| - GRCh37:
- Chr2:234669658
- GRCh38:
- Chr2:233761012
| UGT1A3, UGT1A5, UGT1A6, UGT1A, UGT1A1, UGT1A10, UGT1A4, UGT1A7, UGT1A8, UGT1A9 | V242fs | Crigler-Najjar syndrome type 1, Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II,
Gilbert syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:234677086
- GRCh38:
- Chr2:233768440
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | Gilbert syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234668932-234668947
- GRCh38:
- Chr2:233760286-233760301
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | M1fs | Gilbert syndrome | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234677051
- GRCh38:
- Chr2:233768405
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | E156*, E421*, E423*, E424*, E425* | Gilbert syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:234675732
- GRCh38:
- Chr2:233767086
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | S303F, S305F, S306F, S307F, S38F | Gilbert syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:234669652
- GRCh38:
- Chr2:233761006
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | R240K | Gilbert syndrome | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:234669424-234669425
- GRCh38:
- Chr2:233760778-233760779
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | L166fs | Gilbert syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:234669133
- GRCh38:
- Chr2:233760487
| UGT1A5, UGT1A6, UGT1A9, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A8 | Y67F | Gilbert syndrome | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:234676520
- GRCh38:
- Chr2:233767874
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | R338Q, R341Q, R340Q, R342Q, R73Q | not provided | Uncertain significance
(Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234669619
- GRCh38:
- Chr2:233760973
| UGT1A8, UGT1A5, UGT1A, UGT1A3, UGT1A1, UGT1A7, UGT1A6, UGT1A4, UGT1A9, UGT1A10 | P229L | Crigler-Najjar syndrome type 1, Gilbert syndrome, Lucey-Driscoll syndrome,
Crigler-Najjar syndrome, type II, Bilirubin, serum level of, quantitative trait locus 1, not provided
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669115
- GRCh38:
- Chr2:233760469
| UGT1A, UGT1A1, UGT1A6, UGT1A7, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A8, UGT1A9 | A61G | not provided | Uncertain significance
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234676573
- GRCh38:
- Chr2:233767927
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | D356N, D358N, D359N, D360N, D91N | Gilbert syndrome, not provided | Uncertain significance
(Jan 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234677000
- GRCh38:
- Chr2:233768354
| UGT1A6, UGT1A, UGT1A1, UGT1A10, UGT1A7, UGT1A8, UGT1A4, UGT1A5, UGT1A9, UGT1A3 | K139fs, K404fs, K406fs, K407fs, K408fs | not provided, Gilbert syndrome, Crigler-Najjar syndrome, type II
| Pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234681624
- GRCh38:
- Chr2:233772978
| UGT1A4, UGT1A, UGT1A8, UGT1A3, UGT1A1, UGT1A7, UGT1A6, UGT1A9, UGT1A5, UGT1A10 | | Lucey-Driscoll syndrome, Gilbert syndrome, Crigler-Najjar syndrome
| Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234681289
- GRCh38:
- Chr2:233772643
| UGT1A8, UGT1A9, UGT1A4, UGT1A7, UGT1A3, UGT1A6, UGT1A, UGT1A5, UGT1A10, UGT1A1 | | Gilbert syndrome, Lucey-Driscoll syndrome, Crigler-Najjar syndrome
| Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681151
- GRCh38:
- Chr2:233772505
| UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A9, UGT1A8, UGT1A6, UGT1A1, UGT1A, UGT1A7 | K515N, K516N, K248N, K513N, K517N | Lucey-Driscoll syndrome, not provided, Gilbert syndrome,
Crigler-Najjar syndrome | Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234681506
- GRCh38:
- Chr2:233772860
| UGT1A9, UGT1A6, UGT1A3, UGT1A10, UGT1A8, UGT1A5, UGT1A1, UGT1A, UGT1A7, UGT1A4 | | Lucey-Driscoll syndrome, Gilbert syndrome, Crigler-Najjar syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681121
- GRCh38:
- Chr2:233772475
| UGT1A3, UGT1A, UGT1A1, UGT1A7, UGT1A9, UGT1A5, UGT1A10, UGT1A4, UGT1A6, UGT1A8 | | Lucey-Driscoll syndrome, Crigler-Najjar syndrome, Gilbert syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681014
