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Items: 1 to 100 of 850

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:46714185
GRCh38:
Chr1:46248513
RAD54LR2TInborn genetic diseasesUncertain significance
(May 24, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr1:46714186
GRCh38:
Chr1:46248514
RAD54LInborn genetic diseasesLikely benign
(Jul 27, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr1:46714186
GRCh38:
Chr1:46248514
RAD54LR2SInborn genetic diseasesUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:46714187
GRCh38:
Chr1:46248515
RAD54LR3WInborn genetic diseasesUncertain significance
(Aug 25, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr1:46714189
GRCh38:
Chr1:46248517
RAD54LInborn genetic diseasesLikely benign
(Jan 6, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr1:46714189
GRCh38:
Chr1:46248517
RAD54LR3SInborn genetic diseasesUncertain significance
(Apr 2, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr1:46714193
GRCh38:
Chr1:46248521
RAD54LInborn genetic diseasesLikely benign
(Apr 6, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr1:46714194
GRCh38:
Chr1:46248522
RAD54LL5SInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:46714195
GRCh38:
Chr1:46248523
RAD54LInborn genetic diseasesLikely benign
(Aug 31, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr1:46714202
GRCh38:
Chr1:46248530
RAD54LS8RInborn genetic diseasesUncertain significance
(May 24, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:46714204
GRCh38:
Chr1:46248532
RAD54LS8RInborn genetic diseasesUncertain significance
(Jun 28, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr1:46714206
GRCh38:
Chr1:46248534
RAD54LQ9RInborn genetic diseasesUncertain significance
(Aug 30, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr1:46714207
GRCh38:
Chr1:46248535
RAD54LQ9HInborn genetic diseasesUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:46714208
GRCh38:
Chr1:46248536
RAD54LL10VInborn genetic diseasesUncertain significance
(Jan 18, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr1:46714210
GRCh38:
Chr1:46248538
RAD54LInborn genetic diseasesLikely benign
(Sep 13, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr1:46714213
GRCh38:
Chr1:46248541
RAD54LInborn genetic diseasesLikely benign
(Apr 30, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr1:46714218
GRCh38:
Chr1:46248546
RAD54LR13KInborn genetic diseasesUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:46714225
GRCh38:
Chr1:46248553
RAD54LInborn genetic diseasesLikely benign
(Feb 12, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:46714228
GRCh38:
Chr1:46248556
RAD54LInborn genetic diseasesLikely benign
(Mar 7, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:46714229
GRCh38:
Chr1:46248557
RAD54LG17SInborn genetic diseasesUncertain significance
(Aug 11, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr1:46714234
GRCh38:
Chr1:46248562
RAD54LR18SInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr1:46714235
GRCh38:
Chr1:46248563
RAD54LS19PInborn genetic diseasesLikely benign
(Jul 20, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr1:46714236
GRCh38:
Chr1:46248564
RAD54LS19CInborn genetic diseasesUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:46714237
GRCh38:
Chr1:46248565
RAD54LInborn genetic diseasesLikely benign
(Jul 12, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr1:46714239
GRCh38:
Chr1:46248567
RAD54LC20SInborn genetic diseasesLikely benign
(Dec 12, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr1:46714242
GRCh38:
Chr1:46248570
RAD54LD21GHereditary breast ovarian cancer syndrome, Inborn genetic diseasesBenign
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:46714244
GRCh38:
Chr1:46248572
RAD54LD22NInborn genetic diseasesUncertain significance
(May 19, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr1:46714249
GRCh38:
Chr1:46248577
RAD54LInborn genetic diseasesLikely benign
(Apr 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:46714250
GRCh38:
Chr1:46248578
RAD54LD24YInborn genetic diseasesUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr1:46714252
GRCh38:
Chr1:46248580
RAD54LD24EInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:46714259
GRCh38:
Chr1:46248587
RAD54LP27TInborn genetic diseasesUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:46714262
GRCh38:
Chr1:46248590
RAD54LG28SInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:46714264
GRCh38:
Chr1:46248592
RAD54LInborn genetic diseasesLikely benign
(Feb 11, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr1:46714266
