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Items: 1 to 100 of 520

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
2.
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
3.
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
4.
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
5.
RB1RetinoblastomaPathogenic
(Nov 1, 1989)
no assertion criteria provided
6.
GRCh37:
Chr1:45796937
GRCh38:
Chr1:45331265
MUTYHMYH-associated polyposis, Retinoblastoma, not specified,
not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 2, 2019)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:29448384
GRCh38:
Chr2:29225518
ALKRetinoblastoma, Neuroblastoma 3Uncertain significance
(Feb 19, 2018)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:12660190
GRCh38:
Chr3:12618691
RAF1RetinoblastomaUncertain significance
(Mar 7, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr4:128292216-128915201
GRCh38:
Chr4:127371061-127994046
PLK4, HSPA4L, INTU, ABHD18, SLC25A31, MFSD8See casesUncertain significance
(Apr 14, 2011)
no assertion criteria provided
10.
GRCh37:
Chr5:112178400
GRCh38:
Chr5:112842703
APCRetinoblastoma, Familial adenomatous polyposis 1, not specified,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Mar 2, 2018)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr9:21970966
GRCh38:
Chr9:21970967
CDKN2ARetinoblastomaUncertain significance
(Sep 26, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:98209235
GRCh38:
Chr9:95446953
PTCH1Retinoblastoma, not specifiedUncertain significance
(Mar 11, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:98242290
GRCh38:
Chr9:95480008
PTCH1RetinoblastomaUncertain significance
(Sep 26, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:98268874
GRCh38:
Chr9:95506592
PTCH1RetinoblastomaUncertain significance
(Mar 7, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr13:32900681
GRCh38:
Chr13:32326544
BRCA2Retinoblastoma, Hereditary breast and ovarian cancer syndrome, not provided,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Jul 2, 2018)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr13:32953905
GRCh38:
Chr13:32379768
BRCA2Breast-ovarian cancer, familial 2, Retinoblastoma, Hereditary breast and ovarian cancer syndrome,
not specified, not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 15, 2018)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr13:32954178
GRCh38:
Chr13:32380041
BRCA2Breast-ovarian cancer, familial 2, Ateleiotic dwarfismPathogenic
(Sep 8, 2016)
reviewed by expert panel
18.
GRCh37:
Chr13:48877851
GRCh38:
Chr13:48303715
RB1Retinoblastoma, Hereditary cancer-predisposing syndromePathogenic
(Jun 5, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr13:48877860
GRCh38:
Chr13:48303724
RB1RetinoblastomaPathogenic
(Sep 5, 1991)
no assertion criteria provided
20.
GRCh37:
Chr13:48877893
GRCh38:
Chr13:48303757
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr13:48877896
GRCh38:
Chr13:48303760
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr13:48877968
GRCh38:
Chr13:48303832
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr13:48877980
GRCh38:
Chr13:48303844
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr13:48878061
GRCh38:
Chr13:48303925
RB1RetinoblastomaUncertain significance
(Dec 21, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr13:48878064
GRCh38:
Chr13:48303928
RB1Retinoblastoma, not providedUncertain significance
(Jun 25, 2018)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr13:48878078
GRCh38:
Chr13:48303942
RB1RetinoblastomaLikely benign
(Jul 17, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr13:48878078
GRCh38:
Chr13:48303942
RB1RetinoblastomaLikely benign
(Jun 23, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr13:48878079
GRCh38:
Chr13:48303943
RB1RetinoblastomaUncertain significance
(Sep 16, 2013)
no assertion criteria provided
29.
GRCh37:
Chr13:48878080
GRCh38:
Chr13:48303944
RB1RetinoblastomaUncertain significance
(Nov 2, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr13:48878082
GRCh38:
Chr13:48303946
RB1RetinoblastomaUncertain significance
(Mar 7, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr13:48878082-48878090
GRCh38:
Chr13:48303946-48303954
RB1RetinoblastomaUncertain significance
(Sep 5, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr13:48878084
GRCh38:
Chr13:48303948
RB1RetinoblastomaPathogenic
(Jun 4, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr13:48878085-48878113
GRCh38:
Chr13:48303949-48303977
RB1RetinoblastomaPathogenic
(May 25, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr13:48878090
GRCh38:
Chr13:48303954
RB1Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Jan 9, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr13:48878091-48878113
GRCh38:
Chr13:48303955-48303977
RB1RetinoblastomaPathogenic
(Feb 1, 2007)
no assertion criteria provided
36.
