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Items: 1 to 100 of 114

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:234669666
GRCh38:
Chr2:233761020
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Q245*UGT1A1-Related DisordersUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000632352
2.
GRCh37:
Chr2:234669128
GRCh38:
Chr2:233760482
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Sep 13, 2018)
criteria provided, single submitterVCV000598689
3.
GRCh37:
Chr2:234680952
GRCh38:
Chr2:233772306
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R450H, R182H, R447H, R449H, R451Hnot providedUncertain significance
(Aug 27, 2018)
criteria provided, single submitterVCV000598532
4.
GRCh37:
Chr2:234676524
GRCh38:
Chr2:233767878
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Aug 10, 2018)
criteria provided, single submitterVCV000598355
5.
GRCh37:
Chr2:234669092
GRCh38:
Chr2:233760446
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Jul 16, 2018)
criteria provided, single submitterVCV000598040
6.
GRCh37:
Chr2:234668955
GRCh38:
Chr2:233760309
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3G8Rnot providedUncertain significance
(Jun 11, 2018)
criteria provided, single submitterVCV000597581
7.
GRCh37:
Chr2:234669075
GRCh38:
Chr2:233760429
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Q48Enot providedUncertain significance
(Jun 11, 2018)
criteria provided, single submitterVCV000597578
8.
GRCh37:
Chr2:234676941-234676942
GRCh38:
Chr2:233768295-233768296
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedLikely pathogenic
(May 18, 2018)
criteria provided, single submitterVCV000597250
9.
GRCh37:
Chr2:234668930
GRCh38:
Chr2:233760284
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(May 15, 2018)
criteria provided, single submitterVCV000597216
10.
GRCh37:
Chr2:234681061
GRCh38:
Chr2:233772415
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(May 8, 2018)
criteria provided, single submitterVCV000597100
11.
GRCh37:
Chr2:234676558
GRCh38:
Chr2:233767912
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3W354R, W86R, W351R, W355R, W353Rnot providedUncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000597089
12.
GRCh37:
Chr2:234676951
GRCh38:
Chr2:233768305
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3M390I, M122I, M389I, M391I, M387Inot providedUncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000596945
13.
GRCh37:
Chr2:234669361
GRCh38:
Chr2:233760715
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3S143Nnot providedUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000596704
14.
GRCh37:
Chr2:234669100
GRCh38:
Chr2:233760454
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3E56Anot providedUncertain significance
(Mar 8, 2018)
criteria provided, single submitterVCV000596451
15.
GRCh37:
Chr2:234680951
GRCh38:
Chr2:233772305
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R450C, R182C, R447C, R449C, R451Cnot providedUncertain significance
(Feb 20, 2018)
criteria provided, single submitterVCV000596200
16.
GRCh37:
Chr2:234681147
GRCh38:
Chr2:233772501
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R515L, R247L, R516L, R512L, R514Lnot providedUncertain significance
(Feb 20, 2018)
criteria provided, single submitterVCV000596188
17.
GRCh37:
Chr2:234681058
GRCh38:
Chr2:233772412
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Feb 15, 2018)
criteria provided, single submitterVCV000596187
18.
GRCh37:
Chr2:234681073
GRCh38:
Chr2:233772427
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Mar 2, 2018)
criteria provided, single submitterVCV000596165
19.
GRCh37:
Chr2:234676891-234676931
GRCh38:
Chr2:233768245-233768285
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000595840
20.
GRCh37:
Chr2:234669750
GRCh38:
Chr2:233761104
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V273Fnot providedUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000595764
21.
GRCh37:
Chr2:234669771
GRCh38:
Chr2:233761125
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3C280Gnot providedUncertain significance
(Nov 29, 2017)
criteria provided, single submitterVCV000595180
22.
GRCh37:
Chr2:234676889
GRCh38:
Chr2:233768243
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3I370V, I102V, I369V, I367V, I371Vnot providedUncertain significance
(Nov 21, 2017)
criteria provided, single submitterVCV000595091
23.
GRCh37:
Chr2:234669319
GRCh38:
Chr2:233760673
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3H129Rnot providedUncertain significance
(Oct 16, 2017)
criteria provided, single submitterVCV000594558
24.
GRCh37:
Chr2:234676979
GRCh38:
Chr2:233768333
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3N400H, N399H, N132H, N397H, N401Hnot providedUncertain significance
(Sep 15, 2017)
criteria provided, single submitterVCV000594091
25.
