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.1295G>C (p.Arg432Thr)	SNV Germline	Chr2:168976590	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Single Submitter	CA253880	rs_121908935	2 SubmittersRCV000006974 RCV001851714
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.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.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.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.150+1G>A	SNV Germline	Chr2:169014302	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA10606063	rs_886043875	2 SubmittersRCV000311661 RCV004567834
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.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.3148C>T (p.Arg1050Cys)	SNV Germline	Chr2:168932442	Pathogenic	Abnormal liver function tests during pregnancy Pruritus Intrahepatic cholestasis Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951095	rs_72549398	4 SubmittersRCV000414921 RCV001090457 RCV003470365
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.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.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.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.1622T>C (p.Ile541Thr)	SNV Germline	Chr2:168971863	Conflicting classifications of pathogenicity	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 1	Criteria Provided Conflicting Classifications	CA1951531	rs_753994013	4 SubmittersRCV000597368 RCV003459468 RCV004742520 RCV005898672
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.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.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.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.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.409G>T (p.Glu137Ter)	SNV Germline	Chr2:168996703	Pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349132826	rs_1026511416	3 SubmittersRCV000728475 RCV003472261
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.390-1G>T	SNV Germline	Chr2:168996723	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA349132952	rs_1558917090	4 SubmittersRCV000729596 RCV003461004 RCV003965512
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.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.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.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.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.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.2316T>A (p.Tyr772Ter)	SNV Germline	Chr2:168957991	Pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349106720	rs_1371940395	2 SubmittersRCV001222725 RCV004570528
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.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.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.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.1429G>T (p.Gly477Ter)	SNV Germline	Chr2:168973720	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349116903	rs_2105967839	2 SubmittersRCV001383070 RCV004570948
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.3875G>A (p.Gly1292Glu)	SNV Germline	Chr2:168923713	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349117072	rs_1553543921	1 SubmittersRCV001839472
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.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.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.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.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.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.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.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.1198-2A>C	SNV Germline	Chr2:168976689	Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349119600	rs_2545409225	2 SubmittersRCV002828116 RCV003465839
NM_003742.4(ABCB11):c.477+1G>A	SNV Germline	Chr2:168996634	Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA349132493	rs_1247734675	2 SubmittersRCV002863443 RCV004571398
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.2178+1G>T	SNV Germline	Chr2:168964205	Pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349108982	rs_1459273753	2 SubmittersRCV003464969 RCV003553983
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)	SNV Germline	Chr2:168993715	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts	CA349127660	rs_2545450042	2 SubmittersRCV003465009 RCV006269844
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)	SNV Unknown	Chr2:168995393	Pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349131319	rs_2545453686	1 SubmittersRCV003474388
NM_003742.4(ABCB11):c.98+2T>C	SNV Unknown	Chr2:169016776	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349106896	rs_2545491327	1 SubmittersRCV003474398
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)	SNV Unknown	Chr2:168970167	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349114090	rs_1693517014	1 SubmittersRCV003474408
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)	SNV Unknown	Chr2:168995471	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349132082	rs_2545453964	1 SubmittersRCV003474419
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)	SNV Germline	Chr2:169018061	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349107341	rs_1695418522	2 SubmittersRCV003475576 RCV003779006
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)	SNV Unknown	Chr2:168970169	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349114101	rs_2545383503	1 SubmittersRCV003466149
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)	SNV Unknown	Chr2:168986112	Pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349123803	rs_2545431362	1 SubmittersRCV003464823
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.713G>T (p.Gly238Val)	SNV Unknown	Chr2:168993781	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA59897099	rs_72551306	1 SubmittersRCV003466610
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.435T>G (p.Tyr145Ter)	SNV Unknown	Chr2:168996677	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349132685	rs_766402285	1 SubmittersRCV003468378
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.2011+1G>T	SNV Germline	Chr2:168969349	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1951411	rs_376632574	2 SubmittersRCV003475714 RCV003779163
NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)	SNV Unknown	Chr2:168936342	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349124705	rs_2545271850	1 SubmittersRCV003475744
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.1636C>T (p.Gln546Ter)	SNV Germline	Chr2:168971849	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349115171	rs_111482608	2 SubmittersRCV003461951 RCV003699110
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.2815-2A>G	SNV Unknown	Chr2:168935427	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349124275	rs_2545267498	1 SubmittersRCV003460306
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.2343+1G>C	SNV Unknown	Chr2:168957963	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter	CA349106655	rs_774411820	1 SubmittersRCV003460380
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)	SNV Germline	Chr2:168996720	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349132943	rs_2545457176	2 SubmittersRCV003475640 RCV005100262
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.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.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.784-1G>T	SNV Unknown	Chr2:168990926	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter		rs_1186246637	1 SubmittersRCV004574378
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.99-2A>T	SNV Unknown	Chr2:169014356	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter		rs_2545487369	1 SubmittersRCV004573640
NM_003742.4(ABCB11):c.2943C>A (p.Tyr981Ter)	SNV Unknown	Chr2:168935297	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter		rs_145720664	1 SubmittersRCV004575454
NM_003742.4(ABCB11):c.1984C>T (p.Gln662Ter)	SNV Unknown	Chr2:168969377	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter		rs_1252769722	1 SubmittersRCV004575505
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.3586C>T (p.Gln1196Ter)	SNV Unknown	Chr2:168927188	Pathogenic	Benign recurrent intrahepatic cholestasis type 2	Criteria Provided Single Submitter		rs_2545236621	1 SubmittersRCV004575623
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.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.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.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.1295G>C (p.Arg432Thr)

