Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)	SNV Germline	Chr2:168970131	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 See cases Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts	CA253876	rs_72549401	8 SubmittersRCV000006967 RCV001851713 RCV003472992 RCV004742222 RCV005025019 RCV004797757 RCV006451891
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	SNV Germline	Chr2:168990819	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Condition: not provided Cholestasis, intrahepatic, of pregnancy, 3 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA253878	rs_11568372	18 SubmittersRCV000006968 RCV000403023 RCV000258070 RCV000725832 RCV001003930 RCV003904813 RCV005357086
NM_003742.4(ABCB11):c.150+3A>C	SNV Germline	Chr2:169014300	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253879	rs_387906354	3 SubmittersRCV000006972 RCV002482836 RCV003555949
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)	SNV Germline	Chr2:168932421	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA253881	rs_72549397	6 SubmittersRCV000006975 RCV000729078 RCV003472993
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)	SNV Germline	Chr2:169014326	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA245228	rs_183406496	8 SubmittersRCV000178197 RCV001130408 RCV003937611
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)	SNV Germline	Chr2:168964283	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951365	rs_150572999	5 SubmittersRCV000318703 RCV001133840 RCV001413506 RCV003939953
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)	SNV Germline	Chr2:168976637	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1951642	rs_183390670	4 SubmittersRCV000390845 RCV001828186 RCV004984775
NM_003742.4(ABCB11):c.3411+9C>T	SNV Germline	Chr2:168930656	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951037	rs_201287126	5 SubmittersRCV000322696 RCV001135196 RCV003957422 RCV005396879
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)	SNV Germline	Chr2:168976604	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951635	rs_11568360	4 SubmittersRCV000339581 RCV000725478 RCV001276311
NM_003742.4(ABCB11):c.2012-8T>G	SNV Germline	Chr2:168968498	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA1951396	rs_769910565	10 SubmittersRCV000339283 RCV000763464 RCV000779283 RCV001003555 RCV003401248 RCV003463756 RCV003492026
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)	SNV Germline	Chr2:168927262	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951001	rs_183621659	7 SubmittersRCV000400668 RCV001133700 RCV003920081
NM_003742.4(ABCB11):c.908+1G>A	SNV Germline	Chr2:168990800	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951769	rs_147649016	3 SubmittersRCV000277672 RCV005016673
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)	SNV Germline	Chr2:169013426	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951939	rs_371965391	3 SubmittersRCV000363165 RCV002487232
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)	SNV Germline	Chr2:168930693	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951041	rs_756220860	5 SubmittersRCV000392290 RCV003469236 RCV005252859
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)	SNV Germline	Chr2:168964259	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951362	rs_201800225	8 SubmittersRCV000319364 RCV000765532 RCV001196787 RCV004742361
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)	SNV Germline	Chr2:168993827	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951818	rs_199841445	5 SubmittersRCV000388879 RCV003469242 RCV004742363 RCV005252861
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)	SNV Germline	Chr2:168924730	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1950957	rs_758069019	8 SubmittersRCV000280694 RCV001833374 RCV003463766
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)	SNV Germline	Chr2:168970146	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA10605968	rs_886043807	8 SubmittersRCV000275712 RCV001828248 RCV003463770 RCV005016677
NM_003742.4(ABCB11):c.3766-10C>T	SNV Germline	Chr2:168923832	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950931	rs_369104228	3 SubmittersRCV000360354 RCV001274995
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)	SNV Germline	Chr2:168972040	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Cholestasis, progressive familial intrahepatic, 4	Criteria Provided Multiple Submitters No Conflicts	CA1951562	rs_72549402	12 SubmittersRCV000352712 RCV000779284 RCV001198579 RCV002494878 RCV004742365 RCV004783771
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	SNV Germline	Chr2:168927317	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951010	rs_72549395	12 SubmittersRCV000333806 RCV000984920 RCV003930155 RCV003463773 RCV005025436
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)	SNV Germline	Chr2:168986263	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951751	rs_372382608	5 SubmittersRCV000266807 RCV000285586 RCV000726340
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)	SNV Germline	Chr2:169013505	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951949	rs_140587295	3 SubmittersRCV000380520 RCV001276313
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)	SNV Germline	Chr2:168996704	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951893	rs_183214630	8 SubmittersRCV000278769 RCV000726407 RCV001135476 RCV003949942
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	SNV Germline	Chr2:168972025	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951559	rs_188824058	16 SubmittersRCV000396656 RCV000761414 RCV000763465 RCV001003929 RCV001805001 RCV003401274 RCV003469246
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	SNV Germline	Chr2:168958011	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA1951315	rs_763782349	8 SubmittersRCV000390625 RCV001833399 RCV003897653 RCV003475921 RCV003330629
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)	SNV Germline	Chr2:168964297	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951368	rs_141862495	7 SubmittersRCV000303326 RCV000324012 RCV001559194 RCV003401276
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)	SNV Germline	Chr2:168958009	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1951313	rs_200087122	5 SubmittersRCV000401723 RCV001130869 RCV004021326
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)	SNV Germline	Chr2:168936233	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951191	rs_192375476	5 SubmittersRCV000297837 RCV001130164 RCV003910048
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)	SNV Germline	Chr2:168968486	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10611690	rs_886055065	2 SubmittersRCV000309285 RCV001501568
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)	SNV Germline	Chr2:168990899	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951787	rs_369671177	3 SubmittersRCV000291401 RCV000979484
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)	SNV Germline	Chr2:168964221	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951356	rs_762791891	2 SubmittersRCV000343287 RCV001419109
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)	SNV Germline	Chr2:168979950	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951685	rs_369132677	3 SubmittersRCV000315603 RCV000978849 RCV003897760
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)	SNV Germline	Chr2:168935313	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951149	rs_199940188	6 SubmittersRCV000295539 RCV000596459 RCV003940331
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)	SNV Germline	Chr2:168944700	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951259	rs_372757355	3 SubmittersRCV000394888 RCV001452902
NM_003742.4(ABCB11):c.2075+7T>A	SNV Germline	Chr2:168968420	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10612843	rs_768511849	2 SubmittersRCV000358126 RCV001453843
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)	SNV Germline	Chr2:169013494	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951947	rs_11568361	6 SubmittersRCV000429228 RCV000726831 RCV001130407
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)	SNV Germline	Chr2:168986257	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 not specified Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA16603975	rs_770497192	10 SubmittersRCV000436930 RCV000985103 RCV003323535 RCV004720255
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)	SNV Germline	Chr2:168990858	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951783	rs_200739891	8 SubmittersRCV000730938 RCV001133958 RCV003392240
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)	SNV Germline	Chr2:168935333	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951153	rs_201881755	5 SubmittersRCV000424387 RCV000730642 RCV001130162 RCV003942361
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)	SNV Germline	Chr2:168944925	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA16616898	rs_1060499579	8 SubmittersRCV000477943 RCV000728860 RCV001835812 RCV003401507 RCV003476146
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)	SNV Germline	Chr2:168935354	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951156	rs_201087979	5 SubmittersRCV000503632 RCV000727180 RCV001130163
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)	SNV Germline	Chr2:168968466	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951389	rs_200912109	5 SubmittersRCV000593560 RCV001135336 RCV003952946
NM_003742.4(ABCB11):c.477+8G>T	SNV Germline	Chr2:168996627	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951883	rs_745477056	3 SubmittersRCV000593916 RCV001135475
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	SNV Germline	Chr2:168936415	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder not specified Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951218	rs_745557569	7 SubmittersRCV000597477 RCV002283494 RCV003465339 RCV004742519 RCV005407779 RCV005621978
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)	SNV Germline	Chr2:168996703	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA59898882	rs_1026511416	3 SubmittersRCV000594421 RCV005252979
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)	SNV Germline	Chr2:168936261	Conflicting classifications of pathogenicity	Condition: not provided not specified Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951194	rs_200488448	5 SubmittersRCV000591821 RCV003117361 RCV002476297 RCV003900319
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr2:168973741	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951591	rs_774824767	4 SubmittersRCV000594300 RCV001829648
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)	SNV Germline	Chr2:168944720	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA59880798	rs_376255350	8 SubmittersRCV000594076 RCV003465341 RCV004579556 RCV005019018 RCV005252980
