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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
FANCCFanconi anemiaPathogenic
(Jul 30, 2015)
criteria provided, single submitterVCV000219667
2.
FANCCFanconi anemia, complementation group CPathogenic
(Oct 8, 2010)
no assertion criteria providedVCV000012052
3.
GRCh37:
Chr9:97579146-99280739
GRCh38:
Chr9:94816864-96518457
Gorlin syndromePathogeniccriteria provided, single submitterVCV000217298
4.
GRCh37:
Chr9:97861437
GRCh38:
Chr9:95099155
FANCC, AOPEPFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367569
5.
GRCh37:
Chr9:97861461
GRCh38:
Chr9:95099179
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367570
6.
GRCh37:
Chr9:97861684
GRCh38:
Chr9:95099402
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367571
7.
GRCh37:
Chr9:97861693
GRCh38:
Chr9:95099411
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367572
8.
GRCh37:
Chr9:97861718
GRCh38:
Chr9:95099436
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367573
9.
GRCh37:
Chr9:97861861
GRCh38:
Chr9:95099579
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367574
10.
GRCh37:
Chr9:97861904
GRCh38:
Chr9:95099622
AOPEP, FANCCFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367575
11.
GRCh37:
Chr9:97861937
GRCh38:
Chr9:95099655
AOPEP, FANCCFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367576
12.
GRCh37:
Chr9:97862021
GRCh38:
Chr9:95099739
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367577
13.
GRCh37:
Chr9:97862094
GRCh38:
Chr9:95099812
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367579
14.
GRCh37:
Chr9:97862094
GRCh38:
Chr9:95099812
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367578
15.
GRCh37:
Chr9:97862110
GRCh38:
Chr9:95099828
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367580
16.
GRCh37:
Chr9:97862118
GRCh38:
Chr9:95099836
FANCC, AOPEPFanconi anemiaBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000367581
17.
GRCh37:
Chr9:97862262
GRCh38:
Chr9:95099980
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367582
18.
GRCh37:
Chr9:97862473
GRCh38:
Chr9:95100191
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367583
19.
GRCh37:
Chr9:97862494
GRCh38:
Chr9:95100212
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367584
20.
GRCh37:
Chr9:97862506
GRCh38:
Chr9:95100224
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367585
21.
GRCh37:
Chr9:97862630
GRCh38:
Chr9:95100348
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367586
22.
GRCh37:
Chr9:97862650
GRCh38:
Chr9:95100368
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367587
23.
GRCh37:
Chr9:97862657
GRCh38:
Chr9:95100375
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367588
24.
GRCh37:
Chr9:97862701
GRCh38:
Chr9:95100419
FANCC, AOPEPFanconi anemiaBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000367589
25.
GRCh37:
Chr9:97862713
GRCh38:
Chr9:95100431
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367590
26.
GRCh37:
Chr9:97862727
GRCh38:
Chr9:95100445
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367591
27.
GRCh37:
Chr9:97862944
GRCh38:
Chr9:95100662
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367592
28.
GRCh37:
Chr9:97863006
GRCh38:
Chr9:95100724
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367593
29.
GRCh37:
Chr9:97863105
GRCh38:
Chr9:95100823
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367594
30.
GRCh37:
Chr9:97863164
GRCh38:
Chr9:95100882
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367595
31.
GRCh37:
Chr9:97863263-97863266
GRCh38:
Chr9:95100981-95100984
FANCC, AOPEPFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367596
32.
GRCh37:
Chr9:97863322
GRCh38:
Chr9:95101040
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367597
33.
GRCh37:
Chr9:97863384-97863385
GRCh38:
Chr9:95101102-95101103
FANCC, AOPEPFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367598
34.
GRCh37:
Chr9:97863396
GRCh38:
Chr9:95101114
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367599
35.
GRCh37:
Chr9:97863473
GRCh38:
Chr9:95101191
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367601
36.
GRCh37:
Chr9:97863539
GRCh38:
Chr9:95101257
FANCC, AOPEPnot specified, Fanconi anemiaUncertain significance
(Apr 3, 2015)
criteria provided, multiple submitters, no conflictsVCV000210975
37.
GRCh37:
Chr9:97863630
GRCh38:
Chr9:95101348
FANCC, AOPEPFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367602
38.
GRCh37:
Chr9:97863651
GRCh38:
Chr9:95101369
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367603
39.
GRCh37:
Chr9:97863735
GRCh38:
Chr9:95101453
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367604
40.
