S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 84

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:152346494
GRCh38:
Chr2:151489980
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.04916(C)
GMAF:0.01680(C)
GO-ESP:0.04402(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr2:152346979
GRCh38:
Chr2:151490465
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.41878(C)
GMAF:0.33430(C)
GO-ESP:0.41358(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:152348631
GRCh38:
Chr2:151492117
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.00058(C)
GMAF:0.00020(C)
GO-ESP:0.00100(C)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:152352843
GRCh38:
Chr2:151496329
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.62880(G)
GMAF:0.37220(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:152362669-152362670
GRCh38:
Chr2:151506155-151506156
NEB, RIF1not specifiedGO-ESP:0.00040(-)Uncertain significance
(Jun 25, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr2:152363468
GRCh38:
Chr2:151506954
NEB, RIF1not specifiedGO-ESP:0.01325(T)
GMAF:0.01140(T)
GO-ESP:0.00335(T)
Benign/Likely benign
(Jul 25, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:152363484
GRCh38:
Chr2:151506970
NEB, RIF1not specified, not providedGO-ESP:0.01105(A)
GMAF:0.01060(A)
GO-ESP:0.00345(A)
Benign/Likely benign
(Oct 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:152364589
GRCh38:
Chr2:151508075
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.02063(A)
GMAF:0.00620(A)
GO-ESP:0.02455(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:152380872
GRCh38:
Chr2:151524358
NEB, RIF1not providedGO-ESP:0.00008(A)
GO-ESP:0.00026(A)
Uncertain significance
(Aug 23, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr2:152380876
GRCh38:
Chr2:151524362
NEB, RIF1not specifiedGO-ESP:0.00006(A)Benign
(Dec 4, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr2:152382759
GRCh38:
Chr2:151526245
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.02764(C)
GMAF:0.02140(C)
GO-ESP:0.02648(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:152383521
GRCh38:
Chr2:151527007
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.01744(T)
GMAF:0.00580(T)
GO-ESP:0.02641(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:152385739
GRCh38:
Chr2:151529225
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.00206(A)
GMAF:0.00120(A)
GO-ESP:0.00248(A)
Conflicting interpretations of pathogenicity
(Sep 28, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr2:152387553
GRCh38:
Chr2:151531039
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.55387(C)
GMAF:0.49160(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:152387592
GRCh38:
Chr2:151531078
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.00188(A)
GMAF:0.01860(A)
GO-ESP:0.01529(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:152388309
GRCh38:
Chr2:151531795
NEB, RIF1not specified, Nemaline Myopathy, RecessiveGO-ESP:0.00873(A)
GMAF:0.02000(A)
GO-ESP:0.00846(A)
Conflicting interpretations of pathogenicity
(Jul 8, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr2:152394444
GRCh38:
Chr2:151537930
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00861(C)
GMAF:0.00360(C)
GO-ESP:0.00908(C)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr2:152397232
GRCh38:
Chr2:151540718
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.01322(A)
GMAF:0.01280(A)
GO-ESP:0.01566(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr2:152398045
GRCh38:
Chr2:151541531
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.03650(C)
GMAF:0.08410(C)
GO-ESP:0.03220(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:152404218
GRCh38:
Chr2:151547704
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.03911(A)
GMAF:0.08830(A)
GO-ESP:0.03449(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:152404881
GRCh38:
Chr2:151548367
NEBnot specified, not provided, Muscular dystrophy,
Progressive proximal muscle weakness, Limb pain
GMAF:0.00040(T)
GO-ESP:0.00058(T)
Conflicting interpretations of pathogenicity
(Nov 21, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr2:152404901
GRCh38:
Chr2:151548387
NEBnot specifiedGO-ESP:0.00888(A)
GMAF:0.00340(A)
GO-ESP:0.00683(A)
Benign/Likely benign
(Jun 2, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:152409296
GRCh38:
Chr2:151552782
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02347(A)
GMAF:0.01640(A)
GO-ESP:0.02561(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:152409927-152409931
GRCh38:
Chr2:151553413-151553417
NEBNemaline myopathy 2, autosomal recessivePathogenic
(Feb 7, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr2:152417109
GRCh38:
Chr2:151560595
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00803(A)
GMAF:0.01000(A)
GO-ESP:0.00379(A)
Conflicting interpretations of pathogenicity
(Jul 8, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr2:152417628
GRCh38:
Chr2:151561114
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02900(A)
GMAF:0.00720(A)
GO-ESP:0.03153(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:152417767
GRCh38:
Chr2:151561253
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00503(A)
GMAF:0.00540(A)
GO-ESP:0.00837(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr2:152417836
