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 See cases Progressive familial intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA253876	rs_72549401	10 SubmittersRCV000006967 RCV001851713 RCV003472992 RCV004742222 RCV004797757 RCV005025019 RCV006451891 RCV006684477
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)	SNV Germline	Chr18:57695188	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder Progressive familial intrahepatic cholestasis Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA340664	rs_111033609	9 SubmittersRCV000007684 RCV000730982 RCV004547463 RCV005055508 RCV006684485
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)	SNV Germline	Chr18:57661207	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 ATP8B1-related disorder Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA254129	rs_121909098	8 SubmittersRCV000007685 RCV003555959 RCV003473051 RCV004737141 RCV004700199 RCV005025025 RCV006684486
NM_001374385.1(ATP8B1):c.2097+2T>C	SNV Germline	Chr18:57669316	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA254133	rs_387906381	7 SubmittersRCV000007687 RCV000734308 RCV003473052 RCV006684488
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	SNV Germline	Chr18:57669433	Pathogenic/Likely pathogenic	Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Condition: not provided Progressive familial intrahepatic cholestasis ATP8B1-related disorder Benign recurrent intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA254134	rs_121909100	17 SubmittersRCV000007689 RCV000007690 RCV000723736 RCV003155019 RCV004547464 RCV005025026 RCV006684489
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)	SNV Germline	Chr18:57674993	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA340666	rs_121909101	8 SubmittersRCV000007692 RCV000734790 RCV004547465 RCV006684491
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	SNV Germline	Chr18:57706561	Conflicting classifications of pathogenicity	Cholestasis, intrahepatic, of pregnancy, 1 not specified Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA118646	rs_34719006	14 SubmittersRCV000007694 RCV000177233 RCV000661994 RCV000661995 RCV000661996 RCV000952767 RCV004737142 RCV006684493
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met)	SNV Germline	Chr18:57688361	Pathogenic/Likely pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA254136	rs_121909104	4 SubmittersRCV000007696 RCV005089202 RCV006684495
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)	SNV Germline	Chr18:57674849	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA254138	rs_121909105	7 SubmittersRCV000007697 RCV001250187 RCV003555960 RCV003473053 RCV006684496
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	SNV Germline	Chr7:87431528	Conflicting classifications of pathogenicity	Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis not specified Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 1 Condition: not provided ABCB4-related disorder Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis Progressive familial intrahepatic cholestasis type 3 Familial intrahepatic cholestasis Low phospholipid associated cholelithiasis	Criteria Provided Conflicting Classifications	CA123370	rs_45575636	16 SubmittersRCV000014696 RCV000033067 RCV000249752 RCV000662150 RCV000987909 RCV000723739 RCV004545729 RCV005042052 RCV006684510
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)	SNV Germline	Chr18:57669422	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Inborn genetic diseases Condition: not provided Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA345468	rs_515726137	8 SubmittersRCV000114321 RCV000624843 RCV000726821 RCV002509220 RCV003474707 RCV006684527
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)	SNV Germline	Chr18:57731658	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA241589	rs_137973298	4 SubmittersRCV000175808 RCV000384022 RCV000724633
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)	SNV Germline	Chr7:87472655	Conflicting classifications of pathogenicity	Condition: not provided Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 3 ABCB4-related disorder Familial intrahepatic cholestasis Low phospholipid associated cholelithiasis	Criteria Provided Conflicting Classifications	CA243171	rs_142794414	10 SubmittersRCV000177067 RCV000764725 RCV000987920 RCV003992213 RCV004537422 RCV006685041
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	SNV Germline	Chr18:57697815	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Benign recurrent intrahepatic cholestasis type 1 ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA247228	rs_56355310	12 SubmittersRCV000179906 RCV000724145 RCV001123726 RCV002485177 RCV004553016 RCV006685045
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)	SNV Germline	Chr7:87443683	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 not specified Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA085475	rs_863225298	3 SubmittersRCV000987915 RCV004782324 RCV006685055
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)	SNV Germline	Chr7:87453049	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA085477	rs_863225299	4 SubmittersRCV000734366 RCV000987918 RCV006456881 RCV006685054
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)	SNV Germline	Chr12:100532538	Pathogenic	Cholestasis, progressive familial intrahepatic, 5 Progressive familial intrahepatic cholestasis type 1 Condition: not provided NR1H4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6739265	rs_113090017	4 SubmittersRCV000239570 RCV000240831 RCV002515513 RCV004754356
