2179-1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV002248954]	likely pathogenic	2	168958129	168958129	Human	1	name
152982306	CV1677249	single nucleotide variant	NM_003742.4(ABCB11):c.2076-1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV002248955]	likely pathogenic	2	168964309	168964309	Human	1	name
153002388	CV1685507	single nucleotide variant	NM_003742.4(ABCB11):c.390-89A>T	not provided [RCV002259494]	likely benign	2	168996811	168996811	Human		name
155266026	CV1704914	single nucleotide variant	NM_003742.4(ABCB11):c.2075+3A>G	Progressive familial intrahepatic cholestasis type 2 [RCV002285213]	pathogenic	2	168968424	168968424	Human	1	name
156355968	CV1880327	single nucleotide variant	NM_003742.4(ABCB11):c.2012-8T>C	not provided [RCV003065240]	uncertain significance	2	168968498	168968498	Human		name
156410042	CV1891964	single nucleotide variant	NM_003742.4(ABCB11):c.3618+8C>G	not provided [RCV003071913]	likely benign	2	168927148	168927148	Human		name
156411409	CV1893173	single nucleotide variant	NM_003742.4(ABCB11):c.2814+5T>A	not provided [RCV003072466]	uncertain significance	2	168936225	168936225	Human		name
156363035	CV1895437	single nucleotide variant	NM_003742.4(ABCB11):c.2011+1G>C	Benign recurrent intrahepatic cholestasis type 2 [RCV005021554]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254703]\|not provided [RCV003091842]	likely pathogenic\|uncertain significance	2	168969349	168969349	Human	2	name
155955772	CV1936327	single nucleotide variant	NM_003742.4(ABCB11):c.2012-2A>G	not provided [RCV002511991]	pathogenic	2	168968492	168968492	Human		name
156061227	CV1979012	single nucleotide variant	NM_003742.4(ABCB11):c.3213+7G>A	not provided [RCV002590984]	likely benign	2	168932370	168932370	Human		name
156398286	CV1990840	duplication	NM_003742.4(ABCB11):c.3619-4dup	not provided [RCV002605356]	benign	2	168924806	168924807	Human		name
156175096	CV2051950	single nucleotide variant	NM_003742.4(ABCB11):c.1198-2A>C	Benign recurrent intrahepatic cholestasis type 2 [RCV003465839]\|not provided [RCV002828116]	likely pathogenic	2	168976689	168976689	Human	1	name
156087987	CV2060668	single nucleotide variant	NM_003742.4(ABCB11):c.1308+7G>A	not provided [RCV002824079]	likely benign	2	168976570	168976570	Human		name
155916245	CV2063172	single nucleotide variant	NM_003742.4(ABCB11):c.1435-1G>A	not provided [RCV002838076]	likely pathogenic	2	168972051	168972051	Human		name
156302121	CV2146297	deletion	NM_003742.4(ABCB11):c.2814+1del	not provided [RCV003028144]	pathogenic	2	168936229	168936229	Human		name
156279309	CV2164610	single nucleotide variant	NM_003742.4(ABCB11):c.2448+9T>C	not provided [RCV003027262]	likely benign	2	168944848	168944848	Human		name
156279050	CV2188560	single nucleotide variant	NM_003742.4(ABCB11):c.2076-9T>C	not provided [RCV003044718]	likely benign	2	168964317	168964317	Human		name
243052627	CV2417957	single nucleotide variant	NM_003742.4(ABCB11):c.1434+5G>A	Progressive familial intrahepatic cholestasis type 2 [RCV003153022]	uncertain significance	2	168973710	168973710	Human	1	name
11549194	CV250364	single nucleotide variant	NM_003742.4(ABCB11):c.909-15A>G	Benign recurrent intrahepatic cholestasis type 2 [RCV001542953]\|Progressive familial intrahepatic cholestasis type 2 [RCV000340540]\|not provided [RCV002058145]\|not specified [RCV000250098]	benign	2	168986299	168986299	Human	2	name
11543139	CV250365	single nucleotide variant	NM_003742.4(ABCB11):c.909-17G>A	not provided [RCV002518626]\|not specified [RCV000242059]	benign	2	168986301	168986301	Human		name
11551812	CV250367	single nucleotide variant	NM_003742.4(ABCB11):c.477+16G>A	not provided [RCV002518625]\|not specified [RCV000253533]	benign	2	168996619	168996619	Human		name
11639601	CV268530	single nucleotide variant	NM_003742.4(ABCB11):c.3411+9C>T	ABCB11-related disorder [RCV003957422]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005396879]\|Progressive familial intrahepatic cholestasis type 2 [RCV001135196]\|not provided [RCV000322696]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168930656	168930656	Human	2	name , alternate_id
11580624	CV268874	single nucleotide variant	NM_003742.4(ABCB11):c.2012-8T>G	ABCB11-related disorder [RCV003401248]\|Benign recurrent intrahepatic cholestasis type 2 [RCV000763464]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003463756]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003555]\|Progressive familial intrahepatic cho ... (more) lestasis [RCV003492026]\|Progressive familial intrahepatic cholestasis type 2 [RCV000779283]\|not provided [RCV000339283]	pathogenic\|likely pathogenic	2	168968498	168968498	Human	5	name , alternate_id
11654669	CV282625	single nucleotide variant	NM_003742.4(ABCB11):c.1197+2T>C	Progressive familial intrahepatic cholestasis type 2 [RCV000319513]	uncertain significance	2	168979864	168979864	Human		name
401946183	CV2833634	single nucleotide variant	NM_003742.4(ABCB11):c.2178+1G>T	Benign recurrent intrahepatic cholestasis type 2 [RCV003464969]\|not provided [RCV003553983]	pathogenic	2	168964205	168964205	Human	1	name
11660580	CV283385	single nucleotide variant	NM_003742.4(ABCB11):c.1638+6C>G	Progressive familial intrahepatic cholestasis type 2 [RCV000368264]	uncertain significance	2	168971841	168971841	Human	1	name
401949843	CV2837180	single nucleotide variant	NM_003742.4(ABCB11):c.2011+1G>T	Benign recurrent intrahepatic cholestasis type 2 [RCV003475714]\|not provided [RCV003779163]	likely pathogenic	2	168969349	168969349	Human	1	name
401941061	CV2838746	single nucleotide variant	NM_003742.4(ABCB11):c.2815-2A>G	Benign recurrent intrahepatic cholestasis type 2 [RCV003460306]	likely pathogenic	2	168935427	168935427	Human	1	name
401941075	CV2838788	single nucleotide variant	NM_003742.4(ABCB11):c.1198-1G>C	Benign recurrent intrahepatic cholestasis type 2 [RCV003460321]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254805]	pathogenic	2	168976688	168976688	Human	2	name
401941134	CV2838847	single nucleotide variant	NM_003742.4(ABCB11):c.2343+1G>C	Benign recurrent intrahepatic cholestasis type 2 [RCV003460380]	likely pathogenic	2	168957963	168957963	Human	1	name
11594343	CV285432	single nucleotide variant	NM_003742.4(ABCB11):c.2075+7T>A	Progressive familial intrahepatic cholestasis type 2 [RCV000358126]\|not provided [RCV001453843]	likely benign\|uncertain significance	2	168968420	168968420	Human	1	name
402512837	CV2855303	single nucleotide variant	NM_003742.4(ABCB11):c.2449-7G>A	not provided [RCV003547164]	likely benign	2	168944773	168944773	Human		name
402483745	CV2857461	single nucleotide variant	NM_003742.4(ABCB11):c.2449-1G>A	not provided [RCV003544277]	likely pathogenic	2	168944767	168944767	Human		name
405045128	CV2859884	single nucleotide variant	NM_003742.4(ABCB11):c.2076-4A>G	not provided [RCV003579396]	likely benign	2	168964312	168964312	Human		name
405209187	CV2870634	single nucleotide variant	NM_003742.4(ABCB11):c.783+13T>C	not provided [RCV003552295]	likely benign	2	168993698	168993698	Human		name
405211992	CV2878552	single nucleotide variant	NM_003742.4(ABCB11):c.908+20A>G	not provided [RCV003552733]	likely benign	2	168990781	168990781	Human		name
405228620	CV2894622	single nucleotide variant	NM_003742.4(ABCB11):c.909-16C>T	not provided [RCV003555113]	likely benign	2	168986300	168986300	Human		name
405140806	CV2900875	single nucleotide variant	NM_003742.4(ABCB11):c.477+18A>G	not provided [RCV003560832]	likely benign	2	168996617	168996617	Human		name
405111827	CV2903323	single nucleotide variant	NM_003742.4(ABCB11):c.611+20G>A	not provided [RCV003557992]	likely benign	2	168995329	168995329	Human		name
402471196	CV2904327	single nucleotide variant	NM_003742.4(ABCB11):c.3214-4A>G	not provided [RCV003570458]	likely benign	2	168930866	168930866	Human		name
405164599	CV2905700	single nucleotide variant	NM_003742.4(ABCB11):c.477+15C>T	not provided [RCV003562637]	likely benign	2	168996620	168996620	Human		name
402478602	CV2909960	single nucleotide variant	NM_003742.4(ABCB11):c.151-16C>A	not provided [RCV003571823]	likely benign	2	169013526	169013526	Human		name
405216820	CV2911371	single nucleotide variant	NM_003742.4(ABCB11):c.3619-7T>C	not provided [RCV003567822]	likely benign	2	168924810	168924810	Human		name
402506724	CV2924116	single nucleotide variant	NM_003742.4(ABCB11):c.909-20C>A	not provided [RCV003574532]	likely benign	2	168986304	168986304	Human		name
405060619	CV2929244	single nucleotide variant	NM_003742.4(ABCB11):c.784-19T>C	not provided [RCV003580444]	likely benign	2	168990944	168990944	Human		name
405013825	CV2930279	single nucleotide variant	NM_003742.4(ABCB11):c.2075+9A>G	not provided [RCV003576967]	likely benign	2	168968418	168968418	Human		name
405232290	CV2985272	single nucleotide variant	NM_003742.4(ABCB11):c.1198-7A>T	not provided [RCV003711720]	likely benign	2	168976694	168976694	Human		name
402508047	CV2989103	single nucleotide variant	NM_003742.4(ABCB11):c.2610+9T>C	not provided [RCV003689258]	likely benign	2	168944596	168944596	Human		name
404983484	CV2989729	single nucleotide variant	NM_003742.4(ABCB11):c.784-16T>C	not provided [RCV003691555]	likely benign	2	168990941	168990941	Human		name
402518156	CV2992303	single nucleotide variant	NM_003742.4(ABCB11):c.478-13T>C	not provided [RCV003690019]	likely benign	2	168995495	168995495	Human		name
405117164	CV2992942	single nucleotide variant	NM_003742.4(ABCB11):c.783+17G>C	not provided [RCV003723485]	likely benign	2	168993694	168993694	Human		name
404979934	CV3009756	single nucleotide variant	NM_003742.4(ABCB11):c.3214-8A>T	not provided [RCV003691055]	likely benign	2	168930870	168930870	Human		name
404977351	CV3015245	single nucleotide variant	NM_003742.4(ABCB11):c.478-12G>A	not provided [RCV003690611]	likely benign	2	168995494	168995494	Human		name
405175024	CV3023541	single nucleotide variant	NM_003742.4(ABCB11):c.3057-7G>T	not provided [RCV003705015]	likely benign	2	168932540	168932540	Human		name
405093904	CV3026126	single nucleotide variant	NM_003742.4(ABCB11):c.3766-8C>T	not provided [RCV003699850]	likely benign	2	168923830	168923830	Human		name
405253179	CV3044326	single nucleotide variant	NM_003742.4(ABCB11):c.150+12G>C	not provided [RCV003722449]	likely benign	2	169014291	169014291	Human		name
405253664	CV3048343	single nucleotide variant	NM_003742.4(ABCB11):c.151-16C>T	not provided [RCV003722635]	likely benign	2	169013526	169013526	Human		name
405131011	CV3051069	single nucleotide variant	NM_003742.4(ABCB11):c.151-15C>A	not provided [RCV003724827]	likely benign	2	169013525	169013525	Human		name
405204981	CV3057963	single nucleotide variant	NM_003742.4(ABCB11):c.612-17A>G	not provided [RCV003731108]	likely benign	2	168993899	168993899	Human		name
405205710	CV3068061	single nucleotide variant	NM_003742.4(ABCB11):c.1810-4A>G	not provided [RCV003731226]	likely benign	2	168969555	168969555	Human		name
405230223	CV3070145	single nucleotide variant	NM_003742.4(ABCB11):c.389+16T>G	not provided [RCV003734768]	likely benign	2	169013256	169013256	Human		name
405034540	CV3072433	single nucleotide variant	NM_003742.4(ABCB11):c.611+11G>A	not provided [RCV003739406]	likely benign	2	168995338	168995338	Human		name
405243059	CV3074654	single nucleotide variant	NM_003742.4(ABCB11):c.150+14G>A	not provided [RCV003737711]	likely benign	2	169014289	169014289	Human		name
405033228	CV3075151	single nucleotide variant	NM_003742.4(ABCB11):c.150+18A>T	not provided [RCV003739305]	likely benign	2	169014285	169014285	Human		name
405115173	CV3119183	single nucleotide variant	NM_003742.4(ABCB11):c.151-10G>A	not provided [RCV003814219]	likely benign	2	169013520	169013520	Human		name
405084673	CV3121890	single nucleotide variant	NM_003742.4(ABCB11):c.151-15C>G	not provided [RCV003810645]	likely benign	2	169013525	169013525	Human		name
405178445	CV3147017	single nucleotide variant	NM_003742.4(ABCB11):c.390-18C>A	not provided [RCV003842113]	likely benign	2	168996740	168996740	Human		name
405053699	CV3151265	single nucleotide variant	NM_003742.4(ABCB11):c.3057-4A>G	not provided [RCV003849674]	likely benign	2	168932537	168932537	Human		name
405173986	CV3151936	single nucleotide variant	NM_003742.4(ABCB11):c.783+17G>T	not provided [RCV003858087]	likely benign	2	168993694	168993694	Human		name
405247418	CV3158790	single nucleotide variant	NM_003742.4(ABCB11):c.1308+7G>T	not provided [RCV003869132]	likely benign	2	168976570	168976570	Human		name
405206616	CV3162006	single nucleotide variant	NM_003742.4(ABCB11):c.3412-8A>T	not provided [RCV003861500]	likely benign	2	168927370	168927370	Human		name
405255345	CV3172326	single nucleotide variant	NM_003742.4(ABCB11):c.1435-5T>C	not provided [RCV003872264]	likely benign	2	168972055	168972055	Human		name
405274577	CV3208915	single nucleotide variant	NM_003742.4(ABCB11):c.3056+3G>A	ABCB11-related disorder [RCV003951700]	likely benign	2	168935181	168935181	Human		name , trait , alternate_id
12836732	CV365689	single nucleotide variant	NM_003742.4(ABCB11):c.3618+9G>A	not provided [RCV001440160]\|not specified [RCV000423916]	likely benign	2	168927147	168927147	Human		name
597835479	CV3770646	single nucleotide variant	NM_003742.4(ABCB11):c.1197+4T>C	not provided [RCV005106295]	uncertain significance	2	168979862	168979862	Human		name
597841304	CV3772712	single nucleotide variant	NM_003742.4(ABCB11):c.150+18A>C	not provided [RCV005115862]	likely benign	2	169014285	169014285	Human		name
597847914	CV3775997	single nucleotide variant	NM_003742.4(ABCB11):c.1810-8T>A	not provided [RCV005123524]	likely benign	2	168969559	168969559	Human		name
597871992	CV3817679	single nucleotide variant	NM_003742.4(ABCB11):c.390-12C>G	not provided [RCV005146865]	likely benign	2	168996734	168996734	Human		name
597907759	CV3830091	single nucleotide variant	NM_003742.4(ABCB11):c.150+12G>T	not provided [RCV005182661]	likely benign	2	169014291	169014291	Human		name
597928312	CV3856411	single nucleotide variant	NM_003742.4(ABCB11):c.612-17A>C	not provided [RCV005202639]	likely benign	2	168993899	168993899	Human		name
598226045	CV3892984	single nucleotide variant	NM_003742.4(ABCB11):c.3213+5G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005255311]	uncertain significance	2	168932372	168932372	Human	1	name
598226079	CV3892989	single nucleotide variant	NM_003742.4(ABCB11):c.2815-8A>G	Progressive familial intrahepatic cholestasis type 2 [RCV005255316]	pathogenic	2	168935433	168935433	Human	1	name
598226114	CV3892994	single nucleotide variant	NM_003742.4(ABCB11):c.2611-2A>T	Progressive familial intrahepatic cholestasis type 2 [RCV005255321]	uncertain significance	2	168936435	168936435	Human	1	name
598226149	CV3892999	single nucleotide variant	NM_003742.4(ABCB11):c.2179-2A>G	Progressive familial intrahepatic cholestasis type 2 [RCV005255326]	pathogenic	2	168958130	168958130	Human	1	name
598226234	CV3893012	single nucleotide variant	NM_003742.4(ABCB11):c.1197+1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005255339]	uncertain significance	2	168979865	168979865	Human	1	name
598226251	CV3893015	single nucleotide variant	NM_003742.4(ABCB11):c.1084-2A>G	Progressive familial intrahepatic cholestasis type 2 [RCV005255342]	pathogenic	2	168979981	168979981	Human	1	name
598217123	CV3895304	single nucleotide variant	NM_003742.4(ABCB11):c.3412-1G>T	Benign recurrent intrahepatic cholestasis type 2 [RCV005360196]	likely pathogenic	2	168927363	168927363	Human	1	name
13515165	CV491945	single nucleotide variant	NM_003742.4(ABCB11):c.2011+3A>C	not provided [RCV000593940]	uncertain significance	2	168969347	168969347	Human		name
13517643	CV492375	single nucleotide variant	NM_003742.4(ABCB11):c.1810-1G>A	Progressive familial intrahepatic cholestasis type 2 [RCV005252985]\|not provided [RCV000596690]	pathogenic\|likely pathogenic	2	168969552	168969552	Human	1	name
13523091	CV492966	single nucleotide variant	NM_003742.4(ABCB11):c.2075+5G>A	not provided [RCV000592562]	uncertain significance	2	168968422	168968422	Human		name
13541737	CV499145	single nucleotide variant	NM_003742.4(ABCB11):c.2449-9A>C	ABCB11-related disorder [RCV003892351]\|not provided [RCV000908970]\|not specified [RCV000616576]	likely benign	2	168944775	168944775	Human	1	name , alternate_id
13538072	CV499155	single nucleotide variant	NM_003742.4(ABCB11):c.2011+8C>G	not provided [RCV001394682]\|not specified [RCV000611303]	likely benign	2	168969342	168969342	Human		name
13532394	CV511358	deletion	NM_003742.4(ABCB11):c.3213+1del	Inborn genetic diseases [RCV000624156]\|not provided [RCV001390801]	pathogenic	2	168932376	168932376	Human	1	name
13833877	CV585117	single nucleotide variant	NM_003742.4(ABCB11):c.3214-6C>G	ABCB11-related disorder [RCV003420291]\|not provided [RCV000729263]	conflicting interpretations of pathogenicity\|uncertain significance	2	168930868	168930868	Human	1	name , alternate_id
13834558	CV585807	single nucleotide variant	NM_003742.4(ABCB11):c.3214-7T>A	not provided [RCV000730107]	uncertain significance	2	168930869	168930869	Human		name
13836408	CV587681	single nucleotide variant	NM_003742.4(ABCB11):c.2178+1G>A	ABCB11-related disorder [RCV004742622]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002485920]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003461009]\|Progressive familial intrahepatic cholestasis type 2 [RCV001729696]\|not provided [RCV000732522]	pathogenic	2	168964205	168964205	Human	2	name , alternate_id
13837231	CV588517	single nucleotide variant	NM_003742.4(ABCB11):c.3412-7T>C	ABCB11-related disorder [RCV003892661]\|not provided [RCV000733581]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168927369	168927369	Human	1	name , alternate_id
15191014	CV743837	single nucleotide variant	NM_003742.4(ABCB11):c.1639-4C>T	ABCB11-related disorder [RCV004743186]\|Progressive familial intrahepatic cholestasis type 2 [RCV001276308]\|not provided [RCV000910122]	likely benign\|uncertain significance	2	168970219	168970219	Human	1	name , alternate_id
15173755	CV774625	single nucleotide variant	NM_003742.4(ABCB11):c.3214-8A>G	not provided [RCV000928357]	likely benign	2	168930870	168930870	Human		name
15189077	CV774627	single nucleotide variant	NM_003742.4(ABCB11):c.2179-5T>C	not provided [RCV000932134]	likely benign	2	168958133	168958133	Human		name
15129374	CV774629	single nucleotide variant	NM_003742.4(ABCB11):c.1639-7C>T	not provided [RCV000941871]	likely benign	2	168970222	168970222	Human		name
15137911	CV787069	deletion	NM_003742.4(ABCB11):c.3619-4del	not provided [RCV000982382]	benign	2	168924807	168924807	Human		name
15117611	CV787108	single nucleotide variant	NM_003742.4(ABCB11):c.1435-9G>T	not provided [RCV000978797]	likely benign	2	168972059	168972059	Human		name
15135672	CV787109	single nucleotide variant	NM_003742.4(ABCB11):c.1198-7A>C	Progressive familial intrahepatic cholestasis type 2 [RCV001276312]\|not provided [RCV000981967]	likely benign\|uncertain significance	2	168976694	168976694	Human	1	name
15140843	CV787236	single nucleotide variant	NM_003742.4(ABCB11):c.1638+7C>T	not provided [RCV000982882]	likely benign	2	168971840	168971840	Human		name
21404636	CV801232	single nucleotide variant	NM_003742.4(ABCB11):c.2075+2T>C	Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003554]\|Progressive familial intrahepatic cholestasis [RCV002298815]	likely pathogenic	2	168968425	168968425	Human	2	name
26915602	CV851356	single nucleotide variant	NM_003742.4(ABCB11):c.2343+1G>T	ABCB11-related disorder [RCV003983825]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005029590]\|Progressive familial intrahepatic cholestasis type 2 [RCV001274996]\|not provided [RCV001039189]	pathogenic\|likely pathogenic	2	168957963	168957963	Human	2	name , alternate_id
38495035	CV959596	single nucleotide variant	NM_003742.4(ABCB11):c.3412-1G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV005014261]\|not provided [RCV001225462]	likely pathogenic	2	168927363	168927363	Human	1	name
38465693	CV961832	single nucleotide variant	NM_003742.4(ABCB11):c.2178+2T>C	Familial intrahepatic cholestasis type 2 [RCV001250140]\|Progressive familial intrahepatic cholestasis type 2 [RCV003485694]	pathogenic\|likely pathogenic	2	168964204	168964204	Human	1	name
40906089	CV977636	single nucleotide variant	NM_003742.4(ABCB11):c.1639-6A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001279414]\|not provided [RCV001408802]	likely benign\|uncertain significance	2	168970221	168970221	Human	1	name
127230090	CV1068287	single nucleotide variant	NM_003742.4(ABCB11):c.3619-10T>A	not provided [RCV001412342]	likely benign	2	168924813	168924813	Human		name