GRCh37:
Chr13:48878092
GRCh38:
Chr13:48303956
RB1RetinoblastomaUncertain significance
(Feb 14, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr13:48878093-48878118
GRCh38:
Chr13:48303957-48303982
RB1RetinoblastomaPathogenic
(Apr 27, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr13:48878093-48878101
GRCh38:
Chr13:48303957-48303965
RB1Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome
Benign
(Jan 10, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr13:48878100
GRCh38:
Chr13:48303964
RB1Retinoblastoma, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Nov 13, 2017)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr13:48878102-48878121
GRCh38:
Chr13:48303966-48303985
RB1RetinoblastomaPathogenic
(Jun 13, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr13:48878102-48878124
GRCh38:
Chr13:48303966-48303988
RB1Retinoblastoma, Hereditary cancer-predisposing syndromePathogenic
(Jun 21, 2018)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr13:48878102-48878127
GRCh38:
Chr13:48303966-48303991
RB1RetinoblastomaPathogenic
(Mar 19, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr13:48878107
GRCh38:
Chr13:48303971
RB1Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jul 2, 2018)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr13:48878110
GRCh38:
Chr13:48303974
RB1RetinoblastomaUncertain significance
(Jul 2, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr13:48878114
GRCh38:
Chr13:48303978
RB1RetinoblastomaLikely benign
(Oct 8, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr13:48878114
GRCh38:
Chr13:48303978
RB1RetinoblastomaLikely benign
(Nov 10, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr13:48878126-48878131
GRCh38:
Chr13:48303990-48303995
RB1RetinoblastomaUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr13:48878126-48878128
GRCh38:
Chr13:48303990-48303992
RB1Retinoblastoma, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Aug 23, 2017)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr13:48878129
GRCh38:
Chr13:48303993
RB1RetinoblastomaLikely benign
(Aug 11, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr13:48878131
GRCh38:
Chr13:48303995
RB1RetinoblastomaPathogenic
(Jun 8, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr13:48878131
GRCh38:
Chr13:48303995
RB1RetinoblastomaUncertain significance
(Apr 9, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr13:48878131
GRCh38:
Chr13:48303995
RB1RetinoblastomaUncertain significance
(May 8, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr13:48878140
GRCh38:
Chr13:48304004
RB1RetinoblastomaPathogenic
(Aug 5, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr13:48878146
GRCh38:
Chr13:48304010
RB1RetinoblastomaUncertain significance
(May 7, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr13:48878151
GRCh38:
Chr13:48304015
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
56.
GRCh37:
Chr13:48878152
GRCh38:
Chr13:48304016
RB1RetinoblastomaUncertain significance
(Apr 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr13:48878154
GRCh38:
Chr13:48304018
RB1RetinoblastomaUncertain significance
(May 18, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr13:48878157
GRCh38:
Chr13:48304021
RB1RetinoblastomaUncertain significance
(Jun 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr13:48878157
GRCh38:
Chr13:48304021
RB1RetinoblastomaUncertain significance
(Nov 1, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr13:48878161
GRCh38:
Chr13:48304025
RB1Retinoblastoma, Hereditary cancer-predisposing syndromeBenign/Likely benign
(Dec 22, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr13:48878161-48878163
GRCh38:
Chr13:48304025-48304027
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
62.
GRCh37:
Chr13:48878162
GRCh38:
Chr13:48304026
RB1RetinoblastomaLikely benign
(Dec 4, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr13:48878164
GRCh38:
Chr13:48304028
RB1RetinoblastomaUncertain significance
(Jan 9, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr13:48878191
GRCh38:
Chr13:48304055
RB1RetinoblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr13:48878191
GRCh38:
Chr13:48304055
RB1RetinoblastomaUncertain significance
(Jul 12, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr13:48881408
GRCh38:
Chr13:48307272
RB1RetinoblastomaLikely benign
(Nov 16, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr13:48881412
GRCh38:
Chr13:48307276
RB1RetinoblastomaLikely benign
(Dec 22, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr13:48881426
GRCh38:
Chr13:48307290
RB1RetinoblastomaUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr13:48881433
GRCh38:
Chr13:48307297
RB1RetinoblastomaUncertain significance
(Apr 6, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr13:48881451
GRCh38:
Chr13:48307315
RB1Retinoblastoma, not specifiedUncertain significance
(May 4, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr13:48881458
GRCh38:
Chr13:48307322
RB1RetinoblastomaLikely benign
(Sep 27, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr13:48881495
GRCh38:
Chr13:48307359
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
73.