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)	SNV Germline	Chr18:57691850	Conflicting classifications of pathogenicity	not specified Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974642	rs_34315917	10 SubmittersRCV000246161 RCV000344311 RCV000971960 RCV006685081
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	SNV Germline	Chr7:87412017	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 3 See cases Severe early-childhood-onset retinal dystrophy ABCB4-related disorder Low phospholipid associated cholelithiasis Familial intrahepatic cholestasis Low phospholipid associated cholelithiasis	Criteria Provided Conflicting Classifications	CA4326928	rs_61730509	16 SubmittersRCV000322710 RCV000413855 RCV000987905 RCV001164952 RCV001164953 RCV002252078 RCV003989517 RCV004529459 RCV006704658 RCV006685100
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)	SNV Germline	Chr18:57695198	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 1 ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974703	rs_150860808	12 SubmittersRCV000263650 RCV000766301 RCV001122637 RCV004549616 RCV006685140
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	SNV Germline	Chr7:87440230	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 3 ABCB4-related disorder Low phospholipid associated cholelithiasis Progressive familial intrahepatic cholestasis type 3 Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA4327275	rs_375315619	18 SubmittersRCV000427203 RCV000987913 RCV001003941 RCV002298568 RCV003333058 RCV004537625 RCV005044554 RCV006685150
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)	SNV Germline	Chr18:57648590	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8973949	rs_778786114	3 SubmittersRCV000328034 RCV003765895 RCV004549724
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln)	SNV Germline	Chr18:57661383	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Inborn genetic diseases Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974236	rs_568134011	4 SubmittersRCV000307433 RCV003574750 RCV003243083 RCV006685152
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)	SNV Germline	Chr18:57691955	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 not specified Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8974657	rs_193204986	5 SubmittersRCV000402782 RCV000733110 RCV003114488 RCV004549727
NM_001374385.1(ATP8B1):c.-51C>T	SNV Germline	Chr18:57803023	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 not specified	Criteria Provided Conflicting Classifications	CA10641895	rs_150844949	2 SubmittersRCV000380376 RCV000413994
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=)	SNV Germline	Chr18:57654019	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10651147	rs_776385207	3 SubmittersRCV000300660 RCV000440127 RCV003556340
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)	SNV Germline	Chr18:57674942	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8974493	rs_35140429	4 SubmittersRCV000283339 RCV000730370 RCV004549726
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)	SNV Germline	Chr18:57648548	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 not specified Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8973931	rs_754912569	4 SubmittersRCV000270593 RCV000442154 RCV003727683 RCV004549723
NM_001374385.1(ATP8B1):c.1429+14G>A	SNV Germline	Chr18:57688285	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10651960	rs_886054012	2 SubmittersRCV000287094 RCV003765897
NM_001374385.1(ATP8B1):c.782-5A>T	SNV Germline	Chr18:57695334	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10651961	rs_886054013	2 SubmittersRCV000404765 RCV003574751
NM_001374385.1(ATP8B1):c.394-7C>T	SNV Germline	Chr18:57701320	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8974856	rs_370252509	2 SubmittersRCV000333177 RCV003736721
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)	SNV Germline	Chr18:57694597	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 1 ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974681	rs_145750280	7 SubmittersRCV000441391 RCV000726888 RCV001122636 RCV004551466 RCV006685183
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)	SNV Germline	Chr18:57688442	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive familial intrahepatic cholestasis type 1 ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974608	rs_34018205	9 SubmittersRCV000442917 RCV000767080 RCV001126304 RCV004551446 RCV006685177
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)	SNV Germline	Chr2:168971863	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 2 ABCB11-related disorder Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2	Criteria Provided Multiple Submitters No Conflicts	CA1951531	rs_753994013	6 SubmittersRCV000597368 RCV003459468 RCV004742520 RCV005898672 RCV006685213 RCV006640786
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)	SNV Germline	Chr18:57706557	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 not specified Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974918	rs_148715351	6 SubmittersRCV000593626 RCV001126391 RCV002282258 RCV003989569 RCV006685231
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)	SNV Germline	Chr18:57685107	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1	Criteria Provided Conflicting Classifications	CA8974570	rs_142231389	3 SubmittersRCV000591168 RCV001126303