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)	SNV Germline	Chr2:169013487	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951945	rs_11568362	4 SubmittersRCV000595893 RCV001829659
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)	SNV Germline	Chr2:168996709	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951894	rs_752992432	4 SubmittersRCV000595582 RCV003319383 RCV003465343
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)	SNV Germline	Chr2:168976631	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951639	rs_140138979	4 SubmittersRCV000592185 RCV001131006 RCV003962704
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)	SNV Germline	Chr2:168936262	Pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951195	rs_756529333	5 SubmittersRCV000593762 RCV003459472 RCV004742525 RCV005411497
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp)	SNV Germline	Chr2:169013410	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951935	rs_762571776	4 SubmittersRCV000592295 RCV004024798 RCV005252984
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)	SNV Germline	Chr2:168973753	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951595	rs_200148505	5 SubmittersRCV000597511 RCV002483632
NM_003742.4(ABCB11):c.1810-1G>A	SNV Germline	Chr2:168969552	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349112728	rs_1553466082	2 SubmittersRCV000596690 RCV005252985
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)	SNV Germline	Chr2:168930808	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951060	rs_72549396	5 SubmittersRCV000592143 RCV003465346 RCV005252986
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	SNV Germline	Chr2:168944721	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951262	rs_772294884	10 SubmittersRCV000597325 RCV001329749 RCV001261597 RCV002509461 RCV003338678 RCV005621981
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)	SNV Germline	Chr2:168927250	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950997	rs_200709879	4 SubmittersRCV000593746 RCV000923870 RCV001133699
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)	SNV Germline	Chr2:168936276	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951196	rs_199514789	3 SubmittersRCV000591659 RCV001130865
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)	SNV Germline	Chr2:168944650	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA59880726	rs_1014304470	4 SubmittersRCV000611396 RCV000730830 RCV001130867
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)	SNV Germline	Chr2:168986131	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951725	rs_376258647	4 SubmittersRCV000614653 RCV001133956 RCV001484771 RCV003962824
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)	SNV Germline	Chr2:168995454	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951858	rs_200870815	5 SubmittersRCV000728289 RCV002477682 RCV003338772
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)	SNV Germline	Chr2:168968465	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951388	rs_776223452	3 SubmittersRCV000729414 RCV001825452
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)	SNV Germline	Chr2:168993796	Conflicting classifications of pathogenicity	Condition: not provided ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951811	rs_758339239	5 SubmittersRCV000729594 RCV003420294 RCV003465661 RCV005253096
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)	SNV Germline	Chr2:169013507	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951952	rs_763526610	7 SubmittersRCV000729750 RCV003461005 RCV005253097 RCV004689870 RCV005021129
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	SNV Germline	Chr2:168970091	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA59880134	rs_917981474	6 SubmittersRCV000729841 RCV001805834 RCV002499353 RCV003472263 RCV004742613
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)	SNV Germline	Chr2:168990813	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951774	rs_2287617	5 SubmittersRCV000730334 RCV001133957 RCV003947925
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)	SNV Germline	Chr2:168935296	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951147	rs_72549399	6 SubmittersRCV000730828 RCV002499359 RCV003987684 RCV004569414
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	SNV Germline	Chr2:168964289	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA59876857	rs_867525294	9 SubmittersRCV000730913 RCV002265870 RCV005021133 RCV001251098 RCV003461007 RCV003955458
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser)	SNV Germline	Chr2:168924793	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA59868562	rs_1033490064	3 SubmittersRCV000731565 RCV005253099
NM_003742.4(ABCB11):c.3411+10G>A	SNV Germline	Chr2:168930655	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951036	rs_188996270	5 SubmittersRCV000731990 RCV001135195 RCV003965533
NM_003742.4(ABCB11):c.2178+1G>A	SNV Germline	Chr2:168964205	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA349108985	rs_1459273753	10 SubmittersRCV000732522 RCV001729696 RCV002485920 RCV003461009 RCV004742622
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)	SNV Germline	Chr2:168924746	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950965	rs_772241929	5 SubmittersRCV000734213 RCV004569420 RCV003485639
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)	SNV Germline	Chr2:168935398	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA349124165	rs_1559183717	6 SubmittersRCV000734399 RCV002477730 RCV003472270 RCV003155301
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)	SNV Germline	Chr2:168971935	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951545	rs_760750012	6 SubmittersRCV000735158 RCV003465671 RCV004586912 RCV005021143
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)	SNV Unknown	Chr2:168973733	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349117008	rs_1558898789	1 SubmittersRCV000761413
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)	SNV Germline	Chr2:168930694	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951042	rs_764581483	12 SubmittersRCV000792487 RCV001825543 RCV003461069 RCV004742637 RCV005056557 RCV005622027
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)	SNV Germline	Chr2:168924789	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950972	rs_772714766	2 SubmittersRCV000930127 RCV001133695
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)	SNV Germline	Chr2:168971955	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951550	rs_374701109	3 SubmittersRCV000930594 RCV001130295 RCV004743209
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys)	SNV Germline	Chr2:168969424	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1951425	rs_756725213	3 SubmittersRCV000982065 RCV001274331 RCV005652480
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)	SNV Germline	Chr2:169013404	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349105194	rs_1258387740	2 SubmittersRCV000986928
NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)	SNV Germline	Chr2:168936427	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951222	rs_559849564	3 SubmittersRCV000997300 RCV003485672
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	SNV Germline	Chr2:168924753	Conflicting classifications of pathogenicity	Cholestasis, intrahepatic, of pregnancy, 3 Benign recurrent intrahepatic cholestasis type 2 Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950966	rs_199649780	4 SubmittersRCV001003551 RCV003473542 RCV003480901 RCV005253677
NM_003742.4(ABCB11):c.2343+1G>T	SNV Germline	Chr2:168957963	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA59873809	rs_774411820	5 SubmittersRCV001039189 RCV001274996 RCV003983825 RCV005029590
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=)	SNV Germline	Chr2:168927183	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA429912779	rs_1454008881	2 SubmittersRCV001133696 RCV003669196
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)	SNV Germline	Chr2:168958105	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1951326	rs_369865521	3 SubmittersRCV001133838 RCV002070566 RCV003413941
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)	SNV Germline	Chr2:168970207	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA429914471	rs_1244153418	3 SubmittersRCV001135338 RCV001426720 RCV004743297
NM_003742.4(ABCB11):c.681C>A (p.Thr227=)	SNV Germline	Chr2:168993813	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA429917304	rs_1401834885	2 SubmittersRCV001135472 RCV005093602
NM_003742.4(ABCB11):c.585G>A (p.Val195=)	SNV Germline	Chr2:168995375	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA59898046	rs_11568365	2 SubmittersRCV001135473 RCV001432576
NM_003742.4(ABCB11):c.3057-12G>A	SNV Germline	Chr2:168932545	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA59873323	rs_748204442	2 SubmittersRCV001130161 RCV003736994
NM_003742.4(ABCB11):c.1435-11A>G	SNV Germline	Chr2:168972061	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951566	rs_762147612	2 SubmittersRCV001130297 RCV006465445
NM_003742.4(ABCB11):c.1434+14A>G	SNV Germline	Chr2:168973701	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951585	rs_201816834	2 SubmittersRCV001130298 RCV003558696
NM_003742.4(ABCB11):c.1197+13C>T	SNV Germline	Chr2:168979853	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1951669	rs_781492309	2 SubmittersRCV001131008 RCV003574838
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)	SNV Germline	Chr2:168924794	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349118415	rs_1691232631	6 SubmittersRCV001214261 RCV001828705 RCV003469360 RCV005021515
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	SNV Germline	Chr2:168971992	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951553	rs_752043324	6 SubmittersRCV001223263 RCV001828781 RCV002298908 RCV003405409 RCV003469388 RCV005021534
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	SNV Germline	Chr2:168973740	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349117050	rs_1463057954	8 SubmittersRCV001229767 RCV001836183 RCV003469404 RCV003953592 RCV004587083 RCV005029798
NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp)	SNV Germline	Chr2:168923786	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1950921	rs_555881834	2 SubmittersRCV001242198 RCV005253759
NM_003742.4(ABCB11):c.3412-1G>A	SNV Germline	Chr2:168927363	Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349120050	rs_1691365745	2 SubmittersRCV001225462 RCV005014261
NM_003742.4(ABCB11):c.908+1G>T	SNV Germline	Chr2:168990800	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349125435	rs_147649016	2 SubmittersRCV001228394 RCV005253752
NM_003742.4(ABCB11):c.98+1G>A	SNV Germline	Chr2:169016777	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349106904	rs_1695369774	2 SubmittersRCV001246457 RCV005614503
