| - GRCh37:
- Chr7:87038551
- GRCh38:
- Chr7:87409235
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:87031515
- GRCh38:
- Chr7:87402199
| ABCB4 | Q1199P, Q1253P, Q1246P | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:87073058
- GRCh38:
- Chr7:87443742
| ABCB4 | G384V | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jul 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87037412
- GRCh38:
- Chr7:87408096
| ABCB4 | G1027R, G1074R | Progressive familial intrahepatic cholestasis type 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:87101911
- GRCh38:
- Chr7:87472595
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87053233
- GRCh38:
- Chr7:87423917
| ABCB4 | E734* | Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87041257
- GRCh38:
- Chr7:87411941
| ABCB4 | G959A | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87042934
- GRCh38:
- Chr7:87413618
| ABCB4 | R928G | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87072999
- GRCh38:
- Chr7:87443683
| ABCB4 | P404S | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87069758
- GRCh38:
- Chr7:87440442
| ABCB4 | | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87053150
- GRCh38:
- Chr7:87423834
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, not provided, Progressive familial intrahepatic cholestasis type 3
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87073075
- GRCh38:
- Chr7:87443759
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Oct 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87043024
- GRCh38:
- Chr7:87413708
| ABCB4 | E898K | Progressive familial intrahepatic cholestasis type 3 | Pathogenic/Likely pathogenic
(May 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87060830
- GRCh38:
- Chr7:87431514
| ABCB4 | R595* | Familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3, not provided
| Pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87080950
- GRCh38:
- Chr7:87451634
| ABCB4 | V233I | Cholestasis, intrahepatic, of pregnancy, 3, not provided, Progressive familial intrahepatic cholestasis type 3
| Uncertain significance
(Aug 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87046719
- GRCh38:
- Chr7:87417403
| ABCB4 | V864A | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87032496
- GRCh38:
- Chr7:87403180
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87031557
- GRCh38:
- Chr7:87402241
| ABCB4 | R1232H, R1239H, R1185H | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87079312
- GRCh38:
- Chr7:87449996
| ABCB4 | F269L | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87076347
- GRCh38:
- Chr7:87447031
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87074242
- GRCh38:
- Chr7:87444926
| ABCB4 | P352L | Cholestasis, intrahepatic, of pregnancy, 3, not specified, not provided,
Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87037488
- GRCh38:
- Chr7:87408172
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87101963
- GRCh38:
- Chr7:87472647
| ABCB4 | V37L | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87092213
- GRCh38:
- Chr7:87462897
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87072714
- GRCh38:
- Chr7:87443398
| ABCB4 | A426V | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87072710
- GRCh38:
- Chr7:87443394
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, not provided, Progressive familial intrahepatic cholestasis type 3
| Conflicting interpretations of pathogenicity
(Aug 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87051511
- GRCh38:
- Chr7:87422195
| ABCB4 | Q748E | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87049384
- GRCh38:
- Chr7:87420068
| ABCB4 | T775M | Cholestasis, intrahepatic, of pregnancy, 3, not specified, not provided,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87035782
- GRCh38:
- Chr7:87406466
| ABCB4 | L1110R, L1056R, L1103R | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87049368
- GRCh38:
- Chr7:87420052
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87047846
- GRCh38:
- Chr7:87418530
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87046720
- GRCh38:
- Chr7:87417404
| ABCB4 | V864F | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87035681
- GRCh38:
- Chr7:87406365
| ABCB4 | R1090W, R1137W, R1144W | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87032580
- GRCh38:
- Chr7:87403264
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87032531
- GRCh38:
- Chr7:87403215
| ABCB4 | I1138V, I1185V, I1192V | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87082285
- GRCh38:
- Chr7:87452969
| ABCB4 | T171A | Cholestasis, intrahepatic, of pregnancy, 3, ABCB4-related condition, Progressive familial intrahepatic cholestasis type 3
| Uncertain significance
(Nov 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87074281-87074282
- GRCh38:
- Chr7:87444965-87444966
| ABCB4 | S339fs | ABCB4-related condition, Progressive familial intrahepatic cholestasis type 3, not provided
| Conflicting interpretations of pathogenicity
(Feb 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87060868
- GRCh38:
- Chr7:87431552
| ABCB4 | R582Q | Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 1 | Pathogenic/Likely pathogenic
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87038556
- GRCh38:
- Chr7:87409240
| ABCB4 | K979fs, K1026fs | Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87035688
- GRCh38:
- Chr7:87406372
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3, not provided, Cholestasis, intrahepatic, of pregnancy, 3
| Conflicting interpretations of pathogenicity
(Jun 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87035794
- GRCh38:
- Chr7:87406478
| ABCB4 | E1099G, E1106G, E1052G | Progressive familial intrahepatic cholestasis type 3, not provided, Progressive familial intrahepatic cholestasis type 3,