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)	SNV Germline	Chr18:57674854	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 1 ATP8B1-related disorder Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA402560651	rs_1202682161	7 SubmittersRCV000593026 RCV003471966 RCV004553342 RCV003485613 RCV006685246
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)	SNV Germline	Chr7:87422220	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 not specified	Criteria Provided Conflicting Classifications	CA4327083	rs_143456575	3 SubmittersRCV000728122 RCV000987907 RCV001731911
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)	SNV Germline	Chr18:57674899	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8974485	rs_35238397	4 SubmittersRCV000728140 RCV001125341 RCV003165956
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)	SNV Germline	Chr18:57655403	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Inborn genetic diseases Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1	Criteria Provided Conflicting Classifications	CA8974172	rs_200648620	5 SubmittersRCV000729794 RCV001122544 RCV002535133 RCV004720279
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	SNV Germline	Chr18:57655271	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA8974145	rs_765889649	8 SubmittersRCV000730680 RCV003485636 RCV006685289
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	SNV Germline	Chr7:87453005	Pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis Progressive familial intrahepatic cholestasis type 3 Low phospholipid associated cholelithiasis Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 3 Cholestasis, intrahepatic, of pregnancy, 3 ABCB4-related disorder Familial intrahepatic cholestasis Low phospholipid associated cholelithiasis	Criteria Provided Multiple Submitters No Conflicts	CA4327533	rs_377160065	9 SubmittersRCV000732592 RCV000987917 RCV001003563 RCV003447558 RCV005046999 RCV005622018 RCV004535856 RCV006685302
NM_000443.4(ABCB4):c.2784-12T>C	SNV Germline	Chr7:87412045	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Progressive familial intrahepatic cholestasis ABCB4-Related Intrahepatic Cholestasis Low phospholipid associated cholelithiasis Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA4326929	rs_201498350	11 SubmittersRCV000987906 RCV002286794 RCV002282417 RCV003985096 RCV005047161 RCV005253663 RCV006685345
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)	SNV Germline	Chr7:87431552	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 3 not specified Condition: not provided Low phospholipid associated cholelithiasis Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 3 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA4327213	rs_760153272	6 SubmittersRCV000987910 RCV003158272 RCV004689944 RCV005092973 RCV005047162 RCV006685346
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	SNV Germline	Chr7:87439684	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Progressive familial intrahepatic cholestasis type 3 Familial intrahepatic cholestasis Low phospholipid associated cholelithiasis	Criteria Provided Multiple Submitters No Conflicts	CA368038050	rs_1458423947	4 SubmittersRCV000987911 RCV003769298 RCV003485670 RCV006685347
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)	SNV Unknown	Chr7:87443353	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter	CA368043656	rs_1584747270	1 SubmittersRCV000987914
NM_000443.4(ABCB4):c.1119+5G>A	SNV Unknown	Chr7:87444857	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter	CA915945329	rs_1584750653	1 SubmittersRCV000987916
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)	SNV Unknown	Chr18:57652040	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter	CA402541772	rs_1599066459	1 SubmittersRCV000990110
NM_001374385.1(ATP8B1):c.3015+1G>T	SNV Unknown	Chr18:57653991	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter	CA402545088	rs_1599069873	1 SubmittersRCV000990111
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)	SNV Germline	Chr18:57667126	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA402554701	rs_1057524081	3 SubmittersRCV000991407 RCV001254601 RCV006685349
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)	SNV Germline	Chr18:57661281	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 not specified Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974218	rs_745546266	4 SubmittersRCV001091653 RCV003339472 RCV004782645 RCV006685380
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=)	SNV Germline	Chr18:57648575	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8973944	rs_375842507	3 SubmittersRCV001125233 RCV003558690 RCV006685383
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)	SNV Germline	Chr18:57652116	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8974030	rs_140005450	3 SubmittersRCV001126210 RCV003769211 RCV004548008
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=)	SNV Germline	Chr18:57655362	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974168	rs_758180192	3 SubmittersRCV001122543 RCV003769188 RCV006685381
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=)	SNV Germline	Chr18:57691821	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA504009400	rs_1179570288	2 SubmittersRCV001128355 RCV003769229
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=)	SNV Germline	Chr18:57691926	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974653	rs_35969033	3 SubmittersRCV001128358 RCV003769230 RCV006685384
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)	SNV Germline	Chr18:57706562	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8974920	rs_201150730	2 SubmittersRCV001126392 RCV003736992