127319393	CV1111508	single nucleotide variant	NM_003742.4(ABCB11):c.3619-10T>C	not provided [RCV001466529]	likely benign	2	168924813	168924813	Human		name
127293284	CV1111516	single nucleotide variant	NM_003742.4(ABCB11):c.3057-10C>T	not provided [RCV001476562]	likely benign	2	168932543	168932543	Human		name
127330514	CV1132411	single nucleotide variant	NM_003742.4(ABCB11):c.3412-10C>T	not provided [RCV001488198]	likely benign	2	168927372	168927372	Human		name
127296824	CV1132420	single nucleotide variant	NM_003742.4(ABCB11):c.2343+10C>G	ABCB11-related disorder [RCV003900717]\|not provided [RCV001497613]	likely benign	2	168957954	168957954	Human	1	name , alternate_id
150331724	CV1168871	single nucleotide variant	NM_003742.4(ABCB11):c.2011+87A>C	not provided [RCV001536599]	likely benign	2	168969263	168969263	Human		name
150337280	CV1170825	single nucleotide variant	NM_003742.4(ABCB11):c.3618+99C>A	not provided [RCV001541539]	benign	2	168927057	168927057	Human		name
150338363	CV1170826	single nucleotide variant	NM_003742.4(ABCB11):c.1638+80C>T	Benign recurrent intrahepatic cholestasis type 2 [RCV001542890]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542891]\|not provided [RCV001539605]	benign	2	168971767	168971767	Human	2	name
150338825	CV1174438	single nucleotide variant	NM_003742.4(ABCB11):c.3766-34A>G	Benign recurrent intrahepatic cholestasis type 2 [RCV001543097]\|Progressive familial intrahepatic cholestasis type 2 [RCV001543098]\|not provided [RCV001712994]	benign	2	168923856	168923856	Human	2	name
150338716	CV1174440	single nucleotide variant	NM_003742.4(ABCB11):c.1638+32T>C	Benign recurrent intrahepatic cholestasis type 2 [RCV001542892]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542893]\|not provided [RCV001673156]	benign	2	168971815	168971815	Human	2	name
150338717	CV1174441	single nucleotide variant	NM_003742.4(ABCB11):c.1434+70C>T	Benign recurrent intrahepatic cholestasis type 2 [RCV001542894]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542895]\|not provided [RCV001709729]	benign	2	168973645	168973645	Human	2	name
150338718	CV1174442	single nucleotide variant	NM_003742.4(ABCB11):c.1309-93G>A	Benign recurrent intrahepatic cholestasis type 2 [RCV001542897]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542952]\|not provided [RCV001713115]	benign	2	168973933	168973933	Human	2	name
150338731	CV1174443	single nucleotide variant	NM_003742.4(ABCB11):c.908+108A>G	Benign recurrent intrahepatic cholestasis type 2 [RCV001542954]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542955]\|not provided [RCV001658266]	benign	2	168990693	168990693	Human	2	name
150461225	CV1215779	single nucleotide variant	NM_003742.4(ABCB11):c.909-107C>T	not provided [RCV001613481]	benign	2	168986391	168986391	Human		name
150485308	CV1222970	single nucleotide variant	NM_003742.4(ABCB11):c.151-275G>T	not provided [RCV001617682]	benign	2	169013785	169013785	Human		name
150514851	CV1228651	single nucleotide variant	NM_003742.4(ABCB11):c.2815-36G>A	not provided [RCV001638639]	benign	2	168935461	168935461	Human		name
150515092	CV1228728	single nucleotide variant	NM_003742.4(ABCB11):c.-28+122A>T	not provided [RCV001638717]	benign	2	169031103	169031103	Human		name
150507718	CV1229159	single nucleotide variant	NM_003742.4(ABCB11):c.783+285T>C	not provided [RCV001636030]	benign	2	168993426	168993426	Human		name
150491986	CV1238092	single nucleotide variant	NM_003742.4(ABCB11):c.3056+99A>G	not provided [RCV001654938]	benign	2	168935085	168935085	Human		name
150477467	CV1240034	single nucleotide variant	NM_003742.4(ABCB11):c.784-109A>C	not provided [RCV001652212]	benign	2	168991034	168991034	Human		name
150444140	CV1249374	single nucleotide variant	NM_003742.4(ABCB11):c.478-191T>C	not provided [RCV001666806]	benign	2	168995673	168995673	Human		name
150471697	CV1259167	single nucleotide variant	NM_003742.4(ABCB11):c.389+320T>C	not provided [RCV001684412]	benign	2	169012952	169012952	Human		name
150448770	CV1260734	single nucleotide variant	NM_003742.4(ABCB11):c.2178+98T>C	not provided [RCV001680403]	benign	2	168964108	168964108	Human		name
150497983	CV1271433	single nucleotide variant	NM_003742.4(ABCB11):c.611+189C>G	not provided [RCV001689123]	benign	2	168995160	168995160	Human		name
150486088	CV1274051	single nucleotide variant	NM_003742.4(ABCB11):c.784-323A>C	not provided [RCV001698868]	benign	2	168991248	168991248	Human		name
150478725	CV1282050	single nucleotide variant	NM_003742.4(ABCB11):c.783+126T>A	not provided [RCV001714345]	benign	2	168993585	168993585	Human		name
150498925	CV1282359	single nucleotide variant	NM_003742.4(ABCB11):c.478-129G>A	not provided [RCV001718102]	benign	2	168995611	168995611	Human		name
150501138	CV1284117	single nucleotide variant	NM_003742.4(ABCB11):c.2178+97A>G	not provided [RCV001718540]	benign	2	168964109	168964109	Human		name
150505461	CV1286195	single nucleotide variant	NM_003742.4(ABCB11):c.1809+86G>A	not provided [RCV001719620]	benign	2	168969959	168969959	Human		name
150535075	CV1311766	single nucleotide variant	NM_003742.4(ABCB11):c.2012-89T>C	not provided [RCV001779576]	likely benign	2	168968579	168968579	Human		name
150548379	CV1316283	single nucleotide variant	NM_003742.4(ABCB11):c.2611-25G>A	not provided [RCV001786084]	likely benign	2	168936458	168936458	Human		name
150548740	CV1316498	single nucleotide variant	NM_003742.4(ABCB11):c.3057-34C>T	not provided [RCV001786300]	likely benign	2	168932567	168932567	Human		name
152144018	CV1543071	single nucleotide variant	NM_003742.4(ABCB11):c.1084-10T>G	not provided [RCV002178445]	likely benign	2	168979989	168979989	Human		name
152128696	CV1554449	single nucleotide variant	NM_003742.4(ABCB11):c.3214-10C>G	not provided [RCV002176504]	likely benign	2	168930872	168930872	Human		name
152144180	CV1576331	single nucleotide variant	NM_003742.4(ABCB11):c.2815-10C>T	not provided [RCV002101201]	likely benign	2	168935435	168935435	Human		name
152107537	CV1581921	single nucleotide variant	NM_003742.4(ABCB11):c.2343+10C>T	not provided [RCV002079808]	likely benign	2	168957954	168957954	Human		name
152035864	CV1590503	single nucleotide variant	NM_003742.4(ABCB11):c.2814+10C>T	not provided [RCV002205563]	likely benign	2	168936220	168936220	Human		name
152076575	CV1632733	single nucleotide variant	NM_003742.4(ABCB11):c.3213+10G>A	not provided [RCV002169996]	likely benign	2	168932367	168932367	Human		name
152107849	CV1634698	single nucleotide variant	NM_003742.4(ABCB11):c.1810-10A>G	not provided [RCV002079847]	likely benign	2	168969561	168969561	Human		name
152085161	CV1646639	single nucleotide variant	NM_003742.4(ABCB11):c.2178+10C>T	not provided [RCV002149826]	likely benign	2	168964196	168964196	Human		name
155645879	CV1709235	single nucleotide variant	NM_003742.4(ABCB11):c.784-177G>A	not provided [RCV002292111]	likely benign	2	168991102	168991102	Human		name
156216243	CV1869347	single nucleotide variant	NM_003742.4(ABCB11):c.3213+19T>G	not provided [RCV003058736]	likely benign	2	168932358	168932358	Human		name
156147910	CV2037471	duplication	NM_003742.4(ABCB11):c.2611-10dup	not provided [RCV002786754]	benign	2	168936442	168936443	Human		name
155935788	CV2057998	single nucleotide variant	NM_003742.4(ABCB11):c.1198-10T>G	not provided [RCV002815361]	likely benign	2	168976697	168976697	Human		name
156342058	CV2175945	single nucleotide variant	NM_003742.4(ABCB11):c.2610+17G>A	not provided [RCV003030338]	likely benign	2	168944588	168944588	Human		name
11548846	CV250357	single nucleotide variant	NM_003742.4(ABCB11):c.2610+18A>C	not provided [RCV002519918]\|not specified [RCV000249629]	likely benign	2	168944587	168944587	Human		name
11550196	CV250359	single nucleotide variant	NM_003742.4(ABCB11):c.2344-17T>C	Benign recurrent intrahepatic cholestasis type 2 [RCV001542884]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542885]\|not provided [RCV002058144]\|not specified [RCV000251426]	benign	2	168944978	168944978	Human	2	name
11547698	CV250360	single nucleotide variant	NM_003742.4(ABCB11):c.2179-17C>A	Benign recurrent intrahepatic cholestasis type 2 [RCV001542888]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542889]\|not provided [RCV002058143]\|not specified [RCV000248104]	benign	2	168958145	168958145	Human	2	name
11641789	CV272709	single nucleotide variant	NM_003742.4(ABCB11):c.3766-10C>T	Progressive familial intrahepatic cholestasis type 2 [RCV001274995]\|not provided [RCV000360354]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168923832	168923832	Human	1	name
405168497	CV2854056	single nucleotide variant	NM_003742.4(ABCB11):c.3619-12A>C	not provided [RCV003541978]	likely benign	2	168924815	168924815	Human		name
402517815	CV2856787	single nucleotide variant	NM_003742.4(ABCB11):c.3057-18G>A	not provided [RCV003575537]	likely benign	2	168932551	168932551	Human		name
405086773	CV2862277	single nucleotide variant	NM_003742.4(ABCB11):c.3214-11C>A	not provided [RCV003549619]	likely benign	2	168930873	168930873	Human		name
405018845	CV2866108	single nucleotide variant	NM_003742.4(ABCB11):c.3619-16T>C	not provided [RCV003577411]	likely benign	2	168924819	168924819	Human		name
405208715	CV2870621	single nucleotide variant	NM_003742.4(ABCB11):c.3056+13T>C	not provided [RCV003552287]	likely benign	2	168935171	168935171	Human		name
405209249	CV2870649	single nucleotide variant	NM_003742.4(ABCB11):c.1434+19C>T	not provided [RCV003552304]	likely benign	2	168973696	168973696	Human		name
405216702	CV2872527	single nucleotide variant	NM_003742.4(ABCB11):c.1638+20C>A	not provided [RCV003553287]	likely benign	2	168971827	168971827	Human		name
402500803	CV2872870	single nucleotide variant	NM_003742.4(ABCB11):c.2343+20A>G	not provided [RCV003545877]	likely benign	2	168957944	168957944	Human		name
405068599	CV2879263	single nucleotide variant	NM_003742.4(ABCB11):c.3057-14C>T	not provided [RCV003548275]	likely benign	2	168932547	168932547	Human		name
405197571	CV2880276	deletion	NM_003742.4(ABCB11):c.1639-18del	not provided [RCV003551038]	likely benign	2	168970233	168970233	Human		name
405053141	CV2893782	single nucleotide variant	NM_003742.4(ABCB11):c.1434+16A>G	not provided [RCV003579935]	likely benign	2	168973699	168973699	Human		name
405161928	CV2895243	single nucleotide variant	NM_003742.4(ABCB11):c.2343+19T>C	not provided [RCV003562457]	likely benign	2	168957945	168957945	Human		name
405231459	CV2899856	single nucleotide variant	NM_003742.4(ABCB11):c.3213+16C>T	not provided [RCV003555515]	likely benign	2	168932361	168932361	Human		name
402521323	CV2902880	single nucleotide variant	NM_003742.4(ABCB11):c.1083+20C>T	not provided [RCV003575877]	likely benign	2	168986090	168986090	Human		name
405164480	CV2905587	deletion	NM_003742.4(ABCB11):c.3619-12del	not provided [RCV003562577]	likely benign	2	168924815	168924815	Human		name
402518958	CV2906227	single nucleotide variant	NM_003742.4(ABCB11):c.3214-19T>C	not provided [RCV003575703]	likely benign	2	168930881	168930881	Human		name
405013974	CV2930305	single nucleotide variant	NM_003742.4(ABCB11):c.1638+11C>T	not provided [RCV003576978]	likely benign	2	168971836	168971836	Human		name
402469299	CV2930844	single nucleotide variant	NM_003742.4(ABCB11):c.3619-20C>T	not provided [RCV003570027]	likely benign	2	168924823	168924823	Human		name
405069202	CV2936921	single nucleotide variant	NM_003742.4(ABCB11):c.1309-13C>A	not provided [RCV003659315]	likely benign	2	168973853	168973853	Human		name
402513661	CV2943008	single nucleotide variant	NM_003742.4(ABCB11):c.1638+15A>G	not provided [RCV003662769]	likely benign	2	168971832	168971832	Human		name
405089236	CV2943368	single nucleotide variant	NM_003742.4(ABCB11):c.3214-15T>C	not provided [RCV003665083]	likely benign	2	168930877	168930877	Human		name
405067916	CV2944521	single nucleotide variant	NM_003742.4(ABCB11):c.2610+12G>A	not provided [RCV003663730]	likely benign	2	168944593	168944593	Human		name
405100494	CV2947839	single nucleotide variant	NM_003742.4(ABCB11):c.2011+16C>G	not provided [RCV003665941]	likely benign	2	168969334	168969334	Human		name
405123631	CV2954202	single nucleotide variant	NM_003742.4(ABCB11):c.3766-15A>T	not provided [RCV003667626]	likely benign	2	168923837	168923837	Human		name
405232259	CV2965136	single nucleotide variant	NM_003742.4(ABCB11):c.2343+16G>A	not provided [RCV003682456]	likely benign	2	168957948	168957948	Human		name
405189429	CV2968427	single nucleotide variant	NM_003742.4(ABCB11):c.3214-17G>A	not provided [RCV003677065]	likely benign	2	168930879	168930879	Human		name
405240665	CV2973975	single nucleotide variant	NM_003742.4(ABCB11):c.1434+16A>C	not provided [RCV003683997]	likely benign	2	168973699	168973699	Human		name
405254697	CV2985349	deletion	NM_003742.4(ABCB11):c.2178+16del	not provided [RCV003723129]	likely benign	2	168964190	168964190	Human		name
405009804	CV2986993	single nucleotide variant	NM_003742.4(ABCB11):c.1810-19G>T	not provided [RCV003693884]	likely benign	2	168969570	168969570	Human		name
402510021	CV2994755	single nucleotide variant	NM_003742.4(ABCB11):c.2449-18T>A	not provided [RCV003689471]	likely benign	2	168944784	168944784	Human		name
402510127	CV2994786	single nucleotide variant	NM_003742.4(ABCB11):c.2610+14G>C	not provided [RCV003689480]	likely benign	2	168944591	168944591	Human		name
405026074	CV2999907	single nucleotide variant	NM_003742.4(ABCB11):c.3057-11T>C	not provided [RCV003695222]	likely benign	2	168932544	168932544	Human		name
405124256	CV3021134	single nucleotide variant	NM_003742.4(ABCB11):c.2815-11T>C	not provided [RCV003701081]	likely benign	2	168935436	168935436	Human		name
405054085	CV3022439	single nucleotide variant	NM_003742.4(ABCB11):c.3214-14C>A	not provided [RCV003697215]	likely benign	2	168930876	168930876	Human		name
405055180	CV3023220	single nucleotide variant	NM_003742.4(ABCB11):c.2178+11A>T	not provided [RCV003697288]	likely benign	2	168964195	168964195	Human		name
405121038	CV3024546	single nucleotide variant	NM_003742.4(ABCB11):c.1308+20C>G	not provided [RCV003700761]	likely benign	2	168976557	168976557	Human		name
405140948	CV3026260	single nucleotide variant	NM_003742.4(ABCB11):c.3618+15A>G	not provided [RCV003702500]	likely benign	2	168927141	168927141	Human		name
405120651	CV3027183	single nucleotide variant	NM_003742.4(ABCB11):c.2179-11C>G	not provided [RCV003700724]	likely benign	2	168958139	168958139	Human		name
402479200	CV3033131	single nucleotide variant	NM_003742.4(ABCB11):c.3766-15A>C	not provided [RCV003712653]	likely benign	2	168923837	168923837	Human		name
405195167	CV3037525	single nucleotide variant	NM_003742.4(ABCB11):c.3412-15C>G	not provided [RCV003706836]	likely benign	2	168927377	168927377	Human		name
405202127	CV3038480	single nucleotide variant	NM_003742.4(ABCB11):c.3057-13T>C	not provided [RCV003707547]	likely benign	2	168932546	168932546	Human		name
405200950	CV3041320	single nucleotide variant	NM_003742.4(ABCB11):c.3766-17C>G	not provided [RCV003707435]	likely benign	2	168923839	168923839	Human		name
402509573	CV3042420	single nucleotide variant	NM_003742.4(ABCB11):c.1308+15G>C	not provided [RCV003715568]	likely benign	2	168976562	168976562	Human		name
402512114	CV3042653	single nucleotide variant	NM_003742.4(ABCB11):c.3765+18A>G	not provided [RCV003715715]	likely benign	2	168924639	168924639	Human		name
405090641	CV3044790	single nucleotide variant	NM_003742.4(ABCB11):c.1639-17T>C	not provided [RCV003717793]	likely benign	2	168970232	168970232	Human		name
405251553	CV3049847	single nucleotide variant	NM_003742.4(ABCB11):c.3213+18A>G	not provided [RCV003721850]	likely benign	2	168932359	168932359	Human		name
405078715	CV3050212	single nucleotide variant	NM_003742.4(ABCB11):c.1308+18C>A	not provided [RCV003716966]	likely benign	2	168976559	168976559	Human		name
405252142	CV3050818	single nucleotide variant	NM_003742.4(ABCB11):c.1198-16T>C	not provided [RCV003722088]	likely benign	2	168976703	168976703	Human		name
405252211	CV3050910	deletion	NM_003742.4(ABCB11):c.2449-18del	not provided [RCV003722118]	likely benign	2	168944784	168944784	Human		name
405130827	CV3051049	single nucleotide variant	NM_003742.4(ABCB11):c.2178+16C>T	not provided [RCV003724812]	likely benign	2	168964190	168964190	Human		name
405133713	CV3051811	single nucleotide variant	NM_003742.4(ABCB11):c.3056+19A>T	not provided [RCV003725056]	likely benign	2	168935165	168935165	Human		name
405136282	CV3051942	single nucleotide variant	NM_003742.4(ABCB11):c.1083+19C>T	not provided [RCV003725130]	likely benign	2	168986091	168986091	Human		name
405250827	CV3053161	single nucleotide variant	NM_003742.4(ABCB11):c.2611-13T>C	not provided [RCV003721729]	likely benign	2	168936446	168936446	Human		name
405250834	CV3053164	single nucleotide variant	NM_003742.4(ABCB11):c.3619-14A>C	not provided [RCV003721731]	likely benign	2	168924817	168924817	Human		name
405125872	CV3053402	single nucleotide variant	NM_003742.4(ABCB11):c.3765+16C>G	not provided [RCV003724365]	likely benign	2	168924641	168924641	Human		name
405216951	CV3055774	single nucleotide variant	NM_003742.4(ABCB11):c.1083+15T>C	not provided [RCV003732776]	likely benign	2	168986095	168986095	Human		name
405179287	CV3060425	single nucleotide variant	NM_003742.4(ABCB11):c.2344-11A>G	not provided [RCV003728624]	likely benign	2	168944972	168944972	Human		name
405180701	CV3060644	single nucleotide variant	NM_003742.4(ABCB11):c.2611-16G>C	not provided [RCV003728744]	likely benign	2	168936449	168936449	Human		name
405159516	CV3061743	single nucleotide variant	NM_003742.4(ABCB11):c.2011+13T>C	not provided [RCV003726995]	likely benign	2	168969337	168969337	Human		name
405211475	CV3062949	single nucleotide variant	NM_003742.4(ABCB11):c.1309-14T>C	not provided [RCV003732073]	likely benign	2	168973854	168973854	Human		name
405206995	CV3064447	single nucleotide variant	NM_003742.4(ABCB11):c.1084-19C>T	not provided [RCV003731437]	likely benign	2	168979998	168979998	Human		name
405215012	CV3066593	single nucleotide variant	NM_003742.4(ABCB11):c.2075+19G>T	not provided [RCV003732518]	likely benign	2	168968408	168968408	Human		name
405149961	CV3067527	single nucleotide variant	NM_003742.4(ABCB11):c.1639-20T>C	not provided [RCV003726242]	likely benign	2	168970235	168970235	Human		name
405048307	CV3071791	single nucleotide variant	NM_003742.4(ABCB11):c.2011+17T>C	not provided [RCV003740350]	likely benign	2	168969333	168969333	Human		name
405035219	CV3072577	single nucleotide variant	NM_003742.4(ABCB11):c.1810-17A>G	not provided [RCV003739459]	likely benign	2	168969568	168969568	Human		name
405035244	CV3072580	single nucleotide variant	NM_003742.4(ABCB11):c.3411+14C>G	not provided [RCV003739461]	likely benign	2	168930651	168930651	Human		name
405234678	CV3073867	single nucleotide variant	NM_003742.4(ABCB11):c.2178+20T>A	not provided [RCV003735609]	likely benign	2	168964186	168964186	Human		name
405243027	CV3074627	single nucleotide variant	NM_003742.4(ABCB11):c.1309-18G>A	not provided [RCV003737704]	likely benign	2	168973858	168973858	Human		name
405245991	CV3075668	single nucleotide variant	NM_003742.4(ABCB11):c.3214-14C>G	not provided [RCV003738612]	likely benign	2	168930876	168930876	Human		name
405024357	CV3075849	single nucleotide variant	NM_003742.4(ABCB11):c.3057-20G>A	not provided [RCV003738668]	likely benign	2	168932553	168932553	Human		name
405027375	CV3076065	single nucleotide variant	NM_003742.4(ABCB11):c.3057-12G>T	not provided [RCV003738884]	likely benign	2	168932545	168932545	Human		name
405027956	CV3076157	single nucleotide variant	NM_003742.4(ABCB11):c.2610+11G>C	not provided [RCV003738926]	likely benign	2	168944594	168944594	Human		name
405028233	CV3076253	single nucleotide variant	NM_003742.4(ABCB11):c.1810-19G>A	not provided [RCV003738945]	likely benign	2	168969570	168969570	Human		name
405243112	CV3077248	single nucleotide variant	NM_003742.4(ABCB11):c.3619-17A>G	not provided [RCV003737644]	likely benign	2	168924820	168924820	Human		name
405031007	CV3077509	single nucleotide variant	NM_003742.4(ABCB11):c.1083+12T>G	not provided [RCV003739145]	likely benign	2	168986098	168986098	Human		name
405047927	CV3079789	single nucleotide variant	NM_003742.4(ABCB11):c.1639-14C>T	not provided [RCV003740386]	likely benign	2	168970229	168970229	Human		name
405121662	CV3116625	single nucleotide variant	NM_003742.4(ABCB11):c.1809+20C>A	not provided [RCV003814927]	likely benign	2	168970025	168970025	Human		name
