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Items: 1 to 100 of 480

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
RECQL4Rapadilino syndromePathogenic
(Nov 1, 2003)
no assertion criteria provided
2.
RECQL4Rapadilino syndromePathogenic
(Nov 1, 2003)
no assertion criteria provided
3.
GRCh37:
Chr8:145736819
GRCh38:
Chr8:144511436
RECQL4Baller-Gerold syndromeGMAF:0.00060(A)
GO-ESP:0.00056(A)
Uncertain significance
(Jan 12, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr8:145736832
GRCh38:
Chr8:144511449
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00080(A)
GO-ESP:0.00272(A)
Benign/Likely benign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:145736841
GRCh38:
Chr8:144511458
RECQL4Baller-Gerold syndrome, not specifiedGO-ESP:0.00055(T)
GMAF:0.00060(T)
GO-ESP:0.00025(T)
Conflicting interpretations of pathogenicity
(Jan 26, 2017)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr8:145736841-145736842
GRCh38:
Chr8:144511458-144511459
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
7.
GRCh37:
Chr8:145736847
GRCh38:
Chr8:144511464
RECQL4Baller-Gerold syndromeGMAF:0.00080(T)
GO-ESP:0.00045(T)
Benign
(Jan 3, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr8:145736859
GRCh38:
Chr8:144511476
RECQL4Baller-Gerold syndromeLikely benign
(Jan 9, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr8:145736861
GRCh38:
Chr8:144511478
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 21, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr8:145736868
GRCh38:
Chr8:144511485
RECQL4Baller-Gerold syndromeGO-ESP:0.00013(A)Likely benign
(Jan 6, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr8:145736897
GRCh38:
Chr8:144511514
RECQL4Baller-Gerold syndromeGO-ESP:0.00003(A)Uncertain significance
(May 5, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:145736900
GRCh38:
Chr8:144511517
RECQL4Baller-Gerold syndromeUncertain significance
(Oct 17, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:145736909
GRCh38:
Chr8:144511526
RECQL4Baller-Gerold syndromeUncertain significance
(Aug 9, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:145736910
GRCh38:
Chr8:144511527
RECQL4Baller-Gerold syndromeGMAF:0.00140(A)
GO-ESP:0.00050(A)
Benign
(Nov 26, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:145736920
GRCh38:
Chr8:144511537
RECQL4Baller-Gerold syndromeGO-ESP:0.00001(T)Uncertain significance
(Aug 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr8:145736920
GRCh38:
Chr8:144511537
RECQL4not specifiednot provided
(Sep 19, 2013)
no assertion provided
17.
GRCh37:
Chr8:145736922
GRCh38:
Chr8:144511539
RECQL4Baller-Gerold syndromeLikely benign
(Aug 29, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:145736926
GRCh38:
Chr8:144511543
RECQL4Baller-Gerold syndromeUncertain significance
(Aug 12, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr8:145736942
GRCh38:
Chr8:144511559
RECQL4Baller-Gerold syndromeLikely benign
(Sep 4, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr8:145736943
GRCh38:
Chr8:144511560
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 25, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:145737056
GRCh38:
Chr8:144511673
RECQL4Baller-Gerold syndromeLikely benign
(Jun 2, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr8:145737063
GRCh38:
Chr8:144511680
RECQL4Baller-Gerold syndromeLikely pathogenic
(Jul 9, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr8:145737065
GRCh38:
Chr8:144511682
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 7, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:145737071
GRCh38:
Chr8:144511688
RECQL4Baller-Gerold syndromeGO-ESP:0.00031(A)Likely benign
(Oct 15, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr8:145737086
GRCh38:
Chr8:144511703
RECQL4Baller-Gerold syndromeBenign
(Jan 30, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr8:145737092
GRCh38:
Chr8:144511709
RECQL4Baller-Gerold syndromeLikely benign
(Jul 16, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr8:145737107-145737109
GRCh38:
Chr8:144511724-144511726
RECQL4Baller-Gerold syndromeUncertain significance
(Jun 10, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr8:145737123
GRCh38:
Chr8:144511740
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00080(A)
GO-ESP:0.00154(A)
Benign
(Jan 26, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr8:145737131
GRCh38:
Chr8:144511748
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00120(G)
GO-ESP:0.00339(G)
Benign/Likely benign, not provided
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr8:145737136
GRCh38:
Chr8:144511753
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 13, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:145737142
GRCh38:
Chr8:144511759
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 4, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr8:145737142
GRCh38:
Chr8:144511759
RECQL4Baller-Gerold syndromeGO-ESP:0.00014(G)Uncertain significance
(Feb 7, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr8:145737145
GRCh38:
Chr8:144511762
RECQL4not specifiednot provided
(Sep 19, 2013)
no assertion provided
34.
GRCh37:
Chr8:145737285
GRCh38:
Chr8:144511902
RECQL4not specifiedGMAF:0.00680(C)
GO-ESP:0.02257(C)
Benigncriteria provided, single submitter
35.