Low phospholipid associated cholelithiasis, Cholestasis, intrahepatic, of pregnancy, 3, Cholestasis, intrahepatic, of pregnancy, 3
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87069606
- GRCh38:
- Chr7:87440290
| ABCB4 | I490T | Progressive familial intrahepatic cholestasis type 3, not provided | Uncertain significance
(Apr 30, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87069697
- GRCh38:
- Chr7:87440381
| ABCB4 | I460F | Progressive familial intrahepatic cholestasis type 3, not provided | Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87053222
- GRCh38:
- Chr7:87423906
| ABCB4 | | not provided, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87056178
- GRCh38:
- Chr7:87426862
| ABCB4 | T651N | not provided, Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3
| Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87035614
- GRCh38:
- Chr7:87406298
| ABCB4 | T1166M, T1159M, T1112M | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3, not provided
| Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87037496
- GRCh38:
- Chr7:87408180
| ABCB4 | R1046*, R999* | not provided, Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis
| Pathogenic
(Aug 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:169801231
- GRCh38:
- Chr2:168944721
| ABCB11 | R832C | not provided, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 2,
Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2 | Pathogenic/Likely pathogenic
(Dec 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87079338
- GRCh38:
- Chr7:87450022
| ABCB4 | L260P | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3, not provided
| Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87073065
- GRCh38:
- Chr7:87443749
| ABCB4 | E382* | not provided | Pathogenic
(Nov 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87032541
- GRCh38:
- Chr7:87403225
| ABCB4 | | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3, not specified
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87049383
- GRCh38:
- Chr7:87420067
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3, not specified,
not provided | Benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87053289
- GRCh38:
- Chr7:87423973
| ABCB4 | T715I | Progressive familial intrahepatic cholestasis type 3, ABCB4-related condition, Progressive familial intrahepatic cholestasis type 1,
Cholestasis, intrahepatic, of pregnancy, 3, not provided | Uncertain significance
(Apr 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87038681
- GRCh38:
- Chr7:87409365
| ABCB4 | | not provided, Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3,
not specified | Benign/Likely benign
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87092143
- GRCh38:
- Chr7:87462827
| ABCB4 | L73V | Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis, Cholestasis, intrahepatic, of pregnancy, 3,
Cholestasis, intrahepatic, of pregnancy, 3, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87082270
- GRCh38:
- Chr7:87452954
| ABCB4 | R176W | not provided, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis,
Cholestasis, intrahepatic, of pregnancy, 3 | Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87104961
- GRCh38:
- Chr7:87475645
| ABCB4, LOC129998757 | | Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3, Low phospholipid associated cholelithiasis,
Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87104791
- GRCh38:
- Chr7:87475475
| ABCB4, LOC129998756 | | Progressive familial intrahepatic cholestasis type 3, not specified, Cholestasis, intrahepatic, of pregnancy, 3
| Benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87080951
- GRCh38:
- Chr7:87451635
| ABCB4 | | not provided, not specified, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87076428
- GRCh38:
- Chr7:87447112
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87060829
- GRCh38:
- Chr7:87431513
| ABCB4 | R595Q | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Uncertain significance
(May 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87060755
- GRCh38:
- Chr7:87431439
| ABCB4 | K620E | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87056192
- GRCh38:
- Chr7:87426876
| ABCB4 | | not provided, not specified, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Benign
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87056160
- GRCh38:
- Chr7:87426844
| ABCB4 | G657V | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87056148
- GRCh38:
- Chr7:87426832
| ABCB4 | R661H | Inborn genetic diseases, Cholestasis, intrahepatic, of pregnancy, 3, not provided,
Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87056083
- GRCh38:
- Chr7:87426767
| ABCB4 | V683M | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87056075
- GRCh38:
- Chr7:87426759
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87053296
- GRCh38:
- Chr7:87423980
| ABCB4 | V713M | not provided, not specified, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87046775
- GRCh38:
- Chr7:87417459
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87037401
- GRCh38:
- Chr7:87408085
| ABCB4 | | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:87035805
- GRCh38:
- Chr7:87406489
| ABCB4 | | not provided, not specified, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87035718
- GRCh38:
- Chr7:87406402
| ABCB4 | | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Conflicting interpretations of pathogenicity
(May 30, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87069546
- GRCh38:
- Chr7:87440230
| ABCB4 | N510S | not provided, Progressive familial intrahepatic cholestasis type 1, ABCB4-related condition,
Progressive familial intrahepatic cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3
