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Items: 1 to 100 of 909

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:45796937
GRCh38:
Chr1:45331265
MUTYHP465A, P451A, P345A, P437A, P438A, P322A, P452A, P448A, P462ARetinoblastoma, not specified, not provided,
Hereditary cancer-predisposing syndrome, MYH-associated polyposis
Uncertain significance
(Sep 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000141925
2.
GRCh37:
Chr2:29448384
GRCh38:
Chr2:29225518
ALKV1039MRetinoblastoma, Neuroblastoma 3Uncertain significance
(Dec 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000404367
3.
GRCh37:
Chr5:112178400
GRCh38:
Chr5:112842703
APCG2352V, G2370V, G2087V, G2269V, G2388V, G2210V, G2311V, G2329V, G2342V, G2380V, G2244V, G2345V, G2279Vnot specified, Hereditary cancer-predisposing syndrome, Retinoblastoma,
Familial adenomatous polyposis 1
Conflicting interpretations of pathogenicity
(Jun 26, 2020)
criteria provided, conflicting interpretationsVCV000236640
4.
GRCh37:
Chr9:21970966
GRCh38:
Chr9:21970967
CDKN2AR131H, R80HRetinoblastomaUncertain significance
(Sep 26, 2016)
criteria provided, single submitterVCV000620615
5.
GRCh37:
Chr9:98209235
GRCh38:
Chr9:95446953
PTCH1V1369M, V1435M, V1383M, V1434M, V1284MHereditary cancer-predisposing syndrome, Retinoblastoma, Gorlin syndrome,
not specified
Uncertain significance
(Dec 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000135107
6.
GRCh37:
Chr9:98242290
GRCh38:
Chr9:95480008
PTCH1V277A, V343A, V342A, V192ARetinoblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000620620
7.
GRCh37:
Chr9:98268874
GRCh38:
Chr9:95506592
PTCH1A4V, A70V, A69VGorlin syndrome, RetinoblastomaUncertain significance
(Feb 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000620617
8.
GRCh37:
Chr13:32900681
GRCh38:
Chr13:32326544
BRCA2V188Mnot provided, Hereditary breast and ovarian cancer syndrome, Retinoblastoma,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Feb 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000441524
9.
GRCh37:
Chr13:32953905
GRCh38:
Chr13:32379768
BRCA2R2991HBreast-ovarian cancer, familial 2, not specified, Retinoblastoma,
Hereditary breast and ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000038200
10.
GRCh37:
Chr13:48877851
GRCh38:
Chr13:48303715
RB1Hereditary cancer-predisposing syndrome, RetinoblastomaPathogenic
(Jan 24, 2019)
criteria provided, single submitterVCV000013086
11.
GRCh37:
Chr13:48877860
GRCh38:
Chr13:48303724
RB1RetinoblastomaPathogenic
(Sep 5, 1991)
no assertion criteria providedVCV000013085
12.
GRCh37:
Chr13:48877893
GRCh38:
Chr13:48303757
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000312278
13.
GRCh37:
Chr13:48877894
GRCh38:
Chr13:48303758
RB1RetinoblastomaUncertain significance
(Apr 6, 2018)
criteria provided, single submitterVCV000882643
14.
GRCh37:
Chr13:48877896
GRCh38:
Chr13:48303760
RB1RetinoblastomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000312279
15.
GRCh37:
Chr13:48877900
GRCh38:
Chr13:48303764
RB1RetinoblastomaUncertain significance
(Aug 27, 2020)
criteria provided, single submitterVCV000997629
16.
GRCh37:
Chr13:48877949
GRCh38:
Chr13:48303813
RB1RetinoblastomaUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000882644
17.
GRCh37:
Chr13:48877968
GRCh38:
Chr13:48303832
RB1RetinoblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000312280
18.
GRCh37:
Chr13:48877980
GRCh38:
Chr13:48303844
RB1not provided, RetinoblastomaConflicting interpretations of pathogenicity
(Sep 4, 2018)
criteria provided, conflicting interpretationsVCV000312281
19.