GRCh37:
Chr8:145737285-145737286
GRCh38:
Chr8:144511902-144511903
RECQL4Baller-Gerold syndromeBenign
(Mar 28, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:145737286-145737287
GRCh38:
Chr8:144511903-144511904
RECQL4Baller-Gerold syndromeLikely benign
(Oct 27, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:145737286
GRCh38:
Chr8:144511903
RECQL4not specifiedGO-ESP:0.34997(A)
GMAF:0.40060(A)
GO-ESP:0.46696(A)
Benign
(May 8, 2014)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr8:145737295
GRCh38:
Chr8:144511912
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00220(T)
GO-ESP:0.00071(T)
Benign/Likely benign
(Jan 20, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr8:145737326
GRCh38:
Chr8:144511943
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 27, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr8:145737340
GRCh38:
Chr8:144511957
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 24, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr8:145737349
GRCh38:
Chr8:144511966
RECQL4Baller-Gerold syndromeUncertain significance
(May 4, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr8:145737350
GRCh38:
Chr8:144511967
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00360(G)
GO-ESP:0.00097(G)
Benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr8:145737370
GRCh38:
Chr8:144511987
RECQL4Baller-Gerold syndromeUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr8:145737373
GRCh38:
Chr8:144511990
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00360(T)
GO-ESP:0.00543(T)
Benign/Likely benign, not provided
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:145737374
GRCh38:
Chr8:144511991
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00200(T)
GO-ESP:0.00103(T)
Benign
(Jan 9, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr8:145737386
GRCh38:
Chr8:144512003
RECQL4Baller-Gerold syndromeUncertain significance
(Oct 21, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr8:145737416
GRCh38:
Chr8:144512033
RECQL4Rapadilino syndromeGO-ESP:0.00001(A)Likely pathogenicno assertion criteria provided
48.
GRCh37:
Chr8:145737431
GRCh38:
Chr8:144512048
RECQL4Baller-Gerold syndromeUncertain significance
(Aug 15, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr8:145737431
GRCh38:
Chr8:144512048
RECQL4Baller-Gerold syndrome, not specifiedGO-ESP:0.00002(T)Uncertain significance
(Dec 26, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr8:145737438
GRCh38:
Chr8:144512055
RECQL4not specifiedLikely benigncriteria provided, single submitter
51.
GRCh37:
Chr8:145737441
GRCh38:
Chr8:144512058
RECQL4Baller-Gerold syndromeLikely benign
(Aug 21, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr8:145737514
GRCh38:
Chr8:144512131
RECQL4not specifiedGO-ESP:0.39325(A)
GMAF:0.43330(A)
Benign
(May 8, 2014)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr8:145737523
GRCh38:
Chr8:144512140
RECQL4Baller-Gerold syndromeGMAF:0.00020(T)
GO-ESP:0.00002(T)
Uncertain significance
(Jan 9, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr8:145737547
GRCh38:
Chr8:144512164
RECQL4Baller-Gerold syndromeLikely benign
(Oct 3, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr8:145737549
GRCh38:
Chr8:144512166
RECQL4Rapadilino syndromeGO-ESP:0.00001(A)Likely pathogenicno assertion criteria provided
56.
GRCh37:
Chr8:145737556
GRCh38:
Chr8:144512173
RECQL4Baller-Gerold syndromeLikely benign
(Jul 22, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr8:145737558
GRCh38:
Chr8:144512175
RECQL4Baller-Gerold syndromeUncertain significance
(Apr 4, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr8:145737572
GRCh38:
Chr8:144512189
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 20, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr8:145737578
GRCh38:
Chr8:144512195
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 29, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr8:145737579
GRCh38:
Chr8:144512196
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00060(A)
GO-ESP:0.00031(A)
Uncertain significance
(Feb 1, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr8:145737591
GRCh38:
Chr8:144512208
RECQL4Baller-Gerold syndromeGMAF:0.00020(C)Uncertain significance
(Mar 10, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr8:145737591
GRCh38:
Chr8:144512208
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00020(C)
GO-ESP:0.00017(C)
Uncertain significance
(Jun 16, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr8:145737599
GRCh38:
Chr8:144512216
RECQL4Baller-Gerold syndromeUncertain significance
(Aug 25, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr8:145737601
GRCh38:
Chr8:144512218
RECQL4Baller-Gerold syndromeGMAF:0.00020(A)
GO-ESP:0.00004(A)
Likely benign
(Mar 19, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr8:145737620
GRCh38:
Chr8:144512237
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr8:145737630
GRCh38:
Chr8:144512247
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00400(T)
GO-ESP:0.00124(T)
Benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr8:145737635
GRCh38:
Chr8:144512252
RECQL4not specifiedUncertain significance
(Oct 10, 2012)
criteria provided, single submitter
68.
GRCh37:
Chr8:145737636
GRCh38:
Chr8:144512253
RECQL4Baller-Gerold syndromeGMAF:0.05390(A)
GO-ESP:0.02717(A)
Benign
(Jan 25, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr8:145737636
GRCh38:
Chr8:144512253
RECQL4not specifiedGMAF:0.05390(A)Benign
(Aug 2, 2012)
no assertion criteria provided
70.