GRCh38:
Chr1:46248594
RAD54LL29PInborn genetic diseasesUncertain significance
(Jan 28, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr1:46714268
GRCh38:
Chr1:46248596
RAD54LV30MInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:46715675
GRCh38:
Chr1:46250003
RAD54LP32SInborn genetic diseasesUncertain significance
(Mar 30, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:46715676
GRCh38:
Chr1:46250004
RAD54LP32HInborn genetic diseasesUncertain significance
(Sep 5, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr1:46715676
GRCh38:
Chr1:46250004
RAD54LP32RHereditary breast ovarian cancer syndrome, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 15, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr1:46715681
GRCh38:
Chr1:46250009
RAD54LK34QInborn genetic diseasesUncertain significance
(Jun 29, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr1:46715684
GRCh38:
Chr1:46250012
RAD54LR35WInborn genetic diseasesUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr1:46715685
GRCh38:
Chr1:46250013
RAD54LR35QInborn genetic diseasesUncertain significance
(Sep 1, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr1:46715686
GRCh38:
Chr1:46250014
RAD54LInborn genetic diseasesLikely benign
(Sep 28, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:46715689
GRCh38:
Chr1:46250017
RAD54LInborn genetic diseasesLikely benign
(Jul 16, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr1:46715692
GRCh38:
Chr1:46250020
RAD54LInborn genetic diseasesLikely benign
(Jan 5, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr1:46715697
GRCh38:
Chr1:46250025
RAD54LS39NInborn genetic diseasesUncertain significance
(Nov 10, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr1:46715698
GRCh38:
Chr1:46250026
RAD54LInborn genetic diseasesLikely benign
(Jun 9, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr1:46715699
GRCh38:
Chr1:46250027
RAD54LE40KInborn genetic diseasesUncertain significance
(Jul 9, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr1:46715703
GRCh38:
Chr1:46250031
RAD54LT41IInborn genetic diseasesUncertain significance
(Feb 12, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr1:46715715
GRCh38:
Chr1:46250043
RAD54LE45GInborn genetic diseasesUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr1:46715717
GRCh38:
Chr1:46250045
RAD54LC46GInborn genetic diseasesUncertain significance
(Mar 12, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr1:46715718
GRCh38:
Chr1:46250046
RAD54LC46YInborn genetic diseasesUncertain significance
(Feb 12, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr1:46715719
GRCh38:
Chr1:46250047
RAD54LInborn genetic diseasesLikely benign
(Sep 19, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:46715725
GRCh38:
Chr1:46250053
RAD54LInborn genetic diseasesLikely benign
(Jul 6, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr1:46715725
GRCh38:
Chr1:46250053
RAD54LInborn genetic diseasesLikely benign
(Feb 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:46715725
GRCh38:
Chr1:46250053
RAD54LInborn genetic diseases, Hereditary breast ovarian cancer syndromeLikely benign
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:46715729
GRCh38:
Chr1:46250057
RAD54LP50AInborn genetic diseasesUncertain significance
(Mar 17, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr1:46715741
GRCh38:
Chr1:46250069
RAD54LP54AAstrocytoma IDH-mutantUncertain significance
(May 2, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:46715745
GRCh38:
Chr1:46250073
RAD54LL55WInborn genetic diseasesUncertain significance
(Nov 18, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr1:46715747
GRCh38:
Chr1:46250075
RAD54LS56GInborn genetic diseasesUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:46715749
GRCh38:
Chr1:46250077
RAD54LS56RInborn genetic diseasesUncertain significance
(Nov 13, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr1:46715751
GRCh38:
Chr1:46250079
RAD54LQ57RInborn genetic diseasesUncertain significance
(Aug 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:46715752
GRCh38:
Chr1:46250080
RAD54LInborn genetic diseasesLikely benign
(Apr 10, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:46715758
GRCh38:
Chr1:46250086
RAD54LInborn genetic diseasesLikely benign
(Nov 10, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:46715758
GRCh38:
Chr1:46250086
RAD54LInborn genetic diseasesLikely benign
(Mar 9, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr1:46715761
GRCh38:
Chr1:46250089
RAD54LInborn genetic diseasesLikely benign
(Feb 23, 2023)
criteria provided, single submitter
66.