NM_001374385.1(ATP8B1):c.3401-13A>G	SNV Germline	Chr18:57650510	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8974016	rs_747437391	2 SubmittersRCV001126209 RCV003769210
NM_001374385.1(ATP8B1):c.1819+10C>T	SNV Germline	Chr18:57674824	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided ATP8B1-related disorder	Criteria Provided Conflicting Classifications	CA8974468	rs_767885426	3 SubmittersRCV001125339 RCV003565461 RCV004548002
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)	SNV Germline	Chr2:168972025	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA349116096	rs_188824058	4 SubmittersRCV001383194 RCV001831384 RCV006453668 RCV006685423
NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=)	SNV Germline	Chr18:57694582	Conflicting classifications of pathogenicity	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA300861361	rs_765716200	4 SubmittersRCV001544517 RCV003771560 RCV006685435
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)	SNV Germline	Chr18:57652705	Pathogenic	not specified Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA8974086	rs_781213892	5 SubmittersRCV001733627 RCV002508811 RCV003326001 RCV004584921 RCV006685474
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 Familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1	Criteria Provided Multiple Submitters No Conflicts	CA59881211	rs_979738325	5 SubmittersRCV001992798 RCV003464278 RCV005253950 RCV006685509 RCV005924327
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)	SNV Germline	Chr18:57655304	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 ATP8B1-related disorder Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA8974153	rs_374340059	5 SubmittersRCV002272580 RCV003096128 RCV003475320 RCV004548254 RCV006685882
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)	SNV Germline	Chr18:57684093	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA8974528	rs_770257115	5 SubmittersRCV002272668 RCV003560909 RCV004572111 RCV005025750 RCV006685883
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr18:57674855	Conflicting classifications of pathogenicity	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA402560653	rs_780186596	7 SubmittersRCV003143672 RCV003228142 RCV003475534 RCV004587471 RCV005029920 RCV006685944
NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)	SNV Germline	Chr18:57661272	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter	CA402550815	rs_2511652728	1 SubmittersRCV003388813
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)	SNV Germline	Chr18:57661323	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA8974225	rs_773092889	4 SubmittersRCV003474245 RCV004587500 RCV005030049 RCV006685985
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)	SNV Germline	Chr18:57654018	Conflicting classifications of pathogenicity	Benign recurrent intrahepatic cholestasis type 1 Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications	CA402545217	rs_1350129130	4 SubmittersRCV003474246 RCV003779141 RCV005030050 RCV006685986
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 2 Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA349127660	rs_2545450042	4 SubmittersRCV003465009 RCV006642988 RCV006269844 RCV006685998
NM_001374385.1(ATP8B1):c.555-1G>C	SNV Germline	Chr18:57697868	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA402545309	rs_2511779603	2 SubmittersRCV003485956 RCV006686010
NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg)	SNV Germline	Chr18:57688392	Pathogenic/Likely pathogenic	Condition: not provided Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA402537661	rs_1443328607	6 SubmittersRCV003560062 RCV005030116 RCV004690435 RCV006648229 RCV006686049
NM_001374385.1(ATP8B1):c.886C>T (p.Arg296Cys)	SNV Germline	Chr18:57695225	Pathogenic/Likely pathogenic	Condition: not provided Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts	CA402542036	rs_2511769729	5 SubmittersRCV003560063 RCV004574111 RCV004690436 RCV005030117 RCV006686050
NM_001374385.1(ATP8B1):c.1882C>T (p.Arg628Trp)	SNV Germline	Chr18:57671518	Conflicting classifications of pathogenicity	not specified Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 Condition: not provided Familial intrahepatic cholestasis	Criteria Provided Conflicting Classifications		rs_752045131	5 SubmittersRCV004587648 RCV004573956 RCV005023575 RCV006276498 RCV006686107
NM_001374385.1(ATP8B1):c.3282T>A (p.Tyr1094Ter)	SNV Germline	Chr18:57652152	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1	Criteria Provided Single Submitter			1 SubmittersRCV005026280
NM_001374385.1(ATP8B1):c.941-2A>G	SNV Germline	Chr18:57694672	Likely pathogenic	Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1	Criteria Provided Single Submitter			1 SubmittersRCV005026285
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 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005255355 RCV006456024 RCV006686231
NM_001374385.1(ATP8B1):c.2698A>G (p.Met900Val)	SNV Germline	Chr18:57661183	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	No Assertion Criteria Provided			1 SubmittersRCV005624232
NM_205834.4(LSR):c.353G>C (p.Cys118Ser)	SNV Germline	Chr19:35250558	Likely pathogenic	Progressive familial intrahepatic cholestasis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005860544
NM_001374385.1(ATP8B1):c.1473+1G>C	SNV Germline	Chr18:57685071	Pathogenic	Progressive familial intrahepatic cholestasis type 1 Familial intrahepatic cholestasis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005885647 RCV006686260