GRCh37:
Chr9:97863740
GRCh38:
Chr9:95101458
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367605
41.
GRCh37:
Chr9:97863846
GRCh38:
Chr9:95101564
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367606
42.
GRCh37:
Chr9:97863873
GRCh38:
Chr9:95101591
FANCC, AOPEPFanconi anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000367607
43.
GRCh37:
Chr9:97863892
GRCh38:
Chr9:95101610
FANCC, AOPEPFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000367608
44.
GRCh37:
Chr9:97863947
GRCh38:
Chr9:95101665
FANCC, AOPEPnot specified, Fanconi anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000255272
45.
GRCh37:
Chr9:97863975
GRCh38:
Chr9:95101693
FANCC, AOPEPnot specifiedLikely benign
(Jun 8, 2017)
criteria provided, single submitterVCV000387109
46.
GRCh37:
Chr9:97863979
GRCh38:
Chr9:95101697
FANCC, AOPEPnot specifiedLikely benign
(Sep 28, 2016)
criteria provided, single submitterVCV000389719
47.
GRCh37:
Chr9:97863982
GRCh38:
Chr9:95101700
FANCC, AOPEPnot specifiedConflicting interpretations of pathogenicity
(Oct 16, 2015)
criteria provided, conflicting interpretationsVCV000377849
48.
GRCh37:
Chr9:97863984
GRCh38:
Chr9:95101702
FANCC, AOPEPnot specified, Fanconi anemia, Hereditary cancer-predisposing syndrome
Benign
(Sep 16, 2015)
criteria provided, multiple submitters, no conflictsVCV000137286
49.
GRCh37:
Chr9:97863991
GRCh38:
Chr9:95101710-95101714
FANCC, AOPEPFanconi anemia, complementation group CUncertain significance
(Jun 9, 2017)
criteria provided, single submitterVCV000552446
50.
GRCh37:
Chr9:97863994
GRCh38:
Chr9:95101712
FANCC, AOPEPV558FFanconi anemiaUncertain significance
(Feb 25, 2018)
criteria provided, single submitterVCV000565379
51.
GRCh37:
Chr9:97863997
GRCh38:
Chr9:95101715
FANCC, AOPEPQ557EFanconi anemiaUncertain significance
(May 12, 2015)
criteria provided, single submitterVCV000216286
52.
GRCh37:
Chr9:97864002
GRCh38:
Chr9:95101720
FANCC, AOPEPR555Qnot providedUncertain significance
(Mar 21, 2017)
criteria provided, single submitterVCV000449894
53.
GRCh37:
Chr9:97864003
GRCh38:
Chr9:95101721
FANCC, AOPEPR555*not provided, Fanconi anemia, complementation group CLikely pathogenic
(Jul 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000234905
54.
GRCh37:
Chr9:97864005
GRCh38:
Chr9:95101723
FANCC, AOPEPL554Pnot provided, Fanconi anemia, complementation group CPathogenic
(Feb 15, 1996)
criteria provided, single submitterVCV000012043
55.
GRCh37:
Chr9:97864023
GRCh38:
Chr9:95101741
FANCC, AOPEPR548Qnot provided, Fanconi anemiaUncertain significance
(Aug 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000182492
56.
GRCh37:
Chr9:97864024
GRCh38:
Chr9:95101742
FANCC, AOPEPR548*Hereditary cancer-predisposing syndrome, Tracheoesophageal fistula, Fanconi anemia, complementation group C,
not provided, Fanconi anemia, Fanconi anemia, complementation group C
Pathogenic/Likely pathogenic
(Sep 11, 1993)
criteria provided, multiple submitters, no conflictsVCV000012047
57.
GRCh37:
Chr9:97864032
GRCh38:
Chr9:95101750
FANCC, AOPEPK545Rnot provided, Fanconi anemiaUncertain significance
(Feb 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000234672
58.
GRCh37:
Chr9:97864033
GRCh38:
Chr9:95101751
FANCC, AOPEPK545Qnot providedUncertain significance
(Jul 15, 2015)
criteria provided, single submitterVCV000419421
59.
GRCh37:
Chr9:97864033
GRCh38:
Chr9:95101751
FANCC, AOPEPK545Enot providedUncertain significance
(Oct 9, 2017)
criteria provided, single submitterVCV000418879
60.
GRCh37:
Chr9:97864038
GRCh38:
Chr9:95101756
FANCC, AOPEPS543*not provided, Fanconi anemia, complementation group CLikely pathogenic
(Feb 3, 2016)
criteria provided, multiple submitters, no conflictsVCV000370412
61.