405008066	CV3118278	single nucleotide variant	NM_003742.4(ABCB11):c.3411+13A>G	not provided [RCV003828708]	likely benign	2	168930652	168930652	Human		name
405178630	CV3119692	single nucleotide variant	NM_003742.4(ABCB11):c.3056+20G>A	not provided [RCV003819785]	likely benign	2	168935164	168935164	Human		name
405161993	CV3125155	single nucleotide variant	NM_003742.4(ABCB11):c.2012-11G>A	not provided [RCV003818427]	likely benign	2	168968501	168968501	Human		name
405142013	CV3125947	single nucleotide variant	NM_003742.4(ABCB11):c.2075+20C>G	not provided [RCV003816863]	likely benign	2	168968407	168968407	Human		name
404993044	CV3132436	single nucleotide variant	NM_003742.4(ABCB11):c.1639-12C>T	not provided [RCV003827375]	likely benign	2	168970227	168970227	Human		name
405115848	CV3134244	single nucleotide variant	NM_003742.4(ABCB11):c.3213+11G>A	not provided [RCV003836846]	likely benign	2	168932366	168932366	Human		name
405107169	CV3136161	single nucleotide variant	NM_003742.4(ABCB11):c.2075+19G>A	not provided [RCV003835507]	likely benign	2	168968408	168968408	Human		name
405082468	CV3137514	single nucleotide variant	NM_003742.4(ABCB11):c.1638+16C>A	not provided [RCV003834223]	likely benign	2	168971831	168971831	Human		name
405052972	CV3138403	single nucleotide variant	NM_003742.4(ABCB11):c.3057-15T>C	not provided [RCV003832247]	likely benign	2	168932548	168932548	Human		name
405055868	CV3138609	single nucleotide variant	NM_003742.4(ABCB11):c.1434+20T>C	not provided [RCV003832454]	likely benign	2	168973695	168973695	Human		name
405068233	CV3140149	single nucleotide variant	NM_003742.4(ABCB11):c.2076-13T>C	not provided [RCV003833304]	likely benign	2	168964321	168964321	Human		name
405035155	CV3140451	single nucleotide variant	NM_003742.4(ABCB11):c.1810-12A>G	not provided [RCV003830933]	likely benign	2	168969563	168969563	Human		name
405224699	CV3142232	single nucleotide variant	NM_003742.4(ABCB11):c.3766-18T>C	not provided [RCV003847771]	likely benign	2	168923840	168923840	Human		name
405050374	CV3150911	single nucleotide variant	NM_003742.4(ABCB11):c.2344-15T>C	not provided [RCV003849515]	likely benign	2	168944976	168944976	Human		name
405176523	CV3152352	single nucleotide variant	NM_003742.4(ABCB11):c.1197+12C>G	not provided [RCV003858307]	likely benign	2	168979854	168979854	Human		name
405230218	CV3153841	single nucleotide variant	NM_003742.4(ABCB11):c.1638+12C>T	not provided [RCV003848708]	likely benign	2	168971835	168971835	Human		name
405141930	CV3155369	single nucleotide variant	NM_003742.4(ABCB11):c.3411+14C>A	not provided [RCV003855607]	likely benign	2	168930651	168930651	Human		name
405225291	CV3158873	single nucleotide variant	NM_003742.4(ABCB11):c.3411+20T>G	not provided [RCV003864175]	likely benign	2	168930645	168930645	Human		name
405248451	CV3159265	single nucleotide variant	NM_003742.4(ABCB11):c.3213+18A>C	not provided [RCV003869410]	likely benign	2	168932359	168932359	Human		name
405127519	CV3163155	single nucleotide variant	NM_003742.4(ABCB11):c.2075+14A>G	not provided [RCV003854336]	likely benign	2	168968413	168968413	Human		name
405197388	CV3168261	single nucleotide variant	NM_003742.4(ABCB11):c.3411+20T>C	not provided [RCV003860393]	likely benign	2	168930645	168930645	Human		name
402468306	CV3174208	single nucleotide variant	NM_003742.4(ABCB11):c.3619-13T>C	not provided [RCV003873491]	likely benign	2	168924816	168924816	Human		name
405252502	CV3177983	single nucleotide variant	NM_003742.4(ABCB11):c.2075+16G>A	not provided [RCV003870763]	likely benign	2	168968411	168968411	Human		name
12842968	CV365695	single nucleotide variant	NM_003742.4(ABCB11):c.2815-17T>G	not provided [RCV003718234]\|not specified [RCV000435380]	likely benign	2	168935442	168935442	Human		name
12837796	CV365922	single nucleotide variant	NM_003742.4(ABCB11):c.2011+18A>G	not provided [RCV003718239]\|not specified [RCV000425784]	likely benign	2	168969332	168969332	Human		name
12847729	CV365948	single nucleotide variant	NM_003742.4(ABCB11):c.1083+18A>T	not provided [RCV002521613]\|not specified [RCV000444006]	benign	2	168986092	168986092	Human		name
12835183	CV366169	single nucleotide variant	NM_003742.4(ABCB11):c.3412-13C>T	not provided [RCV002522651]\|not specified [RCV000421252]	likely benign	2	168927375	168927375	Human		name
597830481	CV3743034	single nucleotide variant	NM_003742.4(ABCB11):c.3213+19T>C	not provided [RCV005062042]	likely benign	2	168932358	168932358	Human		name
597850176	CV3746777	single nucleotide variant	NM_003742.4(ABCB11):c.1084-17C>T	not provided [RCV005066174]	likely benign	2	168979996	168979996	Human		name
597854844	CV3747660	single nucleotide variant	NM_003742.4(ABCB11):c.1308+18C>T	not provided [RCV005066671]	likely benign	2	168976559	168976559	Human		name
597852778	CV3758607	single nucleotide variant	NM_003742.4(ABCB11):c.2179-16C>G	not provided [RCV005088168]	likely benign	2	168958144	168958144	Human		name
597938456	CV3760107	single nucleotide variant	NM_003742.4(ABCB11):c.3411+12A>G	not provided [RCV005077031]	likely benign	2	168930653	168930653	Human		name
597836154	CV3764609	single nucleotide variant	NM_003742.4(ABCB11):c.2610+20A>G	not provided [RCV005107408]	likely benign	2	168944585	168944585	Human		name
597845513	CV3765517	single nucleotide variant	NM_003742.4(ABCB11):c.2610+14G>T	not provided [RCV005121161]	likely benign	2	168944591	168944591	Human		name
597841136	CV3772430	single nucleotide variant	NM_003742.4(ABCB11):c.3766-11T>C	not provided [RCV005115580]	likely benign	2	168923833	168923833	Human		name
597847671	CV3775494	deletion	NM_003742.4(ABCB11):c.3619-11del	not provided [RCV005123224]	likely benign	2	168924814	168924814	Human		name
597846104	CV3786602	single nucleotide variant	NM_003742.4(ABCB11):c.2076-18C>G	not provided [RCV005121693]	likely benign	2	168964326	168964326	Human		name
597881940	CV3826939	single nucleotide variant	NM_003742.4(ABCB11):c.3765+11A>T	not provided [RCV005156952]	likely benign	2	168924646	168924646	Human		name
597889514	CV3827640	single nucleotide variant	NM_003742.4(ABCB11):c.2076-16T>C	not provided [RCV005164895]	likely benign	2	168964324	168964324	Human		name
597913471	CV3847852	single nucleotide variant	NM_003742.4(ABCB11):c.2012-14G>T	not provided [RCV005188581]	likely benign	2	168968504	168968504	Human		name
597930988	CV3862894	single nucleotide variant	NM_003742.4(ABCB11):c.2012-19C>T	not provided [RCV005205382]	likely benign	2	168968509	168968509	Human		name
13540013	CV499009	single nucleotide variant	NM_003742.4(ABCB11):c.2814+15C>T	not provided [RCV003736851]\|not specified [RCV000614100]	likely benign	2	168936215	168936215	Human		name
13540307	CV499134	single nucleotide variant	NM_003742.4(ABCB11):c.2814+12G>C	not provided [RCV003736852]\|not specified [RCV000614512]	likely benign	2	168936218	168936218	Human		name
13538696	CV499149	single nucleotide variant	NM_003742.4(ABCB11):c.2343+15G>A	not specified [RCV000612207]	likely benign	2	168957949	168957949	Human		name
13535999	CV499172	single nucleotide variant	NM_003742.4(ABCB11):c.1638+17A>T	not provided [RCV003558458]\|not specified [RCV000608369]	likely benign	2	168971830	168971830	Human		name
13836025	CV587291	single nucleotide variant	NM_003742.4(ABCB11):c.3411+10G>A	ABCB11-related disorder [RCV003965533]\|Progressive familial intrahepatic cholestasis type 2 [RCV001135195]\|not provided [RCV000731990]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168930655	168930655	Human	1	name , alternate_id
14742315	CV658282	single nucleotide variant	NM_003742.4(ABCB11):c.1810-18C>T	not provided [RCV000841301]	likely benign	2	168969569	168969569	Human		name
15123447	CV787071	single nucleotide variant	NM_003742.4(ABCB11):c.2448+10G>T	not provided [RCV000979835]	likely benign	2	168944847	168944847	Human		name
28868722	CV882827	single nucleotide variant	NM_003742.4(ABCB11):c.3057-12G>A	Progressive familial intrahepatic cholestasis type 2 [RCV001130161]\|not provided [RCV003736994]	likely benign\|uncertain significance	2	168932545	168932545	Human	1	name
28868906	CV882828	single nucleotide variant	NM_003742.4(ABCB11):c.1435-11A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001130297]	uncertain significance	2	168972061	168972061	Human	1	name
28868908	CV882829	single nucleotide variant	NM_003742.4(ABCB11):c.1434+14A>G	Progressive familial intrahepatic cholestasis type 2 [RCV001130298]\|not provided [RCV003558696]	likely benign\|uncertain significance	2	168973701	168973701	Human	1	name
28870115	CV882830	single nucleotide variant	NM_003742.4(ABCB11):c.1197+13C>T	Progressive familial intrahepatic cholestasis type 2 [RCV001131008]\|not provided [RCV003574838]	likely benign\|uncertain significance	2	168979853	168979853	Human	1	name
150340423	CV1167924	single nucleotide variant	NM_003742.4(ABCB11):c.2815-181A>G	not provided [RCV001535354]	benign	2	168935606	168935606	Human		name
150340016	CV1167925	single nucleotide variant	NM_003742.4(ABCB11):c.1084-241A>G	not provided [RCV001534867]	benign	2	168980220	168980220	Human		name
150332327	CV1168872	single nucleotide variant	NM_003742.4(ABCB11):c.1309-165C>T	not provided [RCV001536828]	benign	2	168974005	168974005	Human		name
150333363	CV1168873	single nucleotide variant	NM_003742.4(ABCB11):c.1308+122G>A	not provided [RCV001537299]	benign	2	168976455	168976455	Human		name
150338715	CV1174439	single nucleotide variant	NM_003742.4(ABCB11):c.2344-157T>G	Benign recurrent intrahepatic cholestasis type 2 [RCV001542886]\|Progressive familial intrahepatic cholestasis type 2 [RCV001542887]\|not provided [RCV001692468]	benign	2	168945118	168945118	Human	2	name
150424805	CV1183025	single nucleotide variant	NM_003742.4(ABCB11):c.1810-122C>A	not provided [RCV001557151]	likely benign	2	168969673	168969673	Human		name
150418405	CV1196729	single nucleotide variant	NM_003742.4(ABCB11):c.1810-124G>A	not provided [RCV001576727]	likely benign	2	168969675	168969675	Human		name
150494874	CV1204907	single nucleotide variant	NM_003742.4(ABCB11):c.1308+116G>A	not provided [RCV001593399]	likely benign	2	168976461	168976461	Human		name
150514242	CV1210931	single nucleotide variant	NM_003742.4(ABCB11):c.1084-209A>C	not provided [RCV001598974]	benign	2	168980188	168980188	Human		name
150510429	CV1211671	duplication	NM_003742.4(ABCB11):c.2011+219dup	not provided [RCV001597565]	benign	2	168969116	168969117	Human		name
150513342	CV1211899	single nucleotide variant	NM_003742.4(ABCB11):c.2815-141G>A	not provided [RCV001598420]	benign	2	168935566	168935566	Human		name
150512496	CV1212996	duplication	NM_003742.4(ABCB11):c.2012-310dup	not provided [RCV001598228]	benign	2	168968790	168968791	Human		name
150500433	CV1213155	single nucleotide variant	NM_003742.4(ABCB11):c.1639-292T>C	not provided [RCV001594567]	benign	2	168970507	168970507	Human		name
150455364	CV1220449	single nucleotide variant	NM_003742.4(ABCB11):c.1198-250C>A	not provided [RCV001612542]	benign	2	168976937	168976937	Human		name
150451122	CV1220819	single nucleotide variant	NM_003742.4(ABCB11):c.1083+282C>G	not provided [RCV001611913]	benign	2	168985828	168985828	Human		name
150479126	CV1221453	deletion	NM_003742.4(ABCB11):c.2012-301del	not provided [RCV001616532]	benign	2	168968791	168968791	Human		name
150517489	CV1226939	single nucleotide variant	NM_003742.4(ABCB11):c.2075+188G>T	not provided [RCV001640035]	benign	2	168968239	168968239	Human		name
150515863	CV1227692	single nucleotide variant	NM_003742.4(ABCB11):c.2076-280T>C	not provided [RCV001638967]	benign	2	168964588	168964588	Human		name
150512261	CV1228461	deletion	NM_003742.4(ABCB11):c.2011+233del	not provided [RCV001637593]	benign	2	168969117	168969117	Human		name
150450883	CV1232730	single nucleotide variant	NM_003742.4(ABCB11):c.2815-236G>A	not provided [RCV001647805]	benign	2	168935661	168935661	Human	4	name
150450883	CV1232730	single nucleotide variant	NM_003742.4(ABCB11):c.2815-236G>A	not provided [RCV001647805]	benign	2	168935661	168935662	Human	4	name
150463201	CV1235021	single nucleotide variant	NM_003742.4(ABCB11):c.1639-264C>A	not provided [RCV001649603]	benign	2	168970479	168970479	Human		name
150431861	CV1236565	deletion	NM_003742.4(ABCB11):c.2012-248del	not provided [RCV001641969]	benign	2	168968738	168968738	Human		name
150431874	CV1236572	single nucleotide variant	NM_003742.4(ABCB11):c.3765+282A>G	not provided [RCV001641976]	benign	2	168924375	168924375	Human		name
150486792	CV1237227	deletion	NM_003742.4(ABCB11):c.1084-219del	not provided [RCV001654075]	benign	2	168980198	168980198	Human		name
150430574	CV1243374	deletion	NM_003742.4(ABCB11):c.1638+128del	not provided [RCV001662991]	benign	2	168971719	168971719	Human		name
150434708	CV1244018	single nucleotide variant	NM_003742.4(ABCB11):c.3056+256T>C	not provided [RCV001665225]	benign	2	168934928	168934928	Human	8	name
150485439	CV1250227	single nucleotide variant	NM_003742.4(ABCB11):c.1309-311C>T	not provided [RCV001673840]	benign	2	168974151	168974151	Human	10	name
150491707	CV1251233	single nucleotide variant	NM_003742.4(ABCB11):c.1198-302G>T	not provided [RCV001674901]	benign	2	168976989	168976989	Human		name
150486942	CV1251440	single nucleotide variant	NM_003742.4(ABCB11):c.2011+218C>T	not provided [RCV001674111]	benign	2	168969132	168969132	Human		name
150465114	CV1252828	deletion	NM_003742.4(ABCB11):c.2011+218del	not provided [RCV001670152]	benign	2	168969132	168969132	Human		name
150460475	CV1253113	single nucleotide variant	NM_003742.4(ABCB11):c.3618+101A>C	not provided [RCV001669442]	benign	2	168927055	168927055	Human		name
150449791	CV1254024	single nucleotide variant	NM_003742.4(ABCB11):c.1435-144A>G	not provided [RCV001667661]	benign	2	168972194	168972194	Human		name
150449856	CV1254033	single nucleotide variant	NM_003742.4(ABCB11):c.1084-259G>A	not provided [RCV001667670]	benign	2	168980238	168980238	Human		name
150495242	CV1256596	single nucleotide variant	NM_003742.4(ABCB11):c.1639-152G>A	not provided [RCV001675561]	benign	2	168970367	168970367	Human		name
150468172	CV1257016	single nucleotide variant	NM_003742.4(ABCB11):c.2815-253G>C	not provided [RCV001670662]	benign	2	168935678	168935678	Human		name
150479963	CV1258341	single nucleotide variant	NM_003742.4(ABCB11):c.2076-314T>C	not provided [RCV001685760]	benign	2	168964622	168964622	Human		name
150472892	CV1259374	single nucleotide variant	NM_003742.4(ABCB11):c.2815-189T>G	not provided [RCV001684620]	benign	2	168935614	168935614	Human		name
150456206	CV1259979	single nucleotide variant	NM_003742.4(ABCB11):c.1083+213G>T	not provided [RCV001681458]	benign	2	168985897	168985897	Human		name
150458170	CV1260243	single nucleotide variant	NM_003742.4(ABCB11):c.1639-293G>A	not provided [RCV001681723]	benign	2	168970508	168970508	Human		name
150482445	CV1261622	single nucleotide variant	NM_003742.4(ABCB11):c.1809+118T>C	not provided [RCV001686225]	benign	2	168969927	168969927	Human		name
150461803	CV1263276	single nucleotide variant	NM_003742.4(ABCB11):c.1639-273T>C	not provided [RCV001682273]	benign	2	168970488	168970488	Human		name
150474394	CV1263355	single nucleotide variant	NM_003742.4(ABCB11):c.2610+174T>C	not provided [RCV001684877]	benign	2	168944431	168944431	Human		name
150438634	CV1264851	single nucleotide variant	NM_003742.4(ABCB11):c.1308+326C>G	not provided [RCV001678844]	benign	2	168976251	168976251	Human		name
150489203	CV1265378	single nucleotide variant	NM_003742.4(ABCB11):c.3057-263A>G	not provided [RCV001687414]	benign	2	168932796	168932796	Human		name
150442272	CV1266202	single nucleotide variant	NM_003742.4(ABCB11):c.3765+206A>G	not provided [RCV001690637]	benign	2	168924451	168924451	Human		name
150493318	CV1267122	microsatellite	NM_003742.4(ABCB11):c.77-171GA[6]	not provided [RCV001688149]	benign	2	169016962	169016963	Human		name
150464007	CV1273234	single nucleotide variant	NM_003742.4(ABCB11):c.1308+335G>A	not provided [RCV001693991]	benign	2	168976242	168976242	Human		name
150467858	CV1277644	single nucleotide variant	NM_003742.4(ABCB11):c.2075+194G>T	not provided [RCV001710939]	benign	2	168968233	168968233	Human		name
150468259	CV1277707	single nucleotide variant	NM_003742.4(ABCB11):c.2179-269T>C	not provided [RCV001711002]	benign	2	168958397	168958397	Human		name
150481992	CV1279882	deletion	NM_003742.4(ABCB11):c.2076-291del	not provided [RCV001714946]	benign	2	168964599	168964599	Human		name
150491539	CV1280449	single nucleotide variant	NM_003742.4(ABCB11):c.1434+174G>A	not provided [RCV001716657]	benign	2	168973541	168973541	Human		name
150488818	CV1284102	single nucleotide variant	NM_003742.4(ABCB11):c.2343+127T>C	not provided [RCV001716166]	benign	2	168957837	168957837	Human		name
150521458	CV1291088	single nucleotide variant	NM_003742.4(ABCB11):c.2344-122T>C	not provided [RCV001732669]	likely benign	2	168945083	168945083	Human		name
150531486	CV1310906	single nucleotide variant	NM_003742.4(ABCB11):c.3214-115G>A	not provided [RCV001776640]	likely benign	2	168930977	168930977	Human		name
150535826	CV1312054	single nucleotide variant	NM_003742.4(ABCB11):c.1435-129G>A	not provided [RCV001779865]	likely benign	2	168972179	168972179	Human		name
155268861	CV1705688	duplication	NM_003742.4(ABCB11):c.1197+193dup	not provided [RCV002286295]	likely benign	2	168979672	168979673	Human		name
150340110	CV1167926	microsatellite	NM_003742.4(ABCB11):c.77-224GT[20]	not provided [RCV001534991]	benign	2	169016980	169016983	Human		name
150460070	CV1231278	microsatellite	NM_003742.4(ABCB11):c.77-224GT[24]	not provided [RCV001640842]	benign	2	169016979	169016980	Human		name
150458157	CV1260241	microsatellite	NM_003742.4(ABCB11):c.77-224GT[25]	not provided [RCV001681721]	benign	2	169016979	169016980	Human		name
150484285	CV1263144	microsatellite	NM_003742.4(ABCB11):c.77-224GT[21]	not provided [RCV001686544]	benign	2	169016980	169016981	Human		name
150489111	CV1265360	microsatellite	NM_003742.4(ABCB11):c.77-224GT[19]	not provided [RCV001687396]	benign	2	169016980	169016985	Human		name
150461000	CV1270594	microsatellite	NM_003742.4(ABCB11):c.77-224GT[23]	not provided [RCV001693584]	benign	2	169016979	169016980	Human		name
151765915	CV1516082	deletion	NM_003742.4(ABCB11):c.907_908+9del	not provided [RCV002024886]	likely pathogenic	2	168990792	168990802	Human		name
152159696	CV1589888	microsatellite	NM_003742.4(ABCB11):c.2179-15CT[3]	not provided [RCV002203219]	likely benign	2	168958136	168958137	Human		name
405190971	CV2928031	microsatellite	NM_003742.4(ABCB11):c.3057-20GT[2]	not provided [RCV003564898]	likely benign	2	168932548	168932549	Human		name
404996466	CV2992554	deletion	NM_003742.4(ABCB11):c.99-5_99-4del	not provided [RCV003692751]	likely benign	2	169014358	169014359	Human		name
13535264	CV499164	microsatellite	NM_003742.4(ABCB11):c.1084-19CT[3]	not provided [RCV003574786]\|not specified [RCV000607648]	likely benign	2	168979991	168979992	Human		name
402464485	CV3177052	microsatellite	NM_003742.4(ABCB11):c.1435-21TGT[3]	not provided [RCV003872683]	likely benign	2	168972065	168972066	Human		name
127322662	CV1153867	duplication	NM_003742.4(ABCB11):c.77-16_77-15dup	not provided [RCV001523611]	benign	2	169016806	169016807	Human		name
155992274	CV1990560	single nucleotide variant	NM_003742.4(ABCB11):c.6T>C (p.Ser2=)	not provided [RCV002618072]	likely benign	2	169018120	169018120	Human		name
155938877	CV2041524	single nucleotide variant	NM_003742.4(ABCB11):c.9C>T (p.Asp3=)	not provided [RCV002775060]	likely benign	2	169018117	169018117	Human		name
405179542	CV2913225	deletion	NM_003742.4(ABCB11):c.390-6_390-5del	not provided [RCV003563813]	likely benign	2	168996727	168996728	Human		name
127259674	CV1090048	single nucleotide variant	NM_003742.4(ABCB11):c.27T>C (p.Ser9=)	not provided [RCV001427645]	likely benign	2	169018099	169018099	Human		name
156146652	CV2178841	deletion	NM_003742.4(ABCB11):c.1190_1197+15del	not provided [RCV003040232]	likely pathogenic	2	168979851	168979873	Human		name
402518953	CV2992320	deletion	NM_003742.4(ABCB11):c.783+9_783+10del	not provided [RCV003690030]	likely benign	2	168993701	168993702	Human		name
127289114	CV1111548	single nucleotide variant	NM_003742.4(ABCB11):c.78T>C (p.Tyr26=)	not provided [RCV001450789]	likely benign	2	169016798	169016798	Human		name
152047115	CV1591339	single nucleotide variant	NM_003742.4(ABCB11):c.45G>A (p.Glu15=)	not provided [RCV002188954]	likely benign	2	169018081	169018081	Human		name
152094033	CV1609243	single nucleotide variant	NM_003742.4(ABCB11):c.51T>C (p.Asn17=)	not provided [RCV002172213]	likely benign	2	169018075	169018075	Human		name