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
See cases
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA253876

rs_72549401

10 SubmittersRCV000006967 RCV001851713 RCV003472992 RCV004742222 RCV004797757 RCV005025019 RCV006451891 RCV006684477

NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)

SNV
Germline

Chr18:57695188

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder
Progressive familial intrahepatic cholestasis
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA340664

rs_111033609

9 SubmittersRCV000007684 RCV000730982 RCV004547463 RCV005055508 RCV006684485

NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)

SNV
Germline

Chr18:57661207

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
ATP8B1-related disorder
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA254129

rs_121909098

8 SubmittersRCV000007685 RCV003555959 RCV003473051 RCV004737141 RCV004700199 RCV005025025 RCV006684486

NM_001374385.1(ATP8B1):c.2097+2T>C

SNV
Germline

Chr18:57669316

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254133

rs_387906381

7 SubmittersRCV000007687 RCV000734308 RCV003473052 RCV006684488

NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)

SNV
Germline

Chr18:57669433

Pathogenic/Likely pathogenic

Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Progressive familial intrahepatic cholestasis
ATP8B1-related disorder
Benign recurrent intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA254134

rs_121909100

17 SubmittersRCV000007689 RCV000007690 RCV000723736 RCV003155019 RCV004547464 RCV005025026 RCV006684489

NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)

SNV
Germline

Chr18:57674993

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA340666

rs_121909101

8 SubmittersRCV000007692 RCV000734790 RCV004547465 RCV006684491

NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)

SNV
Germline

Chr18:57706561

Conflicting classifications of pathogenicity

Cholestasis, intrahepatic, of pregnancy, 1
not specified
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA118646

rs_34719006

14 SubmittersRCV000007694 RCV000177233 RCV000661994 RCV000661995 RCV000661996 RCV000952767 RCV004737142 RCV006684493

NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met)

SNV
Germline

Chr18:57688361

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254136

rs_121909104

4 SubmittersRCV000007696 RCV005089202 RCV006684495

NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr18:57674849

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254138

rs_121909105

7 SubmittersRCV000007697 RCV001250187 RCV003555960 RCV003473053 RCV006684496

NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)

SNV
Germline

Chr7:87431528

Conflicting classifications of pathogenicity

Cholestasis, intrahepatic, of pregnancy, 3
Low phospholipid associated cholelithiasis
not specified
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ABCB4-related disorder
Cholestasis, intrahepatic, of pregnancy, 3
Low phospholipid associated cholelithiasis
Progressive familial intrahepatic cholestasis type 3
Familial intrahepatic cholestasis
Low phospholipid associated cholelithiasis

Criteria Provided
Conflicting Classifications

CA123370

rs_45575636

16 SubmittersRCV000014696 RCV000033067 RCV000249752 RCV000662150 RCV000987909 RCV000723739 RCV004545729 RCV005042052 RCV006684510

NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr18:57669422

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Inborn genetic diseases
Condition: not provided
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA345468

rs_515726137

8 SubmittersRCV000114321 RCV000624843 RCV000726821 RCV002509220 RCV003474707 RCV006684527

NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)

SNV
Germline

Chr18:57731658

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241589

rs_137973298

4 SubmittersRCV000175808 RCV000384022 RCV000724633

NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)

SNV
Germline

Chr7:87472655

Conflicting classifications of pathogenicity

Condition: not provided
Cholestasis, intrahepatic, of pregnancy, 3
Low phospholipid associated cholelithiasis
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 3
ABCB4-related disorder
Familial intrahepatic cholestasis
Low phospholipid associated cholelithiasis

Criteria Provided
Conflicting Classifications

CA243171

rs_142794414

10 SubmittersRCV000177067 RCV000764725 RCV000987920 RCV003992213 RCV004537422 RCV006685041

NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)

SNV
Germline

Chr18:57697815

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Benign recurrent intrahepatic cholestasis type 1
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA247228

rs_56355310

12 SubmittersRCV000179906 RCV000724145 RCV001123726 RCV002485177 RCV004553016 RCV006685045

NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)

SNV
Germline

Chr7:87443683

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
not specified
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA085475

rs_863225298

3 SubmittersRCV000987915 RCV004782324 RCV006685055

NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)

SNV
Germline

Chr7:87453049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA085477

rs_863225299

4 SubmittersRCV000734366 RCV000987918 RCV006456881 RCV006685054

NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr12:100532538

Pathogenic

Cholestasis, progressive familial intrahepatic, 5
Progressive familial intrahepatic cholestasis type 1
Condition: not provided
NR1H4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6739265

rs_113090017

4 SubmittersRCV000239570 RCV000240831 RCV002515513 RCV004754356

NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)