- GRCh38:
- Chr2:233772368
| UGT1A7, UGT1A8, UGT1A5, UGT1A3, UGT1A10, UGT1A, UGT1A6, UGT1A1, UGT1A4, UGT1A9 | A468T, A471T, A472T, A203T, A470T | Lucey-Driscoll syndrome, Crigler-Najjar syndrome, Gilbert syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234669517
- GRCh38:
- Chr2:233760871
| UGT1A5, UGT1A9, UGT1A, UGT1A4, UGT1A10, UGT1A3, UGT1A8, UGT1A7, UGT1A6, UGT1A1 | R195K | not provided, Crigler-Najjar syndrome, Lucey-Driscoll syndrome,
Gilbert syndrome, Inborn genetic diseases | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669221
- GRCh38:
- Chr2:233760575
| UGT1A8, UGT1A1, UGT1A3, UGT1A4, UGT1A, UGT1A10, UGT1A6, UGT1A5, UGT1A9, UGT1A7 | | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681474
- GRCh38:
- Chr2:233772828
| UGT1A7, UGT1A10, UGT1A5, UGT1A6, UGT1A3, UGT1A4, UGT1A, UGT1A8, UGT1A1, UGT1A9 | | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681013
- GRCh38:
- Chr2:233772367
| UGT1A8, UGT1A3, UGT1A9, UGT1A5, UGT1A, UGT1A6, UGT1A10, UGT1A4, UGT1A7, UGT1A1 | | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681879
- GRCh38:
- Chr2:233773233
| UGT1A10, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A3, UGT1A, UGT1A8, UGT1A1, UGT1A7 | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681666
- GRCh38:
- Chr2:233773020
| UGT1A6, UGT1A7, UGT1A8, UGT1A10, UGT1A5, UGT1A9, UGT1A1, UGT1A3, UGT1A4, UGT1A | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681393
- GRCh38:
- Chr2:233772747
| UGT1A, UGT1A9, UGT1A3, UGT1A5, UGT1A7, UGT1A8, UGT1A4, UGT1A10, UGT1A6, UGT1A1 | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681338
- GRCh38:
- Chr2:233772692
| UGT1A, UGT1A1, UGT1A10, UGT1A6, UGT1A5, UGT1A4, UGT1A9, UGT1A3, UGT1A7, UGT1A8 | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234676961
- GRCh38:
- Chr2:233768315
| UGT1A, UGT1A5, UGT1A9, UGT1A6, UGT1A7, UGT1A3, UGT1A1, UGT1A8, UGT1A10, UGT1A4 | F126L, F391L, F394L, F395L, F393L | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234669294
- GRCh38:
- Chr2:233760648
| UGT1A4, UGT1A8, UGT1A, UGT1A10, UGT1A3, UGT1A1, UGT1A7, UGT1A9, UGT1A5, UGT1A6 | A121P | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234668958
- GRCh38:
- Chr2:233760312
| UGT1A6, UGT1A5, UGT1A7, UGT1A9, UGT1A1, UGT1A8, UGT1A4, UGT1A3, UGT1A, UGT1A10 | R9C | Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:21074122
- GRCh38:
- Chr12:20921188
| SLCO1B3-SLCO1B7, SLCO1B3 | | Gilbert syndrome | Benign
(May 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:21017875
- GRCh38:
- Chr12:20864941
| SLCO1B3, SLCO1B3-SLCO1B7 | | Gilbert syndrome | Benign
(May 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:234672722
- GRCh38:
- Chr2:233764076
| UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5 | | Gilbert syndrome | Benign
(May 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:234665782
- GRCh38:
- Chr2:233757136
| UGT1A1, UGT1A10, UGT1A3, UGT1A, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | irinotecan response - Toxicity | drug response
(Mar 24, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr2:234675779
- GRCh38:
- Chr2:233767133
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | I322V, I323V, I319V, I321V, I54V | not provided, Crigler-Najjar syndrome, Gilbert syndrome,
Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Aug 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669075
- GRCh38:
- Chr2:233760429
| UGT1A7, UGT1A, UGT1A10, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, UGT1A8 | Q48E | not provided, Crigler-Najjar syndrome, Gilbert syndrome,
Lucey-Driscoll syndrome | Uncertain significance
(Jun 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234676558
- GRCh38:
- Chr2:233767912
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | W354R, W86R, W351R, W355R, W353R | not provided, Gilbert syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669100
- GRCh38:
- Chr2:233760454
| UGT1A8, UGT1A3, UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A10, UGT1A, UGT1A7 | E56A | not provided, Crigler-Najjar syndrome, Gilbert syndrome,
Lucey-Driscoll syndrome | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669771
- GRCh38:
- Chr2:233761125
| UGT1A5, UGT1A4, UGT1A9, UGT1A, UGT1A1, UGT1A3, UGT1A10, UGT1A6, UGT1A8, UGT1A7 | C280G | not provided, Lucey-Driscoll syndrome, Gilbert syndrome,
Crigler-Najjar syndrome | Uncertain significance
(Nov 29, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234676889
- GRCh38:
- Chr2:233768243
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | I370V, I102V, I369V, I367V, I371V | Gilbert syndrome, not provided | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234668881-234668882
- GRCh38:
- Chr2:233760235-233760236
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | not provided | other
(Oct 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234669319
- GRCh38:
- Chr2:233760673
| UGT1A, UGT1A4, UGT1A3, UGT1A8, UGT1A1, UGT1A10, UGT1A7, UGT1A6, UGT1A5, UGT1A9 | H129R | not provided, Lucey-Driscoll syndrome, Crigler-Najjar syndrome,
Gilbert syndrome | Uncertain significance
(Oct 16, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669122
- GRCh38:
- Chr2:233760476
| UGT1A3, UGT1A7, UGT1A, UGT1A6, UGT1A1, UGT1A9, UGT1A4, UGT1A10, UGT1A5, UGT1A8 | | Crigler-Najjar syndrome, not provided, Gilbert syndrome,
Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234676988
- GRCh38:
- Chr2:233768342
| UGT1A1, UGT1A, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | R403C, R404C, R400C, R402C, R135C | Gilbert syndrome, Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II,
Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome type 1, not provided
| Uncertain significance
(Feb 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669005
- GRCh38:
- Chr2:233760359
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | Crigler-Najjar syndrome type 1, Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II,
Gilbert syndrome, Bilirubin, serum level of, quantitative trait locus 1, not specified
| Likely benign
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234681790
- GRCh38:
- Chr2:233773144
| UGT1A7, UGT1A9, UGT1A3, UGT1A1, UGT1A8, UGT1A4, UGT1A10, UGT1A5, UGT1A6, UGT1A | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681645
- GRCh38:
- Chr2:233772999
| UGT1A3, UGT1A9, UGT1A10, UGT1A, UGT1A5, UGT1A1, UGT1A8, UGT1A4, UGT1A7, UGT1A6 | | Crigler-Najjar syndrome, Gilbert syndrome, Lucey-Driscoll syndrome
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681544
- GRCh38:
- Chr2:233772898
| UGT1A5, UGT1A7, UGT1A6, UGT1A, UGT1A9, UGT1A4, UGT1A8, UGT1A1, UGT1A10, UGT1A3 | | Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681416
- GRCh38:
- Chr2:233772770
| UGT1A9, UGT1A4, UGT1A3, UGT1A7, UGT1A6, UGT1A10, UGT1A1, UGT1A5, UGT1A8, UGT1A | | not provided, Lucey-Driscoll syndrome, Gilbert syndrome,
Crigler-Najjar syndrome | Benign/Likely benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234681406
- GRCh38:
- Chr2:233772760
| UGT1A8, UGT1A9, UGT1A3, UGT1A5, UGT1A6, UGT1A1, UGT1A10, UGT1A4, UGT1A, UGT1A7 | | Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234680925
- GRCh38:
- Chr2:233772279
| UGT1A7, UGT1A9, UGT1A6, UGT1A8, UGT1A5, UGT1A1, UGT1A3, UGT1A, UGT1A4, UGT1A10 | M441T, M440T, M173T, M438T, M442T | not provided, Gilbert syndrome, Crigler-Najjar syndrome,
Lucey-Driscoll syndrome | Uncertain significance
(Mar 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669410
- GRCh38:
- Chr2:233760764
| UGT1A3, UGT1A10, UGT1A7, UGT1A8, UGT1A9, UGT1A6, UGT1A4, UGT1A1, UGT1A5, UGT1A | | not provided, Gilbert syndrome, Crigler-Najjar syndrome,
Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669233
- GRCh38:
- Chr2:233760587
| UGT1A5, UGT1A10, UGT1A9, UGT1A8, UGT1A7, UGT1A6, UGT1A, UGT1A1, UGT1A4, UGT1A3 | | not provided, Gilbert syndrome, Crigler-Najjar syndrome,
Lucey-Driscoll syndrome | Uncertain significance
(Feb 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669227
- GRCh38:
- Chr2:233760581
| UGT1A4, UGT1A6, UGT1A9, UGT1A, UGT1A1, UGT1A7, UGT1A3, UGT1A10, UGT1A5, UGT1A8 | | not provided, Gilbert syndrome, Crigler-Najjar syndrome,
Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Nov 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669070
- GRCh38:
- Chr2:233760424
| UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A, UGT1A1, UGT1A10 | A46V | Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome type 1, Gilbert syndrome,
Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II, not provided
| Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669510
- GRCh38:
- Chr2:233760864
| UGT1A10, UGT1A6, UGT1A1, UGT1A7, UGT1A5, UGT1A9, UGT1A, UGT1A4, UGT1A8, UGT1A3 | V193M | Inborn genetic diseases, not provided, Crigler-Najjar syndrome,
Gilbert syndrome, Lucey-Driscoll syndrome | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669259
- GRCh38:
- Chr2:233760613
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | V109A | Crigler-Najjar syndrome, not provided, Gilbert syndrome,
Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Sep 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669473
- GRCh38:
- Chr2:233760827
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | Crigler-Najjar syndrome, not specified, not provided,
Gilbert syndrome, Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234676880
- GRCh38:
- Chr2:233768234
| UGT1A9, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8 | R367C, R366C, R368C, R364C, R99C | Crigler-Najjar syndrome type 1, Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II,
Gilbert syndrome, Bilirubin, serum level of, quantitative trait locus 1, not provided
| Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234680927
- GRCh38:
- Chr2:233772281
| UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A5, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4 | R442C, R439C, R443C, R441C, R174C | Crigler-Najjar syndrome, Crigler-Najjar syndrome type 1, Lucey-Driscoll syndrome,
Crigler-Najjar syndrome, type II, Gilbert syndrome, Bilirubin, serum level of, quantitative trait locus 1,
not provided | Uncertain significance
(Apr 14, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:21329738
- GRCh38:
- Chr12:21176804
| SLCO1B1 | N130D | not specified, not provided, Rotor syndrome
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234676872
- GRCh38:
- Chr2:233768226
| UGT1A, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A1, UGT1A6, UGT1A7, UGT1A8 | P361L, P363L, P364L, P365L, P96L | Hyperbilirubinemia, Bilirubin, serum level of, quantitative trait locus 1, Lucey-Driscoll syndrome,
Crigler-Najjar syndrome, type II, Crigler-Najjar syndrome type 1, Gilbert syndrome,
Gilbert syndrome, not provided, Crigler-Najjar syndrome type 1
| Conflicting interpretations of pathogenicity; other
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234680955
- GRCh38:
- Chr2:233772309
| UGT1A10, UGT1A9, UGT1A1, UGT1A6, UGT1A4, UGT1A3, UGT1A5, UGT1A, UGT1A7, UGT1A8 | P183L, P448L, P450L, P451L, P452L | Lucey-Driscoll syndrome, Crigler-Najjar syndrome, type II, Gilbert syndrome,
Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome type 1, not provided
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234676903
- GRCh38:
- Chr2:233768257
| UGT1A4, UGT1A1, UGT1A5, UGT1A6, UGT1A9, UGT1A3, UGT1A10, UGT1A, UGT1A8, UGT1A7 | | not provided, Crigler-Najjar syndrome, Lucey-Driscoll syndrome,
Gilbert syndrome | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234675826
- GRCh38:
- Chr2:233767180
| UGT1A9, UGT1A8, UGT1A5, UGT1A, UGT1A7, UGT1A6, UGT1A1, UGT1A3, UGT1A4, UGT1A10 | | not provided, Crigler-Najjar syndrome, Lucey-Driscoll syndrome,
Gilbert syndrome, Hyperbilirubinemia | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669681
- GRCh38:
- Chr2:233761035
| UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A1, UGT1A10, UGT1A9, UGT1A8 | S250P | not provided, Crigler-Najjar syndrome, Gilbert syndrome,
Lucey-Driscoll syndrome, Hyperbilirubinemia | Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669607
- GRCh38:
- Chr2:233760961
| UGT1A8, UGT1A6, UGT1A10, UGT1A3, UGT1A1, UGT1A4, UGT1A5, UGT1A, UGT1A7, UGT1A9 | V225G | Inborn genetic diseases, not provided, Crigler-Najjar syndrome,
Lucey-Driscoll syndrome, Gilbert syndrome, Hyperbilirubinemia
| Conflicting interpretations of pathogenicity; other
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669255
- GRCh38:
- Chr2:233760609
| UGT1A3, UGT1A4, UGT1A7, UGT1A6, UGT1A5, UGT1A, UGT1A10, UGT1A9, UGT1A8, UGT1A1 | R108C | Gilbert syndrome, Inborn genetic diseases, Hyperbilirubinemia