GRCh37:
Chr2:234676955
GRCh38:
Chr2:233768309
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3P392S, P124S, P389S, P391S, P393Snot providedUncertain significance
(Sep 26, 2017)
criteria provided, single submitterVCV000593954
26.
GRCh37:
Chr2:234676881
GRCh38:
Chr2:233768235
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R367L, R364L, R366L, R99L, R368Lnot providedUncertain significance
(Jul 31, 2017)
criteria provided, single submitterVCV000593490
27.
GRCh37:
Chr2:234675722
GRCh38:
Chr2:233767076
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A4, UGT1A1, UGT1A3, UGT1A5, UGT1A9V303M, V35M, V300M, V304M, V302Mnot providedUncertain significance
(Jul 11, 2017)
criteria provided, single submitterVCV000593170
28.
GRCh37:
Chr2:234681170
GRCh38:
Chr2:233772524
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R255*, R522*, R523*, R524*, R520*not provided, Crigler-Najjar syndromeUncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000548505
29.
GRCh37:
Chr2:234669734
GRCh38:
Chr2:233761088
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Jun 29, 2017)
criteria provided, single submitterVCV000502774
30.
GRCh37:
Chr2:234676989
GRCh38:
Chr2:233768343
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R403H, R402H, R404H, R400H, R135Hnot providedUncertain significance
(Jun 15, 2017)
criteria provided, single submitterVCV000502603
31.
GRCh37:
Chr2:234676942
GRCh38:
Chr2:233768296
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Apr 11, 2017)
criteria provided, single submitterVCV000501357
32.
GRCh37:
Chr2:234681161
GRCh38:
Chr2:233772515
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3K520E, K252E, K521E, K517E, K519Enot providedUncertain significance
(Apr 10, 2017)
criteria provided, single submitterVCV000501342
33.
GRCh37:
Chr2:234668952
GRCh38:
Chr2:233760306
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3G7Snot providedUncertain significance
(Mar 7, 2017)
criteria provided, single submitterVCV000500778
34.
GRCh37:
Chr2:234669122
GRCh38:
Chr2:233760476
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Sep 17, 2018)
criteria provided, single submitterVCV000500144
35.
GRCh37:
Chr2:234676499
GRCh38:
Chr2:233767853
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3L334Q, L66Q, L333Q, L331Q, L335Qnot providedUncertain significance
(Dec 20, 2016)
criteria provided, single submitterVCV000499349
36.
GRCh37:
Chr2:234681167
GRCh38:
Chr2:233772521
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3G522R, G254R, G519R, G521R, G523Rnot providedUncertain significance
(Dec 5, 2016)
criteria provided, single submitterVCV000499069
37.
GRCh37:
Chr2:234669143
GRCh38:
Chr2:233760497
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3D70Enot providedUncertain significance
(Dec 22, 2016)
criteria provided, single submitterVCV000498761
38.
GRCh37:
Chr2:234681062
GRCh38:
Chr2:233772416
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3H487Y, H219Y, H484Y, H488Y, H486Ynot providedUncertain significance
(Nov 18, 2016)
criteria provided, single submitterVCV000498743
39.
GRCh37:
Chr2:234676988
GRCh38:
Chr2:233768342
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R403C, R404C, R400C, R402C, R135CCrigler Najjar syndrome, type 1, Gilbert's syndrome, Crigler-Najjar syndrome, type II,
Bilirubin, serum level of, quantitative trait locus 1, Lucey-Driscoll syndrome, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000498359
40.
GRCh37:
Chr2:234669768
GRCh38:
Chr2:233761122
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3N279Ynot providedUncertain significance
(Jul 27, 2017)
criteria provided, single submitterVCV000498039
41.
GRCh37:
Chr2:234676937
GRCh38:
Chr2:233768291
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V386I, V118I, V383I, V385I, V387Inot providedUncertain significance
(Oct 17, 2016)
criteria provided, single submitterVCV000498022
42.
GRCh37:
Chr2:234669332
GRCh38:
Chr2:233760686
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3N133Knot providedUncertain significance
(Oct 11, 2016)
criteria provided, single submitterVCV000497962
43.
GRCh37:
Chr2:234676866
GRCh38:
Chr2:233768220
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3G362V, G361V, G94V, G363V, G359Vnot providedUncertain significance
(Oct 5, 2017)
criteria provided, single submitterVCV000497628
44.
GRCh37:
Chr2:234681158
GRCh38:
Chr2:233772512
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3G519R, G518R, G251R, G520R, G516Rnot providedUncertain significance
(Oct 4, 2016)
criteria provided, single submitterVCV000497447
45.