GRCh37:
Chr1:46715765
GRCh38:
Chr1:46250093
RAD54LP62TInborn genetic diseasesUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:46715767
GRCh38:
Chr1:46250095
RAD54LInborn genetic diseasesLikely benign
(Feb 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:46715769
GRCh38:
Chr1:46250097
RAD54LP63HColon adenocarcinomaPathogenic
(Jun 3, 1999)
no assertion criteria provided
69.
GRCh37:
Chr1:46715774
GRCh38:
Chr1:46250102
RAD54LInborn genetic diseasesLikely benign
(Mar 24, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:46715775
GRCh38:
Chr1:46250103
RAD54LL65PInborn genetic diseasesUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:46715777
GRCh38:
Chr1:46250105
RAD54LD66NInborn genetic diseasesUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:46715779
GRCh38:
Chr1:46250107
RAD54LInborn genetic diseasesLikely benign
(Aug 16, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:46715780
GRCh38:
Chr1:46250108
RAD54LS67GInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:46724358
GRCh38:
Chr1:46258686
RAD54LE71KInborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:46724361
GRCh38:
Chr1:46258689
RAD54LA72PFamilial cancer of breastUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:46724363
GRCh38:
Chr1:46258691
RAD54LInborn genetic diseasesLikely benign
(Aug 27, 2019)
criteria provided, single submitter
77.
GRCh37:
Chr1:46724363
GRCh38:
Chr1:46258691
RAD54LInborn genetic diseasesLikely benign
(Oct 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:46724366
GRCh38:
Chr1:46258694
RAD54LInborn genetic diseasesLikely benign
(Jun 13, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:46724370
GRCh38:
Chr1:46258698
RAD54LR75GInborn genetic diseasesUncertain significance
(Jun 23, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:46724371
GRCh38:
Chr1:46258699
RAD54LR75QInborn genetic diseasesUncertain significance
(Nov 23, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:46724371
GRCh38:
Chr1:46258699
RAD54LR75LInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:46724374
GRCh38:
Chr1:46258702
RAD54LS76NInborn genetic diseasesUncertain significance
(Sep 5, 2023)
criteria provided, single submitter
83.
GRCh37:
Chr1:46724374
GRCh38:
Chr1:46258702
RAD54LS76TInborn genetic diseasesUncertain significance
(Feb 14, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:46724381
GRCh38:
Chr1:46258709
RAD54LInborn genetic diseasesLikely benign
(Jun 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:46724382
GRCh38:
Chr1:46258710
RAD54LS79AInborn genetic diseasesUncertain significance
(Oct 29, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:46724384
GRCh38:
Chr1:46258712
RAD54LInborn genetic diseasesLikely benign
(Sep 8, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr1:46724393
GRCh38:
Chr1:46258721
RAD54LF82LInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:46724394
GRCh38:
Chr1:46258722
RAD54LK83EInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:46724397
GRCh38:
Chr1:46258725
RAD54LV84IInborn genetic diseasesLikely benign
(Sep 10, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr1:46724398
GRCh38:
Chr1:46258726
RAD54LV84GInborn genetic diseasesUncertain significance
(Jun 21, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr1:46724398
GRCh38:
Chr1:46258726
RAD54LV84AInborn genetic diseasesUncertain significance
(Aug 22, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:46724400
GRCh38:
Chr1:46258728
RAD54LP85AInborn genetic diseasesUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:46724401
GRCh38:
Chr1:46258729
RAD54LP85LInborn genetic diseasesUncertain significance
(Jul 15, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr1:46724401
GRCh38:
Chr1:46258729
RAD54LP85RInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:46724404
GRCh38:
Chr1:46258732
RAD54LI86SInborn genetic diseasesUncertain significance
(Nov 27, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr1:46724408
GRCh38:
Chr1:46258736
RAD54LInborn genetic diseasesLikely benign
(Sep 20, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:46724412
GRCh38:
Chr1:46258740
RAD54LY89HInborn genetic diseasesUncertain significance
(Jan 4, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr1:46724414
GRCh38:
Chr1:46258742
RAD54LInborn genetic diseasesLikely benign
(May 12, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:46725615
GRCh38:
Chr1:46259943
RAD54LHereditary breast ovarian cancer syndromeLikely benign
(Apr 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:46725638
GRCh38:
Chr1:46259966
RAD54LP92SInborn genetic diseasesUncertain significance
(May 23, 2022)
criteria provided, single submitter
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