GRCh37:
Chr13:48878039-48881552
GRCh38:
Chr13:48303903-48307416
RB1RetinoblastomaPathogenic
(Aug 11, 2018)
criteria provided, single submitterVCV000645883
20.
GRCh37:
Chr13:48878039-49054217
GRCh38:
Chr13:48303903-48480081
RB1, LPAR6RetinoblastomaPathogenic
(Nov 8, 2019)
criteria provided, single submitterVCV000583677
21.
GRCh37:
Chr13:48878043-49054213
GRCh38:
Chr13:48303907-48480077
RB1, LPAR6RetinoblastomaPathogenic
(Mar 12, 2018)
criteria provided, single submitterVCV000527953
22.
GRCh37:
Chr13:48878052
GRCh38:
Chr13:48303916
RB1P2TRetinoblastomaUncertain significance
(Sep 6, 2019)
criteria provided, single submitterVCV000956496
23.
GRCh37:
Chr13:48878059
GRCh38:
Chr13:48303923
RB1K4RRetinoblastomaUncertain significance
(Mar 8, 2019)
criteria provided, single submitterVCV000852967
24.
GRCh37:
Chr13:48878061
GRCh38:
Chr13:48303925
RB1T5ARetinoblastomaUncertain significance
(Mar 17, 2019)
criteria provided, single submitterVCV000860944
25.
GRCh37:
Chr13:48878061
GRCh38:
Chr13:48303925
RB1T5PRetinoblastomaUncertain significance
(Dec 21, 2017)
criteria provided, single submitterVCV000527924
26.
GRCh37:
Chr13:48878061-48878062
GRCh38:
Chr13:48303925-48303926
RB1R7fsHereditary cancer-predisposing syndrome, RetinoblastomaPathogenic
(Oct 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000428670
27.
GRCh37:
Chr13:48878062
GRCh38:
Chr13:48303926
RB1T5IRetinoblastomaUncertain significance
(Oct 2, 2019)
criteria provided, single submitterVCV000653621
28.
GRCh37:
Chr13:48878064
GRCh38:
Chr13:48303928
RB1P6Snot provided, RetinoblastomaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000285560
29.
GRCh37:
Chr13:48878066
GRCh38:
Chr13:48303930
RB1Hereditary cancer-predisposing syndrome, RetinoblastomaLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000706912
30.
GRCh37:
Chr13:48878067
GRCh38:
Chr13:48303931
RB1RetinoblastomaLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV000942011
31.
GRCh37:
Chr13:48878068
GRCh38:
Chr13:48303932
RB1R7QRetinoblastomaUncertain significance
(Oct 19, 2019)
criteria provided, single submitterVCV000938239
32.
GRCh37:
Chr13:48878076-48878084
GRCh38:
Chr13:48303940-48303948
RB1Hereditary cancer-predisposing syndrome, RetinoblastomaConflicting interpretations of pathogenicity
(Dec 1, 2019)
criteria provided, conflicting interpretationsVCV000410933
33.
GRCh37:
Chr13:48878077-48878108
GRCh38:
Chr13:48303941-48303972
RB1A11fsRetinoblastomaLikely pathogenic
(May 28, 2019)
criteria provided, single submitterVCV000802963
34.
GRCh37:
Chr13:48878078
GRCh38:
Chr13:48303942
RB1Retinoblastoma, Hereditary cancer-predisposing syndromeLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000458164
35.
GRCh37:
Chr13:48878078
GRCh38:
Chr13:48303942
RB1RetinoblastomaLikely benign
(Jun 23, 2017)
criteria provided, single submitterVCV000416488
36.
GRCh37:
Chr13:48878079
GRCh38:
Chr13:48303943
RB1A11SRetinoblastomaUncertain significance
(Sep 16, 2013)
no assertion criteria providedVCV000126816
37.
GRCh37:
Chr13:48878080
GRCh38:
Chr13:48303944
RB1A11GRetinoblastomaUncertain significance
(Nov 2, 2017)
criteria provided, single submitterVCV000527927
38.
GRCh37:
Chr13:48878081-48878112
GRCh38:
Chr13:48303945-48303976
RB1A17fsRetinoblastomaPathogenic
(Nov 16, 2018)
criteria provided, single submitterVCV000659361
39.