SNV
Germline

Chr18:57691850

Conflicting classifications of pathogenicity

not specified
Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974642

rs_34315917

10 SubmittersRCV000246161 RCV000344311 RCV000971960 RCV006685081

NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)

SNV
Germline

Chr7:87412017

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis type 3
See cases
Severe early-childhood-onset retinal dystrophy
ABCB4-related disorder
Low phospholipid associated cholelithiasis
Familial intrahepatic cholestasis
Low phospholipid associated cholelithiasis

Criteria Provided
Conflicting Classifications

CA4326928

rs_61730509

16 SubmittersRCV000322710 RCV000413855 RCV000987905 RCV001164952 RCV001164953 RCV002252078 RCV003989517 RCV004529459 RCV006704658 RCV006685100

NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)

SNV
Germline

Chr18:57695198

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 1
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974703

rs_150860808

12 SubmittersRCV000263650 RCV000766301 RCV001122637 RCV004549616 RCV006685140

NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)

SNV
Germline

Chr7:87440230

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 3
ABCB4-related disorder
Low phospholipid associated cholelithiasis
Progressive familial intrahepatic cholestasis type 3
Cholestasis, intrahepatic, of pregnancy, 3
Low phospholipid associated cholelithiasis
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA4327275

rs_375315619

18 SubmittersRCV000427203 RCV000987913 RCV001003941 RCV002298568 RCV003333058 RCV004537625 RCV005044554 RCV006685150

NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)

SNV
Germline

Chr18:57648590

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8973949

rs_778786114

3 SubmittersRCV000328034 RCV003765895 RCV004549724

NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln)

SNV
Germline

Chr18:57661383

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Inborn genetic diseases
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974236

rs_568134011

4 SubmittersRCV000307433 RCV003574750 RCV003243083 RCV006685152

NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)

SNV
Germline

Chr18:57691955

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
not specified
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8974657

rs_193204986

5 SubmittersRCV000402782 RCV000733110 RCV003114488 RCV004549727

NM_001374385.1(ATP8B1):c.-51C>T

SNV
Germline

Chr18:57803023

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
not specified

Criteria Provided
Conflicting Classifications

CA10641895

rs_150844949

2 SubmittersRCV000380376 RCV000413994

NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=)

SNV
Germline

Chr18:57654019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10651147

rs_776385207

3 SubmittersRCV000300660 RCV000440127 RCV003556340

NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)

SNV
Germline

Chr18:57674942

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8974493

rs_35140429

4 SubmittersRCV000283339 RCV000730370 RCV004549726

NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)

SNV
Germline

Chr18:57648548

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
not specified
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8973931

rs_754912569

4 SubmittersRCV000270593 RCV000442154 RCV003727683 RCV004549723

NM_001374385.1(ATP8B1):c.1429+14G>A

SNV
Germline

Chr18:57688285

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10651960

rs_886054012

2 SubmittersRCV000287094 RCV003765897

NM_001374385.1(ATP8B1):c.782-5A>T

SNV
Germline

Chr18:57695334

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10651961

rs_886054013

2 SubmittersRCV000404765 RCV003574751

NM_001374385.1(ATP8B1):c.394-7C>T

SNV
Germline

Chr18:57701320

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8974856

rs_370252509

2 SubmittersRCV000333177 RCV003736721

NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)

SNV
Germline

Chr18:57694597

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 1
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974681

rs_145750280

7 SubmittersRCV000441391 RCV000726888 RCV001122636 RCV004551466 RCV006685183

NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)

SNV
Germline

Chr18:57688442

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive familial intrahepatic cholestasis type 1
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974608

rs_34018205

9 SubmittersRCV000442917 RCV000767080 RCV001126304 RCV004551446 RCV006685177

NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)

SNV
Germline

Chr2:168971863

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1951531

rs_753994013

6 SubmittersRCV000597368 RCV003459468 RCV004742520 RCV005898672 RCV006685213 RCV006640786

NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)

SNV
Germline

Chr18:57706557

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
not specified
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974918

rs_148715351

6 SubmittersRCV000593626 RCV001126391 RCV002282258 RCV003989569 RCV006685231

NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)

SNV
Germline

Chr18:57685107

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Conflicting Classifications

CA8974570

rs_142231389

3 SubmittersRCV000591168 RCV001126303

NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)

