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Items: 1 to 100 of 350

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:42858959-44139304
GRCh38:
Chr15:42566761-43847106
See casesLikely pathogenic
(Nov 4, 2011)
no assertion criteria provided
2.
GRCh37:
Chr15:43077825-43634458
GRCh38:
Chr15:42785627-43342260
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
3.
GRCh37:
Chr15:43237203
GRCh38:
Chr15:42945005
UBR1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr15:43237414
GRCh38:
Chr15:42945216
UBR1not providedBenign
(May 16, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr15:43237557
GRCh38:
Chr15:42945359
UBR1M1740Inot providedUncertain significance
(Aug 23, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr15:43237572
GRCh38:
Chr15:42945374
UBR1not specified, not providedBenign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr15:43237575
GRCh38:
Chr15:42945377
UBR1S1734Rnot providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:43237583
GRCh38:
Chr15:42945385
UBR1A1732Snot provided, Inborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:43237594
GRCh38:
Chr15:42945396
UBR1I1728TInborn genetic diseasesUncertain significance
(Nov 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr15:43237630
GRCh38:
Chr15:42945432
UBR1R1716Qnot provided, Inborn genetic diseasesUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:43237642
GRCh38:
Chr15:42945444
UBR1R1712Hnot providedConflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr15:43237649
GRCh38:
Chr15:42945451
UBR1L1710Vnot providedUncertain significance
(Aug 25, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr15:43237664
GRCh38:
Chr15:42945466
UBR1G1705Snot providedUncertain significanceno assertion criteria provided
14.
GRCh37:
Chr15:43237676
GRCh38:
Chr15:42945478
UBR1not providedLikely benign
(Aug 20, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr15:43237814-43237823
GRCh38:
Chr15:42945616-42945625
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr15:43242268
GRCh38:
Chr15:42950070
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr15:43242269
GRCh38:
Chr15:42950071
UBR1not providedBenign
(May 25, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr15:43242476
GRCh38:
Chr15:42950278
UBR1T1698Anot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr15:43242506
GRCh38:
Chr15:42950308
UBR1P1688Snot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:43242547
GRCh38:
Chr15:42950349
UBR1R1674Qnot providedUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:43242549
GRCh38:
Chr15:42950351
UBR1C1673WJohanson-Blizzard syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr15:43242559-43242560
GRCh38:
Chr15:42950361-42950362
UBR1I1670fsnot providedPathogenic
(May 18, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr15:43242568
GRCh38:
Chr15:42950370
UBR1not providedLikely benign
(Aug 16, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr15:43244510
GRCh38:
Chr15:42952312
UBR1L1658Fnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:43244512
GRCh38:
Chr15:42952314
UBR1A1657Vnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:43244514
GRCh38:
Chr15:42952316
UBR1not providedLikely benign
(Feb 10, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:43244536
GRCh38:
Chr15:42952338
UBR1E1649Gnot providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr15:43244538
GRCh38:
Chr15:42952340
UBR1not providedLikely benign
(Aug 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:43244544
GRCh38:
Chr15:42952346
UBR1not specified, not providedBenign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:43244587
GRCh38:
Chr15:42952389
UBR1A1632Vnot providedConflicting interpretations of pathogenicity
(Jul 26, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr15:43244614
GRCh38:
Chr15:42952416
UBR1H1623Rnot providedUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr15:43244631
GRCh38:
Chr15:42952433
UBR1not providedLikely benign
(May 1, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr15:43244635
GRCh38:
Chr15:42952437
UBR1S1616Fnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:43244699
GRCh38:
Chr15:42952501
UBR1not providedBenign
(May 16, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr15:43250212
GRCh38:
Chr15:42958014
UBR1R1612Gnot specified, not providedLikely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr15:43250243
GRCh38:
Chr15:42958045
UBR1not specified, not providedBenign/Likely benign
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:43252764
GRCh38:
Chr15:42960566
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr15:43252850
GRCh38:
Chr15:42960652
UBR1V1584Mnot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:43252851
GRCh38:
Chr15:42960653
UBR1not providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:43252855
GRCh38:
Chr15:42960657
UBR1N1582fsJohanson-Blizzard syndromeLikely pathogeniccriteria provided, single submitter
41.
GRCh37:
Chr15:43252864
GRCh38:
Chr15:42960666
UBR1K1579RInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr15:43253105
GRCh38:
Chr15:42960907
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr15:43256121
GRCh38:
Chr15:42963923
UBR1not provided, Johanson-Blizzard syndrome, not specified
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:43256139
GRCh38:
Chr15:42963941
UBR1L1565Rnot providedLikely benign
(Apr 13, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr15:43256144
GRCh38:
Chr15:42963946
UBR1not providedLikely benign
(Mar 12, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:43256153
GRCh38:
Chr15:42963955
UBR1not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr15:43256180
GRCh38:
Chr15:42963982
UBR1not providedLikely benign
(Jun 8, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:43256191
GRCh38:
Chr15:42963993
UBR1T1548Anot specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:43256202
GRCh38:
Chr15:42964004
UBR1L1544Pnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:43256221
GRCh38:
Chr15:42964023
UBR1S1538RInborn genetic diseasesLikely benign
(Jan 7, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:43256230-43256232
GRCh38:
Chr15:42964032-42964034
UBR1E1534delnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:43256248
GRCh38:
Chr15:42964050
UBR1not providedLikely benign
(Sep 14, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:43258361
GRCh38:
Chr15:42966163
UBR1not providedLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:43258371
GRCh38:
Chr15:42966173
UBR1P1524Lnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:43258384
GRCh38:
Chr15:42966186
UBR1L1520FInborn genetic diseasesUncertain significance
(Mar 3, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr15:43258418
GRCh38:
Chr15:42966220
UBR1Y1508*Johanson-Blizzard syndromePathogenic
(May 21, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr15:43262708
GRCh38:
Chr15:42970510
UBR1not providedLikely benign
(Jul 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:43262751
GRCh38:
Chr15:42970553
UBR1S1475CInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr15:43262758
GRCh38:
Chr15:42970560
UBR1A1473Tnot providedLikely benign
(Jun 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:43262784
GRCh38:
Chr15:42970586
UBR1Q1464PInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr15:43262924-43262925
GRCh38:
Chr15:42970726-42970727
UBR1not providedBenign
(May 20, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr15:43268787-43268788
GRCh38:
Chr15:42976589-42976590
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr15:43268897
GRCh38:
Chr15:42976699
UBR1not providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr15:43268925
GRCh38:
Chr15:42976727
UBR1not providedLikely benign
(Jun 29, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr15:43268964
GRCh38:
Chr15:42976766
UBR1not providedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:43268974-43268975
GRCh38:
Chr15:42976776-42976777
UBR1Y1437fsnot providedPathogenic
(Dec 25, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr15:43268993
GRCh38:
Chr15:42976795
UBR1S1431Pnot providedUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr15:43269004
GRCh38:
Chr15:42976806
UBR1S1427Fnot providedUncertain significance
(Jul 26, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr15:43269011
GRCh38:
Chr15:42976813
UBR1Q1425EInborn genetic diseasesUncertain significance
(May 4, 2023)
criteria provided, single submitter
70.
GRCh37:
Chr15:43269068
GRCh38:
Chr15:42976870
UBR1Inborn genetic diseasesUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:43269082
GRCh38:
Chr15:42976884
UBR1not providedLikely benign
(Feb 10, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr15:43269881
GRCh38:
Chr15:42977683
UBR1not providedBenign
(May 19, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr15:43270083
GRCh38:
Chr15:42977885
UBR1V1405Inot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:43270131
GRCh38:
Chr15:42977933
UBR1I1389Lnot providedLikely benign
(Aug 20, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr15:43276101
GRCh38:
Chr15:42983903
UBR1not providedBenign
(Oct 31, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:43276107
GRCh38:
Chr15:42983909
UBR1R1380Cnot providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr15:43276113
GRCh38:
Chr15:42983915
UBR1L1378Vnot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr15:43276138
GRCh38:
Chr15:42983940
UBR1C1369*Johanson-Blizzard syndromePathogenic
(Sep 30, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr15:43276168
GRCh38:
Chr15:42983970
UBR1M1359Inot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr15:43276193
GRCh38:
Chr15:42983995
UBR1Johanson-Blizzard syndromePathogenic
(Apr 29, 2021)
no assertion criteria provided
81.
GRCh37:
Chr15:43276195
GRCh38:
Chr15:42983997
UBR1not specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr15:43277094
GRCh38:
Chr15:42984896
UBR1not providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr15:43277133
GRCh38:
Chr15:42984935
UBR1not providedLikely benign
(Mar 4, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr15:43277145-43277147
GRCh38:
Chr15:42984947-42984949
UBR1not providedConflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr15:43277150
GRCh38:
Chr15:42984952
UBR1not providedLikely benign
(Mar 9, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr15:43277150-43277151
GRCh38:
Chr15:42984952-42984953
UBR1not providedBenign
(Oct 27, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr15:43277155
GRCh38:
Chr15:42984957
UBR1not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr15:43280857
GRCh38:
Chr15:42988659
UBR1not providedBenign
(May 25, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr15:43281007
GRCh38:
Chr15:42988809
UBR1not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr15:43281019
GRCh38:
Chr15:42988821
UBR1I1332Tnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:43281039
GRCh38:
Chr15:42988841
UBR1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr15:43281067
GRCh38:
Chr15:42988869
UBR1R1316Qnot providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr15:43281113
GRCh38:
Chr15:42988915
UBR1I1301VInborn genetic diseasesUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr15:43281131
GRCh38:
Chr15:42988933
UBR1I1295VInborn genetic diseasesUncertain significance
(Aug 22, 2023)
criteria provided, single submitter
95.
GRCh37:
Chr15:43281141
GRCh38:
Chr15:42988943
UBR1not providedBenign
(Oct 31, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr15:43281179
GRCh38:
Chr15:42988981
UBR1not providedLikely benign
(Oct 25, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr15:43281391
GRCh38:
Chr15:42989193
UBR1not providedBenign
(May 15, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr15:43282223
GRCh38:
Chr15:42990025
UBR1Johanson-Blizzard syndromeUncertain significance
(Apr 6, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr15:43282227
GRCh38:
Chr15:42990029
UBR1Inborn genetic diseasesLikely pathogenic
(Jan 29, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr15:43282228
GRCh38:
Chr15:42990030
UBR1S1283Lnot providedUncertain significance
(Sep 1, 2023)
criteria provided, single submitter
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