GRCh37:
Chr13:48878082
GRCh38:
Chr13:48303946
RB1T12ARetinoblastomaUncertain significance
(Oct 23, 2018)
criteria provided, single submitterVCV000664603
40.
GRCh37:
Chr13:48878082
GRCh38:
Chr13:48303946
RB1T12SHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Oct 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000580275
41.
GRCh37:
Chr13:48878083
GRCh38:
Chr13:48303947
RB1A13fsRetinoblastomaPathogenic
(Jun 4, 2018)
criteria provided, single submitterVCV000580945
42.
GRCh37:
Chr13:48878084-48878112
GRCh38:
Chr13:48303948-48303976
RB1A13fsRetinoblastomaPathogenic
(May 25, 2018)
criteria provided, single submitterVCV000410951
43.
GRCh37:
Chr13:48878085-48878093
GRCh38:
Chr13:48303949-48303957
RB1Hereditary cancer-predisposing syndrome, not specified, none provided,
Retinoblastoma
Benign
(May 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000193082
44.
GRCh37:
Chr13:48878087-48878088
GRCh38:
Chr13:48303951-48303952
RB1RetinoblastomaUncertain significance
(Nov 4, 2019)
criteria provided, single submitterVCV000853363
45.
GRCh37:
Chr13:48878088-48878089
GRCh38:
Chr13:48303952-48303953
RB1P24fsRetinoblastomaPathogenic
(Apr 27, 2018)
criteria provided, single submitterVCV000567591
46.
GRCh37:
Chr13:48878089-48878090
GRCh38:
Chr13:48303953-48303954
RB1P23fsRetinoblastomaPathogenic
(Feb 1, 2007)
no assertion criteria providedVCV000013095
47.
GRCh37:
Chr13:48878090
GRCh38:
Chr13:48303954
RB1Retinoblastoma, not provided, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000237673
48.
GRCh37:
Chr13:48878092
GRCh38:
Chr13:48303956
RB1A15GRetinoblastomaUncertain significance
(Feb 14, 2018)
criteria provided, single submitterVCV000571777
49.
GRCh37:
Chr13:48878093-48878094
GRCh38:
Chr13:48303957-48303958
RB1P26fsHereditary cancer-predisposing syndrome, RetinoblastomaPathogenic
(Oct 17, 2018)
criteria provided, multiple submitters, no conflictsVCV000428668
50.
GRCh37:
Chr13:48878094-48878096
GRCh38:
Chr13:48303958-48303960
RB1A18delRetinoblastomaUncertain significance
(Dec 12, 2019)
criteria provided, single submitterVCV000847451
51.
GRCh37:
Chr13:48878094-48878095
GRCh38:
Chr13:48303958-48303959
RB1P25fsRetinoblastomaPathogenic
(Jun 13, 2017)
criteria provided, single submitterVCV000458171
52.
GRCh37:
Chr13:48878100
GRCh38:
Chr13:48303964
RB1A18TRetinoblastomaUncertain significance
(Oct 29, 2018)
criteria provided, single submitterVCV000648128
53.
GRCh37:
Chr13:48878100
GRCh38:
Chr13:48303964
RB1A18SRetinoblastoma, Hereditary cancer-predisposing syndromeBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000237674
54.
GRCh37:
Chr13:48878106-48878118
GRCh38:
Chr13:48303970-48303982
RB1P20fsRetinoblastomaPathogenic
(Nov 16, 2019)
criteria provided, single submitterVCV000958244
55.
GRCh37:
Chr13:48878107
GRCh38:
Chr13:48303971
RB1P20LHereditary cancer-predisposing syndrome, Retinoblastoma, not specified
Conflicting interpretations of pathogenicity
(Apr 9, 2020)
criteria provided, conflicting interpretationsVCV000135115
56.
GRCh37:
Chr13:48878108
GRCh38:
Chr13:48303972
RB1RetinoblastomaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000796079
57.
GRCh37:
Chr13:48878110
GRCh38:
Chr13:48303974
RB1P21LRetinoblastomaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000576223
58.