SNV
Germline

Chr18:57674854

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
ATP8B1-related disorder
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA402560651

rs_1202682161

7 SubmittersRCV000593026 RCV003471966 RCV004553342 RCV003485613 RCV006685246

NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)

SNV
Germline

Chr7:87422220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4327083

rs_143456575

3 SubmittersRCV000728122 RCV000987907 RCV001731911

NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)

SNV
Germline

Chr18:57674899

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8974485

rs_35238397

4 SubmittersRCV000728140 RCV001125341 RCV003165956

NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)

SNV
Germline

Chr18:57655403

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Inborn genetic diseases
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Conflicting Classifications

CA8974172

rs_200648620

5 SubmittersRCV000729794 RCV001122544 RCV002535133 RCV004720279

NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)

SNV
Germline

Chr18:57655271

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8974145

rs_765889649

8 SubmittersRCV000730680 RCV003485636 RCV006685289

NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)

SNV
Germline

Chr7:87453005

Pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 3
Low phospholipid associated cholelithiasis
Progressive familial intrahepatic cholestasis type 3
Low phospholipid associated cholelithiasis
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis type 3
Cholestasis, intrahepatic, of pregnancy, 3
ABCB4-related disorder
Familial intrahepatic cholestasis
Low phospholipid associated cholelithiasis

Criteria Provided
Multiple Submitters
No Conflicts

CA4327533

rs_377160065

9 SubmittersRCV000732592 RCV000987917 RCV001003563 RCV003447558 RCV005046999 RCV005622018 RCV004535856 RCV006685302

NM_000443.4(ABCB4):c.2784-12T>C

SNV
Germline

Chr7:87412045

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Progressive familial intrahepatic cholestasis
ABCB4-Related Intrahepatic Cholestasis
Low phospholipid associated cholelithiasis
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 3
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA4326929

rs_201498350

11 SubmittersRCV000987906 RCV002286794 RCV002282417 RCV003985096 RCV005047161 RCV005253663 RCV006685345

NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)

SNV
Germline

Chr7:87431552

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 3
not specified
Condition: not provided
Low phospholipid associated cholelithiasis
Cholestasis, intrahepatic, of pregnancy, 3
Progressive familial intrahepatic cholestasis type 3
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA4327213

rs_760153272

6 SubmittersRCV000987910 RCV003158272 RCV004689944 RCV005092973 RCV005047162 RCV006685346

NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr7:87439684

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Progressive familial intrahepatic cholestasis type 3
Familial intrahepatic cholestasis
Low phospholipid associated cholelithiasis

Criteria Provided
Multiple Submitters
No Conflicts

CA368038050

rs_1458423947

4 SubmittersRCV000987911 RCV003769298 RCV003485670 RCV006685347

NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)

SNV
Unknown

Chr7:87443353

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Single Submitter

CA368043656

rs_1584747270

1 SubmittersRCV000987914

NM_000443.4(ABCB4):c.1119+5G>A

SNV
Unknown

Chr7:87444857

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Single Submitter

CA915945329

rs_1584750653

1 SubmittersRCV000987916

NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)

SNV
Unknown

Chr18:57652040

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Single Submitter

CA402541772

rs_1599066459

1 SubmittersRCV000990110

NM_001374385.1(ATP8B1):c.3015+1G>T

SNV
Unknown

Chr18:57653991

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Single Submitter

CA402545088

rs_1599069873

1 SubmittersRCV000990111

NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)

SNV
Germline

Chr18:57667126

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA402554701

rs_1057524081

3 SubmittersRCV000991407 RCV001254601 RCV006685349

NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)

SNV
Germline

Chr18:57661281

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
not specified
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974218

rs_745546266

4 SubmittersRCV001091653 RCV003339472 RCV004782645 RCV006685380

NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=)

SNV
Germline

Chr18:57648575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8973944

rs_375842507

3 SubmittersRCV001125233 RCV003558690 RCV006685383

NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)

SNV
Germline

Chr18:57652116

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8974030

rs_140005450

3 SubmittersRCV001126210 RCV003769211 RCV004548008

NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=)

SNV
Germline

Chr18:57655362

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8974168

rs_758180192

3 SubmittersRCV001122543 RCV003769188 RCV006685381

NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=)

SNV
Germline

Chr18:57691821

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA504009400

rs_1179570288

2 SubmittersRCV001128355 RCV003769229

NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=)

SNV
Germline

Chr18:57691926

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8974653

rs_35969033

3 SubmittersRCV001128358 RCV003769230 RCV006685384

NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)