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	SNV Germline	Chr2:168924731	Pathogenic/Likely pathogenic	Familial intrahepatic cholestasis type 2 Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1950958	rs_766285158	9 SubmittersRCV001250138 RCV002568703 RCV003984855 RCV003462827 RCV005029842
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)	SNV Germline	Chr2:168930694	Pathogenic/Likely pathogenic	Familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951043	rs_764581483	2 SubmittersRCV001250137 RCV003485692
NM_003742.4(ABCB11):c.2178+2T>C	SNV Germline	Chr2:168964204	Pathogenic/Likely pathogenic	Familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349108977	rs_1693198121	3 SubmittersRCV001250140 RCV003485694
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)	SNV Germline	Chr2:168979907	Pathogenic	Familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951680	rs_764125510	3 SubmittersRCV001250136 RCV003485691
NM_003742.4(ABCB11):c.908+1G>C	SNV Germline	Chr2:168990800	Pathogenic/Likely pathogenic	Familial intrahepatic cholestasis type 2 Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA349125436	rs_147649016	4 SubmittersRCV001250139 RCV002570415 RCV003485693 RCV003898245
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)	SNV Germline	Chr2:168923816	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1950925	rs_769983873	3 SubmittersRCV001389369 RCV003339632 RCV004570972
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)	SNV Germline	Chr2:168927316	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951009	rs_748862206	6 SubmittersRCV001390800 RCV001831406 RCV003469781
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)	SNV Germline	Chr2:168972025	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts	CA349116096	rs_188824058	3 SubmittersRCV001383194 RCV001831384 RCV006453668
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)	SNV Germline	Chr2:168923626	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA1950893	rs_201693189	4 SubmittersRCV001465421 RCV001732185 RCV003946210
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	SNV Germline	Chr2:169018065	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA59878037	rs_377170187	3 SubmittersRCV001559148 RCV001559149 RCV002570722 RCV005660146
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)	SNV Germline	Chr2:168924694	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950954	rs_761200259	3 SubmittersRCV001823613
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)	SNV Germline	Chr2:168973734	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951590	rs_369860506	5 SubmittersRCV001892790 RCV003319485 RCV005016737 RCV003464202
NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg)	SNV Germline	Chr2:168932496	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349122556	rs_2105891596	2 SubmittersRCV002019629 RCV005254009
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)	SNV Germline	Chr2:168969454	Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951433	rs_199671371	5 SubmittersRCV002043209 RCV003475285 RCV005254016
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)	SNV Germline	Chr2:168971864	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts	CA59881211	rs_979738325	4 SubmittersRCV001992798 RCV003464278 RCV005253950 RCV005924327
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	SNV Germline	Chr2:168976642	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349119131	rs_913644236	4 SubmittersRCV001985494 RCV002471196 RCV003475198
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	SNV Germline	Chr2:168993817	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA501084	rs_1382100120	8 SubmittersRCV001958485 RCV003152782 RCV003941221 RCV003401948 RCV003464279
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)	SNV Germline	Chr2:168995461	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951859	rs_139641883	7 SubmittersRCV001985500 RCV003464280 RCV004587264 RCV003911123 RCV005253951 RCV005016921
NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter)	SNV Germline	Chr2:168923684	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349116925	rs_1691171678	2 SubmittersRCV002002347 RCV005025517
NM_003742.4(ABCB11):c.664C>T (p.Gln222Ter)	SNV Germline	Chr2:168993830	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349128979	rs_1292921760	2 SubmittersRCV001993193 RCV005253957
NM_003742.4(ABCB11):c.2256G>A (p.Trp752Ter)	SNV Germline	Chr2:168958051	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349106846	rs_1401892400	2 SubmittersRCV001999990 RCV005253962
NM_003742.4(ABCB11):c.150+2T>C	SNV Germline	Chr2:169014301	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349106095	rs_1210590064	2 SubmittersRCV002037162 RCV005253902
NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter)	SNV Germline	Chr2:169013497	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349105882	rs_1447134419	2 SubmittersRCV001960745 RCV005253970
NM_003742.4(ABCB11):c.76+1G>A	SNV Germline	Chr2:169018049	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Conflicting Classifications	CA349107252	rs_1413569310	4 SubmittersRCV002016741 RCV003475286 RCV005254018 RCV004744210
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)	SNV Germline	Chr2:168932426	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951093	rs_747153406	3 SubmittersRCV001901346 RCV003485742
NM_003742.4(ABCB11):c.2343+2T>C	SNV Germline	Chr2:168957962	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349106653	rs_2105934712	2 SubmittersRCV001956300 RCV005253982
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)	SNV Germline	Chr2:168970146	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349113987	rs_886043807	3 SubmittersRCV003323968 RCV002008190 RCV005254001
NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)	SNV Germline	Chr2:168995477	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951863	rs_777119489	2 SubmittersRCV001944310 RCV005253945
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	SNV Germline	Chr2:168924719	Pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA59868462	rs_866839234	4 SubmittersRCV001918685 RCV003475163 RCV003448430
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)	SNV Germline	Chr2:168973744	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349117077	rs_2105967973	1 SubmittersRCV002052110
NM_003742.4(ABCB11):c.611+1G>A	SNV Germline	Chr2:168995348	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951841	rs_769134865	4 SubmittersRCV002052254 RCV002551233 RCV003475303
NM_003742.4(ABCB11):c.2179-1G>A	SNV Germline	Chr2:168958129	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349107184	rs_2105935255	1 SubmittersRCV002248954
NM_003742.4(ABCB11):c.2076-1G>A	SNV Germline	Chr2:168964309	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349109611	rs_2105947080	1 SubmittersRCV002248955
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)	SNV Germline	Chr2:168930676	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349120871	rs_2105888359	2 SubmittersRCV002251145 RCV003688954
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val)	SNV Germline	Chr2:168932507	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349122576	rs_1171209104	2 SubmittersRCV002275540 RCV005254048
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)	SNV Germline	Chr2:168964298	Conflicting classifications of pathogenicity	not specified ABCB11-related disorder Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951369	rs_376216286	4 SubmittersRCV002283409 RCV003971229 RCV003464432 RCV005254050
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)	SNV Germline	Chr2:168979903	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA1951678	rs_372784355	5 SubmittersRCV003101627 RCV003464434 RCV005025763 RCV005254051 RCV005433195
NM_003742.4(ABCB11):c.2075+3A>G	SNV Unknown	Chr2:168968424	Pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided	CA2531440804	rs_2545376269	1 SubmittersRCV002285213
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)	SNV Unknown	Chr2:168924760	Pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided	CA349118268	rs_2545228941	1 SubmittersRCV002285214
NM_003742.4(ABCB11):c.151-9T>G	SNV Unknown	Chr2:169013519	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided	CA2580064388	rs_765860589	1 SubmittersRCV002285215
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)	SNV Unknown	Chr2:168923776	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided	CA59867824	rs_201296827	1 SubmittersRCV002285216
NM_003742.4(ABCB11):c.3631A>G (p.Asn1211Asp)	SNV Germline	Chr2:168924791	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1950973	rs_762729346	2 SubmittersRCV003091197 RCV005356274
NM_003742.4(ABCB11):c.2011+1G>C	SNV Germline	Chr2:168969349	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349111627	rs_376632574	3 SubmittersRCV003091842 RCV005021554 RCV005254703
NM_003742.4(ABCB11):c.2843G>A (p.Arg948His)	SNV Germline	Chr2:168935397	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951164	rs_766286901	2 SubmittersRCV002620793 RCV003992711
NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)	SNV Germline	Chr2:168972026	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951560	rs_770693935	3 SubmittersRCV002629858 RCV005028315 RCV005254715
NM_003742.4(ABCB11):c.77-2A>G	SNV Germline	Chr2:169016801	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349107073	rs_2545491426	2 SubmittersRCV002810390 RCV005254134
NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)	SNV Germline	Chr2:168972025	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349116094	rs_188824058	2 SubmittersRCV002959103 RCV005254649
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)	SNV Germline	Chr2:168923785	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA59867827	rs_72549394	4 SubmittersRCV003230993 RCV003485866 RCV006251226
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)	SNV Germline	Chr2:168971998	Conflicting classifications of pathogenicity	not specified Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349115979	rs_1366346212	3 SubmittersRCV003331757 RCV003459838 RCV005254770
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)	SNV Germline	Chr2:168990902	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349125751	rs_2287616	1 SubmittersRCV003337899
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)	SNV Germline	Chr2:168973761	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349117177	rs_1163486377	3 SubmittersRCV003466579 RCV005021982 RCV005254802
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)	SNV Germline	Chr2:168964307	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951372	rs_748837264	3 SubmittersRCV003466600 RCV004741612 RCV005254803
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)	SNV Germline	Chr2:168957991	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349106719	rs_1371940395	3 SubmittersRCV003464944 RCV003553978 RCV005254804