GRCh38:
Chr2:151561322
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02486(G)
GMAF:0.02620(G)
GO-ESP:0.01191(G)
Benign/Likely benign
(Aug 26, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:152420120
GRCh38:
Chr2:151563606
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00268(G)
GMAF:0.01360(G)
Benign/Likely benign
(Jul 8, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:152420216
GRCh38:
Chr2:151563702
NEBNemaline myopathy 2, autosomal recessivePathogenic
(Jan 20, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr2:152420361
GRCh38:
Chr2:151563847
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.01274(T)
GMAF:0.00600(T)
GO-ESP:0.01241(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:152422076
GRCh38:
Chr2:151565562
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.64977(G)
GMAF:0.34690(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:152422087
GRCh38:
Chr2:151565573
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.22700(G)
GMAF:0.22380(G)
GO-ESP:0.29548(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:152423725
GRCh38:
Chr2:151567211
NEBnot specifiedGO-ESP:0.01122(C)
GMAF:0.01200(C)
GO-ESP:0.00351(C)
Benign/Likely benign
(May 12, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr2:152427105
GRCh38:
Chr2:151570591
NEBnot providedGMAF:0.00020(T)Uncertain significance
(Mar 31, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr2:152432311
GRCh38:
Chr2:151575797
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.18937(C)
GMAF:0.11020(C)
GO-ESP:0.19843(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:152432811
GRCh38:
Chr2:151576297
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.03166(T)
GMAF:0.07790(T)
GO-ESP:0.03069(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:152466406
GRCh38:
Chr2:151609892
NEBnot providedGO-ESP:0.00007(A)Uncertain significance
(Dec 23, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr2:152468736
GRCh38:
Chr2:151612222
NEBnot specifiedGO-ESP:0.00774(G)
GMAF:0.00900(G)
GO-ESP:0.00259(G)
Likely benignno assertion criteria provided
40.
GRCh37:
Chr2:152468776
GRCh38:
Chr2:151612262
NEBnot specifiedGO-ESP:0.01696(C)
GMAF:0.00740(C)
GO-ESP:0.01493(C)
Benign/Likely benign
(Feb 29, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:152473911
GRCh38:
Chr2:151617397
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.01329(G)
GMAF:0.00880(G)
GO-ESP:0.02385(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:152476028
GRCh38:
Chr2:151619514
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.26874(G)
GMAF:0.21990(G)
GO-ESP:0.28911(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:152476093
GRCh38:
Chr2:151619579
NEBnot specified, not provided, Nemaline Myopathy, Recessive
GO-ESP:0.00193(T)
GMAF:0.00420(T)
GO-ESP:0.00064(T)
Conflicting interpretations of pathogenicity
(Oct 13, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr2:152476130
GRCh38:
Chr2:151619616
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.07767(T)
GMAF:0.14060(T)
GO-ESP:0.05977(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:152484315
GRCh38:
Chr2:151627801
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00284(T)
GMAF:0.00080(T)
GO-ESP:0.00347(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr2:152496526
GRCh38:
Chr2:151640012
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.30102(G)
GMAF:0.44530(G)
GO-ESP:0.25401(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:152496962
GRCh38:
Chr2:151640448
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.01055(G)
GMAF:0.01480(G)
GO-ESP:0.00375(G)
Benign/Likely benign
(Aug 23, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:152497088
GRCh38:
Chr2:151640574
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02555(A)
GMAF:0.03240(A)
GO-ESP:0.02164(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:152499143
GRCh38:
Chr2:151642629
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02129(T)
GMAF:0.02060(T)
GO-ESP:0.02359(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:152499355
GRCh38:
Chr2:151642841
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00042(C)
GMAF:0.02020(C)
GO-ESP:0.00998(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:152500449
GRCh38:
Chr2:151643935
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.34976(G)
GMAF:0.29330(G)
GO-ESP:0.41497(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:152506811
GRCh38:
Chr2:151650297
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00225(T)
GMAF:0.03490(T)
GO-ESP:0.02777(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:152511778
GRCh38:
Chr2:151655264
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.29050(C)
GMAF:0.43090(C)
GO-ESP:0.34114(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:152511874
GRCh38:
Chr2:151655360
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00856(C)
GMAF:0.02680(C)
GO-ESP:0.00848(C)
Benign/Likely benign
(Jun 20, 2016)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:152514521
GRCh38:
Chr2:151658007
NEBnot specifiedGO-ESP:0.00840(T)
GMAF:0.00440(T)
GO-ESP:0.00988(T)
Benign/Likely benign
(Jun 22, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:152515683
GRCh38:
Chr2:151659169
