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Items: 1 to 100 of 1402

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
TP53Li-Fraumeni syndrome 1Pathogenic
(Feb 15, 2001)
no assertion criteria provided
2.
TP53Li-Fraumeni syndrome 1Pathogenic
(Apr 1, 1994)
no assertion criteria provided
3.
GRCh37:
Chr17:6934163-8217978
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria provided
4.
GRCh37:
Chr17:7506837-7671804
GRCh38:
Chr17:7603519-7768486
ATP1B2, EFNB3, SHBG, TP53, FXR2, WRAP53, SAT2, DNAH2VEGF Inhibitors responsedrug response
(Nov 27, 2017)
no assertion criteria provided
5.
GRCh37:
Chr17:7571226
GRCh38:
Chr17:7667908
TP53Hereditary cancer-predisposing syndromeBenign
(Apr 15, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr17:7571521
GRCh38:
Chr17:7668203
TP53Li-Fraumeni syndromePathogenic
(May 18, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr17:7571706
GRCh38:
Chr17:7668388
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:7571752
GRCh38:
Chr17:7668434
TP53Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Basal cell carcinoma, susceptibility to, 7,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity, risk factor
(Jul 12, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr17:7571767
GRCh38:
Chr17:7668449
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr17:7571857
GRCh38:
Chr17:7668539
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr17:7571950
GRCh38:
Chr17:7668632
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:7571991
GRCh38:
Chr17:7668673
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:7572101
GRCh38:
Chr17:7668783
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:7572121
GRCh38:
Chr17:7668803
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr17:7572137
GRCh38:
Chr17:7668819
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:7572148
GRCh38:
Chr17:7668830
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:7572154
GRCh38:
Chr17:7668836
TP53Li-Fraumeni syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:7572155
GRCh38:
Chr17:7668837
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:7572173
GRCh38:
Chr17:7668855
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr17:7572180
GRCh38:
Chr17:7668862
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:7572192
GRCh38:
Chr17:7668874
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:7572301
GRCh38:
Chr17:7668983
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:7572314
GRCh38:
Chr17:7668996
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:7572357-7572358
GRCh38:
Chr17:7669039-7669040
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr17:7572362
GRCh38:
Chr17:7669044
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:7572379
GRCh38:
Chr17:7669061
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:7572442
GRCh38:
Chr17:7669124
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:7572545
GRCh38:
Chr17:7669227
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr17:7572580
GRCh38:
Chr17:7669262
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr17:7572581
GRCh38:
Chr17:7669263
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:7572600
GRCh38:
Chr17:7669282
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:7572722
GRCh38:
Chr17:7669404
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:7572828
GRCh38:
Chr17:7669510
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:7572911
GRCh38:
Chr17:7669593
TP53not specifiedUncertain significance
(Oct 5, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr17:7572912
GRCh38:
Chr17:7669594
TP53not specifiedLikely benign
(Mar 7, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr17:7572914
GRCh38:
Chr17:7669596
TP53not specifiedLikely benign
(Oct 7, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr17:7572921
GRCh38:
Chr17:7669603
TP53not specified, not providedConflicting interpretations of pathogenicity
(May 15, 2017)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr17:7572927
GRCh38:
Chr17:7669609
TP53Li-Fraumeni syndromeUncertain significance
(Jul 5, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr17:7572929
GRCh38:
Chr17:7669611
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr17:7572930
GRCh38:
Chr17:7669612
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Nov 1, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Jun 20, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53Li-Fraumeni syndromeUncertain significance
(Jul 12, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr17:7572944
GRCh38:
Chr17:7669626
TP53Li-Fraumeni syndromeUncertain significance
(Mar 21, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr17:7572944
GRCh38:
Chr17:7669626
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jul 24, 2014)
no assertion criteria provided
45.