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)	SNV Germline	Chr2:168970145	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349113981	rs_2545383308	2 SubmittersRCV003468515 RCV005254807
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)	SNV Germline	Chr2:168935237	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA429913216	rs_1691763747	2 SubmittersRCV003475801 RCV005254808
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)	SNV Germline	Chr2:168944887	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided not specified Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA429985397	rs_2545299717	4 SubmittersRCV003460265 RCV003732600 RCV004587502 RCV005021992
NM_003742.4(ABCB11):c.1198-1G>C	SNV Germline	Chr2:168976688	Pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349119589	rs_1171005948	2 SubmittersRCV003460321 RCV005254805
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)	SNV Germline	Chr2:168970045	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA429914281	rs_2545382640	2 SubmittersRCV003448770 RCV005419629
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:169018124	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349107870	rs_2545494283	1 SubmittersRCV003485957
NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)	SNV Germline	Chr2:168930843	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349122079	rs_373201488	1 SubmittersRCV003485958
NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)	SNV Germline	Chr2:168936341	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349124702	rs_1421685722	1 SubmittersRCV003485959
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)	SNV Germline	Chr2:169013354	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349104925	rs_2545484771	1 SubmittersRCV003485961
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)	SNV Germline	Chr2:168970094	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349113747	rs_2545383010	1 SubmittersRCV003485962
NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)	SNV Germline	Chr2:168986204	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Single Submitter	CA1951737	rs_747888517	2 SubmittersRCV003485964 RCV004723335
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)	SNV Germline	Chr2:168993773	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA429917255	rs_2545450310	2 SubmittersRCV003485987
NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)	SNV Germline	Chr2:168976626	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349119000	rs_1693919240	2 SubmittersRCV003554968 RCV005254827
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)	SNV Germline	Chr2:168924788	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349118389	rs_546906441	3 SubmittersRCV003554962 RCV004818375
NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)	SNV Germline	Chr2:168932509	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349122583	rs_1356859208	3 SubmittersRCV003554964 RCV005254826 RCV005622243
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)	SNV Germline	Chr2:168935229	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349123408	rs_375151067	2 SubmittersRCV003554965 RCV003988131
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)	SNV Germline	Chr2:168924731	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1950959	rs_766285158	2 SubmittersRCV003570851 RCV005254841
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)	SNV Germline	Chr2:168973740	Conflicting classifications of pathogenicity	Condition: not provided ABCB11-related disorder Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349117048	rs_1463057954	3 SubmittersRCV003569398 RCV004723387 RCV005254843
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)	SNV Germline	Chr2:168970091	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA349113726	rs_917981474	2 SubmittersRCV003664110 RCV005254848
NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)	SNV Germline	Chr2:168986164	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349124098	rs_751446926	2 SubmittersRCV003673549 RCV005014830
NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)	SNV Germline	Chr2:168986281	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349124739	rs_2545432325	2 SubmittersRCV003678069 RCV005030176
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)	SNV Unknown	Chr2:168972001	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349115989	rs_2545389626	1 SubmittersRCV003985209
NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)	SNV Germline	Chr2:168969365	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349111784	rs_1326800279	1 SubmittersRCV003988679
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)	SNV Germline	Chr2:168924798	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349118433	rs_959196154	2 SubmittersRCV003988734 RCV005103165
NM_003742.4(ABCB11):c.1604C>A (p.Ala535Asp)	SNV Germline	Chr2:168971881	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349115405	rs_2545389014	1 SubmittersRCV003989922
NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)	SNV Germline	Chr2:168958035	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349106809	rs_2545345449	1 SubmittersRCV003988946
NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)	SNV Germline	Chr2:168971917	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications	CA1951540	rs_769652427	3 SubmittersRCV004544217 RCV005015178 RCV005254903
NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)	SNV Germline	Chr2:169014304	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 not specified	Criteria Provided Conflicting Classifications		rs_771468316	4 SubmittersRCV004787133 RCV004574792 RCV006264315
NM_003742.4(ABCB11):c.263A>T (p.Asp88Val)	SNV Germline	Chr2:169013398	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 not specified	Criteria Provided Conflicting Classifications		rs_1695251731	3 SubmittersRCV004575596 RCV005254914 RCV006455861
NM_003742.4(ABCB11):c.3695C>A (p.Ala1232Asp)	SNV Germline	Chr2:168924727	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications		rs_2545228642	2 SubmittersRCV004586139 RCV005023592
NM_003742.4(ABCB11):c.3382C>A (p.Arg1128Ser)	SNV Germline	Chr2:168930694	Conflicting classifications of pathogenicity	not specified Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV004690904 RCV005017212
NM_003742.4(ABCB11):c.3329C>A (p.Ala1110Glu)	SNV Germline	Chr2:168930747	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV004766615 RCV005254950
NM_003742.4(ABCB11):c.1259T>A (p.Ile420Asn)	SNV Germline	Chr2:168976626	Conflicting classifications of pathogenicity	Cholestasis, progressive familial intrahepatic, 4 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV004784867 RCV005254955
NM_003742.4(ABCB11):c.783+1G>A	SNV Germline	Chr2:168993710	Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			2 SubmittersRCV006274467 RCV005402183
NM_003742.4(ABCB11):c.3006T>G (p.Tyr1002Ter)	SNV Germline	Chr2:168935234	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV004818882
NM_003742.4(ABCB11):c.2115C>A (p.Tyr705Ter)	SNV Germline	Chr2:168964269	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005030401
NM_003742.4(ABCB11):c.1062T>A (p.Tyr354Ter)	SNV Germline	Chr2:168986131	Pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005018205 RCV005254972
NM_003742.4(ABCB11):c.822T>G (p.Tyr274Ter)	SNV Germline	Chr2:168990887	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005018206
NM_003742.4(ABCB11):c.566G>A (p.Trp189Ter)	SNV Germline	Chr2:168995394	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005018207
NM_003742.4(ABCB11):c.151-1G>A	SNV Germline	Chr2:169013511	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005018208
NM_003742.4(ABCB11):c.76+29T>G	SNV Germline	Chr2:169018021	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV005018209 RCV005254973
NM_003742.4(ABCB11):c.3458G>C (p.Arg1153Pro)	SNV Germline	Chr2:168927316	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV005239922 RCV005255014
NM_003742.4(ABCB11):c.3123T>G (p.Tyr1041Ter)	SNV Germline	Chr2:168932467	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255312
NM_003742.4(ABCB11):c.2815-8A>G	SNV Germline	Chr2:168935433	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255316
NM_003742.4(ABCB11):c.2703C>G (p.Ser901Arg)	SNV Germline	Chr2:168936341	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255318
NM_003742.4(ABCB11):c.2693G>A (p.Trp898Ter)	SNV Germline	Chr2:168936351	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255319
NM_003742.4(ABCB11):c.2179-2A>G	SNV Germline	Chr2:168958130	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255326
NM_003742.4(ABCB11):c.2104C>T (p.Gln702Ter)	SNV Germline	Chr2:168964280	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255327
NM_003742.4(ABCB11):c.1762G>C (p.Ala588Pro)	SNV Germline	Chr2:168970092	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255331
NM_003742.4(ABCB11):c.1558A>T (p.Arg520Ter)	SNV Germline	Chr2:168971927	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255336
NM_003742.4(ABCB11):c.1544A>C (p.Asn515Thr)	SNV Germline	Chr2:168971941	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255337
NM_003742.4(ABCB11):c.1084-2A>G	SNV Germline	Chr2:168979981	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255342
NM_003742.4(ABCB11):c.909-1G>A	SNV Germline	Chr2:168986285	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255347
NM_003742.4(ABCB11):c.390-1G>A	SNV Germline	Chr2:168996723	Pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255354
NM_003742.4(ABCB11):c.386G>A (p.Cys129Tyr)	SNV Germline	Chr2:169013275	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005255355 RCV006456024
NM_003742.4(ABCB11):c.3692G>T (p.Arg1231Leu)	SNV Germline	Chr2:168924730	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255363
NM_003742.4(ABCB11):c.3383G>C (p.Arg1128Pro)	SNV Germline	Chr2:168930693	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005255365
NM_003742.4(ABCB11):c.3412-1G>T	SNV Germline	Chr2:168927363	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005360196
NM_003742.4(ABCB11):c.1A>T (p.Met1Leu)	SNV Unknown	Chr2:169018125	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005403710
NM_003742.4(ABCB11):c.941G>A (p.Trp314Ter)	SNV Germline	Chr2:168986252	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided			1 SubmittersRCV005617439
NM_003742.4(ABCB11):c.1638+1G>C	SNV Germline	Chr2:168971846	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2	No Assertion Criteria Provided			1 SubmittersRCV005619103
NM_003742.4(ABCB11):c.3422G>T (p.Gly1141Val)	SNV Germline	Chr2:168927352	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005622939
NM_003742.4(ABCB11):c.3355A>G (p.Lys1119Glu)	SNV Germline	Chr2:168930721	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005622941
NM_003742.4(ABCB11):c.1549C>T (p.Arg517Cys)	SNV Germline	Chr2:168971936	Likely pathogenic	Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005622945

NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)

SNV
Germline

Chr2:168970131

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
See cases
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA253876

rs_72549401

8 SubmittersRCV000006967 RCV001851713 RCV003472992 RCV004742222 RCV005025019 RCV004797757 RCV006451891

NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)

SNV
Germline

Chr2:168990819

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Condition: not provided
Cholestasis, intrahepatic, of pregnancy, 3
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA253878

rs_11568372

18 SubmittersRCV000006968 RCV000403023 RCV000258070 RCV000725832 RCV001003930 RCV003904813 RCV005357086

NM_003742.4(ABCB11):c.150+3A>C

SNV
Germline

Chr2:169014300

Pathogenic/Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253879

rs_387906354

3 SubmittersRCV000006972 RCV002482836 RCV003555949

NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)

SNV
Germline

Chr2:168932421

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA253881

rs_72549397

6 SubmittersRCV000006975 RCV000729078 RCV003472993

NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)

SNV
Germline

Chr2:169014326

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA245228

rs_183406496

8 SubmittersRCV000178197 RCV001130408 RCV003937611

NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)

SNV
Germline

Chr2:168964283

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951365

rs_150572999

5 SubmittersRCV000318703 RCV001133840 RCV001413506 RCV003939953

NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)

SNV
Germline

Chr2:168976637

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1951642

rs_183390670

4 SubmittersRCV000390845 RCV001828186 RCV004984775

NM_003742.4(ABCB11):c.3411+9C>T

SNV
Germline

Chr2:168930656

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951037

rs_201287126

5 SubmittersRCV000322696 RCV001135196 RCV003957422 RCV005396879

NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)

SNV
Germline

Chr2:168976604

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951635

rs_11568360

4 SubmittersRCV000339581 RCV000725478 RCV001276311

NM_003742.4(ABCB11):c.2012-8T>G

SNV
Germline

Chr2:168968498

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Cholestasis, intrahepatic, of pregnancy, 3
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA1951396

rs_769910565

10 SubmittersRCV000339283 RCV000763464 RCV000779283 RCV001003555 RCV003401248 RCV003463756 RCV003492026

NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)

SNV
Germline

Chr2:168927262

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951001

rs_183621659

7 SubmittersRCV000400668 RCV001133700 RCV003920081

NM_003742.4(ABCB11):c.908+1G>A

SNV
Germline

Chr2:168990800

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951769

rs_147649016

3 SubmittersRCV000277672 RCV005016673

NM_003742.4(ABCB11):c.235G>A (p.Val79Met)

SNV
Germline

Chr2:169013426

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951939

rs_371965391

3 SubmittersRCV000363165 RCV002487232

NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)

SNV
Germline

Chr2:168930693

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951041

rs_756220860

5 SubmittersRCV000392290 RCV003469236 RCV005252859

NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)

SNV
Germline

Chr2:168964259

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951362

rs_201800225

8 SubmittersRCV000319364 RCV000765532 RCV001196787 RCV004742361

NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)

SNV
Germline

Chr2:168993827

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951818

rs_199841445

5 SubmittersRCV000388879 RCV003469242 RCV004742363 RCV005252861

NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)

SNV
Germline

Chr2:168924730

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1950957

rs_758069019

8 SubmittersRCV000280694 RCV001833374 RCV003463766

NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)

SNV
Germline

Chr2:168970146

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10605968

rs_886043807

8 SubmittersRCV000275712 RCV001828248 RCV003463770 RCV005016677

NM_003742.4(ABCB11):c.3766-10C>T

SNV
Germline

Chr2:168923832

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950931

rs_369104228

3 SubmittersRCV000360354 RCV001274995

NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr2:168972040

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Cholestasis, progressive familial intrahepatic, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA1951562

rs_72549402

12 SubmittersRCV000352712 RCV000779284 RCV001198579 RCV002494878 RCV004742365 RCV004783771

NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)

SNV
Germline

Chr2:168927317

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951010

rs_72549395

12 SubmittersRCV000333806 RCV000984920 RCV003930155 RCV003463773 RCV005025436

NM_003742.4(ABCB11):c.930C>T (p.Phe310=)

SNV
Germline

Chr2:168986263

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951751

rs_372382608

5 SubmittersRCV000266807 RCV000285586 RCV000726340

NM_003742.4(ABCB11):c.156G>A (p.Arg52=)

SNV
Germline

Chr2:169013505

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951949

rs_140587295

3 SubmittersRCV000380520 RCV001276313

NM_003742.4(ABCB11):c.408C>T (p.Ser136=)

SNV
Germline

Chr2:168996704

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951893

rs_183214630

8 SubmittersRCV000278769 RCV000726407 RCV001135476 RCV003949942

NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)

SNV
Germline

Chr2:168972025

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951559

rs_188824058

16 SubmittersRCV000396656 RCV000761414 RCV000763465 RCV001003929 RCV001805001 RCV003401274 RCV003469246

NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)

SNV
Germline

Chr2:168958011

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA1951315

rs_763782349

8 SubmittersRCV000390625 RCV001833399 RCV003897653 RCV003475921 RCV003330629

NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)

SNV
Germline

Chr2:168964297

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951368

rs_141862495

7 SubmittersRCV000303326 RCV000324012 RCV001559194 RCV003401276

NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)

SNV
Germline

Chr2:168958009

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1951313

rs_200087122

5 SubmittersRCV000401723 RCV001130869 RCV004021326

NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)

SNV
Germline

Chr2:168936233

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951191

rs_192375476

5 SubmittersRCV000297837 RCV001130164 RCV003910048

NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)

SNV
Germline

Chr2:168968486

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611690

rs_886055065

2 SubmittersRCV000309285 RCV001501568

NM_003742.4(ABCB11):c.810G>A (p.Glu270=)

SNV
Germline

Chr2:168990899

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951787

rs_369671177

3 SubmittersRCV000291401 RCV000979484

NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)

SNV
Germline

Chr2:168964221

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951356

rs_762791891

2 SubmittersRCV000343287 RCV001419109

NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)

SNV
Germline

Chr2:168979950

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951685

rs_369132677

3 SubmittersRCV000315603 RCV000978849 RCV003897760

NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)

SNV
Germline

Chr2:168935313

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951149

rs_199940188

6 SubmittersRCV000295539 RCV000596459 RCV003940331

NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)

SNV
Germline

Chr2:168944700

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951259

rs_372757355

3 SubmittersRCV000394888 RCV001452902

NM_003742.4(ABCB11):c.2075+7T>A

SNV
Germline

Chr2:168968420

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612843

rs_768511849

2 SubmittersRCV000358126 RCV001453843

NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)

SNV
Germline

Chr2:169013494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951947

rs_11568361

6 SubmittersRCV000429228 RCV000726831 RCV001130407

NM_003742.4(ABCB11):c.936G>T (p.Gln312His)

SNV
Germline

Chr2:168986257

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
not specified
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA16603975

rs_770497192

10 SubmittersRCV000436930 RCV000985103 RCV003323535 RCV004720255

NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)

SNV
Germline

Chr2:168990858

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951783

rs_200739891

8 SubmittersRCV000730938 RCV001133958 RCV003392240

NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)

SNV
Germline

Chr2:168935333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951153

rs_201881755

5 SubmittersRCV000424387 RCV000730642 RCV001130162 RCV003942361

NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr2:168944925

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16616898

rs_1060499579

8 SubmittersRCV000477943 RCV000728860 RCV001835812 RCV003401507 RCV003476146

NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)

SNV
Germline

Chr2:168935354

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951156

rs_201087979

5 SubmittersRCV000503632 RCV000727180 RCV001130163

NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)

SNV
Germline

Chr2:168968466

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951389

rs_200912109

5 SubmittersRCV000593560 RCV001135336 RCV003952946

NM_003742.4(ABCB11):c.477+8G>T

SNV
Germline

Chr2:168996627

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951883

rs_745477056

3 SubmittersRCV000593916 RCV001135475

NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)

SNV
Germline

Chr2:168936415

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
not specified
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951218

rs_745557569

7 SubmittersRCV000597477 RCV002283494 RCV003465339 RCV004742519 RCV005407779 RCV005621978

NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)

SNV
Germline

Chr2:168996703

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA59898882

rs_1026511416

3 SubmittersRCV000594421 RCV005252979

NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)

SNV
Germline

Chr2:168936261

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951194

rs_200488448

5 SubmittersRCV000591821 RCV003117361 RCV002476297 RCV003900319

NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)

SNV
Germline

Chr2:168973741

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951591

rs_774824767

4 SubmittersRCV000594300 RCV001829648

NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)

SNV
Germline

Chr2:168944720

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA59880798

rs_376255350

8 SubmittersRCV000594076 RCV003465341 RCV004579556 RCV005019018 RCV005252980

NM_003742.4(ABCB11):c.174C>T (p.Asp58=)

SNV
Germline

Chr2:169013487

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951945

rs_11568362

4 SubmittersRCV000595893 RCV001829659

NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)

SNV
Germline

Chr2:168996709

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951894

rs_752992432

4 SubmittersRCV000595582 RCV003319383 RCV003465343

NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)

SNV
Germline

Chr2:168976631

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951639

rs_140138979

4 SubmittersRCV000592185 RCV001131006 RCV003962704

NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)

SNV
Germline

Chr2:168936262

Pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951195

rs_756529333

5 SubmittersRCV000593762 RCV003459472 RCV004742525 RCV005411497

NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp)