152154153	CV1657903	single nucleotide variant	NM_003742.4(ABCB11):c.87T>C (p.Asp29=)	not provided [RCV002179899]	likely benign	2	169016789	169016789	Human		name
156061321	CV2008276	single nucleotide variant	NM_003742.4(ABCB11):c.66A>G (p.Ser22=)	not provided [RCV002705396]	likely benign	2	169018060	169018060	Human		name
156190260	CV2175146	microsatellite	NM_003742.4(ABCB11):c.2076-7_2076-4del	not provided [RCV003057809]	likely benign	2	168964312	168964315	Human		name
404977169	CV2848836	single nucleotide variant	NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)	Progressive familial intrahepatic cholestasis type 2 [RCV003485957]	pathogenic	2	169018124	169018124	Human	1	name
405268896	CV3201142	single nucleotide variant	NM_003742.4(ABCB11):c.42A>G (p.Gly14=)	ABCB11-related disorder [RCV003899249]\|not provided [RCV005101526]	likely benign	2	169018084	169018084	Human	1	name , alternate_id
598228306	CV3893035	single nucleotide variant	NM_003742.4(ABCB11):c.1A>G (p.Met1Val)	Progressive familial intrahepatic cholestasis type 2 [RCV005255362]	uncertain significance	2	169018125	169018125	Human	1	name
616937044	CV4010409	single nucleotide variant	NM_003742.4(ABCB11):c.1A>T (p.Met1Leu)	Progressive familial intrahepatic cholestasis type 2 [RCV005403710]	likely pathogenic	2	169018125	169018125	Human	1	name
13834488	CV585734	single nucleotide variant	NM_003742.4(ABCB11):c.48G>A (p.Glu16=)	ABCB11-related disorder [RCV004742614]\|not provided [RCV000730022]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169018078	169018078	Human	1	name , alternate_id
15197353	CV746914	single nucleotide variant	NM_003742.4(ABCB11):c.93A>G (p.Lys31=)	not provided [RCV000911951]	likely benign	2	169016783	169016783	Human		name
127262045	CV1068325	single nucleotide variant	NM_003742.4(ABCB11):c.285T>C (p.Val95=)	not provided [RCV001402551]	likely benign	2	169013376	169013376	Human		name
127230158	CV1068326	single nucleotide variant	NM_003742.4(ABCB11):c.181C>T (p.Leu61=)	not provided [RCV001394597]	likely benign	2	169013480	169013480	Human		name
127233104	CV1090044	single nucleotide variant	NM_003742.4(ABCB11):c.282C>T (p.Asp94=)	Progressive familial intrahepatic cholestasis type 2 [RCV001826230]\|not provided [RCV001421605]	likely benign	2	169013379	169013379	Human	1	name
127244585	CV1090045	single nucleotide variant	NM_003742.4(ABCB11):c.228G>A (p.Gln76=)	not provided [RCV001435074]	likely benign	2	169013433	169013433	Human		name
127232820	CV1090046	single nucleotide variant	NM_003742.4(ABCB11):c.207A>G (p.Ala69=)	not provided [RCV001421457]	likely benign	2	169013454	169013454	Human		name
127273013	CV1090047	single nucleotide variant	NM_003742.4(ABCB11):c.102A>G (p.Leu34=)	not provided [RCV001442397]	likely benign	2	169014351	169014351	Human		name
127298320	CV1111546	single nucleotide variant	NM_003742.4(ABCB11):c.132A>G (p.Arg44=)	not provided [RCV001477878]	likely benign	2	169014321	169014321	Human		name
127293121	CV1111547	single nucleotide variant	NM_003742.4(ABCB11):c.126C>A (p.Gly42=)	not provided [RCV001451901]	likely benign	2	169014327	169014327	Human		name
127314913	CV1132434	single nucleotide variant	NM_003742.4(ABCB11):c.294A>G (p.Gln98=)	not provided [RCV001502589]	likely benign	2	169013367	169013367	Human		name
127324434	CV1132435	single nucleotide variant	NM_003742.4(ABCB11):c.156G>C (p.Arg52=)	not provided [RCV001505667]	likely benign	2	169013505	169013505	Human		name
127327032	CV1132436	single nucleotide variant	NM_003742.4(ABCB11):c.130A>C (p.Arg44=)	not provided [RCV001506454]	likely benign	2	169014323	169014323	Human		name
152160998	CV1555232	single nucleotide variant	NM_003742.4(ABCB11):c.120T>C (p.Gly40=)	not provided [RCV002103792]	likely benign	2	169014333	169014333	Human		name
152090043	CV1563210	single nucleotide variant	NM_003742.4(ABCB11):c.264T>C (p.Asp88=)	not provided [RCV002113951]	likely benign	2	169013397	169013397	Human		name
152027273	CV1626844	single nucleotide variant	NM_003742.4(ABCB11):c.252C>T (p.Gly84=)	not provided [RCV002185441]	likely benign	2	169013409	169013409	Human		name
155947032	CV1872283	deletion	NM_003742.4(ABCB11):c.1083+9_1083+17del	not provided [RCV003073914]	likely benign	2	168986093	168986101	Human		name
156234909	CV1885414	single nucleotide variant	NM_003742.4(ABCB11):c.171T>C (p.Thr57=)	not provided [RCV003085519]	likely benign	2	169013490	169013490	Human		name
155971220	CV2079230	single nucleotide variant	NM_003742.4(ABCB11):c.297A>G (p.Glu99=)	not provided [RCV002881496]	likely benign	2	169013364	169013364	Human		name
11552303	CV250370	single nucleotide variant	NM_003742.4(ABCB11):c.270T>C (p.Phe90=)	Benign recurrent intrahepatic cholestasis type 2 [RCV001543164]\|Progressive familial intrahepatic cholestasis type 2 [RCV000399499]\|not provided [RCV001515148]\|not specified [RCV000254197]	benign\|likely benign	2	169013391	169013391	Human	5	name
11552303	CV250370	single nucleotide variant	NM_003742.4(ABCB11):c.270T>C (p.Phe90=)	Benign recurrent intrahepatic cholestasis type 2 [RCV001543164]\|Progressive familial intrahepatic cholestasis type 2 [RCV000399499]\|not provided [RCV001515148]\|not specified [RCV000254197]	benign\|likely benign	2	169013391	169013392	Human	5	name
11550568	CV250371	single nucleotide variant	NM_003742.4(ABCB11):c.108T>C (p.Asp36=)	Progressive familial intrahepatic cholestasis type 2 [RCV000312954]\|not provided [RCV001520904]\|not specified [RCV000251928]	benign	2	169014345	169014345	Human	1	name
11632809	CV272948	single nucleotide variant	NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)	not provided [RCV000329436]	pathogenic\|likely pathogenic	2	169018104	169018104	Human		name
11642705	CV274050	single nucleotide variant	NM_003742.4(ABCB11):c.156G>A (p.Arg52=)	Progressive familial intrahepatic cholestasis type 2 [RCV001276313]\|not provided [RCV000380520]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169013505	169013505	Human	1	name
402517779	CV2856783	single nucleotide variant	NM_003742.4(ABCB11):c.225C>A (p.Ala75=)	not provided [RCV003575534]	likely benign	2	169013436	169013436	Human		name
405190883	CV2924659	single nucleotide variant	NM_003742.4(ABCB11):c.219A>G (p.Gly73=)	not provided [RCV003564831]	likely benign	2	169013442	169013442	Human		name
405031518	CV3077461	duplication	NM_003742.4(ABCB11):c.3765+6_3765+15dup	not provided [RCV003739130]	likely benign	2	168924641	168924642	Human		name
405048790	CV3137919	single nucleotide variant	NM_003742.4(ABCB11):c.148T>C (p.Leu50=)	not provided [RCV003831957]	likely benign	2	169014305	169014305	Human		name
405234275	CV3168390	duplication	NM_003742.4(ABCB11):c.1638+7_1638+16dup	not provided [RCV003865864]	likely benign	2	168971830	168971831	Human		name
405818172	CV3280866	single nucleotide variant	NM_003742.4(ABCB11):c.26G>A (p.Ser9Asn)	Inborn genetic diseases [RCV004413182]	uncertain significance	2	169018100	169018100	Human	1	name
12836825	CV365696	single nucleotide variant	NM_003742.4(ABCB11):c.279C>T (p.Tyr93=)	not provided [RCV000728096]\|not specified [RCV000424096]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169013382	169013382	Human		name
12895874	CV389446	deletion	NM_003742.4(ABCB11):c.1435-13_1435-8del	Progressive familial intrahepatic cholestasis type 2 [RCV001835807]\|not provided [RCV000727486]\|not specified [RCV000454574]	conflicting interpretations of pathogenicity\|uncertain significance	2	168972058	168972063	Human	1	name
13516729	CV491535	single nucleotide variant	NM_003742.4(ABCB11):c.174C>T (p.Asp58=)	Progressive familial intrahepatic cholestasis type 2 [RCV001829659]\|not provided [RCV000595893]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169013487	169013487	Human	1	name
13523687	CV494114	single nucleotide variant	NM_003742.4(ABCB11):c.216T>C (p.His72=)	not provided [RCV000593323]	conflicting interpretations of pathogenicity\|uncertain significance	2	169013445	169013445	Human		name
13832898	CV584123	single nucleotide variant	NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)	not provided [RCV000727991]	conflicting interpretations of pathogenicity\|uncertain significance	2	169018103	169018103	Human		name
13834272	CV585517	single nucleotide variant	NM_003742.4(ABCB11):c.126C>T (p.Gly42=)	ABCB11-related disorder [RCV003892621]\|not provided [RCV000729747]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169014327	169014327	Human	1	name , alternate_id
127250317	CV1068314	single nucleotide variant	NM_003742.4(ABCB11):c.984C>T (p.Phe328=)	not provided [RCV001399852]	likely benign	2	168986209	168986209	Human		name
127281104	CV1068316	single nucleotide variant	NM_003742.4(ABCB11):c.900G>A (p.Glu300=)	not provided [RCV001410219]	likely benign	2	168990809	168990809	Human		name
127240702	CV1068317	single nucleotide variant	NM_003742.4(ABCB11):c.840G>A (p.Val280=)	not provided [RCV001392972]	likely benign	2	168990869	168990869	Human		name
127256804	CV1068318	single nucleotide variant	NM_003742.4(ABCB11):c.774C>A (p.Thr258=)	not provided [RCV001401317]	likely benign	2	168993720	168993720	Human		name
127241800	CV1068319	single nucleotide variant	NM_003742.4(ABCB11):c.738T>C (p.Ile246=)	not provided [RCV001393235]	likely benign	2	168993756	168993756	Human		name
127257829	CV1068320	single nucleotide variant	NM_003742.4(ABCB11):c.697T>C (p.Leu233=)	not provided [RCV001401572]	likely benign	2	168993797	168993797	Human		name
127231092	CV1068321	single nucleotide variant	NM_003742.4(ABCB11):c.675C>G (p.Thr225=)	not provided [RCV001395120]	likely benign	2	168993819	168993819	Human		name
127282447	CV1068323	single nucleotide variant	NM_003742.4(ABCB11):c.582A>T (p.Ser194=)	not provided [RCV001411127]	likely benign	2	168995378	168995378	Human		name
127254456	CV1068324	single nucleotide variant	NM_003742.4(ABCB11):c.453A>G (p.Ala151=)	not provided [RCV001418563]	likely benign	2	168996659	168996659	Human		name
127245669	CV1090038	single nucleotide variant	NM_003742.4(ABCB11):c.837G>C (p.Val279=)	not provided [RCV001435254]	likely benign	2	168990872	168990872	Human		name
127284378	CV1090040	single nucleotide variant	NM_003742.4(ABCB11):c.585G>T (p.Val195=)	not provided [RCV001449382]	likely benign	2	168995375	168995375	Human		name
127267454	CV1090041	single nucleotide variant	NM_003742.4(ABCB11):c.450C>T (p.Val150=)	ABCB11-related disorder [RCV003900478]\|not provided [RCV001429710]	likely benign	2	168996662	168996662	Human	1	name , alternate_id
127272957	CV1090042	single nucleotide variant	NM_003742.4(ABCB11):c.435T>C (p.Tyr145=)	ABCB11-related disorder [RCV003965820]\|not provided [RCV001431485]	likely benign	2	168996677	168996677	Human	1	name , alternate_id
127296497	CV1111541	single nucleotide variant	NM_003742.4(ABCB11):c.939T>C (p.Arg313=)	not provided [RCV001460003]	likely benign	2	168986254	168986254	Human		name
127331195	CV1111542	single nucleotide variant	NM_003742.4(ABCB11):c.811C>T (p.Leu271=)	not provided [RCV001471380]	likely benign	2	168990898	168990898	Human		name
127326891	CV1111543	single nucleotide variant	NM_003742.4(ABCB11):c.795G>A (p.Lys265=)	not provided [RCV001468908]	likely benign	2	168990914	168990914	Human		name
127308401	CV1111544	single nucleotide variant	NM_003742.4(ABCB11):c.552A>G (p.Arg184=)	not provided [RCV001456080]	likely benign	2	168995408	168995408	Human		name
127311935	CV1111545	single nucleotide variant	NM_003742.4(ABCB11):c.333C>G (p.Thr111=)	not provided [RCV001457032]	likely benign	2	169013328	169013328	Human		name
127303266	CV1132430	single nucleotide variant	NM_003742.4(ABCB11):c.741T>C (p.Ser247=)	not provided [RCV001479208]	likely benign	2	168993753	168993753	Human		name
127293655	CV1132431	single nucleotide variant	NM_003742.4(ABCB11):c.696G>T (p.Leu232=)	not provided [RCV001496830]	likely benign	2	168993798	168993798	Human		name
127304667	CV1132432	single nucleotide variant	NM_003742.4(ABCB11):c.516G>A (p.Gln172=)	not provided [RCV001479568]	likely benign	2	168995444	168995444	Human		name
127308701	CV1132433	single nucleotide variant	NM_003742.4(ABCB11):c.381A>G (p.Thr127=)	not provided [RCV001500847]	likely benign	2	169013280	169013280	Human		name
150412315	CV1185894	single nucleotide variant	NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	Benign recurrent intrahepatic cholestasis type 2 [RCV001559148]\|Progressive familial intrahepatic cholestasis type 2 [RCV001559149]\|not provided [RCV002570722]	likely benign\|uncertain significance	2	169018065	169018065	Human	2	name
152094963	CV1521013	single nucleotide variant	NM_003742.4(ABCB11):c.420A>G (p.Lys140=)	not provided [RCV002078218]	likely benign	2	168996692	168996692	Human		name
152116931	CV1523918	single nucleotide variant	NM_003742.4(ABCB11):c.774C>T (p.Thr258=)	not provided [RCV002135214]	likely benign	2	168993720	168993720	Human		name
152141695	CV1526543	single nucleotide variant	NM_003742.4(ABCB11):c.657T>C (p.Leu219=)	not provided [RCV002084239]	likely benign	2	168993837	168993837	Human		name
152150182	CV1531248	single nucleotide variant	NM_003742.4(ABCB11):c.396G>T (p.Leu132=)	not provided [RCV002201844]	likely benign	2	168996716	168996716	Human		name
152086227	CV1531692	single nucleotide variant	NM_003742.4(ABCB11):c.492C>T (p.Val164=)	not provided [RCV002077019]	likely benign	2	168995468	168995468	Human		name
152051501	CV1538694	single nucleotide variant	NM_003742.4(ABCB11):c.729G>A (p.Leu243=)	not provided [RCV002189468]	likely benign	2	168993765	168993765	Human		name
152026476	CV1550300	single nucleotide variant	NM_003742.4(ABCB11):c.849A>G (p.Glu283=)	not provided [RCV002185167]	likely benign	2	168990860	168990860	Human		name
152084625	CV1554929	single nucleotide variant	NM_003742.4(ABCB11):c.933C>T (p.Ala311=)	not provided [RCV002211876]	likely benign	2	168986260	168986260	Human		name
152116578	CV1569652	single nucleotide variant	NM_003742.4(ABCB11):c.789G>C (p.Val263=)	not provided [RCV002117273]	likely benign	2	168990920	168990920	Human		name
152140779	CV1571255	single nucleotide variant	NM_003742.4(ABCB11):c.360C>T (p.Asn120=)	not provided [RCV002138147]	likely benign	2	169013301	169013301	Human		name
152171740	CV1575598	single nucleotide variant	NM_003742.4(ABCB11):c.372A>T (p.Thr124=)	not provided [RCV002183602]	likely benign	2	169013289	169013289	Human		name
152086818	CV1578208	single nucleotide variant	NM_003742.4(ABCB11):c.327T>C (p.Asn109=)	not provided [RCV002171279]	likely benign	2	169013334	169013334	Human		name
152065620	CV1583475	single nucleotide variant	NM_003742.4(ABCB11):c.537T>C (p.Phe179=)	not provided [RCV002110746]	likely benign	2	168995423	168995423	Human		name
152118251	CV1594884	single nucleotide variant	NM_003742.4(ABCB11):c.822T>C (p.Tyr274=)	not provided [RCV002197692]	likely benign	2	168990887	168990887	Human		name
152146724	CV1600074	single nucleotide variant	NM_003742.4(ABCB11):c.588G>C (p.Gly196=)	not provided [RCV002138906]	likely benign	2	168995372	168995372	Human		name
152162987	CV1600682	single nucleotide variant	NM_003742.4(ABCB11):c.534C>T (p.Tyr178=)	not provided [RCV002141247]	likely benign	2	168995426	168995426	Human		name
152169382	CV1614219	single nucleotide variant	NM_003742.4(ABCB11):c.618T>C (p.Ile206=)	not provided [RCV002161426]	likely benign	2	168993876	168993876	Human		name
152131661	CV1631160	single nucleotide variant	NM_003742.4(ABCB11):c.417C>A (p.Ile139=)	not provided [RCV002119163]	likely benign	2	168996695	168996695	Human		name
152165511	CV1649299	single nucleotide variant	NM_003742.4(ABCB11):c.588G>A (p.Gly196=)	not provided [RCV002204259]	likely benign	2	168995372	168995372	Human		name
152029340	CV1653177	single nucleotide variant	NM_003742.4(ABCB11):c.858A>G (p.Ser286=)	not provided [RCV002085771]	likely benign	2	168990851	168990851	Human		name
152130405	CV1655048	single nucleotide variant	NM_003742.4(ABCB11):c.330C>T (p.Asn110=)	not provided [RCV002217991]	likely benign	2	169013331	169013331	Human		name
10047657	CV190825	single nucleotide variant	NM_003742.4(ABCB11):c.957A>G (p.Gly319=)	Progressive familial intrahepatic cholestasis type 2 [RCV000379562]\|not provided [RCV001511203]\|not specified [RCV000173784]	benign	2	168986236	168986236	Human	1	name
156204150	CV1913041	single nucleotide variant	NM_003742.4(ABCB11):c.678G>A (p.Ser226=)	not provided [RCV002595814]	likely benign	2	168993816	168993816	Human		name
156245018	CV1973383	single nucleotide variant	NM_003742.4(ABCB11):c.375T>C (p.Asn125=)	not provided [RCV002597277]	likely benign	2	169013286	169013286	Human		name
156388021	CV1983059	single nucleotide variant	NM_003742.4(ABCB11):c.351T>C (p.Ser117=)	not provided [RCV002634751]	likely benign	2	169013310	169013310	Human		name
156056109	CV2023890	single nucleotide variant	NM_003742.4(ABCB11):c.318A>G (p.Ala106=)	not provided [RCV002736671]	likely benign	2	169013343	169013343	Human		name
156068239	CV2050799	single nucleotide variant	NM_003742.4(ABCB11):c.597T>C (p.Asn199=)	not provided [RCV002797322]	likely benign	2	168995363	168995363	Human		name
155943261	CV2051294	single nucleotide variant	NM_003742.4(ABCB11):c.468A>G (p.Gly156=)	not provided [RCV002815829]	likely benign	2	168996644	168996644	Human		name
156088521	CV2056841	single nucleotide variant	NM_003742.4(ABCB11):c.438T>C (p.Ala146=)	not provided [RCV002824097]	likely benign	2	168996674	168996674	Human		name
156287998	CV2058222	single nucleotide variant	NM_003742.4(ABCB11):c.954A>G (p.Lys318=)	not provided [RCV002833083]	likely benign	2	168986239	168986239	Human		name
156324532	CV2072254	single nucleotide variant	NM_003742.4(ABCB11):c.948T>C (p.Ile316=)	not provided [RCV002834928]	likely benign	2	168986245	168986245	Human		name
155934821	CV2138684	single nucleotide variant	NM_003742.4(ABCB11):c.324G>A (p.Val108=)	not provided [RCV002993637]	likely benign	2	169013337	169013337	Human		name
155912672	CV2148525	single nucleotide variant	NM_003742.4(ABCB11):c.391T>C (p.Leu131=)	not provided [RCV002991435]	likely benign	2	168996721	168996721	Human		name
156357936	CV2162163	single nucleotide variant	NM_003742.4(ABCB11):c.852C>A (p.Val284=)	not provided [RCV003031360]	likely benign	2	168990857	168990857	Human		name
156009506	CV2175838	single nucleotide variant	NM_003742.4(ABCB11):c.870A>T (p.Thr290=)	not provided [RCV003035164]	likely benign	2	168990839	168990839	Human		name
11545739	CV250366	single nucleotide variant	NM_003742.4(ABCB11):c.807T>C (p.Tyr269=)	Progressive familial intrahepatic cholestasis type 2 [RCV000346202]\|not provided [RCV001520903]\|not specified [RCV000245546]	benign	2	168990902	168990902	Human	1	name
11549584	CV250368	single nucleotide variant	NM_003742.4(ABCB11):c.402C>T (p.Ile134=)	Progressive familial intrahepatic cholestasis type 2 [RCV000307022]\|not provided [RCV001515147]\|not specified [RCV000250606]	benign\|likely benign	2	168996710	168996710	Human	4	name
11549584	CV250368	single nucleotide variant	NM_003742.4(ABCB11):c.402C>T (p.Ile134=)	Progressive familial intrahepatic cholestasis type 2 [RCV000307022]\|not provided [RCV001515147]\|not specified [RCV000250606]	benign\|likely benign	2	168996710	168996711	Human	4	name
11578616	CV273775	single nucleotide variant	NM_003742.4(ABCB11):c.930C>T (p.Phe310=)	Progressive familial intrahepatic cholestasis type 2 [RCV000285586]\|not provided [RCV000726340]\|not specified [RCV000266807]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168986263	168986263	Human	1	name
11637088	CV274211	single nucleotide variant	NM_003742.4(ABCB11):c.408C>T (p.Ser136=)	ABCB11-related disorder [RCV003949942]\|Progressive familial intrahepatic cholestasis type 2 [RCV001135476]\|not provided [RCV000726407]\|not specified [RCV000278769]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168996704	168996704	Human	1	name , alternate_id
401949705	CV2833979	single nucleotide variant	NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)	Benign recurrent intrahepatic cholestasis type 2 [RCV003475576]\|not provided [RCV003779006]	pathogenic\|likely pathogenic	2	169018061	169018061	Human	1	name
11578897	CV283407	single nucleotide variant	NM_003742.4(ABCB11):c.810G>A (p.Glu270=)	Progressive familial intrahepatic cholestasis type 2 [RCV000291401]\|not provided [RCV000979484]	likely benign\|uncertain significance	2	168990899	168990899	Human	1	name
401961466	CV2843784	single nucleotide variant	NM_003742.4(ABCB11):c.390G>T (p.Gly130=)	Progressive familial intrahepatic cholestasis type 2 [RCV005254811]\|not provided [RCV003481622]	uncertain significance	2	168996722	168996722	Human	1	name