GRCh37:
Chr13:48878111
GRCh38:
Chr13:48303975
RB1RetinoblastomaUncertain significance
(Sep 21, 2019)
criteria provided, single submitterVCV000954160
59.
GRCh37:
Chr13:48878114-48878115
GRCh38:
Chr13:48303978-48303979
RB1Hereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Jul 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000486294
60.
GRCh37:
Chr13:48878115
GRCh38:
Chr13:48303979
RB1P23TRetinoblastomaUncertain significance
(Jul 24, 2019)
criteria provided, single submitterVCV000949259
61.
GRCh37:
Chr13:48878115
GRCh38:
Chr13:48303979
RB1P23SRetinoblastomaUncertain significance
(Apr 26, 2019)
criteria provided, single submitterVCV000835973
62.
GRCh37:
Chr13:48878115-48878117
GRCh38:
Chr13:48303979-48303981
RB1P29delHereditary cancer-predisposing syndrome, RetinoblastomaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000410949
63.
GRCh37:
Chr13:48878116
GRCh38:
Chr13:48303980
RB1P23QRetinoblastomaUncertain significance
(Dec 17, 2019)
criteria provided, single submitterVCV000845766
64.
GRCh37:
Chr13:48878123-48878124
GRCh38:
Chr13:48303987-48303988
RB1RetinoblastomaUncertain significance
(Feb 25, 2019)
criteria provided, single submitterVCV000527901
65.
GRCh37:
Chr13:48878127
GRCh38:
Chr13:48303991
RB1P28fsRetinoblastomaPathogenic
(Sep 11, 2018)
criteria provided, single submitterVCV000580564
66.
GRCh37:
Chr13:48878128
GRCh38:
Chr13:48303992
RB1P27RRetinoblastomaUncertain significance
(Jun 4, 2019)
criteria provided, single submitterVCV000943645
67.
GRCh37:
Chr13:48878129
GRCh38:
Chr13:48303993
RB1RetinoblastomaLikely benign
(Aug 11, 2017)
criteria provided, single submitterVCV000458184
68.
GRCh37:
Chr13:48878131
GRCh38:
Chr13:48303995
RB1P28LRetinoblastomaUncertain significance
(Apr 9, 2018)
criteria provided, single submitterVCV000568297
69.
GRCh37:
Chr13:48878131
GRCh38:
Chr13:48303995
RB1P28RHereditary cancer-predisposing syndrome, RetinoblastomaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000410943
70.
GRCh37:
Chr13:48878134
GRCh38:
Chr13:48303998
RB1P29LRetinoblastomaUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000861822
71.
GRCh37:
Chr13:48878136
GRCh38:
Chr13:48304000
RB1E30QRetinoblastoma, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2019)
criteria provided, multiple submitters, no conflictsVCV000486285
72.
GRCh37:
Chr13:48878137
GRCh38:
Chr13:48304001
RB1E30AHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Mar 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000645423
73.
GRCh37:
Chr13:48878139-48878140
GRCh38:
Chr13:48304003-48304004
RB1D32fsRetinoblastomaPathogenic
(Aug 5, 2016)
criteria provided, single submitterVCV000590845
74.
GRCh37:
Chr13:48878142
GRCh38:
Chr13:48304006
RB1D32Nnot provided, RetinoblastomaUncertain significance
(Oct 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000639029
75.
GRCh37:
Chr13:48878143-48878144
GRCh38:
Chr13:48304007-48304008
RB1E34fsRetinoblastomaPathogenic
(May 17, 2019)
criteria provided, single submitterVCV000845216
76.
GRCh37:
Chr13:48878146
GRCh38:
Chr13:48304010
RB1P33LRetinoblastomaUncertain significance
(May 7, 2018)
criteria provided, single submitterVCV000572128
77.
GRCh37:
Chr13:48878151
GRCh38:
Chr13:48304015
RB1Q35*RetinoblastomaPathogenic
(Aug 22, 2019)
criteria provided, single submitterVCV000126818
78.
GRCh37:
Chr13:48878152
GRCh38:
Chr13:48304016
RB1Q35LRetinoblastoma, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000577029
79.