SNV
Germline

Chr2:169013410

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951935

rs_762571776

4 SubmittersRCV000592295 RCV004024798 RCV005252984

NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)

SNV
Germline

Chr2:168973753

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951595

rs_200148505

5 SubmittersRCV000597511 RCV002483632

NM_003742.4(ABCB11):c.1810-1G>A

SNV
Germline

Chr2:168969552

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349112728

rs_1553466082

2 SubmittersRCV000596690 RCV005252985

NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)

SNV
Germline

Chr2:168930808

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951060

rs_72549396

5 SubmittersRCV000592143 RCV003465346 RCV005252986

NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)

SNV
Germline

Chr2:168944721

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951262

rs_772294884

10 SubmittersRCV000597325 RCV001329749 RCV001261597 RCV002509461 RCV003338678 RCV005621981

NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)

SNV
Germline

Chr2:168927250

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950997

rs_200709879

4 SubmittersRCV000593746 RCV000923870 RCV001133699

NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)

SNV
Germline

Chr2:168936276

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951196

rs_199514789

3 SubmittersRCV000591659 RCV001130865

NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)

SNV
Germline

Chr2:168944650

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA59880726

rs_1014304470

4 SubmittersRCV000611396 RCV000730830 RCV001130867

NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)

SNV
Germline

Chr2:168986131

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951725

rs_376258647

4 SubmittersRCV000614653 RCV001133956 RCV001484771 RCV003962824

NM_003742.4(ABCB11):c.506G>A (p.Arg169His)

SNV
Germline

Chr2:168995454

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951858

rs_200870815

5 SubmittersRCV000728289 RCV002477682 RCV003338772

NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)

SNV
Germline

Chr2:168968465

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951388

rs_776223452

3 SubmittersRCV000729414 RCV001825452

NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)

SNV
Germline

Chr2:168993796

Conflicting classifications of pathogenicity

Condition: not provided
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951811

rs_758339239

5 SubmittersRCV000729594 RCV003420294 RCV003465661 RCV005253096

NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)

SNV
Germline

Chr2:169013507

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951952

rs_763526610

7 SubmittersRCV000729750 RCV003461005 RCV005253097 RCV004689870 RCV005021129

NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)

SNV
Germline

Chr2:168970091

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA59880134

rs_917981474

6 SubmittersRCV000729841 RCV001805834 RCV002499353 RCV003472263 RCV004742613

NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)

SNV
Germline

Chr2:168990813

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951774

rs_2287617

5 SubmittersRCV000730334 RCV001133957 RCV003947925

NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)

SNV
Germline

Chr2:168935296

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951147

rs_72549399

6 SubmittersRCV000730828 RCV002499359 RCV003987684 RCV004569414

NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)

SNV
Germline

Chr2:168964289

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA59876857

rs_867525294

9 SubmittersRCV000730913 RCV002265870 RCV005021133 RCV001251098 RCV003461007 RCV003955458

NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser)

SNV
Germline

Chr2:168924793

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA59868562

rs_1033490064

3 SubmittersRCV000731565 RCV005253099

NM_003742.4(ABCB11):c.3411+10G>A

SNV
Germline

Chr2:168930655

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951036

rs_188996270

5 SubmittersRCV000731990 RCV001135195 RCV003965533

NM_003742.4(ABCB11):c.2178+1G>A

SNV
Germline

Chr2:168964205

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349108985

rs_1459273753

10 SubmittersRCV000732522 RCV001729696 RCV002485920 RCV003461009 RCV004742622

NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)

SNV
Germline

Chr2:168924746

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950965

rs_772241929

5 SubmittersRCV000734213 RCV004569420 RCV003485639

NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)

SNV
Germline

Chr2:168935398

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA349124165

rs_1559183717

6 SubmittersRCV000734399 RCV002477730 RCV003472270 RCV003155301

NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)

SNV
Germline

Chr2:168971935

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951545

rs_760750012

6 SubmittersRCV000735158 RCV003465671 RCV004586912 RCV005021143

NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)

SNV
Unknown

Chr2:168973733

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349117008

rs_1558898789

1 SubmittersRCV000761413

NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)

SNV
Germline

Chr2:168930694

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951042

rs_764581483

12 SubmittersRCV000792487 RCV001825543 RCV003461069 RCV004742637 RCV005056557 RCV005622027

NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)

SNV
Germline

Chr2:168924789

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950972

rs_772714766

2 SubmittersRCV000930127 RCV001133695

NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)

SNV
Germline

Chr2:168971955

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951550

rs_374701109

3 SubmittersRCV000930594 RCV001130295 RCV004743209

NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys)

SNV
Germline

Chr2:168969424

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1951425

rs_756725213

3 SubmittersRCV000982065 RCV001274331 RCV005652480

NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)

SNV
Germline

Chr2:169013404

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349105194

rs_1258387740

2 SubmittersRCV000986928

NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)

SNV
Germline

Chr2:168936427

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951222

rs_559849564

3 SubmittersRCV000997300 RCV003485672

NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)

SNV
Germline

Chr2:168924753

Conflicting classifications of pathogenicity

Cholestasis, intrahepatic, of pregnancy, 3
Benign recurrent intrahepatic cholestasis type 2
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950966

rs_199649780

4 SubmittersRCV001003551 RCV003473542 RCV003480901 RCV005253677

NM_003742.4(ABCB11):c.2343+1G>T

SNV
Germline

Chr2:168957963

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA59873809

rs_774411820

5 SubmittersRCV001039189 RCV001274996 RCV003983825 RCV005029590

NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=)

SNV
Germline

Chr2:168927183

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA429912779

rs_1454008881

2 SubmittersRCV001133696 RCV003669196

NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)

SNV
Germline

Chr2:168958105

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1951326

rs_369865521

3 SubmittersRCV001133838 RCV002070566 RCV003413941

NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)

SNV
Germline

Chr2:168970207

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA429914471

rs_1244153418

3 SubmittersRCV001135338 RCV001426720 RCV004743297

NM_003742.4(ABCB11):c.681C>A (p.Thr227=)

SNV
Germline

Chr2:168993813

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA429917304

rs_1401834885

2 SubmittersRCV001135472 RCV005093602

NM_003742.4(ABCB11):c.585G>A (p.Val195=)

SNV
Germline

Chr2:168995375

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA59898046

rs_11568365

2 SubmittersRCV001135473 RCV001432576

NM_003742.4(ABCB11):c.3057-12G>A

SNV
Germline

Chr2:168932545

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA59873323

rs_748204442

2 SubmittersRCV001130161 RCV003736994

NM_003742.4(ABCB11):c.1435-11A>G

SNV
Germline

Chr2:168972061

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951566

rs_762147612

2 SubmittersRCV001130297 RCV006465445

NM_003742.4(ABCB11):c.1434+14A>G

SNV
Germline

Chr2:168973701

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951585

rs_201816834

2 SubmittersRCV001130298 RCV003558696

NM_003742.4(ABCB11):c.1197+13C>T

SNV
Germline

Chr2:168979853

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1951669

rs_781492309

2 SubmittersRCV001131008 RCV003574838

NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)

SNV
Germline

Chr2:168924794

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349118415

rs_1691232631

6 SubmittersRCV001214261 RCV001828705 RCV003469360 RCV005021515

NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)

SNV
Germline

Chr2:168971992

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951553

rs_752043324

6 SubmittersRCV001223263 RCV001828781 RCV002298908 RCV003405409 RCV003469388 RCV005021534

NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)

SNV
Germline

Chr2:168973740

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349117050

rs_1463057954

8 SubmittersRCV001229767 RCV001836183 RCV003469404 RCV003953592 RCV004587083 RCV005029798

NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp)

SNV
Germline

Chr2:168923786

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1950921

rs_555881834

2 SubmittersRCV001242198 RCV005253759

NM_003742.4(ABCB11):c.3412-1G>A

SNV
Germline

Chr2:168927363

Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349120050

rs_1691365745

2 SubmittersRCV001225462 RCV005014261

NM_003742.4(ABCB11):c.908+1G>T

SNV
Germline

Chr2:168990800

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349125435

rs_147649016

2 SubmittersRCV001228394 RCV005253752

NM_003742.4(ABCB11):c.98+1G>A

SNV
Germline

Chr2:169016777

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349106904

rs_1695369774

2 SubmittersRCV001246457 RCV005614503

NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)

SNV
Germline

Chr2:168924731

Pathogenic/Likely pathogenic

Familial intrahepatic cholestasis type 2
Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1950958

rs_766285158

9 SubmittersRCV001250138 RCV002568703 RCV003984855 RCV003462827 RCV005029842

NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)

SNV
Germline

Chr2:168930694

Pathogenic/Likely pathogenic

Familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951043

rs_764581483

2 SubmittersRCV001250137 RCV003485692

NM_003742.4(ABCB11):c.2178+2T>C

SNV
Germline

Chr2:168964204

Pathogenic/Likely pathogenic

Familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349108977

rs_1693198121

3 SubmittersRCV001250140 RCV003485694

NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)