404977207	CV2848871	single nucleotide variant	NM_003742.4(ABCB11):c.721C>T (p.Leu241=)	Progressive familial intrahepatic cholestasis type 2 [RCV003485987]	pathogenic\|conflicting interpretations of pathogenicity	2	168993773	168993773	Human	1	name
402479917	CV2863892	single nucleotide variant	NM_003742.4(ABCB11):c.969A>T (p.Gly323=)	not provided [RCV003543910]	likely benign	2	168986224	168986224	Human		name
402494859	CV2874477	single nucleotide variant	NM_003742.4(ABCB11):c.801G>C (p.Thr267=)	not provided [RCV003545291]	likely benign	2	168990908	168990908	Human		name
405227791	CV2894370	single nucleotide variant	NM_003742.4(ABCB11):c.74C>A (p.Ser25Ter)	not provided [RCV003554973]	pathogenic	2	169018052	169018052	Human		name
405135971	CV2896891	single nucleotide variant	NM_003742.4(ABCB11):c.732T>A (p.Val244=)	not provided [RCV003560385]	likely benign	2	168993762	168993762	Human		name
405170623	CV2897371	single nucleotide variant	NM_003742.4(ABCB11):c.882T>C (p.Phe294=)	not provided [RCV003563093]	likely benign	2	168990827	168990827	Human		name
405167046	CV2900897	single nucleotide variant	NM_003742.4(ABCB11):c.438T>A (p.Ala146=)	not provided [RCV003562825]	likely benign	2	168996674	168996674	Human		name
402519292	CV2946203	single nucleotide variant	NM_003742.4(ABCB11):c.696G>A (p.Leu232=)	not provided [RCV003663180]	likely benign	2	168993798	168993798	Human		name
405134355	CV2957900	single nucleotide variant	NM_003742.4(ABCB11):c.471T>C (p.Tyr157=)	not provided [RCV003672683]	likely benign	2	168996641	168996641	Human		name
405244984	CV2972627	single nucleotide variant	NM_003742.4(ABCB11):c.564G>A (p.Gly188=)	not provided [RCV003684944]	likely benign	2	168995396	168995396	Human		name
405232356	CV2985304	single nucleotide variant	NM_003742.4(ABCB11):c.525A>G (p.Arg175=)	not provided [RCV003711731]	likely benign	2	168995435	168995435	Human		name
405254829	CV2988954	single nucleotide variant	NM_003742.4(ABCB11):c.735T>C (p.Ile245=)	not provided [RCV003723190]	likely benign	2	168993759	168993759	Human		name
405248627	CV2990294	single nucleotide variant	NM_003742.4(ABCB11):c.309A>G (p.Pro103=)	not provided [RCV003685959]	likely benign	2	169013352	169013352	Human		name
402485560	CV2998840	single nucleotide variant	NM_003742.4(ABCB11):c.870A>C (p.Thr290=)	not provided [RCV003687017]	likely benign	2	168990839	168990839	Human		name
405047774	CV3028941	single nucleotide variant	NM_003742.4(ABCB11):c.837G>A (p.Val279=)	not provided [RCV003696782]	likely benign	2	168990872	168990872	Human		name
405119824	CV3030642	single nucleotide variant	NM_003742.4(ABCB11):c.336T>C (p.Ile112=)	not provided [RCV003700577]	likely benign	2	169013325	169013325	Human		name
405069950	CV3037496	single nucleotide variant	NM_003742.4(ABCB11):c.786T>C (p.Ser262=)	not provided [RCV003698259]	likely benign	2	168990923	168990923	Human		name
405196273	CV3037707	single nucleotide variant	NM_003742.4(ABCB11):c.978T>C (p.Thr326=)	not provided [RCV003706948]	likely benign	2	168986215	168986215	Human		name
405250837	CV3053166	single nucleotide variant	NM_003742.4(ABCB11):c.70A>G (p.Lys24Glu)	not provided [RCV003721732]	likely benign	2	169018056	169018056	Human		name
405202900	CV3067055	single nucleotide variant	NM_003742.4(ABCB11):c.603A>G (p.Arg201=)	ABCB11-related disorder [RCV003956516]\|not provided [RCV003730906]	likely benign	2	168995357	168995357	Human	1	name , alternate_id
405088232	CV3122173	single nucleotide variant	NM_003742.4(ABCB11):c.951A>G (p.Arg317=)	not provided [RCV003810928]	likely benign	2	168986242	168986242	Human		name
405186842	CV3124359	deletion	NM_003742.4(ABCB11):c.1198-14_1198-13del	not provided [RCV003820558]	likely benign	2	168976700	168976701	Human		name
405258907	CV3215163	single nucleotide variant	NM_003742.4(ABCB11):c.678G>T (p.Ser226=)	ABCB11-related disorder [RCV003942210]	likely benign	2	168993816	168993816	Human		name , trait , alternate_id
597836948	CV3761415	single nucleotide variant	NM_003742.4(ABCB11):c.891G>A (p.Glu297=)	not provided [RCV005085786]	likely benign	2	168990818	168990818	Human		name
597847751	CV3775621	deletion	NM_003742.4(ABCB11):c.265del (p.Val89fs)	not provided [RCV005123352]	pathogenic	2	169013396	169013396	Human		name
597883245	CV3807841	single nucleotide variant	NM_003742.4(ABCB11):c.384T>C (p.Arg128=)	not provided [RCV005158220]	likely benign	2	169013277	169013277	Human		name
598228291	CV3893033	single nucleotide variant	NM_003742.4(ABCB11):c.99G>C (p.Arg33Ser)	Progressive familial intrahepatic cholestasis type 2 [RCV005255360]	uncertain significance	2	169014354	169014354	Human	1	name
598228298	CV3893034	single nucleotide variant	NM_003742.4(ABCB11):c.55G>C (p.Gly19Arg)	Progressive familial intrahepatic cholestasis type 2 [RCV005255361]	uncertain significance	2	169018071	169018071	Human	1	name
13522394	CV491566	single nucleotide variant	NM_003742.4(ABCB11):c.76T>A (p.Tyr26Asn)	not provided [RCV000591684]	uncertain significance	2	169018050	169018050	Human		name
13517881	CV492848	single nucleotide variant	NM_003742.4(ABCB11):c.477A>G (p.Gln159=)	ABCB11-related disorder [RCV003927936]\|not provided [RCV000727348]\|not specified [RCV000596910]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168996635	168996635	Human	1	name , alternate_id
13516398	CV492852	single nucleotide variant	NM_003742.4(ABCB11):c.711G>A (p.Arg237=)	not provided [RCV000595478]	conflicting interpretations of pathogenicity\|uncertain significance	2	168993783	168993783	Human		name
13536733	CV499016	single nucleotide variant	NM_003742.4(ABCB11):c.801G>A (p.Thr267=)	not provided [RCV001419886]\|not specified [RCV000609419]	likely benign	2	168990908	168990908	Human		name
13833003	CV584230	single nucleotide variant	NM_003742.4(ABCB11):c.399C>T (p.Asn133=)	not provided [RCV000928849]\|not specified [RCV000728130]	benign	2	168996713	168996713	Human		name
13837701	CV588991	single nucleotide variant	NM_003742.4(ABCB11):c.585G>C (p.Val195=)	ABCB11-related disorder [RCV004742623]\|not provided [RCV000734190]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168995375	168995375	Human	1	name , alternate_id
15101334	CV780947	single nucleotide variant	NM_003742.4(ABCB11):c.498C>T (p.Ala166=)	not provided [RCV000975566]	likely benign	2	168995462	168995462	Human		name
28879253	CV881423	single nucleotide variant	NM_003742.4(ABCB11):c.681C>A (p.Thr227=)	Progressive familial intrahepatic cholestasis type 2 [RCV001135472]\|not provided [RCV005093602]	likely benign\|uncertain significance	2	168993813	168993813	Human	1	name
28879256	CV881424	single nucleotide variant	NM_003742.4(ABCB11):c.585G>A (p.Val195=)	Progressive familial intrahepatic cholestasis type 2 [RCV001135473]\|not provided [RCV001432576]	likely benign\|uncertain significance	2	168995375	168995375	Human	1	name
40906094	CV977641	single nucleotide variant	NM_003742.4(ABCB11):c.394C>T (p.Leu132=)	Progressive familial intrahepatic cholestasis type 2 [RCV001279419]\|not provided [RCV002069459]	likely benign\|uncertain significance	2	168996718	168996718	Human	1	name
127321994	CV1111517	single nucleotide variant	NM_003742.4(ABCB11):c.2916G>A (p.Lys972=)	not provided [RCV001467428]	likely benign	2	168935324	168935324	Human		name
127315133	CV1111522	single nucleotide variant	NM_003742.4(ABCB11):c.2700G>C (p.Leu900=)	not provided [RCV001457917]	likely benign	2	168936344	168936344	Human		name
127330788	CV1111524	single nucleotide variant	NM_003742.4(ABCB11):c.2520G>T (p.Leu840=)	ABCB11-related disorder [RCV003980391]\|not provided [RCV001471146]	likely benign	2	168944695	168944695	Human	1	name , alternate_id
127333539	CV1111525	single nucleotide variant	NM_003742.4(ABCB11):c.2454T>C (p.Tyr818=)	not provided [RCV001472999]	likely benign	2	168944761	168944761	Human		name
127328821	CV1111529	single nucleotide variant	NM_003742.4(ABCB11):c.2295C>T (p.Asn765=)	not provided [RCV001469826]	likely benign	2	168958012	168958012	Human		name
127314697	CV1111535	single nucleotide variant	NM_003742.4(ABCB11):c.1674G>A (p.Gln558=)	not provided [RCV001465043]	likely benign	2	168970180	168970180	Human		name
127315436	CV1111538	single nucleotide variant	NM_003742.4(ABCB11):c.1380A>G (p.Gly460=)	not provided [RCV001457981]	likely benign	2	168973769	168973769	Human		name
127335450	CV1111540	single nucleotide variant	NM_003742.4(ABCB11):c.1248C>T (p.Ile416=)	not provided [RCV001474306]	likely benign	2	168976637	168976637	Human		name
127334754	CV1132418	single nucleotide variant	NM_003742.4(ABCB11):c.2568A>G (p.Ala856=)	not provided [RCV001491088]	likely benign	2	168944647	168944647	Human		name
127325289	CV1132421	single nucleotide variant	NM_003742.4(ABCB11):c.2193T>G (p.Pro731=)	ABCB11-related disorder [RCV003940881]\|not provided [RCV001505975]	likely benign	2	168958114	168958114	Human	1	name , alternate_id
127329255	CV1132425	single nucleotide variant	NM_003742.4(ABCB11):c.1701A>C (p.Val567=)	not provided [RCV001487315]	likely benign	2	168970153	168970153	Human		name
127332521	CV1132428	single nucleotide variant	NM_003742.4(ABCB11):c.1293C>T (p.Ser431=)	not provided [RCV001489531]	likely benign	2	168976592	168976592	Human		name
151780997	CV1369578	deletion	NM_003742.4(ABCB11):c.532del (p.Tyr178fs)	not provided [RCV001930440]	pathogenic	2	168995428	168995428	Human		name
151739566	CV1437627	single nucleotide variant	NM_003742.4(ABCB11):c.1098C>T (p.Val366=)	ABCB11-related disorder [RCV003976245]\|not provided [RCV001870886]	likely benign	2	168979965	168979965	Human	1	name , alternate_id
151873440	CV1445103	single nucleotide variant	NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter)	Progressive familial intrahepatic cholestasis type 2 [RCV005253970]\|not provided [RCV001960745]	pathogenic\|likely pathogenic	2	169013497	169013497	Human	1	name
151883918	CV1451440	duplication	NM_003742.4(ABCB11):c.625dup (p.Ile209fs)	not provided [RCV001941613]	pathogenic	2	168993868	168993869	Human		name
151761333	CV1458167	deletion	NM_003742.4(ABCB11):c.843del (p.Asp282fs)	not provided [RCV001970225]	pathogenic	2	168990866	168990866	Human		name
152055142	CV1521995	single nucleotide variant	NM_003742.4(ABCB11):c.2883A>G (p.Glu961=)	not provided [RCV002189870]	likely benign	2	168935357	168935357	Human		name
152052957	CV1531892	single nucleotide variant	NM_003742.4(ABCB11):c.2872C>A (p.Arg958=)	not provided [RCV002072609]	likely benign	2	168935368	168935368	Human		name
152060249	CV1532857	single nucleotide variant	NM_003742.4(ABCB11):c.1542A>G (p.Glu514=)	not provided [RCV002208567]	likely benign	2	168971943	168971943	Human		name
152046035	CV1539555	single nucleotide variant	NM_003742.4(ABCB11):c.2778C>A (p.Ala926=)	not provided [RCV002145092]	likely benign	2	168936266	168936266	Human		name
152076061	CV1542724	single nucleotide variant	NM_003742.4(ABCB11):c.1821G>A (p.Gly607=)	not provided [RCV002130234]	likely benign	2	168969540	168969540	Human		name
152082309	CV1548426	single nucleotide variant	NM_003742.4(ABCB11):c.2079T>C (p.Ala693=)	not provided [RCV002076534]	likely benign	2	168964305	168964305	Human		name
152048263	CV1549725	single nucleotide variant	NM_003742.4(ABCB11):c.1407G>A (p.Gln469=)	not provided [RCV002166530]	likely benign	2	168973742	168973742	Human		name
152046974	CV1556337	single nucleotide variant	NM_003742.4(ABCB11):c.1209T>A (p.Ile403=)	not provided [RCV002207035]	likely benign	2	168976676	168976676	Human		name
152151584	CV1559701	single nucleotide variant	NM_003742.4(ABCB11):c.1965T>G (p.Thr655=)	not provided [RCV002220899]	likely benign	2	168969396	168969396	Human		name
152151885	CV1559764	single nucleotide variant	NM_003742.4(ABCB11):c.1485A>G (p.Arg495=)	not provided [RCV002220946]	likely benign	2	168972000	168972000	Human		name
152090201	CV1563239	single nucleotide variant	NM_003742.4(ABCB11):c.1716C>T (p.Ala572=)	not provided [RCV002113973]	likely benign	2	168970138	168970138	Human		name
152110822	CV1564122	single nucleotide variant	NM_003742.4(ABCB11):c.2592T>C (p.Asp864=)	not provided [RCV002174313]	likely benign	2	168944623	168944623	Human		name
152125254	CV1565541	single nucleotide variant	NM_003742.4(ABCB11):c.2731T>C (p.Leu911=)	not provided [RCV002136231]	likely benign	2	168936313	168936313	Human		name
152131217	CV1567970	single nucleotide variant	NM_003742.4(ABCB11):c.1323C>T (p.Leu441=)	not provided [RCV002218098]	likely benign	2	168973826	168973826	Human		name
152167971	CV1577587	single nucleotide variant	NM_003742.4(ABCB11):c.1519C>T (p.Leu507=)	not provided [RCV002204848]	likely benign	2	168971966	168971966	Human		name
152175892	CV1580150	single nucleotide variant	NM_003742.4(ABCB11):c.1842T>A (p.Ala614=)	not provided [RCV002164030]	likely benign	2	168969519	168969519	Human		name
152128265	CV1584104	single nucleotide variant	NM_003742.4(ABCB11):c.2475G>A (p.Glu825=)	not provided [RCV002082515]	likely benign	2	168944740	168944740	Human		name
152130294	CV1584457	single nucleotide variant	NM_003742.4(ABCB11):c.1599G>A (p.Lys533=)	not provided [RCV002082773]	likely benign	2	168971886	168971886	Human		name
152118867	CV1589006	single nucleotide variant	NM_003742.4(ABCB11):c.1554T>C (p.Tyr518=)	not provided [RCV002216509]	likely benign	2	168971931	168971931	Human		name
152123293	CV1594245	single nucleotide variant	NM_003742.4(ABCB11):c.1398A>G (p.Gln466=)	not provided [RCV002175865]	likely benign	2	168973751	168973751	Human		name
152066075	CV1601582	single nucleotide variant	NM_003742.4(ABCB11):c.1452T>C (p.His484=)	not provided [RCV002168680]	likely benign	2	168972033	168972033	Human		name
152153211	CV1610185	single nucleotide variant	NM_003742.4(ABCB11):c.2127A>G (p.Glu709=)	not provided [RCV002179773]	likely benign	2	168964257	168964257	Human		name
152165306	CV1611319	single nucleotide variant	NM_003742.4(ABCB11):c.1206C>A (p.Ile402=)	not provided [RCV002141694]	likely benign	2	168976679	168976679	Human		name
152098151	CV1611664	single nucleotide variant	NM_003742.4(ABCB11):c.2202A>G (p.Glu734=)	not provided [RCV002172745]	likely benign	2	168958105	168958105	Human		name
152120183	CV1612262	single nucleotide variant	NM_003742.4(ABCB11):c.2130T>C (p.Pro710=)	not provided [RCV002135611]	likely benign	2	168964254	168964254	Human		name
152106477	CV1612815	single nucleotide variant	NM_003742.4(ABCB11):c.2724C>T (p.Phe908=)	not provided [RCV002173782]	likely benign	2	168936320	168936320	Human		name
152160282	CV1616527	single nucleotide variant	NM_003742.4(ABCB11):c.2764T>C (p.Leu922=)	not provided [RCV002123063]	likely benign	2	168936280	168936280	Human		name
152080877	CV1619240	single nucleotide variant	NM_003742.4(ABCB11):c.2208T>G (p.Val736=)	not provided [RCV002092824]	likely benign	2	168958099	168958099	Human		name
152161591	CV1622092	single nucleotide variant	NM_003742.4(ABCB11):c.1998A>G (p.Glu666=)	not provided [RCV002203527]	likely benign	2	168969363	168969363	Human		name
152030688	CV1622297	single nucleotide variant	NM_003742.4(ABCB11):c.1711A>C (p.Arg571=)	not provided [RCV002186532]	likely benign	2	168970143	168970143	Human		name
152115420	CV1628224	single nucleotide variant	NM_003742.4(ABCB11):c.1515A>G (p.Pro505=)	not provided [RCV002197333]	likely benign	2	168971970	168971970	Human		name
152125269	CV1630153	single nucleotide variant	NM_003742.4(ABCB11):c.2037G>T (p.Ala679=)	not provided [RCV002154783]	likely benign	2	168968465	168968465	Human		name
152147249	CV1635605	single nucleotide variant	NM_003742.4(ABCB11):c.1272T>C (p.Asn424=)	not provided [RCV002201419]	likely benign	2	168976613	168976613	Human		name
152150353	CV1636228	single nucleotide variant	NM_003742.4(ABCB11):c.1506G>A (p.Glu502=)	not provided [RCV002102134]	likely benign	2	168971979	168971979	Human		name
152043591	CV1637710	single nucleotide variant	NM_003742.4(ABCB11):c.1467T>C (p.Leu489=)	not provided [RCV002144821]	likely benign	2	168972018	168972018	Human		name
152134302	CV1638368	single nucleotide variant	NM_003742.4(ABCB11):c.1740G>T (p.Leu580=)	not provided [RCV002083293]	likely benign	2	168970114	168970114	Human		name
152069021	CV1640102	single nucleotide variant	NM_003742.4(ABCB11):c.1698G>A (p.Arg566=)	not provided [RCV002147823]	likely benign	2	168970156	168970156	Human		name
152125068	CV1646115	single nucleotide variant	NM_003742.4(ABCB11):c.1539A>C (p.Ala513=)	not provided [RCV002217288]	likely benign	2	168971946	168971946	Human		name
152163776	CV1646756	single nucleotide variant	NM_003742.4(ABCB11):c.1128C>T (p.Ala376=)	not provided [RCV002160115]	likely benign	2	168979935	168979935	Human		name
152057129	CV1647371	single nucleotide variant	NM_003742.4(ABCB11):c.1320C>T (p.Asp440=)	not provided [RCV002208229]	likely benign	2	168973829	168973829	Human		name
152165085	CV1648931	single nucleotide variant	NM_003742.4(ABCB11):c.1605C>A (p.Ala535=)	not provided [RCV002204167]	likely benign	2	168971880	168971880	Human		name
152137924	CV1652460	single nucleotide variant	NM_003742.4(ABCB11):c.2235G>A (p.Leu745=)	not provided [RCV002083765]	likely benign	2	168958072	168958072	Human		name
152144203	CV1658097	single nucleotide variant	NM_003742.4(ABCB11):c.1305G>C (p.Val435=)	not provided [RCV002219785]	likely benign	2	168976580	168976580	Human		name
152117962	CV1658960	single nucleotide variant	NM_003742.4(ABCB11):c.2394G>A (p.Val798=)	not provided [RCV002175188]	likely benign	2	168944911	168944911	Human		name
153348949	CV1693018	single nucleotide variant	NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)	Progressive familial intrahepatic cholestasis type 2 [RCV002274858]\|not provided [RCV003481270]	uncertain significance	2	168944857	168944857	Human	1	name
156409204	CV1877709	single nucleotide variant	NM_003742.4(ABCB11):c.1635A>G (p.Pro545=)	not provided [RCV003071569]	likely benign	2	168971850	168971850	Human		name
156367506	CV1909455	single nucleotide variant	NM_003742.4(ABCB11):c.1005G>A (p.Leu335=)	not provided [RCV002602924]	likely benign	2	168986188	168986188	Human		name
156215103	CV1931011	single nucleotide variant	NM_003742.4(ABCB11):c.2706G>A (p.Leu902=)	not provided [RCV002644166]	likely benign	2	168936338	168936338	Human		name
156074013	CV1955714	single nucleotide variant	NM_003742.4(ABCB11):c.2952C>T (p.Cys984=)	not provided [RCV002569695]	likely benign	2	168935288	168935288	Human		name
156230566	CV1955979	single nucleotide variant	NM_003742.4(ABCB11):c.2451A>G (p.Gly817=)	not provided [RCV002575856]	likely benign	2	168944764	168944764	Human		name
156282940	CV1964456	single nucleotide variant	NM_003742.4(ABCB11):c.2172T>C (p.Asp724=)	not provided [RCV002577537]	likely benign	2	168964212	168964212	Human		name
156322628	CV1976262	single nucleotide variant	NM_003742.4(ABCB11):c.1158A>T (p.Gly386=)	not provided [RCV002600331]	likely benign	2	168979905	168979905	Human		name
156218709	CV1980473	single nucleotide variant	NM_003742.4(ABCB11):c.2739A>G (p.Leu913=)	ABCB11-related disorder [RCV003971345]\|not provided [RCV002626365]	likely benign	2	168936305	168936305	Human	1	name , alternate_id
155916299	CV1980892	single nucleotide variant	NM_003742.4(ABCB11):c.1227T>C (p.Asp409=)	not provided [RCV002614329]	likely benign	2	168976658	168976658	Human		name
155962285	CV2023766	single nucleotide variant	NM_003742.4(ABCB11):c.2238A>G (p.Lys746=)	not provided [RCV002731233]	likely benign	2	168958069	168958069	Human		name
156268024	CV2026729	single nucleotide variant	NM_003742.4(ABCB11):c.2574A>T (p.Thr858=)	not provided [RCV002746541]	likely benign	2	168944641	168944641	Human		name
155991149	CV2026979	single nucleotide variant	NM_003742.4(ABCB11):c.2991T>G (p.Ser997=)	not provided [RCV002755754]	likely benign	2	168935249	168935249	Human		name
156131863	CV2036600	single nucleotide variant	NM_003742.4(ABCB11):c.2727C>T (p.Pro909=)	not provided [RCV002786203]	likely benign	2	168936317	168936317	Human		name
156027373	CV2039674	single nucleotide variant	NM_003742.4(ABCB11):c.2112T>C (p.Ser704=)	not provided [RCV002780959]	likely benign	2	168964272	168964272	Human		name
156171470	CV2041640	single nucleotide variant	NM_003742.4(ABCB11):c.1158A>G (p.Gly386=)	not provided [RCV002741873]	likely benign	2	168979905	168979905	Human		name
156283505	CV2051549	single nucleotide variant	NM_003742.4(ABCB11):c.1596C>T (p.Ala532=)	not provided [RCV002832923]	likely benign	2	168971889	168971889	Human		name
156292236	CV2055416	single nucleotide variant	NM_003742.4(ABCB11):c.2478C>T (p.Leu826=)	not provided [RCV002833253]	likely benign	2	168944737	168944737	Human		name
156258166	CV2056959	single nucleotide variant	NM_003742.4(ABCB11):c.2088G>T (p.Arg696=)	not provided [RCV002791923]	likely benign	2	168964296	168964296	Human		name