SNV
Germline

Chr2:168976590

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Single Submitter

CA253880

rs_121908935

2 SubmittersRCV000006974 RCV001851714

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.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.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.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.150+1G>A

SNV
Germline

Chr2:169014302

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10606063

rs_886043875

2 SubmittersRCV000311661 RCV004567834

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.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.3148C>T (p.Arg1050Cys)

SNV
Germline

Chr2:168932442

Pathogenic

Abnormal liver function tests during pregnancy
Pruritus
Intrahepatic cholestasis
Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1951095

rs_72549398

4 SubmittersRCV000414921 RCV001090457 RCV003470365

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.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.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.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.1622T>C (p.Ile541Thr)

SNV
Germline

Chr2:168971863

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1951531

rs_753994013

4 SubmittersRCV000597368 RCV003459468 RCV004742520 RCV005898672

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.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.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.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.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.409G>T (p.Glu137Ter)

SNV
Germline

Chr2:168996703

Pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349132826

rs_1026511416

3 SubmittersRCV000728475 RCV003472261

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.390-1G>T

SNV
Germline

Chr2:168996723

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349132952

rs_1558917090

4 SubmittersRCV000729596 RCV003461004 RCV003965512

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.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.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.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.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.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.2316T>A (p.Tyr772Ter)

SNV
Germline

Chr2:168957991

Pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349106720

rs_1371940395

2 SubmittersRCV001222725 RCV004570528

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.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.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.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.1429G>T (p.Gly477Ter)

SNV
Germline

Chr2:168973720

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349116903

rs_2105967839

2 SubmittersRCV001383070 RCV004570948

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.3875G>A (p.Gly1292Glu)

SNV
Germline

Chr2:168923713

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349117072

rs_1553543921

1 SubmittersRCV001839472

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.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.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.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.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.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.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.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.1198-2A>C

SNV
Germline

Chr2:168976689

Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349119600

rs_2545409225

2 SubmittersRCV002828116 RCV003465839

NM_003742.4(ABCB11):c.477+1G>A

SNV
Germline

Chr2:168996634

Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349132493

rs_1247734675

2 SubmittersRCV002863443 RCV004571398

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.2178+1G>T

SNV
Germline

Chr2:168964205

Pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349108982

rs_1459273753

2 SubmittersRCV003464969 RCV003553983

NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)

SNV
Germline

Chr2:168993715

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349127660

rs_2545450042

2 SubmittersRCV003465009 RCV006269844

NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)

SNV
Unknown

Chr2:168995393

Pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349131319

rs_2545453686

1 SubmittersRCV003474388

NM_003742.4(ABCB11):c.98+2T>C

SNV
Unknown

Chr2:169016776

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349106896

rs_2545491327

1 SubmittersRCV003474398

NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)

SNV
Unknown

Chr2:168970167

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349114090

rs_1693517014

1 SubmittersRCV003474408

NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)

SNV
Unknown

Chr2:168995471

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349132082

rs_2545453964

1 SubmittersRCV003474419

NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)

SNV
Germline

Chr2:169018061

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349107341

rs_1695418522

2 SubmittersRCV003475576 RCV003779006

NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)

SNV
Unknown

Chr2:168970169

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349114101

rs_2545383503

1 SubmittersRCV003466149

NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)

SNV
Unknown

Chr2:168986112

Pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349123803

rs_2545431362

1 SubmittersRCV003464823

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.713G>T (p.Gly238Val)

SNV
Unknown

Chr2:168993781

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA59897099

rs_72551306

1 SubmittersRCV003466610

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.435T>G (p.Tyr145Ter)

SNV
Unknown

Chr2:168996677

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349132685

rs_766402285

1 SubmittersRCV003468378

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.2011+1G>T

SNV
Germline

Chr2:168969349

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1951411

rs_376632574

2 SubmittersRCV003475714 RCV003779163

NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)

SNV
Unknown

Chr2:168936342

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349124705

rs_2545271850

1 SubmittersRCV003475744

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.1636C>T (p.Gln546Ter)

SNV
Germline

Chr2:168971849

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349115171

rs_111482608

2 SubmittersRCV003461951 RCV003699110

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.2815-2A>G

SNV
Unknown

Chr2:168935427

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349124275

rs_2545267498

1 SubmittersRCV003460306

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.2343+1G>C

SNV
Unknown

Chr2:168957963

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

CA349106655

rs_774411820

1 SubmittersRCV003460380

NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)

SNV
Germline

Chr2:168996720

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349132943

rs_2545457176

2 SubmittersRCV003475640 RCV005100262

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.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.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.784-1G>T

SNV
Unknown

Chr2:168990926

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

rs_1186246637

1 SubmittersRCV004574378

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.99-2A>T

SNV
Unknown

Chr2:169014356

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

rs_2545487369

1 SubmittersRCV004573640

NM_003742.4(ABCB11):c.2943C>A (p.Tyr981Ter)

SNV
Unknown

Chr2:168935297

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

rs_145720664

1 SubmittersRCV004575454

NM_003742.4(ABCB11):c.1984C>T (p.Gln662Ter)

SNV
Unknown

Chr2:168969377

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

rs_1252769722

1 SubmittersRCV004575505

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.3586C>T (p.Gln1196Ter)

SNV
Unknown

Chr2:168927188

Pathogenic

Benign recurrent intrahepatic cholestasis type 2

Criteria Provided
Single Submitter

rs_2545236621

1 SubmittersRCV004575623

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.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.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.3422G>T (p.Gly1141Val)

SNV
Germline

Chr2:168927352