SNV
Germline

Chr2:168979907

Pathogenic

Familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951680

rs_764125510

3 SubmittersRCV001250136 RCV003485691

NM_003742.4(ABCB11):c.908+1G>C

SNV
Germline

Chr2:168990800

Pathogenic/Likely pathogenic

Familial intrahepatic cholestasis type 2
Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349125436

rs_147649016

4 SubmittersRCV001250139 RCV002570415 RCV003485693 RCV003898245

NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)

SNV
Germline

Chr2:168923816

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1950925

rs_769983873

3 SubmittersRCV001389369 RCV003339632 RCV004570972

NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)

SNV
Germline

Chr2:168927316

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951009

rs_748862206

6 SubmittersRCV001390800 RCV001831406 RCV003469781

NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)

SNV
Germline

Chr2:168972025

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349116096

rs_188824058

3 SubmittersRCV001383194 RCV001831384 RCV006453668

NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)

SNV
Germline

Chr2:168923626

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA1950893

rs_201693189

4 SubmittersRCV001465421 RCV001732185 RCV003946210

NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)

SNV
Germline

Chr2:169018065

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA59878037

rs_377170187

3 SubmittersRCV001559148 RCV001559149 RCV002570722 RCV005660146

NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)

SNV
Germline

Chr2:168924694

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950954

rs_761200259

3 SubmittersRCV001823613

NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)

SNV
Germline

Chr2:168973734

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951590

rs_369860506

5 SubmittersRCV001892790 RCV003319485 RCV005016737 RCV003464202

NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg)

SNV
Germline

Chr2:168932496

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349122556

rs_2105891596

2 SubmittersRCV002019629 RCV005254009

NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)

SNV
Germline

Chr2:168969454

Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951433

rs_199671371

5 SubmittersRCV002043209 RCV003475285 RCV005254016

NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)

SNV
Germline

Chr2:168971864

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA59881211

rs_979738325

4 SubmittersRCV001992798 RCV003464278 RCV005253950 RCV005924327

NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)

SNV
Germline

Chr2:168976642

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349119131

rs_913644236

4 SubmittersRCV001985494 RCV002471196 RCV003475198

NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)

SNV
Germline

Chr2:168993817

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA501084

rs_1382100120

8 SubmittersRCV001958485 RCV003152782 RCV003941221 RCV003401948 RCV003464279

NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)

SNV
Germline

Chr2:168995461

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951859

rs_139641883

7 SubmittersRCV001985500 RCV003464280 RCV004587264 RCV003911123 RCV005253951 RCV005016921

NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter)

SNV
Germline

Chr2:168923684

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349116925

rs_1691171678

2 SubmittersRCV002002347 RCV005025517

NM_003742.4(ABCB11):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr2:168993830

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349128979

rs_1292921760

2 SubmittersRCV001993193 RCV005253957

NM_003742.4(ABCB11):c.2256G>A (p.Trp752Ter)

SNV
Germline

Chr2:168958051

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349106846

rs_1401892400

2 SubmittersRCV001999990 RCV005253962

NM_003742.4(ABCB11):c.150+2T>C

SNV
Germline

Chr2:169014301

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349106095

rs_1210590064

2 SubmittersRCV002037162 RCV005253902

NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter)

SNV
Germline

Chr2:169013497

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349105882

rs_1447134419

2 SubmittersRCV001960745 RCV005253970

NM_003742.4(ABCB11):c.76+1G>A

SNV
Germline

Chr2:169018049

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Conflicting Classifications

CA349107252

rs_1413569310

4 SubmittersRCV002016741 RCV003475286 RCV005254018 RCV004744210

NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)

SNV
Germline

Chr2:168932426

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951093

rs_747153406

3 SubmittersRCV001901346 RCV003485742

NM_003742.4(ABCB11):c.2343+2T>C

SNV
Germline

Chr2:168957962

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349106653

rs_2105934712

2 SubmittersRCV001956300 RCV005253982

NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)

SNV
Germline

Chr2:168970146

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349113987

rs_886043807

3 SubmittersRCV003323968 RCV002008190 RCV005254001

NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)

SNV
Germline

Chr2:168995477

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951863

rs_777119489

2 SubmittersRCV001944310 RCV005253945

NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)

SNV
Germline

Chr2:168924719

Pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA59868462

rs_866839234

4 SubmittersRCV001918685 RCV003475163 RCV003448430

NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr2:168973744

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349117077

rs_2105967973

1 SubmittersRCV002052110

NM_003742.4(ABCB11):c.611+1G>A

SNV
Germline

Chr2:168995348

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951841

rs_769134865

4 SubmittersRCV002052254 RCV002551233 RCV003475303

NM_003742.4(ABCB11):c.2179-1G>A

SNV
Germline

Chr2:168958129

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349107184

rs_2105935255

1 SubmittersRCV002248954

NM_003742.4(ABCB11):c.2076-1G>A

SNV
Germline

Chr2:168964309

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349109611

rs_2105947080

1 SubmittersRCV002248955

NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)

SNV
Germline

Chr2:168930676

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349120871

rs_2105888359

2 SubmittersRCV002251145 RCV003688954

NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val)

SNV
Germline

Chr2:168932507

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349122576

rs_1171209104

2 SubmittersRCV002275540 RCV005254048

NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)

SNV
Germline

Chr2:168964298

Conflicting classifications of pathogenicity

not specified
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951369

rs_376216286

4 SubmittersRCV002283409 RCV003971229 RCV003464432 RCV005254050

NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)

SNV
Germline

Chr2:168979903

Conflicting classifications of pathogenicity

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA1951678

rs_372784355

5 SubmittersRCV003101627 RCV003464434 RCV005025763 RCV005254051 RCV005433195

NM_003742.4(ABCB11):c.2075+3A>G

SNV
Unknown

Chr2:168968424

Pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

CA2531440804

rs_2545376269

1 SubmittersRCV002285213

NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)

SNV
Unknown

Chr2:168924760

Pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

CA349118268

rs_2545228941

1 SubmittersRCV002285214

NM_003742.4(ABCB11):c.151-9T>G

SNV
Unknown

Chr2:169013519

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

CA2580064388

rs_765860589

1 SubmittersRCV002285215

NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)

SNV
Unknown

Chr2:168923776

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

CA59867824

rs_201296827

1 SubmittersRCV002285216

NM_003742.4(ABCB11):c.3631A>G (p.Asn1211Asp)

SNV
Germline

Chr2:168924791

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1950973

rs_762729346

2 SubmittersRCV003091197 RCV005356274

NM_003742.4(ABCB11):c.2011+1G>C

SNV
Germline

Chr2:168969349

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349111627

rs_376632574

3 SubmittersRCV003091842 RCV005021554 RCV005254703

NM_003742.4(ABCB11):c.2843G>A (p.Arg948His)

SNV
Germline

Chr2:168935397

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951164

rs_766286901

2 SubmittersRCV002620793 RCV003992711

NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)

SNV
Germline

Chr2:168972026

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951560

rs_770693935

3 SubmittersRCV002629858 RCV005028315 RCV005254715

NM_003742.4(ABCB11):c.77-2A>G

SNV
Germline

Chr2:169016801

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349107073

rs_2545491426

2 SubmittersRCV002810390 RCV005254134

NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)

SNV
Germline

Chr2:168972025

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349116094

rs_188824058

2 SubmittersRCV002959103 RCV005254649

NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)

SNV
Germline

Chr2:168923785

Pathogenic/Likely pathogenic

Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA59867827

rs_72549394

4 SubmittersRCV003230993 RCV003485866 RCV006251226

NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)

SNV
Germline

Chr2:168971998

Conflicting classifications of pathogenicity

not specified
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349115979

rs_1366346212

3 SubmittersRCV003331757 RCV003459838 RCV005254770

NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)

SNV
Germline

Chr2:168990902

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349125751

rs_2287616

1 SubmittersRCV003337899

NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)

SNV
Germline

Chr2:168973761

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349117177

rs_1163486377

3 SubmittersRCV003466579 RCV005021982 RCV005254802

NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)

SNV
Germline

Chr2:168964307

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 2
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951372

rs_748837264

3 SubmittersRCV003466600 RCV004741612 RCV005254803

NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)

SNV
Germline

Chr2:168957991

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349106719

rs_1371940395

3 SubmittersRCV003464944 RCV003553978 RCV005254804

NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)

SNV
Germline

Chr2:168970145

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349113981

rs_2545383308

2 SubmittersRCV003468515 RCV005254807

NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)

SNV
Germline

Chr2:168935237

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA429913216

rs_1691763747

2 SubmittersRCV003475801 RCV005254808

NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)