GRCh37:
Chr8:145737650
GRCh38:
Chr8:144512267
RECQL4Baller-Gerold syndromeUncertain significance
(Nov 21, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr8:145737651
GRCh38:
Chr8:144512268
RECQL4Baller-Gerold syndromeUncertain significance
(Nov 3, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr8:145737661
GRCh38:
Chr8:144512278
RECQL4Baller-Gerold syndromeLikely benign
(Aug 25, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr8:145737690-145737691
GRCh38:
Chr8:144512307-144512308
RECQL4Baller-Gerold syndromeGO-ESP:0.00003(-)Pathogenic
(Dec 16, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr8:145737691
GRCh38:
Chr8:144512308
RECQL4Baller-Gerold syndromeLikely benign
(Jul 21, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr8:145737691
GRCh38:
Chr8:144512308
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
76.
GRCh37:
Chr8:145737701
GRCh38:
Chr8:144512318
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00120(T)
GO-ESP:0.00396(T)
Conflicting interpretations of pathogenicity, not provided
(Jan 26, 2017)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr8:145737702
GRCh38:
Chr8:144512319
RECQL4Baller-Gerold syndromeGMAF:0.00020(A)
GO-ESP:0.00004(A)
Pathogenic
(Feb 1, 2009)
no assertion criteria provided
78.
GRCh37:
Chr8:145737705
GRCh38:
Chr8:144512322
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00300(T)
GO-ESP:0.00190(T)
Benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr8:145737709
GRCh38:
Chr8:144512326
RECQL4Baller-Gerold syndromePathogenic
(Feb 1, 2006)
no assertion criteria provided
80.
GRCh37:
Chr8:145737770
GRCh38:
Chr8:144512387
RECQL4Baller-Gerold syndromeUncertain significance
(Jan 12, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr8:145737788
GRCh38:
Chr8:144512405
RECQL4Baller-Gerold syndromeLikely benign
(Apr 30, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr8:145737803
GRCh38:
Chr8:144512420
RECQL4Baller-Gerold syndromeGO-ESP:0.00004(T)Likely benign
(Dec 22, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr8:145737816
GRCh38:
Chr8:144512433
RECQL4not specifiedGO-ESP:0.34191(T)
GMAF:0.38440(T)
GO-ESP:0.46120(T)
Benign
(May 8, 2014)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:145737820
GRCh38:
Chr8:144512437
RECQL4Baller-Gerold syndromeGMAF:0.00260(A)
GO-ESP:0.00036(A)
Likely benign
(Nov 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr8:145737821
GRCh38:
Chr8:144512438
RECQL4Baller-Gerold syndromeLikely benign
(Dec 16, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr8:145737843
GRCh38:
Chr8:144512460
RECQL4Baller-Gerold syndromeUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr8:145737847
GRCh38:
Chr8:144512464
RECQL4Baller-Gerold syndromeUncertain significance
(Sep 7, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr8:145737854
GRCh38:
Chr8:144512471
RECQL4not specifiedGO-ESP:0.00001(G)Uncertain significance
(Jul 21, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr8:145737863
GRCh38:
Chr8:144512480
RECQL4Baller-Gerold syndromeGMAF:0.00020(T)
GO-ESP:0.00019(T)
Uncertain significance
(Jan 12, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr8:145737869
GRCh38:
Chr8:144512486
RECQL4Baller-Gerold syndromeUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr8:145737877
GRCh38:
Chr8:144512494
RECQL4Baller-Gerold syndrome, not specifiedGMAF:0.00020(T)
GO-ESP:0.00055(T)
Likely benign
(Dec 29, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr8:145737895
GRCh38:
Chr8:144512512
RECQL4not specifiedGO-ESP:0.00001(T)not provided
(Sep 19, 2013)
no assertion provided
93.
GRCh37:
Chr8:145737904
GRCh38:
Chr8:144512521
RECQL4Baller-Gerold syndromeUncertain significance
(Jun 11, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr8:145737928
GRCh38:
Chr8:144512545
RECQL4Baller-Gerold syndromeUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr8:145737954
GRCh38:
Chr8:144512571
RECQL4Baller-Gerold syndromeLikely benign
(Nov 2, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr8:145738016
GRCh38:
Chr8:144512633
RECQL4Baller-Gerold syndromeGMAF:0.00020(T)
GO-ESP:0.00003(T)
Likely benign
(Feb 25, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr8:145738017
GRCh38:
Chr8:144512634
RECQL4Baller-Gerold syndromeLikely benign
(Aug 10, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr8:145738061
GRCh38:
Chr8:144512678
RECQL4Baller-Gerold syndromeGO-ESP:0.00002(C)Uncertain significance
(Dec 28, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr8:145738088
GRCh38:
Chr8:144512705
RECQL4Baller-Gerold syndromeUncertain significance
(Jul 24, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr8:145738090
GRCh38:
Chr8:144512707
RECQL4Baller-Gerold syndromeLikely benign
(Aug 17, 2016)
criteria provided, single submitter
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