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Items: 25

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:128470838
GRCh38:
Chr7:128830784
FLNCnot specifiedGO-ESP:0.09374(T)
GMAF:0.11000(T)
GO-ESP:0.09446(T)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr7:128477472
GRCh38:
Chr7:128837418
FLNCnot specifiedGO-ESP:0.11640(C)
GMAF:0.12180(C)
GO-ESP:0.10888(C)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:128477547
GRCh38:
Chr7:128837493
FLNCnot specifiedGO-ESP:0.11440(C)
GMAF:0.12100(C)
GO-ESP:0.10858(C)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:128478103
GRCh38:
Chr7:128838049
FLNCnot specifiedGO-ESP:0.11470(T)
GMAF:0.19650(T)
GO-ESP:0.09870(T)
Benign
(Feb 12, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:128478820
GRCh38:
Chr7:128838766
FLNCnot specifiedGO-ESP:0.01504(T)
GMAF:0.01900(T)
GO-ESP:0.00467(T)
Benign/Likely benign
(Apr 22, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr7:128480123
GRCh38:
Chr7:128840069
FLNCnot specifiedGO-ESP:0.10550(A)
GMAF:0.19610(A)
GO-ESP:0.08354(A)
Benign
(Feb 12, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:128480666
GRCh38:
Chr7:128840612
FLNCnot specifiedGO-ESP:0.02738(T)
GMAF:0.01600(T)
GO-ESP:0.03154(T)
Benign/Likely benign
(Jul 7, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr7:128482959
GRCh38:
Chr7:128842905
FLNCnot specifiedGO-ESP:0.00118(T)
GMAF:0.02400(T)
GO-ESP:0.00901(T)
Benign/Likely benign
(Apr 26, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:128484816
GRCh38:
Chr7:128844762
FLNCnot specifiedGO-ESP:0.28072(G)
GMAF:0.38000(G)
GO-ESP:0.23396(G)
Benign
(Jan 5, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr7:128485143
GRCh38:
Chr7:128845089
FLNCnot specifiedGO-ESP:0.07082(A)
GMAF:0.07470(A)
GO-ESP:0.02605(A)
Benign
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:128485276
GRCh38:
Chr7:128845222
FLNCnot specifiedGO-ESP:0.00016(A)
GMAF:0.00280(A)
GO-ESP:0.00127(A)
Likely benignno assertion criteria provided
12.
GRCh37:
Chr7:128486091
GRCh38:
Chr7:128846037
FLNCnot specifiedGO-ESP:0.03066(T)
GMAF:0.01980(T)
GO-ESP:0.03326(T)
Benign/Likely benign
(Jan 13, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:128486363
GRCh38:
Chr7:128846309
FLNCnot specifiedGO-ESP:0.28359(T)
GMAF:0.34610(T)
GO-ESP:0.22903(T)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:128486446
GRCh38:
Chr7:128846392
FLNCnot specifiedGO-ESP:0.07952(T)
GMAF:0.16050(T)
GO-ESP:0.08948(T)
Benign
(Feb 12, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:128487893
GRCh38:
Chr7:128847839
FLNCnot specifiedGO-ESP:0.14177(A)
GMAF:0.25780(A)
GO-ESP:0.12297(A)
Benign
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr7:128488734
GRCh38:
Chr7:128848680
FLNCnot specifiedGO-ESP:0.06495(A)
GMAF:0.06250(A)
GO-ESP:0.07638(A)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:128490516
GRCh38:
Chr7:128850462
FLNCnot providedGO-ESP:0.00011(A)Uncertain significance
(Nov 5, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr7:128491338
GRCh38:
Chr7:128851284
FLNCnot specifiedGO-ESP:0.00008(T)
GMAF:0.02400(T)
GO-ESP:0.00833(T)
Benign/Likely benign
(Dec 23, 2014)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:128491603
GRCh38:
Chr7:128851549
FLNCnot specifiedGO-ESP:0.18614(C)
GMAF:0.28890(C)
GO-ESP:0.13238(C)
Benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:128494510
GRCh38:
Chr7:128854456
FLNCnot specifiedGO-ESP:0.00849(G)
GMAF:0.01000(G)
GO-ESP:0.00328(G)
Benign/Likely benign
(Jul 7, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr7:128495338
GRCh38:
Chr7:128855284
FLNCnot specifiedGO-ESP:0.14911(T)
GMAF:0.25880(T)
GO-ESP:0.12296(T)
Benign
(Feb 12, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:128497400
GRCh38:
Chr7:128857346
FLNCnot specifiedGO-ESP:0.00500(G)Benign/Likely benign
(Aug 18, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:128498402
GRCh38:
Chr7:128858348
FLNCnot specifiedGMAF:0.00260(C)
GO-ESP:0.00121(C)
Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:128498517
GRCh38:
Chr7:128858463
FLNCnot specifiedGO-ESP:0.01342(T)
GMAF:0.02380(T)
GO-ESP:0.01061(T)
Benign/Likely benign
(Jul 22, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr7:128498520
GRCh38:
Chr7:128858466
FLNCnot specifiedGO-ESP:0.01398(C)
GMAF:0.02400(C)
GO-ESP:0.01048(C)
Benign/Likely benign
(Aug 26, 2016)
criteria provided, single submitter
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