GRCh37:
Chr17:7572946
GRCh38:
Chr17:7669628
TP53Li-Fraumeni syndrome, not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 28, 2018)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:7572948
GRCh38:
Chr17:7669630
TP53Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:7572949
GRCh38:
Chr17:7669631
TP53Hereditary cancer-predisposing syndromeLikely benign
(Sep 26, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr17:7572956
GRCh38:
Chr17:7669638
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Feb 12, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:7572956-7572958
GRCh38:
Chr17:7669638-7669640
TP53not specifiedUncertain significance
(Feb 20, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr17:7572958
GRCh38:
Chr17:7669640
TP53Li-Fraumeni syndromeUncertain significance
(Jan 23, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr17:7572958
GRCh38:
Chr17:7669640
TP53Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 7, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:7572959
GRCh38:
Chr17:7669641
TP53Li-Fraumeni syndrome, not specified, not provided,
Hereditary cancer-predisposing syndrome
Uncertain significance
(May 1, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:7572960
GRCh38:
Chr17:7669642
TP53Hereditary cancer-predisposing syndromeLikely benign
(Jun 8, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr17:7572960
GRCh38:
Chr17:7669642
TP53Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
Likely benign
(Dec 25, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:7572962
GRCh38:
Chr17:7669644
TP53not providedUncertain significance
(Jun 22, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr17:7572963
GRCh38:
Chr17:7669645
TP53Li-Fraumeni syndromeUncertain significance
(Mar 5, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr17:7572969
GRCh38:
Chr17:7669651
TP53not providedUncertain significance
(Oct 25, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr17:7572969
GRCh38:
Chr17:7669651
TP53Li-Fraumeni syndromeUncertain significance
(Apr 10, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr17:7572970
GRCh38:
Chr17:7669652
TP53Hereditary cancer-predisposing syndromeUncertain significance
(May 21, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr17:7572972
GRCh38:
Chr17:7669654
TP53Hereditary cancer-predisposing syndromeLikely benign
(Jul 29, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr17:7572973
GRCh38:
Chr17:7669655
TP53Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, not provided,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Jun 20, 2018)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:7572973
GRCh38:
Chr17:7669655
TP53Li-Fraumeni syndrome, not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jul 21, 2017)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:7572974
GRCh38:
Chr17:7669656
TP53Li-Fraumeni syndrome 1, not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Aug 18, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:7572974
GRCh38:
Chr17:7669656
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 11, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:7572975
GRCh38:
Chr17:7669657
TP53Li-Fraumeni syndromeLikely benign
(May 20, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr17:7572976
GRCh38:
Chr17:7669658
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Aug 10, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:7572978
GRCh38:
Chr17:7669660
TP53not specifiedLikely benign
(Sep 1, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr17:7572980
GRCh38:
Chr17:7669662
TP53Li-Fraumeni syndromeUncertain significance
(Mar 26, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr17:7572982
GRCh38:
Chr17:7669664
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Aug 30, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr17:7572984
GRCh38:
Chr17:7669666
TP53not providedPathogenic
(Mar 23, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr17:7572986
GRCh38:
Chr17:7669668
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 18, 2018)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:7572988
GRCh38:
Chr17:7669670
TP53Li-Fraumeni syndromeUncertain significance
(Apr 30, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr17:7572989
GRCh38:
Chr17:7669671
TP53Li-Fraumeni syndrome, not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2017)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr17:7572989
GRCh38:
Chr17:7669671
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Jan 12, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr17:7572991
GRCh38:
Chr17:7669673
TP53Li-Fraumeni syndromeUncertain significance
(Mar 4, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr17:7572994
GRCh38:
Chr17:7669676
TP53not specifiedUncertain significance
(Nov 26, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr17:7572994
GRCh38:
Chr17:7669676
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Nov 3, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr17:7573005
GRCh38:
Chr17:7669687
TP53Hereditary cancer-predisposing syndromeLikely benign
(Jan 26, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr17:7573005
GRCh38:
Chr17:7669687
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Oct 13, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr17:7573007
GRCh38:
Chr17:7669689
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Jul 7, 2015)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:7573009
GRCh38:
Chr17:7669691
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Feb 10, 2017)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr17:7573010
GRCh38:
Chr17:7669692
TP53Li-Fraumeni syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 18, 2018)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:7573011
GRCh38:
Chr17:7669693
TP53not specifiedLikely benign
(Nov 19, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr17:7573907-7573913
GRCh38:
Chr17:7670589-7670595
TP53not specifiedLikely benign
(Dec 12, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr17:7573911
GRCh38:
Chr17:7670593
TP53not specifiedLikely benign
(Jun 21, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr17:7573912
GRCh38:
Chr17:7670594
TP53Hereditary cancer-predisposing syndromeLikely benign
(Sep 26, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr17:7573914
GRCh38:
Chr17:7670596
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Jul 1, 2013)
criteria provided, single submitter
88.
GRCh37:
Chr17:7573917
GRCh38:
Chr17:7670599
TP53Li-Fraumeni syndromeLikely benign
(Jan 23, 2017)
criteria provided, single submitter
89.
GRCh37:
Chr17:7573917
GRCh38:
Chr17:7670599
TP53Li-Fraumeni syndromeLikely benign
(May 31, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr17:7573919
GRCh38:
Chr17:7670601
TP53Li-Fraumeni syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Dec 6, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:7573920
GRCh38:
Chr17:7670602
TP53Li-Fraumeni syndromeLikely benign
(Nov 6, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr17:7573923
GRCh38:
Chr17:7670605
TP53not providedUncertain significance
(Jan 21, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr17:7573924
GRCh38:
Chr17:7670606
TP53not specifiedLikely benign
(Jan 4, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr17:7573928
GRCh38:
Chr17:7670610
TP53Hereditary cancer-predisposing syndromeUncertain significance
(May 26, 2015)
criteria provided, single submitter
95.
GRCh37:
Chr17:7573931
GRCh38:
Chr17:7670613
TP53Li-Fraumeni syndromeUncertain significance
(Dec 10, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr17:7573931
GRCh38:
Chr17:7670613
TP53Li-Fraumeni syndrome, not specified, not provided,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 14, 2018)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr17:7573934
GRCh38:
Chr17:7670616
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 25, 2018)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:7573936
GRCh38:
Chr17:7670618
TP53Li-Fraumeni syndromeUncertain significance
(Apr 5, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr17:7573939
GRCh38:
Chr17:7670621
TP53not provided, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 4, 2018)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:7573940
GRCh38:
Chr17:7670622
TP53Li-Fraumeni syndrome, not providedUncertain significance
(Aug 5, 2015)
criteria provided, multiple submitters, no conflicts
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