GRCh37:
Chr13:48881497-48881498
GRCh38:
Chr13:48307361-48307362
RB1Retinoblastoma, Hereditary cancer-predisposing syndromePathogenic
(Apr 13, 2018)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr13:48881499
GRCh38:
Chr13:48307363
RB1RetinoblastomaUncertain significance
(Feb 21, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr13:48881505-48881506
GRCh38:
Chr13:48307369-48307370
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
76.
GRCh37:
Chr13:48881513
GRCh38:
Chr13:48307377
RB1RetinoblastomaUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr13:48881516
GRCh38:
Chr13:48307380
RB1RetinoblastomaUncertain significance
(Nov 11, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr13:48881541
GRCh38:
Chr13:48307405
RB1RetinoblastomaUncertain significance
(Aug 14, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr13:48916729-48916731
GRCh38:
Chr13:48342593-48342595
RB1RetinoblastomaUncertain significance
(Apr 9, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr13:48916739
GRCh38:
Chr13:48342603
RB1Osteosarcoma, Bladder cancer, somatic, Small cell lung cancer,
Retinoblastoma
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr13:48916743
GRCh38:
Chr13:48342607
RB1RetinoblastomaLikely benign
(Sep 17, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr13:48916746
GRCh38:
Chr13:48342610
RB1Osteosarcoma, Bladder cancer, somatic, Small cell lung cancer,
Retinoblastoma
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr13:48916753
GRCh38:
Chr13:48342617
RB1RetinoblastomaPathogenic
(Dec 27, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr13:48916755
GRCh38:
Chr13:48342619
RB1RetinoblastomaLikely benign
(May 26, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr13:48916767-48916768
GRCh38:
Chr13:48342631-48342632
RB1RetinoblastomaPathogenic
(Apr 24, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr13:48916769
GRCh38:
Chr13:48342633
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr13:48916771
GRCh38:
Chr13:48342635
RB1RetinoblastomaUncertain significance
(Oct 31, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr13:48916775-48916776
GRCh38:
Chr13:48342639-48342640
RB1RetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria provided
89.
GRCh37:
Chr13:48916811
GRCh38:
Chr13:48342675
RB1RetinoblastomaUncertain significance
(Aug 31, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr13:48916812
GRCh38:
Chr13:48342676
RB1RetinoblastomaLikely benign
(Jun 2, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr13:48916813
GRCh38:
Chr13:48342677
RB1RetinoblastomaUncertain significance
(Jul 31, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr13:48916826
GRCh38:
Chr13:48342690
RB1RetinoblastomaUncertain significance
(Jan 13, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr13:48916837
GRCh38:
Chr13:48342701
RB1Retinoblastoma, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Dec 27, 2017)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr13:48916840
GRCh38:
Chr13:48342704
RB1RetinoblastomaUncertain significance
(Feb 19, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr13:48916841-48916842
GRCh38:
Chr13:48342705-48342706
RB1RetinoblastomaPathogenic
(Mar 7, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr13:48916846
GRCh38:
Chr13:48342710
RB1Retinoblastoma, not providedPathogenic
(Jun 20, 2017)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr13:48916853
GRCh38:
Chr13:48342717
RB1RetinoblastomaPathogenic
(Jan 4, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr13:48916860
GRCh38:
Chr13:48342724
RB1Retinoblastoma, not specifiedBenign/Likely benign
(Jan 16, 2018)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr13:48916862
GRCh38:
Chr13:48342726
RB1Retinoblastoma, not specified, not provided
Benign/Likely benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr13:48919215
GRCh38:
Chr13:48345079
RB1RetinoblastomaPathogenic
(Jun 10, 2016)
criteria provided, single submitter
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