GRCh37:
Chr2:234681098
GRCh38:
Chr2:233772452
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V231M, V496M, V498M, V499M, V500Mnot providedUncertain significance
(Jul 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000444554
46.
GRCh37:
Chr2:234676504
GRCh38:
Chr2:233767858
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R336W, R333W, R335W, R68W, R337Wnot provided, Crigler-Najjar syndromePathogenic
(Nov 6, 2017)
criteria provided, multiple submitters, no conflictsVCV000437450
47.
GRCh37:
Chr2:234669558
GRCh38:
Chr2:233760912
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R209WInborn genetic diseases, Crigler-Najjar syndromePathogenic/Likely pathogenic
(Jun 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000437211
48.
GRCh37:
Chr2:234669155
GRCh38:
Chr2:233760509
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Y74*not provided, Crigler-Najjar syndromePathogenic
(May 30, 2017)
criteria provided, multiple submitters, no conflictsVCV000437210
49.
GRCh37:
Chr2:234669555-234669558
GRCh38:
Chr2:233760909-233760912
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, Crigler-Najjar syndromePathogenic
(May 30, 2017)
criteria provided, multiple submitters, no conflictsVCV000437209
50.
GRCh37:
Chr2:234669542-234669565
GRCh38:
Chr2:233760896-233760919
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndromeLikely pathogenic
(May 26, 2016)
criteria provided, single submitterVCV000437208
51.
GRCh37:
Chr2:234669525
GRCh38:
Chr2:233760879
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3S198Pnot specifiedUncertain significance
(May 26, 2016)
criteria provided, single submitterVCV000437207
52.
GRCh37:
Chr2:234669005
GRCh38:
Chr2:233760359
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not specifiedLikely benign
(Jun 24, 2016)
criteria provided, single submitterVCV000437206
53.
GRCh37:
Chr2:234676582
GRCh38:
Chr2:233767936
UGT1A7, UGT1A6, UGT1A4, UGT1A, UGT1A10, UGT1A8, UGT1A5, UGT1A1, UGT1A3, UGT1A9G362S, G359S, G363S, G94S, G361Snot providedConflicting interpretations of pathogenicity
(Nov 1, 2017)
criteria provided, conflicting interpretationsVCV000420162
54.
GRCh37:
Chr2:234681790
GRCh38:
Chr2:233773144
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335087
55.
GRCh37:
Chr2:234681645
GRCh38:
Chr2:233772999
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335086
56.
GRCh37:
Chr2:234681544
GRCh38:
Chr2:233772898
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335085
57.
GRCh37:
Chr2:234681416
GRCh38:
Chr2:233772770
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335084
58.
GRCh37:
Chr2:234681406
GRCh38:
Chr2:233772760
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335083
59.
GRCh37:
Chr2:234680925
GRCh38:
Chr2:233772279
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3M441T, M440T, M173T, M438T, M442Tnot provided, Crigler-Najjar syndrome, Gilbert's syndrome,
Lucey-Driscoll syndrome
Uncertain significance
(Mar 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000335082
60.
GRCh37:
Chr2:234669410
GRCh38:
Chr2:233760764
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, Crigler-Najjar syndrome, Gilbert's syndrome,
Lucey-Driscoll syndrome
Uncertain significance
(Jan 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000335081
61.
GRCh37:
Chr2:234669233
GRCh38:
Chr2:233760587
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, Crigler-Najjar syndrome, Lucey-Driscoll syndrome,
Gilbert's syndrome
Uncertain significance
(Feb 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000335080
62.
GRCh37:
Chr2:234669227
GRCh38:
Chr2:233760581
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335079
63.
GRCh37:
Chr2:234676571
GRCh38:
Chr2:233767925
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3N358T, N359T, N357T, N355T, N90Tnot providedUncertain significance
(Sep 13, 2016)
criteria provided, single submitterVCV000291197
64.
GRCh37:
Chr2:234669070
GRCh38:
Chr2:233760424
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3A46Vnot providedUncertain significance
(Sep 13, 2016)
criteria provided, single submitterVCV000291189
65.
GRCh37:
Chr2:234669510
GRCh38:
Chr2:233760864
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V193Mnot providedUncertain significance
(Aug 16, 2016)
criteria provided, single submitterVCV000290430
66.
GRCh37:
Chr2:234669259
GRCh38:
Chr2:233760613
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V109Anot providedUncertain significance
(Feb 15, 2018)
criteria provided, single submitterVCV000289882
67.
GRCh37:
Chr2:234669071
GRCh38:
Chr2:233760425
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not providedUncertain significance
(Aug 11, 2016)
criteria provided, single submitterVCV000289738
68.