SNV
Germline

Chr2:168944887

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided
not specified
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA429985397

rs_2545299717

4 SubmittersRCV003460265 RCV003732600 RCV004587502 RCV005021992

NM_003742.4(ABCB11):c.1198-1G>C

SNV
Germline

Chr2:168976688

Pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349119589

rs_1171005948

2 SubmittersRCV003460321 RCV005254805

NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)

SNV
Germline

Chr2:168970045

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA429914281

rs_2545382640

2 SubmittersRCV003448770 RCV005419629

NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:169018124

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349107870

rs_2545494283

1 SubmittersRCV003485957

NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)

SNV
Germline

Chr2:168930843

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349122079

rs_373201488

1 SubmittersRCV003485958

NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)

SNV
Germline

Chr2:168936341

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349124702

rs_1421685722

1 SubmittersRCV003485959

NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)

SNV
Germline

Chr2:169013354

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349104925

rs_2545484771

1 SubmittersRCV003485961

NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)

SNV
Germline

Chr2:168970094

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349113747

rs_2545383010

1 SubmittersRCV003485962

NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)

SNV
Germline

Chr2:168986204

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder

Criteria Provided
Single Submitter

CA1951737

rs_747888517

2 SubmittersRCV003485964 RCV004723335

NM_003742.4(ABCB11):c.721C>T (p.Leu241=)

SNV
Germline

Chr2:168993773

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA429917255

rs_2545450310

2 SubmittersRCV003485987

NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)

SNV
Germline

Chr2:168976626

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349119000

rs_1693919240

2 SubmittersRCV003554968 RCV005254827

NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)

SNV
Germline

Chr2:168924788

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349118389

rs_546906441

3 SubmittersRCV003554962 RCV004818375

NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)

SNV
Germline

Chr2:168932509

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349122583

rs_1356859208

3 SubmittersRCV003554964 RCV005254826 RCV005622243

NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)

SNV
Germline

Chr2:168935229

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349123408

rs_375151067

2 SubmittersRCV003554965 RCV003988131

NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)

SNV
Germline

Chr2:168924731

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1950959

rs_766285158

2 SubmittersRCV003570851 RCV005254841

NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)

SNV
Germline

Chr2:168973740

Conflicting classifications of pathogenicity

Condition: not provided
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349117048

rs_1463057954

3 SubmittersRCV003569398 RCV004723387 RCV005254843

NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)

SNV
Germline

Chr2:168970091

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA349113726

rs_917981474

2 SubmittersRCV003664110 RCV005254848

NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)

SNV
Germline

Chr2:168986164

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349124098

rs_751446926

2 SubmittersRCV003673549 RCV005014830

NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)

SNV
Germline

Chr2:168986281

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349124739

rs_2545432325

2 SubmittersRCV003678069 RCV005030176

NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)

SNV
Unknown

Chr2:168972001

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349115989

rs_2545389626

1 SubmittersRCV003985209

NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)

SNV
Germline

Chr2:168969365

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349111784

rs_1326800279

1 SubmittersRCV003988679

NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)

SNV
Germline

Chr2:168924798

Pathogenic/Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349118433

rs_959196154

2 SubmittersRCV003988734 RCV005103165

NM_003742.4(ABCB11):c.1604C>A (p.Ala535Asp)

SNV
Germline

Chr2:168971881

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349115405

rs_2545389014

1 SubmittersRCV003989922

NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)

SNV
Germline

Chr2:168958035

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349106809

rs_2545345449

1 SubmittersRCV003988946

NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)

SNV
Germline

Chr2:168971917

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

CA1951540

rs_769652427

3 SubmittersRCV004544217 RCV005015178 RCV005254903

NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)

SNV
Germline

Chr2:169014304

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
not specified

Criteria Provided
Conflicting Classifications

rs_771468316

4 SubmittersRCV004787133 RCV004574792 RCV006264315

NM_003742.4(ABCB11):c.263A>T (p.Asp88Val)

SNV
Germline

Chr2:169013398

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2
not specified

Criteria Provided
Conflicting Classifications

rs_1695251731

3 SubmittersRCV004575596 RCV005254914 RCV006455861

NM_003742.4(ABCB11):c.3695C>A (p.Ala1232Asp)

SNV
Germline

Chr2:168924727

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

rs_2545228642

2 SubmittersRCV004586139 RCV005023592

NM_003742.4(ABCB11):c.3382C>A (p.Arg1128Ser)

SNV
Germline

Chr2:168930694

Conflicting classifications of pathogenicity

not specified
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690904 RCV005017212

NM_003742.4(ABCB11):c.3329C>A (p.Ala1110Glu)

SNV
Germline

Chr2:168930747

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004766615 RCV005254950

NM_003742.4(ABCB11):c.1259T>A (p.Ile420Asn)

SNV
Germline

Chr2:168976626

Conflicting classifications of pathogenicity

Cholestasis, progressive familial intrahepatic, 4
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004784867 RCV005254955

NM_003742.4(ABCB11):c.783+1G>A

SNV
Germline

Chr2:168993710

Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

2 SubmittersRCV006274467 RCV005402183

NM_003742.4(ABCB11):c.3006T>G (p.Tyr1002Ter)

SNV
Germline

Chr2:168935234

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004818882

NM_003742.4(ABCB11):c.2115C>A (p.Tyr705Ter)

SNV
Germline

Chr2:168964269

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005030401

NM_003742.4(ABCB11):c.1062T>A (p.Tyr354Ter)

SNV
Germline

Chr2:168986131

Pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005018205 RCV005254972

NM_003742.4(ABCB11):c.822T>G (p.Tyr274Ter)

SNV
Germline

Chr2:168990887

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005018206

NM_003742.4(ABCB11):c.566G>A (p.Trp189Ter)

SNV
Germline

Chr2:168995394

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005018207

NM_003742.4(ABCB11):c.151-1G>A

SNV
Germline

Chr2:169013511

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005018208

NM_003742.4(ABCB11):c.76+29T>G

SNV
Germline

Chr2:169018021

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018209 RCV005254973

NM_003742.4(ABCB11):c.3458G>C (p.Arg1153Pro)

SNV
Germline

Chr2:168927316

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005239922 RCV005255014

NM_003742.4(ABCB11):c.3123T>G (p.Tyr1041Ter)

SNV
Germline

Chr2:168932467

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255312

NM_003742.4(ABCB11):c.2815-8A>G

SNV
Germline

Chr2:168935433

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255316

NM_003742.4(ABCB11):c.2703C>G (p.Ser901Arg)

SNV
Germline

Chr2:168936341

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255318

NM_003742.4(ABCB11):c.2693G>A (p.Trp898Ter)

SNV
Germline

Chr2:168936351

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255319

NM_003742.4(ABCB11):c.2179-2A>G

SNV
Germline

Chr2:168958130

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255326

NM_003742.4(ABCB11):c.2104C>T (p.Gln702Ter)

SNV
Germline

Chr2:168964280

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255327

NM_003742.4(ABCB11):c.1762G>C (p.Ala588Pro)

SNV
Germline

Chr2:168970092

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255331

NM_003742.4(ABCB11):c.1558A>T (p.Arg520Ter)

SNV
Germline

Chr2:168971927

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255336

NM_003742.4(ABCB11):c.1544A>C (p.Asn515Thr)

SNV
Germline

Chr2:168971941

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255337

NM_003742.4(ABCB11):c.1084-2A>G

SNV
Germline

Chr2:168979981

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255342

NM_003742.4(ABCB11):c.909-1G>A

SNV
Germline

Chr2:168986285

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255347

NM_003742.4(ABCB11):c.390-1G>A

SNV
Germline

Chr2:168996723

Pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255354

NM_003742.4(ABCB11):c.386G>A (p.Cys129Tyr)

SNV
Germline

Chr2:169013275

Pathogenic/Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005255355 RCV006456024

NM_003742.4(ABCB11):c.3692G>T (p.Arg1231Leu)

SNV
Germline

Chr2:168924730

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255363

NM_003742.4(ABCB11):c.3383G>C (p.Arg1128Pro)

SNV
Germline

Chr2:168930693

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255365

NM_003742.4(ABCB11):c.3412-1G>T

SNV
Germline

Chr2:168927363

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005360196

NM_003742.4(ABCB11):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr2:169018125

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005403710

NM_003742.4(ABCB11):c.941G>A (p.Trp314Ter)

SNV
Germline

Chr2:168986252

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

1 SubmittersRCV005617439

NM_003742.4(ABCB11):c.1638+1G>C

SNV
Germline

Chr2:168971846

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2

No Assertion Criteria Provided

1 SubmittersRCV005619103

NM_003742.4(ABCB11):c.3422G>T (p.Gly1141Val)

SNV
Germline

Chr2:168927352

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005622939

NM_003742.4(ABCB11):c.3355A>G (p.Lys1119Glu)

SNV
Germline

Chr2:168930721

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005622941

NM_003742.4(ABCB11):c.1549C>T (p.Arg517Cys)

SNV
Germline

Chr2:168971936

Likely pathogenic

Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005622945