156050826	CV2068393	single nucleotide variant	NM_003742.4(ABCB11):c.2187C>T (p.Asp729=)	not provided [RCV002846430]	likely benign	2	168958120	168958120	Human		name
156214647	CV2070591	single nucleotide variant	NM_003742.4(ABCB11):c.1668A>G (p.Gly556=)	not provided [RCV002829442]	likely benign	2	168970186	168970186	Human		name
155974728	CV2079433	single nucleotide variant	NM_003742.4(ABCB11):c.2145A>G (p.Val715=)	not provided [RCV002881649]	likely benign	2	168964239	168964239	Human		name
155964895	CV2080686	single nucleotide variant	NM_003742.4(ABCB11):c.1707C>A (p.Ile569=)	not provided [RCV002863035]	likely benign	2	168970147	168970147	Human		name
156134462	CV2085740	single nucleotide variant	NM_003742.4(ABCB11):c.1056A>G (p.Gly352=)	not provided [RCV002871755]	likely benign	2	168986137	168986137	Human		name
155980731	CV2090374	single nucleotide variant	NM_003742.4(ABCB11):c.1521G>A (p.Leu507=)	not provided [RCV002881921]	likely benign	2	168971964	168971964	Human		name
156012219	CV2096279	single nucleotide variant	NM_003742.4(ABCB11):c.2289T>A (p.Ala763=)	not provided [RCV002909172]	likely benign	2	168958018	168958018	Human		name
156261370	CV2100647	single nucleotide variant	NM_003742.4(ABCB11):c.2001G>A (p.Glu667=)	not provided [RCV002877284]	likely benign	2	168969360	168969360	Human		name
156320556	CV2100957	single nucleotide variant	NM_003742.4(ABCB11):c.2323T>C (p.Leu775=)	not provided [RCV002899260]	likely benign	2	168957984	168957984	Human		name
156320945	CV2123779	single nucleotide variant	NM_003742.4(ABCB11):c.2550C>G (p.Leu850=)	not provided [RCV002963191]	likely benign	2	168944665	168944665	Human		name
156125141	CV2124859	single nucleotide variant	NM_003742.4(ABCB11):c.2373A>G (p.Gln791=)	not provided [RCV002953656]	likely benign	2	168944932	168944932	Human		name
156216850	CV2128030	single nucleotide variant	NM_003742.4(ABCB11):c.2346T>G (p.Thr782=)	not provided [RCV002957980]	likely benign	2	168944959	168944959	Human		name
155948734	CV2132926	single nucleotide variant	NM_003742.4(ABCB11):c.2226G>A (p.Arg742=)	not provided [RCV002994503]	likely benign	2	168958081	168958081	Human		name
156109071	CV2145870	single nucleotide variant	NM_003742.4(ABCB11):c.2043C>T (p.Thr681=)	not provided [RCV003021333]	likely benign	2	168968459	168968459	Human		name
156333632	CV2172053	single nucleotide variant	NM_003742.4(ABCB11):c.2832C>T (p.Leu944=)	not provided [RCV003029906]	likely benign	2	168935408	168935408	Human		name
156333673	CV2172057	single nucleotide variant	NM_003742.4(ABCB11):c.2661T>G (p.Thr887=)	not provided [RCV003029908]	likely benign	2	168936383	168936383	Human		name
156248319	CV2174429	single nucleotide variant	NM_003742.4(ABCB11):c.2139T>C (p.Ala713=)	not provided [RCV003043697]	likely benign	2	168964245	168964245	Human		name
156161751	CV2191871	single nucleotide variant	NM_003742.4(ABCB11):c.2547C>T (p.Asp849=)	not provided [RCV003040735]	likely benign	2	168944668	168944668	Human		name
329381326	CV2464636	single nucleotide variant	NM_003742.4(ABCB11):c.284T>C (p.Val95Ala)	Inborn genetic diseases [RCV003213023]	uncertain significance	2	169013377	169013377	Human	1	name
401948255	CV2835597	deletion	NM_003742.4(ABCB11):c.798del (p.Phe266fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV003466654]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005021983]	likely pathogenic	2	168990911	168990911	Human	1	name
401941021	CV2838688	single nucleotide variant	NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)	Benign recurrent intrahepatic cholestasis type 2 [RCV003460265]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005021992]\|not provided [RCV003732600]\|not specified [RCV004587502]	likely pathogenic\|likely benign\|uncertain significance	2	168944887	168944887	Human	1	name
401949674	CV2838874	duplication	NM_003742.4(ABCB11):c.884dup (p.Gly296fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV003474499]\|not provided [RCV003699115]	pathogenic\|likely pathogenic	2	168990824	168990825	Human	1	name
401949801	CV2839097	duplication	NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV003475673]	likely pathogenic	2	168996679	168996680	Human	1	name
401940360	CV2839212	single nucleotide variant	NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)	Progressive familial intrahepatic cholestasis [RCV005419629]\|Progressive familial intrahepatic cholestasis type 2 [RCV003448770]	likely pathogenic\|uncertain significance	2	168970045	168970045	Human	2	name
405174680	CV2863461	single nucleotide variant	NM_003742.4(ABCB11):c.1917C>G (p.Thr639=)	not provided [RCV003542631]	likely benign	2	168969444	168969444	Human		name
402487040	CV2865474	single nucleotide variant	NM_003742.4(ABCB11):c.1138T>C (p.Leu380=)	not provided [RCV003544577]	likely benign	2	168979925	168979925	Human		name
405210877	CV2867900	single nucleotide variant	NM_003742.4(ABCB11):c.1731C>T (p.Pro577=)	not provided [RCV003552581]	likely benign	2	168970123	168970123	Human		name
405208665	CV2870418	single nucleotide variant	NM_003742.4(ABCB11):c.2121G>A (p.Val707=)	not provided [RCV003552187]	likely benign	2	168964263	168964263	Human		name
402517944	CV2870807	single nucleotide variant	NM_003742.4(ABCB11):c.1923A>G (p.Glu641=)	not provided [RCV003547541]	likely benign	2	168969438	168969438	Human		name
402518124	CV2870839	single nucleotide variant	NM_003742.4(ABCB11):c.1092C>A (p.Leu364=)	not provided [RCV003547553]	likely benign	2	168979971	168979971	Human		name
405198561	CV2876797	single nucleotide variant	NM_003742.4(ABCB11):c.2631G>A (p.Gly877=)	not provided [RCV003551147]	likely benign	2	168936413	168936413	Human		name
405021904	CV2877280	single nucleotide variant	NM_003742.4(ABCB11):c.1483A>C (p.Arg495=)	not provided [RCV003577603]	likely benign	2	168972002	168972002	Human		name
402505337	CV2884417	single nucleotide variant	NM_003742.4(ABCB11):c.1803G>A (p.Leu601=)	not provided [RCV003546306]	likely benign	2	168970051	168970051	Human		name
405123274	CV2885118	single nucleotide variant	NM_003742.4(ABCB11):c.1701A>G (p.Val567=)	not provided [RCV003559299]	likely benign	2	168970153	168970153	Human		name
405227773	CV2894367	deletion	NM_003742.4(ABCB11):c.695del (p.Leu232fs)	Progressive familial intrahepatic cholestasis type 2 [RCV005254828]\|not provided [RCV003554970]	pathogenic\|likely pathogenic	2	168993799	168993799	Human	1	name
405227785	CV2894369	single nucleotide variant	NM_003742.4(ABCB11):c.179G>A (p.Trp60Ter)	not provided [RCV003554972]	pathogenic	2	169013482	169013482	Human		name
402471204	CV2904483	single nucleotide variant	NM_003742.4(ABCB11):c.2619C>T (p.Gly873=)	not provided [RCV003570530]	likely benign	2	168936425	168936425	Human		name
405135871	CV2906921	single nucleotide variant	NM_003742.4(ABCB11):c.1950C>T (p.Tyr650=)	not provided [RCV003560443]	likely benign	2	168969411	168969411	Human		name
405183061	CV2909798	single nucleotide variant	NM_003742.4(ABCB11):c.2934C>A (p.Ala978=)	not provided [RCV003564179]	likely benign	2	168935306	168935306	Human		name
405206163	CV2912578	single nucleotide variant	NM_003742.4(ABCB11):c.1896C>A (p.Gly632=)	not provided [RCV003566349]	likely benign	2	168969465	168969465	Human		name
405202629	CV2915048	single nucleotide variant	NM_003742.4(ABCB11):c.1182T>C (p.Phe394=)	not provided [RCV003566100]	likely benign	2	168979881	168979881	Human		name
405177089	CV2915845	single nucleotide variant	NM_003742.4(ABCB11):c.1851G>A (p.Leu617=)	not provided [RCV003563632]	likely benign	2	168969510	168969510	Human		name
405201938	CV2918789	single nucleotide variant	NM_003742.4(ABCB11):c.2100G>A (p.Lys700=)	not provided [RCV003566029]	likely benign	2	168964284	168964284	Human		name
405210776	CV2920971	single nucleotide variant	NM_003742.4(ABCB11):c.1041T>C (p.Leu347=)	not provided [RCV003567134]	likely benign	2	168986152	168986152	Human		name
405214548	CV2925195	single nucleotide variant	NM_003742.4(ABCB11):c.2274G>A (p.Gly758=)	not provided [RCV003567614]	likely benign	2	168958033	168958033	Human		name
405028673	CV2925860	single nucleotide variant	NM_003742.4(ABCB11):c.2301A>G (p.Thr767=)	not provided [RCV003578194]	likely benign	2	168958006	168958006	Human		name
405040880	CV2929984	single nucleotide variant	NM_003742.4(ABCB11):c.2937T>C (p.Asn979=)	not provided [RCV003579036]	likely benign	2	168935303	168935303	Human		name
402503432	CV2933375	single nucleotide variant	NM_003742.4(ABCB11):c.2142T>C (p.Val714=)	not provided [RCV003574231]	likely benign	2	168964242	168964242	Human		name
405124514	CV2939247	single nucleotide variant	NM_003742.4(ABCB11):c.2208T>A (p.Val736=)	not provided [RCV003671821]	likely benign	2	168958099	168958099	Human		name
402490812	CV2949044	single nucleotide variant	NM_003742.4(ABCB11):c.1617C>T (p.Asn539=)	not provided [RCV003660527]	likely benign	2	168971868	168971868	Human		name
405121793	CV2952550	single nucleotide variant	NM_003742.4(ABCB11):c.1074C>A (p.Thr358=)	not provided [RCV003671549]	likely benign	2	168986119	168986119	Human		name
405118035	CV2955783	single nucleotide variant	NM_003742.4(ABCB11):c.1956T>C (p.Thr652=)	not provided [RCV003671163]	likely benign	2	168969405	168969405	Human		name
405170670	CV2961233	single nucleotide variant	NM_003742.4(ABCB11):c.1815G>A (p.Gln605=)	not provided [RCV003675393]	likely benign	2	168969546	168969546	Human		name
405221408	CV2966164	single nucleotide variant	NM_003742.4(ABCB11):c.2025T>C (p.Asp675=)	not provided [RCV003680743]	likely benign	2	168968477	168968477	Human		name
405222368	CV2976286	single nucleotide variant	NM_003742.4(ABCB11):c.1839T>G (p.Val613=)	not provided [RCV003680887]	likely benign	2	168969522	168969522	Human		name
402507374	CV2978921	single nucleotide variant	NM_003742.4(ABCB11):c.1497G>T (p.Gly499=)	not provided [RCV003689195]	likely benign	2	168971988	168971988	Human		name
405224586	CV2982954	single nucleotide variant	NM_003742.4(ABCB11):c.1473T>A (p.Ile491=)	not provided [RCV003681118]	likely benign	2	168972012	168972012	Human		name
405202575	CV2989221	single nucleotide variant	NM_003742.4(ABCB11):c.2865G>A (p.Lys955=)	not provided [RCV003678331]	likely benign	2	168935375	168935375	Human		name
402512445	CV2991267	single nucleotide variant	NM_003742.4(ABCB11):c.2286A>T (p.Ala762=)	not provided [RCV003689665]	likely benign	2	168958021	168958021	Human		name
404996029	CV2992483	single nucleotide variant	NM_003742.4(ABCB11):c.2847T>A (p.Thr949=)	not provided [RCV003692715]	likely benign	2	168935393	168935393	Human		name
405014033	CV2994333	single nucleotide variant	NM_003742.4(ABCB11):c.1869A>C (p.Ala623=)	not provided [RCV003694231]	likely benign	2	168969492	168969492	Human		name
405238444	CV2996726	single nucleotide variant	NM_003742.4(ABCB11):c.2223T>A (p.Val741=)	not provided [RCV003718669]	likely benign	2	168958084	168958084	Human		name
402484754	CV2998193	single nucleotide variant	NM_003742.4(ABCB11):c.1830C>T (p.Ile610=)	not provided [RCV003686886]	likely benign	2	168969531	168969531	Human		name
405000751	CV3005431	single nucleotide variant	NM_003742.4(ABCB11):c.2154G>A (p.Lys718=)	not provided [RCV003693148]	likely benign	2	168964230	168964230	Human		name
402492565	CV3008336	single nucleotide variant	NM_003742.4(ABCB11):c.1857G>C (p.Thr619=)	not provided [RCV003687678]	likely benign	2	168969504	168969504	Human		name
405055090	CV3022451	single nucleotide variant	NM_003742.4(ABCB11):c.2844C>T (p.Arg948=)	not provided [RCV003697226]	likely benign	2	168935396	168935396	Human		name
405093979	CV3022702	single nucleotide variant	NM_003742.4(ABCB11):c.226C>T (p.Gln76Ter)	not provided [RCV003699937]	pathogenic	2	169013435	169013435	Human		name
405145802	CV3023927	single nucleotide variant	NM_003742.4(ABCB11):c.1035C>T (p.Ser345=)	not provided [RCV003702921]	likely benign	2	168986158	168986158	Human		name
405049270	CV3025426	single nucleotide variant	NM_003742.4(ABCB11):c.1569A>G (p.Ala523=)	not provided [RCV003696889]	likely benign	2	168971916	168971916	Human		name
405060015	CV3029863	single nucleotide variant	NM_003742.4(ABCB11):c.2160C>A (p.Thr720=)	not provided [RCV003697612]	likely benign	2	168964224	168964224	Human		name
405118466	CV3030480	single nucleotide variant	NM_003742.4(ABCB11):c.1653T>A (p.Leu551=)	not provided [RCV003700494]	likely benign	2	168970201	168970201	Human		name
405205407	CV3033706	single nucleotide variant	NM_003742.4(ABCB11):c.1359G>T (p.Leu453=)	not provided [RCV003707939]	likely benign	2	168973790	168973790	Human		name
405252818	CV3044062	single nucleotide variant	NM_003742.4(ABCB11):c.1875C>T (p.Thr625=)	not provided [RCV003722330]	likely benign	2	168969486	168969486	Human		name
405154003	CV3060320	single nucleotide variant	NM_003742.4(ABCB11):c.2298G>T (p.Gly766=)	not provided [RCV003726537]	likely benign	2	168958009	168958009	Human		name
405162158	CV3062676	single nucleotide variant	NM_003742.4(ABCB11):c.2370A>G (p.Glu790=)	not provided [RCV003727175]	likely benign	2	168944935	168944935	Human		name
405230194	CV3070132	single nucleotide variant	NM_003742.4(ABCB11):c.2838C>T (p.Asn946=)	not provided [RCV003734763]	likely benign	2	168935402	168935402	Human		name
405042705	CV3074088	single nucleotide variant	NM_003742.4(ABCB11):c.2409A>G (p.Val803=)	not provided [RCV003740045]	likely benign	2	168944896	168944896	Human		name
405229002	CV3075448	single nucleotide variant	NM_003742.4(ABCB11):c.279C>A (p.Tyr93Ter)	not provided [RCV003734568]	pathogenic	2	169013382	169013382	Human		name
405115851	CV3115799	single nucleotide variant	NM_003742.4(ABCB11):c.2569T>C (p.Leu857=)	not provided [RCV003814289]	likely benign	2	168944646	168944646	Human		name
405214629	CV3128346	single nucleotide variant	NM_003742.4(ABCB11):c.1722C>A (p.Ile574=)	not provided [RCV003823770]	likely benign	2	168970132	168970132	Human		name
405107098	CV3136230	single nucleotide variant	NM_003742.4(ABCB11):c.1140G>A (p.Leu380=)	not provided [RCV003835576]	likely benign	2	168979923	168979923	Human		name
405111479	CV3137305	single nucleotide variant	NM_003742.4(ABCB11):c.1236G>A (p.Lys412=)	not provided [RCV003836268]	likely benign	2	168976649	168976649	Human		name
405049047	CV3150818	single nucleotide variant	NM_003742.4(ABCB11):c.2991T>C (p.Ser997=)	not provided [RCV003849422]	likely benign	2	168935249	168935249	Human		name
405230924	CV3153959	single nucleotide variant	NM_003742.4(ABCB11):c.2451A>T (p.Gly817=)	not provided [RCV003848827]	likely benign	2	168944764	168944764	Human		name
405247123	CV3158635	single nucleotide variant	NM_003742.4(ABCB11):c.1263A>G (p.Glu421=)	not provided [RCV003868977]	likely benign	2	168976622	168976622	Human		name
405164427	CV3160422	single nucleotide variant	NM_003742.4(ABCB11):c.1779T>C (p.Ser593=)	not provided [RCV003857302]	likely benign	2	168970075	168970075	Human		name
405197291	CV3168248	single nucleotide variant	NM_003742.4(ABCB11):c.1003T>C (p.Leu335=)	not provided [RCV003860380]	likely benign	2	168986190	168986190	Human		name
402479031	CV3174382	single nucleotide variant	NM_003742.4(ABCB11):c.1482T>A (p.Leu494=)	ABCB11-related disorder [RCV004741747]\|not provided [RCV003875729]	likely benign	2	168972003	168972003	Human	1	name , alternate_id
405853194	CV3393627	single nucleotide variant	NM_003742.4(ABCB11):c.166T>C (p.Ser56Pro)	not provided [RCV004546357]	uncertain significance	2	169013495	169013495	Human		name
405871327	CV3399361	single nucleotide variant	NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)	Benign recurrent intrahepatic cholestasis type 2 [RCV004574792]\|Progressive familial intrahepatic cholestasis type 2 [RCV004787133]	likely pathogenic\|uncertain significance	2	169014304	169014304	Human	2	name
405870148	CV3399748	deletion	NM_003742.4(ABCB11):c.665del (p.Gln222fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV004573894]	likely pathogenic	2	168993829	168993829	Human	1	name
405872533	CV3400012	deletion	NM_003742.4(ABCB11):c.642del (p.Asp215fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV004575516]	likely pathogenic	2	168993852	168993852	Human	1	name
405872659	CV3400092	single nucleotide variant	NM_003742.4(ABCB11):c.263A>T (p.Asp88Val)	Benign recurrent intrahepatic cholestasis type 2 [RCV004575596]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254914]	likely pathogenic\|uncertain significance	2	169013398	169013398	Human	2	name
596922051	CV3535681	single nucleotide variant	NM_003742.4(ABCB11):c.241C>T (p.Leu81Phe)	Benign recurrent intrahepatic cholestasis type 2 [RCV004785236]	uncertain significance	2	169013420	169013420	Human	1	name
597835521	CV3760973	single nucleotide variant	NM_003742.4(ABCB11):c.1827A>C (p.Thr609=)	not provided [RCV005085524]	likely benign	2	168969534	168969534	Human		name
597841231	CV3772595	single nucleotide variant	NM_003742.4(ABCB11):c.1902A>G (p.Ala634=)	not provided [RCV005115745]	likely benign	2	168969459	168969459	Human		name
598228235	CV3893025	deletion	NM_003742.4(ABCB11):c.596del (p.Asn199fs)	Progressive familial intrahepatic cholestasis type 2 [RCV005255352]	likely pathogenic	2	168995364	168995364	Human	1	name
598228270	CV3893030	single nucleotide variant	NM_003742.4(ABCB11):c.197G>A (p.Ser66Asn)	Progressive familial intrahepatic cholestasis type 2 [RCV005255357]	uncertain significance	2	169013464	169013464	Human	1	name
598228277	CV3893031	single nucleotide variant	NM_003742.4(ABCB11):c.185T>A (p.Met62Lys)	Progressive familial intrahepatic cholestasis type 2 [RCV005255358]	uncertain significance	2	169013476	169013476	Human	1	name
617149814	CV4017345	single nucleotide variant	NM_003742.4(ABCB11):c.203G>A (p.Cys68Tyr)	not provided [RCV005417002]	likely pathogenic	2	169013458	169013458	Human		name
13833733	CV584971	single nucleotide variant	NM_003742.4(ABCB11):c.2700G>A (p.Leu900=)	not provided [RCV000729077]	conflicting interpretations of pathogenicity\|uncertain significance	2	168936344	168936344	Human		name
13834010	CV585250	single nucleotide variant	NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)	Progressive familial intrahepatic cholestasis type 2 [RCV001825452]\|not provided [RCV000729414]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168968465	168968465	Human	1	name
13834124	CV585366	single nucleotide variant	NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)	ABCB11-related disorder [RCV003980370]\|not provided [RCV000729562]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168944725	168944725	Human	1	name , alternate_id
13834275	CV585520	single nucleotide variant	NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)	Benign recurrent intrahepatic cholestasis type 2 [RCV003461005]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005021129]\|Progressive familial intrahepatic cholestasis [RCV004689870]\|Progressive familial intrahepatic cholestasis type 2 [RCV005253097]\|not provided [RCV000729750]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	169013507	169013507	Human	3	name
13834359	CV585605	single nucleotide variant	NM_003742.4(ABCB11):c.2988T>C (p.Asn996=)	not provided [RCV000729852]	conflicting interpretations of pathogenicity\|uncertain significance	2	168935252	168935252	Human		name
13834447	CV585693	deletion	NM_003742.4(ABCB11):c.379del (p.Thr127fs)	Benign recurrent intrahepatic cholestasis type 2 [RCV001336078]\|Progressive familial intrahepatic cholestasis type 2 [RCV000985104]\|not provided [RCV000729966]	pathogenic	2	169013282	169013282	Human	2	name
13834567	CV585816	single nucleotide variant	NM_003742.4(ABCB11):c.2655C>T (p.Asn885=)	not provided [RCV000730118]	conflicting interpretations of pathogenicity\|uncertain significance	2	168936389	168936389	Human		name
13834948	CV586199	single nucleotide variant	NM_003742.4(ABCB11):c.127G>T (p.Val43Phe)	not provided [RCV000730603]	uncertain significance	2	169014326	169014326	Human		name
13835847	CV587110	single nucleotide variant	NM_003742.4(ABCB11):c.1404T>A (p.Ile468=)	not provided [RCV000731759]	conflicting interpretations of pathogenicity\|uncertain significance	2	168973745	168973745	Human		name
13835990	CV587256	single nucleotide variant	NM_003742.4(ABCB11):c.155G>A (p.Arg52Gln)	ABCB11-related disorder [RCV003420308]\|not provided [RCV000731946]	uncertain significance	2	169013506	169013506	Human	1	name , alternate_id
13836582	CV587858	single nucleotide variant	NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)	ABCB11-related disorder [RCV003892648]\|not provided [RCV000732744]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168936416	168936416	Human	1	name , alternate_id