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234681031
- GRCh38:
- Chr2:233772385
| UGT1A9, UGT1A4, UGT1A8, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A5, UGT1A6, UGT1A7 | | not specified, not provided, Crigler-Najjar syndrome,
Gilbert syndrome, Lucey-Driscoll syndrome | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669074
- GRCh38:
- Chr2:233760428
| UGT1A9, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A, UGT1A1, UGT1A10 | | not specified, not provided, Crigler-Najjar syndrome,
Gilbert syndrome, Lucey-Driscoll syndrome, Hyperbilirubinemia
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:21331549
- GRCh38:
- Chr12:21178615
| SLCO1B1 | V174A | hmg coa reductase inhibitors response - Toxicity, simvastatin response - Toxicity, rosuvastatin response - Metabolism/PK,
atorvastatin response - Metabolism/PK, atorvastatin response - Toxicity, simvastatin acid response - Metabolism/PK
| drug response
(Apr 7, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr2:234672639
- GRCh38:
- Chr2:233763993
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | Bilirubin, serum level of, quantitative trait locus 1, Gilbert syndrome | Benign; association
(May 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:234665659
- GRCh38:
- Chr2:233757013
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | not provided, Gilbert syndrome | Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234668977
- GRCh38:
- Chr2:233760331
| UGT1A3, UGT1A4, UGT1A9, UGT1A5, UGT1A, UGT1A1, UGT1A10, UGT1A7, UGT1A8, UGT1A6 | L15R | Gilbert syndrome, Lucey-Driscoll syndrome, Crigler-Najjar syndrome type 1,
Crigler-Najjar syndrome, type II, Bilirubin, serum level of, quantitative trait locus 1 | Likely pathogenic
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234676979
- GRCh38:
- Chr2:233768333
| UGT1A, UGT1A6, UGT1A4, UGT1A7, UGT1A9, UGT1A3, UGT1A5, UGT1A1, UGT1A10, UGT1A8 | N400D, N132D, N397D, N399D, N401D | UGT1A1-Related Disorders | Uncertain significance
(Nov 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234681059
- GRCh38:
- Chr2:233772413
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | Y486D, Y218D, Y483D, Y485D, Y487D | Gilbert syndrome, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome, type II,
Lucey-Driscoll syndrome, Bilirubin, serum level of, quantitative trait locus 1, not provided,
Crigler-Najjar syndrome, type II, Hyperbilirubinemia | Pathogenic/Likely pathogenic
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234669144
- GRCh38:
- Chr2:233760498
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | G71R | not specified, not provided, Crigler-Najjar syndrome, type II,
Gilbert syndrome, Irinotecan response | Conflicting interpretations of pathogenicity; drug response
(Nov 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234668881
- GRCh38:
- Chr2:233760233-233760234
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | | Gilbert syndrome, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome, type II,
Lucey-Driscoll syndrome, Bilirubin, serum level of, quantitative trait locus 1, not specified,
not provided, Crigler-Najjar syndrome, type II, Gilbert syndrome,
Irinotecan response | Conflicting interpretations of pathogenicity; drug response; other
(Dec 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234669619
- GRCh38:
- Chr2:233760973
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | P229Q | not specified, not provided | Conflicting interpretations of pathogenicity; other
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:234675738
- GRCh38:
- Chr2:233767092
| UGT1A8, UGT1A7, UGT1A5, UGT1A1, UGT1A6, UGT1A3, UGT1A9, UGT1A, UGT1A4, UGT1A10 | G309E, G305E, G307E, G308E, G40E | not provided, Gilbert syndrome | Likely pathogenic
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:234676519
- GRCh38:
- Chr2:233767873
| UGT1A1, UGT1A10, UGT1A7, UGT1A3, UGT1A4, UGT1A6, UGT1A5, UGT1A8, UGT1A9, UGT1A | R341*, R338*, R340*, R342*, R73* | not provided, Crigler-Najjar syndrome type 1, Gilbert syndrome
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |