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Links from MedGen

Items: 1 to 100 of 2123

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:48937079
GRCh38:
Chr13:48362943
RB1C283RRetinoblastomaUncertain significance
(Oct 18, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr13:49031801-49037100
GRCh38:
Chr13:48457665-48462964
RB1RetinoblastomaPathogenic
(Nov 13, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr13:48878082-48878083
GRCh38:
Chr13:48303946-48303947
RB1P28fsRetinoblastomaPathogenic
(Aug 31, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr13:49039249
GRCh38:
Chr13:48465113
RB1RetinoblastomaLikely pathogeniccriteria provided, single submitter
5.
GRCh37:
Chr13:48878058
GRCh38:
Chr13:48303922
RB1T5fsRetinoblastomaPathogenic
(Nov 15, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr13:48954285
GRCh38:
Chr13:48380149
RB1RetinoblastomaBenign
(Jul 7, 2023)
criteria provided, single submitter
7.
GRCh38:
Chr13:48194644-48318494
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DTRetinoblastomaPathogenic
(Feb 15, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr13:48936954
GRCh38:
Chr13:48362818
RB1T241fsRetinoblastomaUncertain significance
(Nov 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr13:49039418
GRCh38:
Chr13:48465282
RB1N803fsRetinoblastomaUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr13:49030417
GRCh38:
Chr13:48456281
RB1A632fsRetinoblastomaUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr13:48939032-48939033
GRCh38:
Chr13:48364896-48364897
RB1N290fsRetinoblastomaUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr13:48877837-48881552
RB1RetinoblastomaPathogenic
(Sep 8, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr13:49039232-49040694
RB1RetinoblastomaPathogenic
(Mar 10, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr13:49046098-49054207
RB1RetinoblastomaUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr13:48919206-48923169
RB1RetinoblastomaPathogenic
(Jul 27, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr13:48919196-48955599
RB1RetinoblastomaPathogenic
(May 17, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr13:48916725-48922009
RB1RetinoblastomaPathogenic
(Feb 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr13:49046098-49054207
RB1RetinoblastomaPathogenic
(Dec 22, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr13:48954189-48954377
RB1RetinoblastomaPathogenic
(Feb 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr13:48953730-48954377
RB1RetinoblastomaPathogenic
(Mar 23, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr13:48951044-48955589
RB1RetinoblastomaPathogenic
(Aug 6, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr13:48947531-48955589
RB1RetinoblastomaPathogenic
(Aug 9, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr13:48615046-48930735
ITM2B, MED4, NUDT15, RB1RetinoblastomaUncertain significance
(May 14, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr13:49046098-49047536
RB1RetinoblastomaPathogenic
(Oct 14, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr13:49030491
GRCh38:
Chr13:48456355
RB1RetinoblastomaUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr13:48936995
GRCh38:
Chr13:48362859
RB1RetinoblastomaLikely benign
(Aug 31, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr13:48937005
GRCh38:
Chr13:48362869
RB1N258SRetinoblastomaUncertain significance
(Aug 18, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr13:48947524
GRCh38:
Chr13:48373388
RB1RetinoblastomaLikely benign
(May 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr13:49051557
GRCh38:
Chr13:48477421
RB1RetinoblastomaLikely benign
(May 5, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr13:48947591
GRCh38:
Chr13:48373455
RB1S393NRetinoblastomaUncertain significance
(May 1, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr13:48953802
GRCh38:
Chr13:48379666
RB1RetinoblastomaLikely benign
(Oct 26, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr13:48951037-48951038
GRCh38:
Chr13:48376901-48376902
RB1RetinoblastomaUncertain significance
(May 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr13:49033831
GRCh38:
Chr13:48459695
RB1RetinoblastomaLikely benign
(Oct 4, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr13:49030388
GRCh38:
Chr13:48456252
RB1RetinoblastomaBenign
(Jun 13, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr13:49030422
GRCh38:
Chr13:48456286
RB1T633ARetinoblastomaUncertain significance
(May 26, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr13:48951113
GRCh38:
Chr13:48376977
RB1I425MHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Mar 19, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr13:49039403
GRCh38:
Chr13:48465267
RB1RetinoblastomaLikely benign
(Jun 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr13:48922000
GRCh38:
Chr13:48347864
RB1RetinoblastomaLikely pathogenic
(Mar 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr13:49039463-49039465
GRCh38:
Chr13:48465327-48465329
RB1E817delRetinoblastomaUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr13:48941661
GRCh38:
Chr13:48367525
RB1I324TRetinoblastomaUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr13:49037884
GRCh38:
Chr13:48463748
RB1M708IRetinoblastomaUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr13:49039203
GRCh38:
Chr13:48465067
RB1M761LRetinoblastomaUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr13:48955545
GRCh38:
Chr13:48381409
RB1E554GHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Apr 6, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr13:49030467
GRCh38:
Chr13:48456331
RB1S648TRetinoblastomaUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr13:48955577
GRCh38:
Chr13:48381441
RB1S565PRetinoblastomaUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr13:48919277
GRCh38:
Chr13:48345141
RB1M148VRetinoblastomaUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr13:48934141
GRCh38:
Chr13:48360005
RB1RetinoblastomaLikely benign
(Aug 16, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr13:49039175
GRCh38:
Chr13:48465039
RB1RetinoblastomaLikely benign
(May 14, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr13:49030389
GRCh38:
Chr13:48456253
RB1V622LRetinoblastomaUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr13:48951089
GRCh38:
Chr13:48376953
RB1RetinoblastomaLikely benign
(Jun 29, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr13:48878178
GRCh38:
Chr13:48304042
RB1L44FRetinoblastomaUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr13:48881399
GRCh38:
Chr13:48307263
RB1RetinoblastomaLikely benign
(Mar 29, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr13:49050827
GRCh38:
Chr13:48476691
RB1RetinoblastomaUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr13:48934224
GRCh38:
Chr13:48360088
RB1I227VHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(May 3, 2023)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr13:48942758
GRCh38:
Chr13:48368622
RB1RetinoblastomaLikely benign
(Sep 27, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr13:49039522
GRCh38:
Chr13:48465386
RB1RetinoblastomaLikely benign
(Mar 13, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr13:49037852
GRCh38:
Chr13:48463716
RB1RetinoblastomaLikely benign
(Dec 2, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr13:49054120
GRCh38:
Chr13:48479984
RB1H907YRetinoblastomaLikely benign
(Feb 17, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr13:49033985
GRCh38:
Chr13:48459849
RB1RetinoblastomaLikely benign
(Oct 8, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr13:48923079
GRCh38:
Chr13:48348943
RB1RetinoblastomaLikely benign
(Apr 7, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr13:48954328
GRCh38:
Chr13:48380192
RB1RetinoblastomaLikely benign
(May 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr13:49050899
GRCh38:
Chr13:48476763
RB1RetinoblastomaLikely benign
(Jun 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr13:49051474-49051475
GRCh38:
Chr13:48477338-48477339
RB1RetinoblastomaBenign
(Jun 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr13:48951104
GRCh38:
Chr13:48376968
RB1I422MRetinoblastomaUncertain significance
(Jan 23, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr13:49039366
GRCh38:
Chr13:48465230
RB1H784LRetinoblastomaUncertain significance
(May 28, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr13:48941688
GRCh38:
Chr13:48367552
RB1A333ERetinoblastomaUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr13:49030500-49030505
GRCh38:
Chr13:48456364-48456369
RB1RetinoblastomaLikely benign
(Jul 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr13:48955459
GRCh38:
Chr13:48381323
RB1RetinoblastomaLikely benign
(Oct 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr13:48881462
GRCh38:
Chr13:48307326
RB1Q62KRetinoblastomaUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr13:48954207
GRCh38:
Chr13:48380071
RB1I470FRetinoblastomaUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr13:48921990
GRCh38:
Chr13:48347854
RB1P177LRetinoblastomaUncertain significance
(May 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr13:48937098
GRCh38:
Chr13:48362962
RB1RetinoblastomaLikely benign
(Aug 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr13:48951168
GRCh38:
Chr13:48377032
RB1Q444KRetinoblastomaUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr13:48922002
GRCh38:
Chr13:48347866
RB1RetinoblastomaUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr13:48916798
GRCh38:
Chr13:48342662
RB1L110VRetinoblastomaUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr13:48916841
GRCh38:
Chr13:48342705
RB1I124THereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Jul 5, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr13:49051505
GRCh38:
Chr13:48477369
RB1G893V, G43VRetinoblastomaUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr13:48881536
GRCh38:
Chr13:48307400
RB1RetinoblastomaLikely benign
(Aug 23, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr13:49054115-49054117
GRCh38:
Chr13:48479979-48479981
RB1L906delRetinoblastomaUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr13:48947621
GRCh38:
Chr13:48373485
RB1Y403CHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Jan 7, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr13:48955422
GRCh38:
Chr13:48381286
RB1S513FRetinoblastomaUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr13:48923072
GRCh38:
Chr13:48348936
RB1RetinoblastomaLikely benign
(May 10, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr13:48955574
GRCh38:
Chr13:48381438
RB1L564FRetinoblastomaUncertain significance
(Jan 23, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr13:48937030
GRCh38:
Chr13:48362894
RB1RetinoblastomaLikely benign
(Dec 29, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr13:48916721
GRCh38:
Chr13:48342585
RB1RetinoblastomaLikely benign
(Oct 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr13:49039337
GRCh38:
Chr13:48465201
RB1RetinoblastomaLikely benign
(Feb 2, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr13:48923106
GRCh38:
Chr13:48348970
RB1I185RHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr13:48934273
GRCh38:
Chr13:48360137
RB1RetinoblastomaLikely benign
(Jul 18, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr13:48878197
GRCh38:
Chr13:48304061
RB1RetinoblastomaLikely benign
(Jul 22, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr13:49027209-49027210
GRCh38:
Chr13:48453073-48453074
RB1N593fsRetinoblastomaPathogenic
(Oct 2, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr13:48955580
GRCh38:
Chr13:48381444
RB1V566LRetinoblastomaPathogenic
(Sep 23, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr13:48955471
GRCh38:
Chr13:48381335
RB1Y529*RetinoblastomaPathogenic
(Jul 20, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr13:48955452
GRCh38:
Chr13:48381316
RB1L523*RetinoblastomaPathogenic
(May 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr13:48954381
GRCh38:
Chr13:48380245
RB1RetinoblastomaUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr13:48953752
GRCh38:
Chr13:48379616
RB1L452*RetinoblastomaPathogenic
(Feb 19, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr13:48947603
GRCh38:
Chr13:48373467
RB1S397*RetinoblastomaPathogenic
(Aug 20, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr13:48939106
GRCh38:
Chr13:48364970
RB1E313GRetinoblastomaUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr13:48937094
GRCh38:
Chr13:48362958
RB1RetinoblastomaPathogenic
(Sep 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr13:48934189
GRCh38:
Chr13:48360053
RB1S215*RetinoblastomaPathogenic
(Sep 21, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr13:48934152
GRCh38:
Chr13:48360016
RB1RetinoblastomaPathogenic
(May 15, 2022)
criteria provided, single submitter
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