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Results: 1 to 20 of 29

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
BSNDnot specifiedBenign/Likely benign
(Jul 31, 2014)
classified by single submitter155007181
2.
BSNDnot specifiedGMAF:0.00040(G)Uncertain significance
(Jun 25, 2013)
classified by single submitter155008537
3.
BSNDMalignant melanomanot providednot classified by submitter155008539
4.
BSNDMalignant melanomanot providednot classified by submitter155007024
5.
BSNDnot specifiedGO-ESP:0.19968(A)
GMAF:0.11600(A)
Benign/Likely benign
(May 7, 2012)
classified by single submitter155008589
6.
BSNDnot specifiedBenign/Likely benign
(Nov 29, 2012)
classified by single submitter155008582
7.
BSNDnot specifiedGO-ESP:0.00069(A)
GMAF:0.00040(A)
Uncertain significance
(Dec 11, 2012)
classified by single submitter155008516
8.
BSNDnot specifiedGO-ESP:0.00108(T)
GMAF:0.00280(T)
Benign/Likely benign
(Jun 5, 2013)
classified by single submitter154999249
9.
BSNDnot specifiedGO-ESP:0.00138(T)
GMAF:0.00320(T)
Benign/Likely benign
(Apr 30, 2012)
classified by single submitter155005033
10.
BSNDnot specifiedGO-ESP:0.00008(A)Benign/Likely benign
(Apr 30, 2012)
classified by single submitter154999370
11.
BSNDnot specifiedGO-ESP:0.00146(C)
GMAF:0.00180(C)
Benign/Likely benign
(Apr 30, 2012)
classified by single submitter154999378
12.
BSNDnot specifiedGO-ESP:0.06089(A)
GMAF:0.09980(A)
Benign/Likely benign
(Apr 30, 2012)
classified by single submitter154999374
13.
BSNDnot specifiedGO-ESP:0.04260(A)
GMAF:0.08170(A)
Benign/Likely benign
(May 7, 2012)
classified by single submitter154999313
14.
BSNDnot specifiedGMAF:0.00060(T)Benign/Likely benign
(Dec 10, 2012)
classified by single submitter155008642
15.
BSNDSensorineural deafness with mild renal dysfunctionGMAF:0.00020(A)Pathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter154999196
16.
BSNDSensorineural deafness with mild renal dysfunctionPathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter154999221
17.
BSNDBartter syndrome type 4Pathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter154999209
18.
BSNDBartter syndrome type 4Pathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter154999189
19.
BSNDBartter syndrome type 4Pathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter
20.
BSNDBartter syndrome type 4Pathogenic/Likely pathogenic
(Oct 16, 2009)
classified by single submitter

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