GRCh37:
Chr9:97864038-97864039
GRCh38:
Chr9:95101756-95101757
FANCC, AOPEPFanconi anemia, not specifiedUncertain significance
(Sep 11, 2015)
criteria provided, multiple submitters, no conflictsVCV000220199
62.
GRCh37:
Chr9:97864043
GRCh38:
Chr9:95101761
FANCC, AOPEPFanconi anemia, not specifiedLikely benign
(Mar 24, 2015)
criteria provided, multiple submitters, no conflictsVCV000215637
63.
GRCh37:
Chr9:97864044
GRCh38:
Chr9:95101762
FANCC, AOPEPP541LFanconi anemia, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000485551
64.
GRCh37:
Chr9:97864055
GRCh38:
Chr9:95101773
FANCC, AOPEPFanconi anemia, not specifiedLikely benign
(Oct 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000516062
65.
GRCh37:
Chr9:97864059
GRCh38:
Chr9:95101777
FANCC, AOPEPL536Pnot provided, Fanconi anemiaUncertain significance
(Apr 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000127536
66.
GRCh37:
Chr9:97864062
GRCh38:
Chr9:95101780
FANCC, AOPEPR535HFanconi anemia, not specifiedConflicting interpretations of pathogenicity
(Mar 8, 2018)
criteria provided, conflicting interpretationsVCV000127535
67.
GRCh37:
Chr9:97864063
GRCh38:
Chr9:95101781
FANCC, AOPEPR535CHereditary cancer-predisposing syndrome, Fanconi anemiaUncertain significance
(Oct 25, 2017)
criteria provided, multiple submitters, no conflictsVCV000220016
68.
GRCh37:
Chr9:97864067
GRCh38:
Chr9:95101785
FANCC, AOPEPW533*Fanconi anemia, complementation group CLikely pathogenic
(Feb 2, 2016)
criteria provided, single submitterVCV000370395
69.
GRCh37:
Chr9:97864069
GRCh38:
Chr9:95101787
FANCC, AOPEPW533Gnot providedUncertain significance
(Jul 1, 2014)
criteria provided, single submitterVCV000182491
70.
GRCh37:
Chr9:97864071
GRCh38:
Chr9:95101789
FANCC, AOPEPR532Knot provided, Fanconi anemiaUncertain significance
(Apr 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000216285
71.
GRCh37:
Chr9:97864072
GRCh38:
Chr9:95101790
FANCC, AOPEPFanconi anemiaLikely benign
(Oct 29, 2015)
criteria provided, single submitterVCV000220912
72.
GRCh37:
Chr9:97864075
GRCh38:
Chr9:95101794-95101797
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(Jun 23, 2017)
criteria provided, single submitterVCV000552605
73.
GRCh37:
Chr9:97864077
GRCh38:
Chr9:95101795
FANCC, AOPEPL530SHereditary cancer-predisposing syndrome, not provided, Fanconi anemia
Uncertain significance
(Apr 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000216284
74.
GRCh37:
Chr9:97864081
GRCh38:
Chr9:95101799
FANCC, AOPEPT529Pnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134300
75.
GRCh37:
Chr9:97864091
GRCh38:
Chr9:95101809
FANCC, AOPEPF525LHereditary cancer-predisposing syndrome, not provided, Fanconi anemia
Uncertain significance
(Jun 6, 2015)
criteria provided, multiple submitters, no conflictsVCV000127534
76.
GRCh37:
Chr9:97864098
GRCh38:
Chr9:95101816
FANCC, AOPEPI523TFanconi anemiaUncertain significance
(Dec 11, 2017)
criteria provided, single submitterVCV000526329
77.
GRCh37:
Chr9:97864105
GRCh38:
Chr9:95101823
FANCC, AOPEPE521Knot provided, Fanconi anemiaUncertain significance
(Jun 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000234512
78.
GRCh37:
Chr9:97864106
GRCh38:
Chr9:95101824
FANCC, AOPEPHereditary cancer-predisposing syndrome, not specified, Fanconi anemia
Conflicting interpretations of pathogenicity
(Feb 11, 2016)
criteria provided, conflicting interpretationsVCV000383837
79.
GRCh37:
Chr9:97864111
GRCh38:
Chr9:95101829
FANCC, AOPEPFanconi anemia, complementation group CPathogenic
(Jan 1, 1996)
no assertion criteria providedVCV000012048
80.
