| - GRCh37:
- Chr15:91551139-91551141
- GRCh38:
- Chr15:91007909-91007911
| VPS33B | L126del, L153del, L62del | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91550259
- GRCh38:
- Chr15:91007029
| VPS33B | W116*, W180*, W207* | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:91565396
- GRCh38:
- Chr15:91022166
| VPS33B | Y28* | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543782
- GRCh38:
- Chr15:91000552
| VPS33B | R416*, R480*, R507* | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543185
- GRCh38:
- Chr15:90999955
| VPS33B | W443*, W507*, W534* | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91543791-91543792
- GRCh38:
- Chr15:91000561-91000562
| VPS33B | K413fs, K477fs, K504fs | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565413
- GRCh38:
- Chr15:91022183
| VPS33B | R23* | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91551096
- GRCh38:
- Chr15:91007866
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:48779271
- GRCh38:
- Chr15:48487074
| FBN1 | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:48788294
- GRCh38:
- Chr15:48496097
| FBN1 | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:91557626
- GRCh38:
- Chr15:91014396
| VPS33B | R2*, R66*, R93* | not provided | Pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91550730
- GRCh38:
- Chr15:91007500
| VPS33B | P164R, P100R, P191R | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Oct 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565436
- GRCh38:
- Chr15:91022206
| VPS33B | F15S | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Aug 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542279
- GRCh38:
- Chr15:90999049
| VPS33B | R567G, R594G, R503G | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1, not specified
| Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91565754
- GRCh38:
- Chr15:91022524
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91549226
- GRCh38:
- Chr15:91005996
| VPS33B | R215W, R279W, R306W | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91548290
- GRCh38:
- Chr15:91005060
| VPS33B | R389W, R298W, R362W | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565599
- GRCh38:
- Chr15:91022369
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565486
- GRCh38:
- Chr15:91022256
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91543800
- GRCh38:
- Chr15:91000570
| VPS33B | Y410H, Y501H, Y474H | Arthrogryposis, renal dysfunction, and cholestasis 1, Inborn genetic diseases | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91550806
- GRCh38:
- Chr15:91007576
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91550794
- GRCh38:
- Chr15:91007564
| VPS33B | Q170K, Q143K, Q79K | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542962
- GRCh38:
- Chr15:90999732
| VPS33B | L482F, L546F, L573F | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542298
- GRCh38:
- Chr15:90999068
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542195
- GRCh38:
- Chr15:90998965
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542092
- GRCh38:
- Chr15:90998862
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91550290
- GRCh38:
- Chr15:91007060
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Benign/Likely benign
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91549254
- GRCh38:
- Chr15:91006024
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91541944
- GRCh38:
- Chr15:90998714
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91541859
- GRCh38:
- Chr15:90998629
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91548289
- GRCh38:
- Chr15:91005059
| VPS33B | R362Q, R298Q, R389Q | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Benign/Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91548167
- GRCh38:
- Chr15:91004937
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Conflicting interpretations of pathogenicity
(Jun 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91542955
- GRCh38:
- Chr15:90999725
| VPS33B | C576R, C485R, C549R | Cholestasis, progressive familial intrahepatic, 12, Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Aug 18, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:77900184
- GRCh38:
- Chr14:77433841
| VIPAS39 | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:77920426
- GRCh38:
- Chr14:77454083
| VIPAS39 | D7fs | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91550743-91550744
- GRCh38:
- Chr15:91007513-91007514
| VPS33B | Y96fs, Y160fs, Y187fs | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:91548140
- GRCh38:
- Chr15:91004910
| VPS33B | R398C, R371C, R307C | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91561061
- GRCh38:
- Chr15:91017831
| VPS33B | R51* | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Mar 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91557041
- GRCh38:
- Chr15:91013811
| VPS33B | P90fs, P26fs, P117fs | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Mar 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91551100
- GRCh38:
- Chr15:91007870
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely pathogenic
(Sep 18, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:91550218
- GRCh38:
- Chr15:91006988
| VPS33B | R221Q, R194Q, R130Q | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91557672
- GRCh38:
- Chr15:91014442
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Conflicting interpretations of pathogenicity
(Apr 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91548600
- GRCh38:
- Chr15:91005370
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91560188
- GRCh38:
- Chr15:91016958
| VPS33B | | not provided | Pathogenic
(Feb 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565405
- GRCh38:
- Chr15:91022175
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91542996
- GRCh38:
- Chr15:90999766
| VPS33B | S562N, S471N, S535N | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543803
- GRCh38:
- Chr15:91000573
| VPS33B | E500*, E409*, E473* | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Dec 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565814