GRCh37:
Chr2:234669473
GRCh38:
Chr2:233760827
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not specified, not providedConflicting interpretations of pathogenicity
(Mar 22, 2018)
criteria provided, conflicting interpretationsVCV000289602
69.
GRCh37:
Chr2:234676880
GRCh38:
Chr2:233768234
UGT1A8, UGT1A7, UGT1A6, UGT1A9, UGT1A4, UGT1A1, UGT1A3, UGT1A, UGT1A10, UGT1A5R367C, R366C, R368C, R364C, R99Cnot providedUncertain significance
(May 12, 2016)
criteria provided, single submitterVCV000288098
70.
GRCh37:
Chr2:234680927
GRCh38:
Chr2:233772281
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R442C, R439C, R443C, R441C, R174CCrigler Najjar syndrome, type 1, Gilbert's syndrome, Crigler-Najjar syndrome, type II,
Bilirubin, serum level of, quantitative trait locus 1, Lucey-Driscoll syndrome, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000286999
71.
GRCh37:
Chr2:234676956
GRCh38:
Chr2:233768310
UGT1A, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, UGT1A10, UGT1A8, UGT1A7, UGT1A6P392L, P391L, P124L, P389L, P393Lnot providedUncertain significance
(Dec 18, 2015)
criteria provided, single submitterVCV000285286
72.
GRCh37:
Chr2:234676567
GRCh38:
Chr2:233767921
UGT1A5, UGT1A9, UGT1A6, UGT1A3, UGT1A8, UGT1A4, UGT1A1, UGT1A10, UGT1A, UGT1A7Q357*, Q356*, Q358*, Q354*, Q89*not providedPathogenic
(Dec 18, 2015)
criteria provided, single submitterVCV000285285
73.
GRCh37:
Chr2:234669508
GRCh38:
Chr2:233760862
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Y192Cnot providedUncertain significance
(Oct 28, 2015)
criteria provided, single submitterVCV000284079
74.
GRCh37:
Chr2:234669286
GRCh38:
Chr2:233760640
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Inborn genetic diseases, Crigler Najjar syndrome, type 1Pathogenic
(Nov 16, 2016)
criteria provided, single submitterVCV000266037
75.
GRCh37:
Chr2:234681032
GRCh38:
Chr2:233772386
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3A474S, A209S, A476S, A478S, A477Snot specifiedUncertain significance
(Jun 25, 2015)
criteria provided, single submitterVCV000218786
76.
GRCh37:
Chr2:234669655-234669656
GRCh38:
Chr2:233761009-233761010
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, HyperbilirubinemiaPathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000212545
77.
GRCh37:
Chr2:234669171-234669172
GRCh38:
Chr2:233760525-233760526
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3HyperbilirubinemiaPathogenic
(Feb 8, 2013)
criteria provided, single submitterVCV000212544
78.
GRCh37:
Chr2:234676872
GRCh38:
Chr2:233768226
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3P361L, P363L, P364L, P365L, P96LCrigler Najjar syndrome, type 1, Gilbert's syndrome, Crigler-Najjar syndrome, type II,
Bilirubin, serum level of, quantitative trait locus 1, Lucey-Driscoll syndrome, not provided,
Hyperbilirubinemia
Pathogenic/Likely pathogenic, other
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000212543
79.
GRCh37:
Chr2:234680955
GRCh38:
Chr2:233772309
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3P183L, P448L, P450L, P451L, P452Lnot providedUncertain significance
(Aug 27, 2018)
criteria provided, single submitterVCV000197672
80.
GRCh37:
Chr2:234676903
GRCh38:
Chr2:233768257
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, Crigler-Najjar syndrome, Gilbert's syndrome,
Lucey-Driscoll syndrome
Uncertain significance
(Feb 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000197147
81.
GRCh37:
Chr2:234675826
GRCh38:
Chr2:233767180
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Crigler-Najjar syndrome, Gilbert's syndrome, Lucey-Driscoll syndrome,
Hyperbilirubinemia
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000160241
82.
GRCh37:
Chr2:234669681
GRCh38:
Chr2:233761035
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3S250Pnot provided, HyperbilirubinemiaUncertain significance
(Jul 27, 2018)
criteria provided, multiple submitters, no conflictsVCV000160240
83.
GRCh37:
Chr2:234669607
GRCh38:
Chr2:233760961
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V225Gnot provided, Crigler-Najjar syndrome, Gilbert's syndrome,
Lucey-Driscoll syndrome, Hyperbilirubinemia
Conflicting interpretations of pathogenicity, other
(Feb 9, 2018)
criteria provided, conflicting interpretationsVCV000160239
84.
GRCh37:
Chr2:234669412
GRCh38:
Chr2:233760766
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V160EHyperbilirubinemiaUncertain significance
(Feb 8, 2013)
criteria provided, single submitterVCV000160238
85.
GRCh37:
Chr2:234669409
GRCh38:
Chr2:233760763
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3I159THyperbilirubinemiaUncertain significance
(Mar 12, 2013)
criteria provided, single submitterVCV000160237
86.
GRCh37:
Chr2:234669255
GRCh38:
Chr2:233760609
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3R108CHyperbilirubinemiaUncertain significance
(Mar 24, 2014)
criteria provided, single submitterVCV000160236
87.
GRCh37:
Chr2:234681031
GRCh38:
Chr2:233772385
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not specifiedBenign
(Mar 18, 2013)
criteria provided, single submitterVCV000160235
88.
GRCh37:
Chr2:234669074
GRCh38:
Chr2:233760428
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not specified, HyperbilirubinemiaConflicting interpretations of pathogenicity
(Apr 27, 2016)
criteria provided, conflicting interpretationsVCV000160234
89.
GRCh37:
Chr2:234669074
GRCh38:
Chr2:233760428
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3HyperbilirubinemiaUncertain significance
(Mar 4, 2013)
criteria provided, single submitterVCV000160233
90.
GRCh37:
Chr2:234681016
GRCh38:
Chr2:233772370
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3HyperbilirubinemiaUncertain significance
(Feb 8, 2013)
criteria provided, single submitterVCV000160232
91.
GRCh37:
Chr2:234680957
GRCh38:
Chr2:233772311
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V184L, V449L, V451L, V452L, V453LHyperbilirubinemiaUncertain significance
(May 20, 2014)
criteria provided, single submitterVCV000160231
92.
GRCh37:
Chr2:234677012
GRCh38:
Chr2:233768366
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3V143L, V408L, V410L, V411L, V412Lnot provided, HyperbilirubinemiaUncertain significance
(Aug 30, 2018)
criteria provided, multiple submitters, no conflictsVCV000160230
93.
GRCh37:
Chr2:234676583
GRCh38:
Chr2:233767937
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3not provided, HyperbilirubinemiaPathogenic
(Jun 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000160229
94.
GRCh37:
Chr2:234672639
GRCh38:
Chr2:233763993
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Bilirubin, serum level of, quantitative trait locus 1association
(Jul 15, 2009)
no assertion criteria providedVCV000012289
95.
GRCh37:
Chr2:234668977
GRCh38:
Chr2:233760331
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3L15RCrigler-Najjar syndrome, type IIPathogenic
(Oct 24, 2003)
no assertion criteria providedVCV000012287
96.
GRCh37:
Chr2:234676979
GRCh38:
Chr2:233768333
UGT1A6, UGT1A5, UGT1A10, UGT1A8, UGT1A9, UGT1A4, UGT1A1, UGT1A3, UGT1A7, UGT1AN400D, N132D, N397D, N399D, N401DUGT1A1-Related Disorders, Gilbert's syndrome, Crigler-Najjar syndrome, type II
Uncertain significance
(Nov 21, 2018)
criteria provided, single submitterVCV000012286
97.
GRCh37:
Chr2:234669457
GRCh38:
Chr2:233760811
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3L175Qnot provided, Crigler-Najjar syndrome, type IIother
(Mar 8, 2018)
criteria provided, single submitterVCV000012285
98.
UGT1A1Crigler-Najjar syndrome, type IIPathogenic
(Apr 1, 2001)
no assertion criteria providedVCV000012284
99.
GRCh37:
Chr2:234676568
GRCh38:
Chr2:233767922
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Q357R, Q354R, Q356R, Q358R, Q89RCrigler Najjar syndrome, type 1Pathogenic
(May 1, 2002)
no assertion criteria providedVCV000012283
100.
GRCh37:
Chr2:234681059
GRCh38:
Chr2:233772413
UGT1A, UGT1A10, UGT1A8, UGT1A3, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A7, UGT1A6Y486D, Y218D, Y483D, Y485D, Y487DLucey-Driscoll syndrome, Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome, type II,
Gilbert's syndrome, Crigler Najjar syndrome, type 1, Crigler-Najjar syndrome, type II,
Lucey-Driscoll syndrome, Hyperbilirubinemia
Pathogenic/Likely pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000012281
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