| Conflicting interpretations of pathogenicity
(Aug 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87038596
- GRCh38:
- Chr7:87409280
| ABCB4 | | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87041333
- GRCh38:
- Chr7:87412017
| ABCB4 | A934T | Progressive familial intrahepatic cholestasis type 1, ABCB4-related condition, not provided,
Cholestasis, intrahepatic, of pregnancy, 3, See cases, not specified,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(Oct 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87072677
- GRCh38:
- Chr7:87443361
| ABCB4 | | not provided, Cholestasis, intrahepatic, of pregnancy, 3, not specified,
Progressive familial intrahepatic cholestasis type 3 | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87079406
- GRCh38:
- Chr7:87450090
| ABCB4 | | not provided, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3,
not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87082337
- GRCh38:
- Chr7:87453021
| ABCB4 | | not specified, not provided, Progressive familial intrahepatic cholestasis type 3,
Cholestasis, intrahepatic, of pregnancy, 3 | Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87032613
- GRCh38:
- Chr7:87403297
| ABCB4 | | not provided, not specified, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87053206
- GRCh38:
- Chr7:87423890
| ABCB4 | | not specified, not provided, Progressive familial intrahepatic cholestasis type 3,
Cholestasis, intrahepatic, of pregnancy, 3 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87056176
- GRCh38:
- Chr7:87426860
| ABCB4 | R652G | not provided, Progressive familial intrahepatic cholestasis type 3, not specified,
Cholestasis, intrahepatic, of pregnancy, 3 | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87060714
- GRCh38:
- Chr7:87431398
| ABCB4 | | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87092185
- GRCh38:
- Chr7:87462869
| ABCB4 | | not provided, not specified, Progressive familial intrahepatic cholestasis type 3,
Cholestasis, intrahepatic, of pregnancy, 3 | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87092213
- GRCh38:
- Chr7:87462897
| ABCB4 | | not specified, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3,
not provided | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87104782
- GRCh38:
- Chr7:87475466
| ABCB4, LOC129998756 | | not specified, Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic, of pregnancy, 3
| Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87082365
- Chr7:87072999
- GRCh38:
- Chr7:87453049
- Chr7:87443683
| ABCB4, ABCB4 | R144Q, P404A | Progressive familial intrahepatic cholestasis type 3 | Likely pathogenic
(Jul 25, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:87082292
- GRCh38:
- Chr7:87452976
| ABCB4 | | not specified, Cholestasis, intrahepatic, of pregnancy, 3, not provided,
Progressive familial intrahepatic cholestasis type 3 | Benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87101971
- GRCh38:
- Chr7:87472655
| ABCB4 | T34M | ABCB4-related condition, not provided, Progressive familial intrahepatic cholestasis type 3,
Low phospholipid associated cholelithiasis, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 1
| Conflicting interpretations of pathogenicity
(Aug 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87049345
- GRCh38:
- Chr7:87420029
| ABCB4 | R788Q | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Benign/Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87053256
- GRCh38:
- Chr7:87423940
| ABCB4 | P726L | not provided, Low phospholipid associated cholelithiasis, Progressive familial intrahepatic cholestasis type 3,
Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Pathogenic/Likely pathogenic
(Jul 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87069130
- GRCh38:
- Chr7:87439814
| ABCB4 | E528D | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87041227
- GRCh38:
- Chr7:87411911
| ABCB4 | R969H | Cholestasis, intrahepatic, of pregnancy, 3, not provided, Progressive familial intrahepatic cholestasis type 3
| Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87060844
- GRCh38:
- Chr7:87431528
| ABCB4 | R590Q | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Low phospholipid associated cholelithiasis, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 1
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87073002
- GRCh38:
- Chr7:87443686
| ABCB4 | Y403H | Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(Jan 6, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr7:87053263-87053264
- GRCh38:
- Chr7:87423947-87423948
| ABCB4 | L724fs | Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(Jan 6, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr7:87082273
- GRCh38:
- Chr7:87452957
| ABCB4 | T175A | not specified, not provided, Cholestasis, intrahepatic, of pregnancy, 3,
Progressive familial intrahepatic cholestasis type 3 | Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87076396
- GRCh38:
- Chr7:87447080
| ABCB4 | S320F | ABCB4-related condition, Progressive familial intrahepatic cholestasis, not provided,
Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis | Conflicting interpretations of pathogenicity
(Aug 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:87069002
- GRCh38:
- Chr7:87439686
| ABCB4 | V571fs | Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(Jan 16, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr7:87041264
- GRCh38:
- Chr7:87411948
| ABCB4 | R957* | not provided, Low phospholipid associated cholelithiasis | Pathogenic/Likely pathogenic
(Feb 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:87082396-87082402
- GRCh38:
- Chr7:87453080-87453086
| ABCB4 | Y132fs | Progressive familial intrahepatic cholestasis type 3 | Pathogenic
(Oct 18, 2017) | no assertion criteria provided |