GRCh37:
Chr9:97864112-97864117
GRCh38:
Chr9:95101831-95101835
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(Jul 21, 2017)
criteria provided, single submitterVCV000552933
81.
GRCh37:
Chr9:97864119-97864120
GRCh38:
Chr9:95101837-95101838
FANCC, AOPEPHereditary cancer-predisposing syndrome, not specifiedUncertain significance
(May 15, 2017)
criteria provided, multiple submitters, no conflictsVCV000449977
82.
GRCh37:
Chr9:97864122
GRCh38:
Chr9:95101840
FANCC, AOPEPT515Snot provided, Fanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000367609
83.
GRCh37:
Chr9:97864133
GRCh38:
Chr9:95101851
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(Feb 14, 2018)
criteria provided, single submitterVCV000556701
84.
GRCh37:
Chr9:97864134
GRCh38:
Chr9:95101852
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(Jul 31, 2017)
criteria provided, single submitterVCV000552953
85.
GRCh37:
Chr9:97864137
GRCh38:
Chr9:95101855
FANCC, AOPEPnot specified, Fanconi anemiaLikely benign
(Feb 22, 2018)
criteria provided, multiple submitters, no conflictsVCV000415742
86.
GRCh37:
Chr9:97864137
GRCh38:
Chr9:95101855
FANCC, AOPEPnot provided, Fanconi anemiaUncertain significance
(May 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000182490
87.
GRCh37:
Chr9:97864148
GRCh38:
Chr9:95101866
FANCC, AOPEPnot specifiedLikely benign
(Apr 29, 2016)
criteria provided, single submitterVCV000385936
88.
GRCh37:
Chr9:97869298
GRCh38:
Chr9:95107016
FANCC, AOPEPnot providedLikely benign
(Apr 29, 2016)
criteria provided, single submitterVCV000495552
89.
GRCh37:
Chr9:97869339
GRCh38:
Chr9:95107057
FANCC, AOPEPFanconi anemia, Fanconi anemia, complementation group CLikely benign
(Jun 25, 2015)
criteria provided, multiple submitters, no conflictsVCV000215636
90.
GRCh37:
Chr9:97869346
GRCh38:
Chr9:95107064
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(Aug 24, 2016)
criteria provided, single submitterVCV000371310
91.
GRCh37:
Chr9:97869347
GRCh38:
Chr9:95107065
FANCC, AOPEPFanconi anemia, complementation group CLikely pathogenic
(May 24, 2016)
criteria provided, single submitterVCV000370968
92.
GRCh37:
Chr9:97869349
GRCh38:
Chr9:95107067
FANCC, AOPEPL511PFanconi anemiaUncertain significance
(Oct 19, 2017)
criteria provided, single submitterVCV000526325
93.
GRCh37:
Chr9:97869351
GRCh38:
Chr9:95107069
FANCC, AOPEPFanconi anemia, Hereditary cancer-predisposing syndromeLikely benign
(Dec 18, 2017)
criteria provided, multiple submitters, no conflictsVCV000415741
94.
GRCh37:
Chr9:97869354
GRCh38:
Chr9:95107072
FANCC, AOPEPnot specifiedLikely benign
(Feb 14, 2017)
criteria provided, single submitterVCV000517765
95.
GRCh37:
Chr9:97869357
GRCh38:
Chr9:95107075
FANCC, AOPEPnot specifiedLikely benign
(Dec 4, 2015)
criteria provided, single submitterVCV000380204
96.
GRCh37:
Chr9:97869363
GRCh38:
Chr9:95107081
FANCC, AOPEPW506CFanconi anemiaUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000526356
97.
GRCh37:
Chr9:97869364
GRCh38:
Chr9:95107082
FANCC, AOPEPW506*Fanconi anemia, complementation group CLikely pathogenic
(Feb 9, 2016)
criteria provided, single submitterVCV000370437
98.
GRCh37:
Chr9:97869365
GRCh38:
Chr9:95107083
FANCC, AOPEPW506Rnot providedUncertain significance
(Jan 5, 2015)
criteria provided, single submitterVCV000182489
99.
GRCh37:
Chr9:97869368
GRCh38:
Chr9:95107086
FANCC, AOPEPA505THereditary cancer-predisposing syndrome, Fanconi anemia, not provided
Uncertain significance
(Feb 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000220138
100.
GRCh37:
Chr9:97869372
GRCh38:
Chr9:95107090
FANCC, AOPEPnot specified, Fanconi anemia, Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Oct 9, 2014)
criteria provided, multiple submitters, no conflictsVCV000182501
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