13836622	CV587899	single nucleotide variant	NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)	ABCB11-related disorder [RCV003947946]\|not provided [RCV000732798]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168936428	168936428	Human	1	name , alternate_id
13837186	CV588472	single nucleotide variant	NM_003742.4(ABCB11):c.2799G>T (p.Leu933=)	not provided [RCV000733518]	conflicting interpretations of pathogenicity\|uncertain significance	2	168936245	168936245	Human		name
13837698	CV588988	single nucleotide variant	NM_003742.4(ABCB11):c.1638G>A (p.Gln546=)	Progressive familial intrahepatic cholestasis type 2 [RCV005253105]\|not provided [RCV000734187]	uncertain significance	2	168971847	168971847	Human	1	name
13838138	CV589434	single nucleotide variant	NM_003742.4(ABCB11):c.2106G>A (p.Gln702=)	not provided [RCV000734750]	uncertain significance	2	168964278	168964278	Human		name
13838409	CV589712	single nucleotide variant	NM_003742.4(ABCB11):c.2613T>C (p.Ala871=)	not provided [RCV000735093]	uncertain significance	2	168936431	168936431	Human		name
15179484	CV707836	single nucleotide variant	NM_003742.4(ABCB11):c.1470C>T (p.Asn490=)	ABCB11-related disorder [RCV003906072]\|Progressive familial intrahepatic cholestasis type 2 [RCV001276310]\|not provided [RCV000973921]	likely benign\|uncertain significance	2	168972015	168972015	Human	1	name , alternate_id
15131125	CV732909	single nucleotide variant	NM_003742.4(ABCB11):c.1533C>T (p.Thr511=)	ABCB11-related disorder [RCV003910695]\|Progressive familial intrahepatic cholestasis type 2 [RCV001276309]\|not provided [RCV000897719]	likely benign\|uncertain significance	2	168971952	168971952	Human	1	name , alternate_id
15125189	CV746913	single nucleotide variant	NM_003742.4(ABCB11):c.2760G>A (p.Arg920=)	not provided [RCV000919111]	likely benign	2	168936284	168936284	Human		name
15196234	CV762393	single nucleotide variant	NM_003742.4(ABCB11):c.2769A>G (p.Thr923=)	Progressive familial intrahepatic cholestasis type 2 [RCV001274330]\|not provided [RCV000934164]	likely benign\|uncertain significance	2	168936275	168936275	Human	1	name
15187168	CV762394	single nucleotide variant	NM_003742.4(ABCB11):c.2721C>T (p.Phe907=)	not provided [RCV000931577]	likely benign	2	168936323	168936323	Human		name
15138422	CV762395	single nucleotide variant	NM_003742.4(ABCB11):c.2704C>T (p.Leu902=)	ABCB11-related disorder [RCV004743216]\|not provided [RCV000943391]	benign\|likely benign	2	168936340	168936340	Human	1	name , alternate_id
15188109	CV762396	single nucleotide variant	NM_003742.4(ABCB11):c.2277T>C (p.Ser759=)	not provided [RCV000931854]	likely benign	2	168958030	168958030	Human		name
15190333	CV762397	single nucleotide variant	NM_003742.4(ABCB11):c.2124C>T (p.His708=)	not provided [RCV000932488]	likely benign	2	168964260	168964260	Human		name
15136082	CV762398	single nucleotide variant	NM_003742.4(ABCB11):c.2085C>T (p.Ile695=)	not provided [RCV000943022]	likely benign	2	168964299	168964299	Human		name
15187921	CV762399	single nucleotide variant	NM_003742.4(ABCB11):c.1689G>A (p.Gln563=)	not provided [RCV000931801]	likely benign	2	168970165	168970165	Human		name
15183458	CV762400	single nucleotide variant	NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)	ABCB11-related disorder [RCV004743209]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130295]\|not provided [RCV000930594]	likely benign\|uncertain significance	2	168971955	168971955	Human	1	name , alternate_id
15121429	CV780938	single nucleotide variant	NM_003742.4(ABCB11):c.2901G>A (p.Leu967=)	not provided [RCV000979467]	likely benign	2	168935339	168935339	Human		name
15135498	CV780939	single nucleotide variant	NM_003742.4(ABCB11):c.2307A>G (p.Thr769=)	not provided [RCV000981939]	likely benign	2	168958000	168958000	Human		name
15117139	CV780941	single nucleotide variant	NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)	Progressive familial intrahepatic cholestasis type 2 [RCV001274997]\|not provided [RCV000978711]	likely benign	2	168969429	168969429	Human	1	name
15140039	CV780942	single nucleotide variant	NM_003742.4(ABCB11):c.1893T>C (p.His631=)	not provided [RCV000982748]	likely benign	2	168969468	168969468	Human		name
15132733	CV780943	single nucleotide variant	NM_003742.4(ABCB11):c.1692A>G (p.Lys564=)	not provided [RCV000981434]	likely benign	2	168970162	168970162	Human		name
15137234	CV780944	single nucleotide variant	NM_003742.4(ABCB11):c.1539A>G (p.Ala513=)	not provided [RCV000982254]	likely benign	2	168971946	168971946	Human		name
15137732	CV780945	single nucleotide variant	NM_003742.4(ABCB11):c.1440C>T (p.Thr480=)	not provided [RCV000982353]	likely benign	2	168972045	168972045	Human		name
15119056	CV780946	single nucleotide variant	NM_003742.4(ABCB11):c.1092C>T (p.Leu364=)	ABCB11-related disorder [RCV003962944]\|not provided [RCV000979055]	likely benign	2	168979971	168979971	Human	1	name , alternate_id
21070956	CV790126	single nucleotide variant	NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)	Progressive familial intrahepatic cholestasis type 2 [RCV000986928]	likely pathogenic\|conflicting interpretations of pathogenicity	2	169013404	169013404	Human	1	name
28878884	CV881419	single nucleotide variant	NM_003742.4(ABCB11):c.1927T>C (p.Leu643=)	Progressive familial intrahepatic cholestasis type 2 [RCV001135337]	uncertain significance	2	168969434	168969434	Human	1	name
28878890	CV881420	single nucleotide variant	NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)	ABCB11-related disorder [RCV004743297]\|Progressive familial intrahepatic cholestasis type 2 [RCV001135338]\|not provided [RCV001426720]	likely benign\|uncertain significance	2	168970207	168970207	Human	1	name , alternate_id
28869051	CV881426	single nucleotide variant	NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu)	Progressive familial intrahepatic cholestasis type 2 [RCV001130406]	uncertain significance	2	169013453	169013453	Human	1	name
28869055	CV881427	single nucleotide variant	NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp)	ABCB11-related disorder [RCV003953506]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130409]	uncertain significance	2	169014334	169014334	Human	1	name , alternate_id
40906091	CV977638	single nucleotide variant	NM_003742.4(ABCB11):c.1095T>C (p.Ser365=)	Progressive familial intrahepatic cholestasis type 2 [RCV001279416]\|not provided [RCV003558790]	likely benign\|uncertain significance	2	168979968	168979968	Human	1	name
127268851	CV1059089	duplication	NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)	ABCB11-related disorder [RCV003953697]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002493923]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003462983]\|not provided [RCV001382266]	pathogenic\|likely pathogenic	2	168957987	168957988	Human	2	alternate_id
127276910	CV1068304	single nucleotide variant	NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr)	ABCB11-related disorder [RCV003405646]\|not provided [RCV001407432]	likely benign\|uncertain significance	2	168969374	168969374	Human	1	alternate_id
127247113	CV1068306	single nucleotide variant	NM_003742.4(ABCB11):c.1905G>A (p.Val635=)	ABCB11-related disorder [RCV003900434]\|not provided [RCV001416853]	likely benign	2	168969456	168969456	Human	1	alternate_id
127280150	CV1068313	single nucleotide variant	NM_003742.4(ABCB11):c.1029C>T (p.Tyr343=)	ABCB11-related disorder [RCV003930881]\|not provided [RCV001409622]	likely benign	2	168986164	168986164	Human	1	alternate_id
127239520	CV1090024	single nucleotide variant	NM_003742.4(ABCB11):c.2479C>T (p.Leu827=)	ABCB11-related disorder [RCV003953776]\|not provided [RCV001423138]	likely benign	2	168944736	168944736	Human	1	alternate_id
127275550	CV1090028	single nucleotide variant	NM_003742.4(ABCB11):c.1887T>C (p.Phe629=)	ABCB11-related disorder [RCV003955965]\|not provided [RCV001443369]	likely benign	2	168969474	168969474	Human	1	alternate_id
127274382	CV1090043	single nucleotide variant	NM_003742.4(ABCB11):c.283G>A (p.Val95Ile)	ABCB11-related disorder [RCV003394047]\|not provided [RCV001431951]	likely benign\|uncertain significance	2	169013378	169013378	Human	1	alternate_id
127316055	CV1111504	single nucleotide variant	NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)	ABCB11-related disorder [RCV003946210]\|Progressive familial intrahepatic cholestasis type 2 [RCV001732185]\|not provided [RCV001465421]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168923626	168923626	Human	1	alternate_id
150547213	CV1291937	single nucleotide variant	NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)	ABCB11-related disorder [RCV003910991]\|Progressive familial intrahepatic cholestasis type 2 [RCV001733603]	uncertain significance	2	168924735	168924735	Human	1	alternate_id
150552123	CV1302197	indel	NM_003742.4(ABCB11):c.896_897delinsTT (p.Arg299Ile)	ABCB11-related disorder [RCV004743572]\|not provided [RCV001767461]	uncertain significance	2	168990812	168990813	Human		alternate_id
151855057	CV1387277	single nucleotide variant	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	ABCB11-related disorder [RCV003941221]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003464279]\|Progressive familial intrahepatic cholestasis [RCV003401948]\|Progressive familial intrahepatic cholestasis type 2 [RCV003152782]\|not provided [RCV001958485]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	168993817	168993817	Human	4	alternate_id
151743734	CV1387286	single nucleotide variant	NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)	ABCB11-related disorder [RCV003911123]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003464280]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005016921]\|Progressive familial intrahepatic cholestasis [RCV004587264]\|Progressive familial intrahepatic ... (more) cholestasis type 2 [RCV005253951]\|not provided [RCV001985500]	pathogenic\|likely pathogenic	2	168995461	168995461	Human	4	alternate_id
151784441	CV1458381	deletion	NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)	ABCB11-related disorder [RCV004728992]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003471173]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005025526]\|Progressive familial intrahepatic cholestasis [RCV003155448]\|not provided [RCV001972388]	pathogenic\|likely pathogenic	2	168986233	168986234	Human	4	alternate_id
152068514	CV1613613	single nucleotide variant	NM_003742.4(ABCB11):c.3771G>T (p.Val1257=)	ABCB11-related disorder [RCV004744292]\|not provided [RCV002074776]	likely benign	2	168923817	168923817	Human	1	alternate_id
152147891	CV1653807	single nucleotide variant	NM_003742.4(ABCB11):c.3669G>A (p.Glu1223=)	ABCB11-related disorder [RCV003984234]\|not provided [RCV002139077]	likely benign	2	168924753	168924753	Human	1	alternate_id
155267422	CV1699616	single nucleotide variant	NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)	ABCB11-related disorder [RCV003971229]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003464432]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254050]\|not specified [RCV002283409]	likely pathogenic\|uncertain significance	2	168964298	168964298	Human	2	alternate_id
155943958	CV1878939	single nucleotide variant	NM_003742.4(ABCB11):c.1324A>T (p.Asn442Tyr)	ABCB11-related disorder [RCV004744546]\|not provided [RCV003073726]	likely benign\|uncertain significance	2	168973825	168973825	Human	1	alternate_id
10047890	CV191546	single nucleotide variant	NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)	ABCB11-related disorder [RCV003907565]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130293]\|not provided [RCV000902658]\|not specified [RCV000174741]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	168971880	168971880	Human	1	alternate_id
10048030	CV192005	single nucleotide variant	NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)	ABCB11-related disorder [RCV004725026]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002478567]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003553]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133841]\|not provided [RCV000425907]\|not s ... (more) pecified [RCV000175307]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168964291	168964291	Human	3	alternate_id
10048317	CV192911	single nucleotide variant	NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)	ABCB11-related disorder [RCV003895191]\|Progressive familial intrahepatic cholestasis type 2 [RCV000388868]\|not provided [RCV000903891]\|not specified [RCV000176396]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168935297	168935297	Human	1	alternate_id
156152130	CV1934429	single nucleotide variant	NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)	ABCB11-related disorder [RCV003900872]\|not provided [RCV002663931]	likely benign\|uncertain significance	2	168972044	168972044	Human	1	alternate_id
10052135	CV194380	single nucleotide variant	NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)	ABCB11-related disorder [RCV003937611]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130408]\|not provided [RCV000178197]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169014326	169014326	Human	1	alternate_id
156158813	CV2033709	single nucleotide variant	NM_003742.4(ABCB11):c.1907A>T (p.Glu636Val)	ABCB11-related disorder [RCV004744436]\|not provided [RCV002741470]\|not specified [RCV004765560]	pathogenic\|likely pathogenic\|uncertain significance	2	168969454	168969454	Human	1	alternate_id
8597183	CV21628	single nucleotide variant	NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)	ABCB11-related disorder [RCV004742222]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003472992]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005025019]\|Progressive familial intrahepatic cholestasis type 2 [RCV000006967]\|See cases [RCV004797757]\|no ... (more) t provided [RCV001851713]	pathogenic	2	168970131	168970131	Human	2	alternate_id
8597184	CV21629	single nucleotide variant	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	ABCB11-related disorder [RCV003904813]\|Benign recurrent intrahepatic cholestasis type 2 [RCV000258070]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005357086]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003930]\|Progressive familial intrahepatic cho ... (more) lestasis [RCV000403023]\|Progressive familial intrahepatic cholestasis type 2 [RCV000006968]\|not provided [RCV000725832]	pathogenic\|not provided	2	168990819	168990819	Human	8	alternate_id
11350579	CV237083	single nucleotide variant	NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)	ABCB11-related disorder [RCV003919903]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130866]\|not provided [RCV000224014]\|not specified [RCV000267628]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	168944621	168944621	Human	1	alternate_id
11639300	CV266117	single nucleotide variant	NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)	ABCB11-related disorder [RCV003939953]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133840]\|not provided [RCV001413506]\|not specified [RCV000318703]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	168964283	168964283	Human	1	alternate_id
11635905	CV267048	single nucleotide variant	NM_003742.4(ABCB11):c.239T>C (p.Leu80Pro)	ABCB11-related disorder [RCV003982982]\|not provided [RCV000259630]	uncertain significance	2	169013422	169013422	Human	1	alternate_id
11643793	CV268960	single nucleotide variant	NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)	ABCB11-related disorder [RCV003920081]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133700]\|not provided [RCV000400668]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168927262	168927262	Human	1	alternate_id
11577670	CV270804	single nucleotide variant	NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr)	ABCB11-related disorder [RCV004742360]\|Inborn genetic diseases [RCV002519238]\|Progressive familial intrahepatic cholestasis type 2 [RCV000264980]\|not provided [RCV000332967]	uncertain significance	2	168930726	168930726	Human	2	alternate_id
11639340	CV270936	single nucleotide variant	NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)	ABCB11-related disorder [RCV004742361]\|Benign recurrent intrahepatic cholestasis type 2 [RCV000765532]\|Benign recurrent intrahepatic cholestasis type 2 [RCV001196787]\|not provided [RCV000319364]	conflicting interpretations of pathogenicity\|uncertain significance	2	168964259	168964259	Human	2	alternate_id
11643168	CV271475	single nucleotide variant	NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)	ABCB11-related disorder [RCV004742363]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003469242]\|Progressive familial intrahepatic cholestasis type 2 [RCV005252861]\|not provided [RCV000388879]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	168993827	168993827	Human	2	alternate_id
11639147	CV271599	single nucleotide variant	NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)	ABCB11-related disorder [RCV003920123]\|not provided [RCV000316075]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168927226	168927226	Human	1	alternate_id
11579590	CV272792	single nucleotide variant	NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)	ABCB11-related disorder [RCV004742365]\|Benign recurrent intrahepatic cholestasis type 2 [RCV001198579]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002494878]\|Cholestasis, progressive familial intrahepatic, 4 [RCV004783771]\|Progressive familial intrahepa ... (more) tic cholestasis type 2 [RCV000779284]\|not provided [RCV000352712]	pathogenic	2	168972040	168972040	Human	3	alternate_id
11580446	CV272963	single nucleotide variant	NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	ABCB11-related disorder [RCV003930155]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003463773]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005025436]\|Progressive familial intrahepatic cholestasis type 2 [RCV000984920]\|not provided [RCV000333806]	pathogenic\|likely pathogenic	2	168927317	168927317	Human	2	alternate_id
11639224	CV273360	single nucleotide variant	NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)	ABCB11-related disorder [RCV003910022]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130292]\|not provided [RCV000904492]\|not specified [RCV000317163]	benign\|likely benign	2	168971849	168971849	Human	1	alternate_id
11582071	CV274318	single nucleotide variant	NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	ABCB11-related disorder [RCV003401274]\|Benign recurrent intrahepatic cholestasis type 2 [RCV000763465]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003469246]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003929]\|Progressive familial intrahepatic cho ... (more) lestasis [RCV001805001]\|Progressive familial intrahepatic cholestasis type 2 [RCV000761414]\|not provided [RCV000396656]	pathogenic\|likely pathogenic\|uncertain significance	2	168972025	168972025	Human	5	alternate_id
11581931	CV274370	single nucleotide variant	NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	ABCB11-related disorder [RCV003897653]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003475921]\|Progressive familial intrahepatic cholestasis [RCV003330629]\|Progressive familial intrahepatic cholestasis type 2 [RCV001833399]\|not provided [RCV000390625]	pathogenic\|likely pathogenic	2	168958011	168958011	Human	4	alternate_id
11579425	CV275088	single nucleotide variant	NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)	ABCB11-related disorder [RCV003401276]\|Benign recurrent intrahepatic cholestasis type 2 [RCV001559194]\|Progressive familial intrahepatic cholestasis type 2 [RCV000303326]\|not provided [RCV000324012]	conflicting interpretations of pathogenicity\|uncertain significance	2	168964297	168964297	Human	2	alternate_id
11638125	CV275527	single nucleotide variant	NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)	ABCB11-related disorder [RCV003910048]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130164]\|not provided [RCV000297837]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168936233	168936233	Human	1	alternate_id
401913772	CV2798959	single nucleotide variant	NM_003742.4(ABCB11):c.2750C>G (p.Thr917Arg)	ABCB11-related disorder [RCV003400174]	uncertain significance	2	168936294	168936294	Human		trait , alternate_id
401931956	CV2799206	single nucleotide variant	NM_003742.4(ABCB11):c.1495G>T (p.Gly499Trp)	ABCB11-related disorder [RCV003391662]	uncertain significance	2	168971990	168971990	Human		trait , alternate_id