- GRCh38:
- Chr15:91022584
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565804
- GRCh38:
- Chr15:91022574
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Benign
(Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91565778
- GRCh38:
- Chr15:91022548
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565750
- GRCh38:
- Chr15:91022520
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565748
- GRCh38:
- Chr15:91022518
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565616
- GRCh38:
- Chr15:91022386
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91565610
- GRCh38:
- Chr15:91022380
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91553029
- GRCh38:
- Chr15:91009799
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91553071
- GRCh38:
- Chr15:91009841
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91551208
- GRCh38:
- Chr15:91007978
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91550271
- GRCh38:
- Chr15:91007041
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91550200
- GRCh38:
- Chr15:91006970
| VPS33B | H227R, H200R, H136R | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91549274
- GRCh38:
- Chr15:91006044
| VPS33B | R290W, R263W, R199W | Arthrogryposis, renal dysfunction, and cholestasis 1, Inborn genetic diseases | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91549013
- GRCh38:
- Chr15:91005783
| VPS33B | R314H, R223H, R287H | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91548307
- GRCh38:
- Chr15:91005077
| VPS33B | I383T, I356T, I292T | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1, not specified
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91548280
- GRCh38:
- Chr15:91005050
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91545411
- GRCh38:
- Chr15:91002181
| VPS33B | S425N, S334N, S398N | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91545353
- GRCh38:
- Chr15:91002123
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not provided | Benign/Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543196
- GRCh38:
- Chr15:90999966
| VPS33B | R531W, R440W, R504W | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542080
- GRCh38:
- Chr15:90998850
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91542050
- GRCh38:
- Chr15:90998820
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91541943
- GRCh38:
- Chr15:90998713
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91549010
- GRCh38:
- Chr15:91005780
| VPS33B | R315Q, R224Q, R288Q | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:91550232
- GRCh38:
- Chr15:91007002
| VPS33B | | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1, not specified
| Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91550705
- GRCh38:
- Chr15:91007475
| VPS33B | | not specified, not provided, Arthrogryposis, renal dysfunction, and cholestasis 1
| Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543010
- GRCh38:
- Chr15:90999780
| VPS33B | | not specified, Arthrogryposis, renal dysfunction, and cholestasis 1, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543131
- GRCh38:
- Chr15:90999901
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not specified, not provided
| Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91543761
- GRCh38:
- Chr15:91000531
| VPS33B | G514S, G423S, G487S | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1, not specified
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91561061
- GRCh38:
- Chr15:91017831
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not specified, not provided
| Benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91548601
- GRCh38:
- Chr15:91005371
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1, not specified, not provided
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91548325
- GRCh38:
- Chr15:91005095
| VPS33B | R377P, R286P, R350P | Arthrogryposis, renal dysfunction, and cholestasis 1 | association
(Apr 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr15:91557034
- GRCh38:
- Chr15:91013804
| VPS33B | | not specified, not provided, Arthrogryposis, renal dysfunction, and cholestasis 1
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91542980
- GRCh38:
- Chr15:90999750
| VPS33B | | not specified, not provided, Arthrogryposis, renal dysfunction, and cholestasis 1
| Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91561076
- GRCh38:
- Chr15:91017846
| VPS33B | M46L | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91561079
- GRCh38:
- Chr15:91017849
| VPS33B | L45I | not provided, Arthrogryposis, renal dysfunction, and cholestasis 1 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91565487
- GRCh38:
- Chr15:91022257
| VPS33B | | not specified, not provided, Arthrogryposis, renal dysfunction, and cholestasis 1
| Benign/Likely benign
(Jan 16, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91546325-91546326
- GRCh38:
- Chr15:91003095-91003096
| VPS33B | Q394fs, Q421fs, Q330fs | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Dec 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:91548102
- GRCh38:
- Chr15:91004872
| VPS33B | | Inborn genetic diseases, not provided, Arthrogryposis, renal dysfunction, and cholestasis 1
| Pathogenic/Likely pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:91557257-91558240
- GRCh38:
- Chr15:91014027-91015010
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Dec 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:91550179
- GRCh38:
- Chr15:91006949
| VPS33B | | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Dec 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr15:91565391
- GRCh38:
- Chr15:91022161
| VPS33B | L30P | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Dec 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:91545373
- GRCh38:
- Chr15:91002143
| VPS33B | R438*, R347*, R411* | not provided | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91543193
- GRCh38:
- Chr15:90999963
| VPS33B | R532*, R441*, R505* | Arthrogryposis, renal dysfunction, and cholestasis 1 | Pathogenic
(Apr 1, 2004) | no assertion criteria provided |