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.04223(A)
GMAF:0.09210(A)
GO-ESP:0.07739(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:152518714
GRCh38:
Chr2:151662200
NEBnot specifiedGMAF:0.00520(G)
GO-ESP:0.00189(G)
Conflicting interpretations of pathogenicity
(Jul 28, 2016)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:152518847
GRCh38:
Chr2:151662333
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00876(A)
GMAF:0.02700(A)
GO-ESP:0.00769(A)
Benign/Likely benign
(Jun 20, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:152520058
GRCh38:
Chr2:151663544
NEBnot specifiedGO-ESP:0.01108(A)
GMAF:0.01060(A)
GO-ESP:0.00305(A)
Benign/Likely benign
(May 20, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr2:152520101
GRCh38:
Chr2:151663587
NEBnot specifiedGO-ESP:0.00020(A)Likely benign
(Aug 20, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr2:152520258
GRCh38:
Chr2:151663744
NEBnot specifiedGO-ESP:0.01225(T)
GMAF:0.00440(T)
GO-ESP:0.01063(T)
Benign/Likely benign
(Jul 8, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:152521096
GRCh38:
Chr2:151664582
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.29511(T)
GMAF:0.43490(T)
GO-ESP:0.30184(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:152521983
GRCh38:
Chr2:151665469
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00041(G)
GMAF:0.01920(G)
GO-ESP:0.00893(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:152524373
GRCh38:
Chr2:151667859
NEBnot specifiedGMAF:0.00020(T)
GO-ESP:0.00002(T)
Uncertain significance
(Dec 29, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr2:152527572
GRCh38:
Chr2:151671058
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.66146(T)
GMAF:0.46690(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:152527608
GRCh38:
Chr2:151671094
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.19139(T)
GMAF:0.33530(T)
GO-ESP:0.18986(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:152527636
GRCh38:
Chr2:151671122
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02838(G)
GMAF:0.02720(G)
GO-ESP:0.02010(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:152531911
GRCh38:
Chr2:151675397
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.01192(G)
GMAF:0.01500(G)
GO-ESP:0.00603(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:152534078
GRCh38:
Chr2:151677564
NEBNemaline myopathy 2, autosomal recessivePathogenic
(Dec 1, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr2:152534260
GRCh38:
Chr2:151677746
NEBnot specifiedGMAF:0.00080(C)
GO-ESP:0.00213(C)
Conflicting interpretations of pathogenicity
(Dec 2, 2016)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr2:152534389
GRCh38:
Chr2:151677875
NEBNemaline myopathy 2, autosomal recessivePathogenic
(Mar 31, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr2:152534545
GRCh38:
Chr2:151678031
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00041(C)
GMAF:0.01920(C)
GO-ESP:0.00814(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:152536299
GRCh38:
Chr2:151679785
NEBnot specifiedGO-ESP:0.00720(C)
GMAF:0.00180(C)
GO-ESP:0.00655(C)
Benign
(Aug 3, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:152536427
GRCh38:
Chr2:151679913
NEBnot specifiedGO-ESP:0.01436(T)
GMAF:0.01140(T)
GO-ESP:0.01574(T)
Benign
(Mar 12, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:152536498
GRCh38:
Chr2:151679984
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.69857(A)
GMAF:0.41650(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:152537351
GRCh38:
Chr2:151680837
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.10851(T)
GMAF:0.09510(T)
GO-ESP:0.07423(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:152541487
GRCh38:
Chr2:151684973
NEBnot specifiedGO-ESP:0.00506(A)
GMAF:0.00580(A)
GO-ESP:0.00195(A)
Likely benign
(Aug 31, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr2:152548373
GRCh38:
Chr2:151691859
NEBNemaline myopathy 2, autosomal recessiveLikely pathogenic
(Jan 20, 2015)
criteria provided, single submitter
79.
GRCh37:
Chr2:152551152
GRCh38:
Chr2:151694638
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00025(C)
GMAF:0.01460(C)
GO-ESP:0.00777(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:152573981
GRCh38:
Chr2:151717467
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.68611(G)
GMAF:0.43070(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:152580766
GRCh38:
Chr2:151724252
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.02508(G)
GMAF:0.02540(G)
GO-ESP:0.02417(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:152580815
GRCh38:
Chr2:151724301
NEBnot specified, not providedGO-ESP:0.01889(G)
GMAF:0.00720(G)
GO-ESP:0.01806(G)
Conflicting interpretations of pathogenicity
(May 31, 2016)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr2:152584255
GRCh38:
Chr2:151727741
NEBnot providedGO-ESP:0.00001(C)Uncertain significance
(Nov 14, 2013)
criteria provided, single submitter
84.
GRCh37:
Chr2:152589659
GRCh38:
Chr2:151733145
NEBnot specified, Nemaline Myopathy, RecessiveGO-ESP:0.00051(A)
GMAF:0.00260(A)
GO-ESP:0.00183(A)
Conflicting interpretations of pathogenicity
(Sep 30, 2016)
criteria provided, conflicting interpretations
Format
Items per page
Sort by

Download:

Choose Destination
Support Center