401902527	CV2802111	single nucleotide variant	NM_003742.4(ABCB11):c.1297C>T (p.Pro433Ser)	ABCB11-related disorder [RCV003418918]	uncertain significance	2	168976588	168976588	Human		trait , alternate_id
401937890	CV2803718	single nucleotide variant	NM_003742.4(ABCB11):c.1000T>G (p.Phe334Val)	ABCB11-related disorder [RCV003416986]	uncertain significance	2	168986193	168986193	Human		trait , alternate_id
401907223	CV2804894	single nucleotide variant	NM_003742.4(ABCB11):c.3133A>G (p.Lys1045Glu)	ABCB11-related disorder [RCV003422493]	uncertain significance	2	168932457	168932457	Human		trait , alternate_id
11578364	CV283387	single nucleotide variant	NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)	ABCB11-related disorder [RCV003910281]\|Progressive familial intrahepatic cholestasis type 2 [RCV000279768]\|not provided [RCV000923510]\|not specified [RCV000728774]	likely benign\|uncertain significance	2	168979939	168979939	Human	1	alternate_id
401948106	CV2835541	single nucleotide variant	NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)	ABCB11-related disorder [RCV004741612]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003466600]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254803]	likely pathogenic\|uncertain significance	2	168964307	168964307	Human	2	alternate_id
404977179	CV2848843	single nucleotide variant	NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)	ABCB11-related disorder [RCV004723335]\|Progressive familial intrahepatic cholestasis type 2 [RCV003485964]	likely pathogenic	2	168986204	168986204	Human	1	alternate_id
11581833	CV284910	single nucleotide variant	NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)	ABCB11-related disorder [RCV003972400]\|Progressive familial intrahepatic cholestasis [RCV000386223]\|not provided [RCV001475597]	likely benign\|uncertain significance	2	168935406	168935406	Human	3	alternate_id
11579889	CV284916	single nucleotide variant	NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)	ABCB11-related disorder [RCV003897760]\|Progressive familial intrahepatic cholestasis type 2 [RCV000315603]\|not provided [RCV000978849]	likely benign\|uncertain significance	2	168979950	168979950	Human	1	alternate_id
11587508	CV285414	single nucleotide variant	NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)	ABCB11-related disorder [RCV003940331]\|Progressive familial intrahepatic cholestasis type 2 [RCV000295539]\|not provided [RCV000596459]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168935313	168935313	Human	1	alternate_id
402466198	CV2914669	single nucleotide variant	NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)	ABCB11-related disorder [RCV004723387]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254843]\|not provided [RCV003569398]	likely pathogenic\|uncertain significance	2	168973740	168973740	Human	1	alternate_id
405263377	CV3189717	single nucleotide variant	NM_003742.4(ABCB11):c.3274G>A (p.Asp1092Asn)	ABCB11-related disorder [RCV003896766]	uncertain significance	2	168930802	168930802	Human		trait , alternate_id
405288623	CV3193730	single nucleotide variant	NM_003742.4(ABCB11):c.3379G>T (p.Glu1127Ter)	ABCB11-related disorder [RCV003982736]	pathogenic	2	168930697	168930697	Human		trait , alternate_id
405288654	CV3193761	single nucleotide variant	NM_003742.4(ABCB11):c.3688G>C (p.Ala1230Pro)	ABCB11-related disorder [RCV003982767]	uncertain significance	2	168924734	168924734	Human		trait , alternate_id
405288838	CV3193831	single nucleotide variant	NM_003742.4(ABCB11):c.1739T>C (p.Leu580Pro)	ABCB11-related disorder [RCV003983333]	uncertain significance	2	168970115	168970115	Human		trait , alternate_id
405277828	CV3196092	single nucleotide variant	NM_003742.4(ABCB11):c.2672T>A (p.Ile891Asn)	ABCB11-related disorder [RCV003904610]	uncertain significance	2	168936372	168936372	Human		trait , alternate_id
405289610	CV3205155	single nucleotide variant	NM_003742.4(ABCB11):c.3365G>A (p.Ser1122Asn)	ABCB11-related disorder [RCV003961755]	uncertain significance	2	168930711	168930711	Human		trait , alternate_id
405259019	CV3215272	single nucleotide variant	NM_003742.4(ABCB11):c.3594T>C (p.His1198=)	ABCB11-related disorder [RCV003942308]	likely benign	2	168927180	168927180	Human		trait , alternate_id
405289426	CV3218212	single nucleotide variant	NM_003742.4(ABCB11):c.1855A>G (p.Thr619Ala)	ABCB11-related disorder [RCV003983614]	uncertain significance	2	168969506	168969506	Human		trait , alternate_id
405293154	CV3221303	single nucleotide variant	NM_003742.4(ABCB11):c.717G>A (p.Trp239Ter)	ABCB11-related disorder [RCV003966822]	likely pathogenic	2	168993777	168993777	Human		trait , alternate_id
408371202	CV3504966	single nucleotide variant	NM_003742.4(ABCB11):c.943G>A (p.Gly315Arg)	ABCB11-related disorder [RCV004724563]	uncertain significance	2	168986250	168986250	Human		trait , alternate_id
408378208	CV3505130	deletion	NM_003742.2:c.1296_1308del13	ABCB11-related disorder [RCV004727889]	likely pathogenic				Human		trait , alternate_id
408376248	CV3505715	single nucleotide variant	NM_003742.4(ABCB11):c.2714T>A (p.Leu905Ter)	ABCB11-related disorder [RCV004726662]	likely pathogenic	2	168936330	168936330	Human		trait , alternate_id
408379366	CV3506824	single nucleotide variant	NM_003742.4(ABCB11):c.668G>T (p.Arg223Leu)	ABCB11-related disorder [RCV004728347]	uncertain significance	2	168993826	168993826	Human		trait , alternate_id
408379398	CV3506935	single nucleotide variant	NM_003742.4(ABCB11):c.2477T>C (p.Leu826Pro)	ABCB11-related disorder [RCV004728430]	uncertain significance	2	168944738	168944738	Human		trait , alternate_id
408371797	CV3507583	single nucleotide variant	NM_003742.4(ABCB11):c.2588C>A (p.Thr863Lys)	ABCB11-related disorder [RCV004741876]	uncertain significance	2	168944627	168944627	Human		trait , alternate_id
408371865	CV3508222	single nucleotide variant	NM_003742.4(ABCB11):c.425C>A (p.Ala142Asp)	ABCB11-related disorder [RCV004741998]	uncertain significance	2	168996687	168996687	Human		trait , alternate_id
408372105	CV3508334	single nucleotide variant	NM_003742.4(ABCB11):c.1364G>A (p.Gly455Glu)	ABCB11-related disorder [RCV004742709]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254941]\|not specified [RCV005241027]	uncertain significance	2	168973785	168973785	Human	1	alternate_id
408372357	CV3509771	single nucleotide variant	NM_003742.4(ABCB11):c.2162A>G (p.Tyr721Cys)	ABCB11-related disorder [RCV004742949]	uncertain significance	2	168964222	168964222	Human		trait , alternate_id
408372503	CV3510989	single nucleotide variant	NM_003742.4(ABCB11):c.874G>A (p.Ala292Thr)	ABCB11-related disorder [RCV004743142]	uncertain significance	2	168990835	168990835	Human		trait , alternate_id
408372644	CV3511766	single nucleotide variant	NM_003742.4(ABCB11):c.371C>A (p.Thr124Lys)	ABCB11-related disorder [RCV004743777]	uncertain significance	2	169013290	169013290	Human		trait , alternate_id
408371924	CV3516961	single nucleotide variant	NM_003742.4(ABCB11):c.2609G>T (p.Gly870Val)	ABCB11-related disorder [RCV004742017]\|Progressive familial intrahepatic cholestasis type 2 [RCV005254943]	uncertain significance	2	168944606	168944606	Human	1	alternate_id
408371917	CV3517177	single nucleotide variant	NM_003742.4(ABCB11):c.3329C>T (p.Ala1110Val)	ABCB11-related disorder [RCV004742053]	uncertain significance	2	168930747	168930747	Human		trait , alternate_id
12834194	CV365959	single nucleotide variant	NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)	ABCB11-related disorder [RCV003392240]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133958]\|not provided [RCV000730938]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168990858	168990858	Human	1	alternate_id
12836996	CV366177	single nucleotide variant	NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)	ABCB11-related disorder [RCV003942361]\|Progressive familial intrahepatic cholestasis type 2 [RCV001130162]\|not provided [RCV000730642]\|not specified [RCV000424387]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168935333	168935333	Human	1	alternate_id
12892798	CV404753	single nucleotide variant	NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)	ABCB11-related disorder [RCV003401507]\|Benign recurrent intrahepatic cholestasis type 2 [RCV000477943]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003476146]\|Progressive familial intrahepatic cholestasis type 2 [RCV001835812]\|not provided [RCV000728860]	pathogenic	2	168944925	168944925	Human	2	alternate_id
13523885	CV489030	single nucleotide variant	NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)	ABCB11-related disorder [RCV003952946]\|Progressive familial intrahepatic cholestasis type 2 [RCV001135336]\|not provided [RCV000593560]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168968466	168968466	Human	1	alternate_id
13515164	CV489039	single nucleotide variant	NM_003742.4(ABCB11):c.3517A>G (p.Asn1173Asp)	ABCB11-related disorder [RCV003403386]\|not provided [RCV000593939]	uncertain significance	2	168927257	168927257	Human	1	alternate_id
13522779	CV489573	single nucleotide variant	NM_003742.4(ABCB11):c.2194G>C (p.Val732Leu)	ABCB11-related disorder [RCV004742518]\|not provided [RCV000592173]	uncertain significance	2	168958113	168958113	Human	1	alternate_id
13518482	CV490103	single nucleotide variant	NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	ABCB11-related disorder [RCV004742519]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003465339]\|Progressive familial intrahepatic cholestasis type 2 [RCV002283494]\|not provided [RCV000597477]\|not specified [RCV005407779]	pathogenic\|uncertain significance	2	168936415	168936415	Human	2	alternate_id
13522504	CV490250	single nucleotide variant	NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)	ABCB11-related disorder [RCV003900319]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002476297]\|not provided [RCV000591821]\|not specified [RCV003117361]	conflicting interpretations of pathogenicity\|uncertain significance	2	168936261	168936261	Human	2	alternate_id
13518401	CV490270	single nucleotide variant	NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)	ABCB11-related disorder [RCV004742520]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003459468]\|not provided [RCV000597368]	pathogenic\|likely pathogenic\|uncertain significance	2	168971863	168971863	Human	2	alternate_id
13522327	CV491420	single nucleotide variant	NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)	ABCB11-related disorder [RCV003962695]\|not provided [RCV000591599]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168936287	168936287	Human	1	alternate_id
13523114	CV491423	deletion	NM_003742.4(ABCB11):c.85_87del (p.Asp29del)	ABCB11-related disorder [RCV004742523]\|not provided [RCV000592594]	uncertain significance	2	169016789	169016791	Human	1	alternate_id
13522788	CV491881	single nucleotide variant	NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)	ABCB11-related disorder [RCV003962704]\|Progressive familial intrahepatic cholestasis type 2 [RCV001131006]\|not provided [RCV000592185]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168976631	168976631	Human	1	alternate_id
13524042	CV491891	single nucleotide variant	NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)	ABCB11-related disorder [RCV004742525]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003459472]\|Progressive familial intrahepatic cholestasis type 2 [RCV005411497]\|not provided [RCV000593762]	pathogenic	2	168936262	168936262	Human	2	alternate_id
13522246	CV494162	single nucleotide variant	NM_003742.4(ABCB11):c.713G>C (p.Gly238Ala)	ABCB11-related disorder [RCV003983141]\|not provided [RCV000591493]	uncertain significance	2	168993781	168993781	Human	1	alternate_id
13518436	CV494167	single nucleotide variant	NM_003742.4(ABCB11):c.383G>A (p.Arg128His)	ABCB11-related disorder [RCV003980121]\|not provided [RCV000597418]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169013278	169013278	Human	1	alternate_id
13538486	CV499007	single nucleotide variant	NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=)	ABCB11-related disorder [RCV003892361]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002498946]\|not provided [RCV000971175]\|not specified [RCV000611899]	likely benign	2	168932458	168932458	Human	2	alternate_id
13540404	CV499173	single nucleotide variant	NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)	ABCB11-related disorder [RCV003962824]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133956]\|not provided [RCV001484771]\|not specified [RCV000614653]	likely benign\|uncertain significance	2	168986131	168986131	Human	1	alternate_id
13833016	CV584243	single nucleotide variant	NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)	ABCB11-related disorder [RCV003908019]\|not provided [RCV000728144]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168935332	168935332	Human	1	alternate_id
13833992	CV585232	single nucleotide variant	NM_003742.4(ABCB11):c.404A>C (p.Glu135Ala)	ABCB11-related disorder [RCV004742611]\|not provided [RCV000729394]	uncertain significance	2	168996708	168996708	Human	1	alternate_id
13834153	CV585395	single nucleotide variant	NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)	ABCB11-related disorder [RCV003420294]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003465661]\|Progressive familial intrahepatic cholestasis type 2 [RCV005253096]\|not provided [RCV000729594]	pathogenic\|uncertain significance	2	168993796	168993796	Human	2	alternate_id
13834348	CV585594	single nucleotide variant	NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	ABCB11-related disorder [RCV004742613]\|Benign recurrent intrahepatic cholestasis type 2 [RCV002499353]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003472263]\|Progressive familial intrahepatic cholestasis [RCV001805834]\|not provided [RCV000729841]	pathogenic\|likely pathogenic	2	168970091	168970091	Human	4	alternate_id
13834742	CV585991	single nucleotide variant	NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)	ABCB11-related disorder [RCV003947925]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133957]\|not provided [RCV000730334]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168990813	168990813	Human	1	alternate_id
13835190	CV586447	single nucleotide variant	NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	ABCB11-related disorder [RCV003955458]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003461007]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005021133]\|Progressive familial intrahepatic cholestasis [RCV002265870]\|Progressive familial intrahepatic ... (more) cholestasis type 2 [RCV001251098]\|not provided [RCV000730913]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	168964289	168964289	Human	4	alternate_id
13835362	CV586619	single nucleotide variant	NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)	ABCB11-related disorder [RCV004742617]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003552]\|Progressive familial intrahepatic cholestasis type 2 [RCV005253098]\|not provided [RCV000731136]\|not specified [RCV001779070]	likely pathogenic\|uncertain significance	2	168958116	168958116	Human	2	alternate_id
13836388	CV587661	single nucleotide variant	NM_003742.4(ABCB11):c.3634G>A (p.Val1212Ile)	ABCB11-related disorder [RCV004742621]\|not provided [RCV000732494]	uncertain significance	2	168924788	168924788	Human	1	alternate_id
13837590	CV588880	single nucleotide variant	NM_003742.4(ABCB11):c.1846C>T (p.Arg616Cys)	ABCB11-related disorder [RCV003892666]\|not provided [RCV000734054]	uncertain significance	2	168969515	168969515	Human	1	alternate_id
13837615	CV588905	single nucleotide variant	NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)	ABCB11-related disorder [RCV003983192]\|not provided [RCV000734087]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	168930830	168930830	Human	1	alternate_id
14708043	CV628977	single nucleotide variant	NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)	ABCB11-related disorder [RCV004742637]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003461069]\|Progressive familial intrahepatic cholestasis [RCV005056557]\|Progressive familial intrahepatic cholestasis type 2 [RCV001825543]\|not provided [RCV000792487]	pathogenic	2	168930694	168930694	Human	4	alternate_id
15122359	CV732906	single nucleotide variant	NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=)	ABCB11-related disorder [RCV003895467]\|Progressive familial intrahepatic cholestasis type 2 [RCV001825804]\|not provided [RCV000896227]	likely benign	2	168923742	168923742	Human	1	alternate_id
15147418	CV732908	single nucleotide variant	NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln)	ABCB11-related disorder [RCV003910741]\|Progressive familial intrahepatic cholestasis type 2 [RCV001274329]\|not provided [RCV000900514]	benign\|likely benign\|uncertain significance	2	168932420	168932420	Human	1	alternate_id
15126509	CV762387	single nucleotide variant	NM_003742.4(ABCB11):c.3849G>A (p.Ala1283=)	ABCB11-related disorder [RCV003903134]\|not provided [RCV000941394]	likely benign	2	168923739	168923739	Human	1	alternate_id
28875269	CV881417	single nucleotide variant	NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr)	ABCB11-related disorder [RCV003405336]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133837]	uncertain significance	2	168958079	168958079	Human	1	alternate_id
28875273	CV881418	single nucleotide variant	NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)	ABCB11-related disorder [RCV003413941]\|Progressive familial intrahepatic cholestasis type 2 [RCV001133838]\|not provided [RCV002070566]	likely benign\|uncertain significance	2	168958105	168958105	Human	1	alternate_id
38492033	CV922404	single nucleotide variant	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	ABCB11-related disorder [RCV003405409]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003469388]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005021534]\|Progressive familial intrahepatic cholestasis [RCV002298908]\|Progressive familial intrahepatic ... (more) cholestasis type 2 [RCV001828781]\|not provided [RCV001223263]	pathogenic\|likely pathogenic	2	168971992	168971992	Human	4	alternate_id
38462858	CV942397	single nucleotide variant	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	ABCB11-related disorder [RCV003953592]\|Benign recurrent intrahepatic cholestasis type 2 [RCV003469404]\|Benign recurrent intrahepatic cholestasis type 2 [RCV005029798]\|Progressive familial intrahepatic cholestasis [RCV004587083]\|Progressive familial intrahepatic ... (more) cholestasis type 2 [RCV001836183]\|not provided [RCV001229767]	pathogenic\|likely pathogenic	2	168973740	168973740	Human	4	alternate_id
150474275	CV1217773	deletion	NM_003742.4(ABCB11):c.1435-293_1435-289del	not provided [RCV001615784]	benign	2	168972339	168972343	Human		name
150484435	CV1222493	deletion	NM_003742.4(ABCB11):c.1197+190_1197+193del	not provided [RCV001617496]	benign	2	168979673	168979676	Human		name
150517199	CV1226647	duplication	NM_003742.4(ABCB11):c.2075+289_2075+292dup	not provided [RCV001639741]	benign	2	168968130	168968131	Human		name
150431466	CV1243705	deletion	NM_003742.4(ABCB11):c.1197+183_1197+193del	not provided [RCV001663325]	benign	2	168979673	168979683	Human		name
150441280	CV1265531	duplication	NM_003742.4(ABCB11):c.2075+289_2075+291dup	not provided [RCV001679235]	benign	2	168968130	168968131	Human		name
150464843	CV1268508	deletion	NM_003742.4(ABCB11):c.2011+218_2011+219del	not provided [RCV001694204]	benign	2	168969131	168969132	Human		name
153301555	CV1685787	deletion	NM_003742.4(ABCB11):c.1197+180_1197+193del	not provided [RCV002260764]	likely benign	2	168979673	168979686	Human		name
155795768	CV1861494	deletion	NM_003742.4(ABCB11):c.1197+191_1197+193del	not provided [RCV002469776]	likely benign	2	168979673	168979675	Human		name
150505692	CV1286255	insertion	NM_003742.4(ABCB11):c.2344-31_2344-30insAAC	not provided [RCV001719681]	benign	2	168944991	168944992	Human		name
150475732	CV1271234	insertion	NM_003742.4(ABCB11):c.2075+295_2075+296insAAAG	not provided [RCV001696057]	benign	2	168968131	168968132	Human		name
150463887	CV1214848	insertion	NM_003742.4(ABCB11):c.77-330_77-329insGTCAGATCTTCTTCAGCTAATTTAGAAAT	not provided [RCV001613844]	benign	2	169017128	169017129	Human		name

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