GRCh37:
Chr13:48878154
GRCh38:
Chr13:48304018
RB1D36NRetinoblastoma, Hereditary cancer-predisposing syndromeLikely benign
(Aug 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000458113
80.
GRCh37:
Chr13:48878157
GRCh38:
Chr13:48304021
RB1S37GRetinoblastoma, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000527919
81.
GRCh37:
Chr13:48878157
GRCh38:
Chr13:48304021
RB1S37RRetinoblastomaUncertain significance
(Nov 1, 2017)
criteria provided, single submitterVCV000527902
82.
GRCh37:
Chr13:48878161
GRCh38:
Chr13:48304025
RB1G38DHereditary cancer-predisposing syndrome, RetinoblastomaBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000410930
83.
GRCh37:
Chr13:48878161-48878163
GRCh38:
Chr13:48304025-48304027
RB1G38fsRetinoblastomaPathogenic
(Sep 16, 2013)
no assertion criteria providedVCV000126819
84.
GRCh37:
Chr13:48878162
GRCh38:
Chr13:48304026
RB1Hereditary cancer-predisposing syndrome, RetinoblastomaLikely benign
(Apr 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000527951
85.
GRCh37:
Chr13:48878164
GRCh38:
Chr13:48304028
RB1P39LHereditary cancer-predisposing syndrome, RetinoblastomaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000527911
86.
GRCh37:
Chr13:48878166
GRCh38:
Chr13:48304030
RB1E40KRetinoblastomaUncertain significance
(Dec 4, 2018)
criteria provided, single submitterVCV000654914
87.
GRCh37:
Chr13:48878172
GRCh38:
Chr13:48304036
RB1L42MRetinoblastomaUncertain significance
(May 9, 2019)
criteria provided, single submitterVCV000853974
88.
GRCh37:
Chr13:48878172
GRCh38:
Chr13:48304036
RB1L42VRetinoblastomaUncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000802964
89.
GRCh37:
Chr13:48878173
GRCh38:
Chr13:48304037
RB1L42QRetinoblastomaUncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000643222
90.
GRCh37:
Chr13:48878178
GRCh38:
Chr13:48304042
RB1L44IRetinoblastomaUncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000653263
91.
GRCh37:
Chr13:48878191
GRCh38:
Chr13:48304055
RB1RetinoblastomaUncertain significance
(Dec 27, 2019)
criteria provided, single submitterVCV000574592
92.
GRCh37:
Chr13:48878191
GRCh38:
Chr13:48304055
RB1RetinoblastomaLikely benign
(Dec 1, 2020)
criteria provided, single submitterVCV000458122
93.
GRCh37:
Chr13:48878198
GRCh38:
Chr13:48304062
RB1RetinoblastomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000882645
94.
GRCh37:
Chr13:48881406-48923169
GRCh38:
Chr13:48307270-48349033
RB1RetinoblastomaPathogenic
(Oct 16, 2018)
criteria provided, single submitterVCV000654679
95.
GRCh37:
Chr13:48881408
GRCh38:
Chr13:48307272
RB1RetinoblastomaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000416504
96.
GRCh37:
Chr13:48881410-48923165
GRCh38:
Chr13:48307274-48349029
RB1RetinoblastomaPathogenic
(Mar 9, 2017)
criteria provided, single submitterVCV000458111
97.
GRCh37:
Chr13:48881417
GRCh38:
Chr13:48307281
RB1L47FRetinoblastomaUncertain significance
(Dec 16, 2019)
criteria provided, single submitterVCV000835394
98.
GRCh37:
Chr13:48881426
GRCh38:
Chr13:48307290
RB1E50QRetinoblastomaUncertain significance
(Dec 17, 2019)
criteria provided, single submitterVCV000410937
99.
GRCh37:
Chr13:48881433
GRCh38:
Chr13:48307297
RB1T52IHereditary cancer-predisposing syndrome, RetinoblastomaUncertain significance
(Oct 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000568481
100.
GRCh37:
Chr13:48881434-48881436
GRCh38:
Chr13:48307298-48307300
RB1E54delRetinoblastomaUncertain significance
(Jun 5, 2019)
criteria provided, single submitterVCV000935662
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