SNV
Germline

Chr18:57706562

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8974920

rs_201150730

2 SubmittersRCV001126392 RCV003736992

NM_001374385.1(ATP8B1):c.3401-13A>G

SNV
Germline

Chr18:57650510

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8974016

rs_747437391

2 SubmittersRCV001126209 RCV003769210

NM_001374385.1(ATP8B1):c.1819+10C>T

SNV
Germline

Chr18:57674824

Conflicting classifications of pathogenicity

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
ATP8B1-related disorder

Criteria Provided
Conflicting Classifications

CA8974468

rs_767885426

3 SubmittersRCV001125339 RCV003565461 RCV004548002

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

SNV
Germline

Chr2:168972025

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349116096

rs_188824058

4 SubmittersRCV001383194 RCV001831384 RCV006453668 RCV006685423

NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=)

SNV
Germline

Chr18:57694582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA300861361

rs_765716200

4 SubmittersRCV001544517 RCV003771560 RCV006685435

NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)

SNV
Germline

Chr18:57652705

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8974086

rs_781213892

5 SubmittersRCV001733627 RCV002508811 RCV003326001 RCV004584921 RCV006685474

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
Familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA59881211

rs_979738325

5 SubmittersRCV001992798 RCV003464278 RCV005253950 RCV006685509 RCV005924327

NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)

SNV
Germline

Chr18:57655304

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
ATP8B1-related disorder
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA8974153

rs_374340059

5 SubmittersRCV002272580 RCV003096128 RCV003475320 RCV004548254 RCV006685882

NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)

SNV
Germline

Chr18:57684093

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA8974528

rs_770257115

5 SubmittersRCV002272668 RCV003560909 RCV004572111 RCV005025750 RCV006685883

NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)

SNV
Germline

Chr18:57674855

Conflicting classifications of pathogenicity

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA402560653

rs_780186596

7 SubmittersRCV003143672 RCV003228142 RCV003475534 RCV004587471 RCV005029920 RCV006685944

NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)

SNV
Germline

Chr18:57661272

Likely pathogenic

Progressive familial intrahepatic cholestasis type 1

Criteria Provided
Single Submitter

CA402550815

rs_2511652728

1 SubmittersRCV003388813

NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)

SNV
Germline

Chr18:57661323

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA8974225

rs_773092889

4 SubmittersRCV003474245 RCV004587500 RCV005030049 RCV006685985

NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)

SNV
Germline

Chr18:57654018

Conflicting classifications of pathogenicity

Benign recurrent intrahepatic cholestasis type 1
Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

CA402545217

rs_1350129130

4 SubmittersRCV003474246 RCV003779141 RCV005030050 RCV006685986

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 2
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA349127660

rs_2545450042

4 SubmittersRCV003465009 RCV006642988 RCV006269844 RCV006685998

NM_001374385.1(ATP8B1):c.555-1G>C

SNV
Germline

Chr18:57697868

Pathogenic

Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA402545309

rs_2511779603

2 SubmittersRCV003485956 RCV006686010

NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg)

SNV
Germline

Chr18:57688392

Pathogenic/Likely pathogenic

Condition: not provided
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA402537661

rs_1443328607

6 SubmittersRCV003560062 RCV005030116 RCV004690435 RCV006648229 RCV006686049

NM_001374385.1(ATP8B1):c.886C>T (p.Arg296Cys)

SNV
Germline

Chr18:57695225

Pathogenic/Likely pathogenic

Condition: not provided
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Familial intrahepatic cholestasis

Criteria Provided
Multiple Submitters
No Conflicts

CA402542036

rs_2511769729

5 SubmittersRCV003560063 RCV004574111 RCV004690436 RCV005030117 RCV006686050

NM_001374385.1(ATP8B1):c.1882C>T (p.Arg628Trp)

SNV
Germline

Chr18:57671518

Conflicting classifications of pathogenicity

not specified
Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1
Condition: not provided
Familial intrahepatic cholestasis

Criteria Provided
Conflicting Classifications

rs_752045131

5 SubmittersRCV004587648 RCV004573956 RCV005023575 RCV006276498 RCV006686107

NM_001374385.1(ATP8B1):c.3282T>A (p.Tyr1094Ter)

SNV
Germline

Chr18:57652152

Likely pathogenic

Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1
Cholestasis, intrahepatic, of pregnancy, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026280

NM_001374385.1(ATP8B1):c.941-2A>G

SNV
Germline