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Items: 83

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:43029314
GRCh38:
Chr15:42737116
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00400(T)
GO-ESP:0.00136(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr15:43029304
GRCh38:
Chr15:42737106
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00006(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr15:43029244
GRCh38:
Chr15:42737046
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00040(G)
GO-ESP:0.00020(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr15:43028912
GRCh38:
Chr15:42736714
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00460(A)
GO-ESP:0.02313(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr15:43028832
GRCh38:
Chr15:42736634
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00280(G)
GO-ESP:0.00387(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:43028814
GRCh38:
Chr15:42736616
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr15:43028813
GRCh38:
Chr15:42736615
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(A)
GO-ESP:0.00171(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr15:43028059
GRCh38:
Chr15:42735861
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00140(T)
GO-ESP:0.00088(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:43027880
GRCh38:
Chr15:42735682
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:43027387
GRCh38:
Chr15:42735189
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00032(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:43026181
GRCh38:
Chr15:42733983
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr15:43024564-43024569
GRCh38:
Chr15:42732366-42732371
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr15:43024540
GRCh38:
Chr15:42732342
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00060(C)
GO-ESP:0.00245(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr15:43023539
GRCh38:
Chr15:42731341
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr15:43023503
GRCh38:
Chr15:42731305
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00011(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr15:43023430
GRCh38:
Chr15:42731232
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00060(T)
GO-ESP:0.00010(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr15:43023163
GRCh38:
Chr15:42730965
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00200(C)
GO-ESP:0.00328(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:43023162
GRCh38:
Chr15:42730964
CDAN1Congenital dyserythropoietic anemiaGMAF:0.01320(A)
GO-ESP:0.00351(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr15:43023112
GRCh38:
Chr15:42730914
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00013(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr15:43022970
GRCh38:
Chr15:42730772
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00029(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:43022954
GRCh38:
Chr15:42730756
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(T)
GO-ESP:0.00012(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr15:43022911
GRCh38:
Chr15:42730713
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00200(A)
GO-ESP:0.00070(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr15:43022391
GRCh38:
Chr15:42730193
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00003(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr15:43021812
GRCh38:
Chr15:42729614
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00003(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr15:43021767
GRCh38:
Chr15:42729569
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00007(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr15:43021540
GRCh38:
Chr15:42729342
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:43021523
GRCh38:
Chr15:42729325
CDAN1Congenital dyserythropoietic anemiaGMAF:0.01360(A)
GO-ESP:0.00348(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr15:43021452
GRCh38:
Chr15:42729254
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00005(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr15:43021290
GRCh38:
Chr15:42729092
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(A)
GO-ESP:0.00006(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr15:43020954
GRCh38:
Chr15:42728756
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00600(T)
GO-ESP:0.00177(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr15:43020904
GRCh38:
Chr15:42728706
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00300(C)
GO-ESP:0.00177(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr15:43020476
GRCh38:
Chr15:42728278
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(T)
GO-ESP:0.00030(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr15:43020402
GRCh38:
Chr15:42728204
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00005(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr15:43020236
GRCh38:
Chr15:42728038
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00040(A)
GO-ESP:0.00034(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:43019980
GRCh38:
Chr15:42727782
CDAN1Congenital dyserythropoietic anemiaGMAF:0.01240(A)
GO-ESP:0.02265(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr15:43019931
GRCh38:
Chr15:42727733
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00030(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr15:43018570
GRCh38:
Chr15:42726372
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr15:43018518
GRCh38:
Chr15:42726320
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00200(T)
GO-ESP:0.01556(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr15:43018503
GRCh38:
Chr15:42726305
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(T)
GO-ESP:0.00041(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr15:43017753
GRCh38:
Chr15:42725555
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00007(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr15:43016825
GRCh38:
Chr15:42724627
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr15:43016783
GRCh38:
Chr15:42724585
CDAN1Congenital dyserythropoietic anemiaGO-ESP:0.00009(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr15:43016631
GRCh38:
Chr15:42724433
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr15:43016547
GRCh38:
Chr15:42724349
CDAN1Congenital dyserythropoietic anemiaGMAF:0.46190(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr15:43016475
GRCh38:
Chr15:42724277
CDAN1Congenital dyserythropoietic anemiaGMAF:0.45190(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr15:43016466
GRCh38:
Chr15:42724268
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr15:43016433-43016436
GRCh38:
Chr15:42724235-42724238
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr15:43016340
GRCh38:
Chr15:42724142
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr15:43016224-43016226
GRCh38:
Chr15:42724026-42724028
CDAN1Congenital dyserythropoietic anemiaGMAF:0.07390(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr15:43016089
GRCh38:
Chr15:42723891
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr15:43015967
GRCh38:
Chr15:42723769
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr15:43015907-43015910
GRCh38:
Chr15:42723709-42723712
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00220(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr15:43015901
GRCh38:
Chr15:42723703
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr15:43015862
GRCh38:
Chr15:42723664
CDAN1Congenital dyserythropoietic anemiaGMAF:0.00020(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr15:43027835
GRCh38:
Chr15:42735637
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.09650(T)
GO-ESP:0.03370(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:43028511
GRCh38:
Chr15:42736313
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.07430(C)
GO-ESP:0.02818(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:43028592
GRCh38:
Chr15:42736394
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.26060(A)
GO-ESP:0.24716(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:43028626
GRCh38:
Chr15:42736428
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.07610(A)
GO-ESP:0.03942(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:43017426
GRCh38:
Chr15:42725228
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.46150(G)
GO-ESP:0.30381(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:43017676
GRCh38:
Chr15:42725478
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.07850(A)
GO-ESP:0.03322(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:43018559
GRCh38:
Chr15:42726361
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.07890(T)
GO-ESP:0.06200(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:43020228
GRCh38:
Chr15:42728030
CDAN1not specified, Congenital dyserythropoietic anemiaGO-ESP:0.00004(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr15:43021505
GRCh38:
Chr15:42729307
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.00140(T)
GO-ESP:0.00152(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr15:43021563
GRCh38:
Chr15:42729365
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.23620(A)
GO-ESP:0.20896(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:43021986
GRCh38:
Chr15:42729788
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.42410(A)
GO-ESP:0.22550(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:43022776
GRCh38:
Chr15:42730578
CDAN1not specifiedGMAF:0.02380(T)
GO-ESP:0.00756(T)
Likely benigncriteria provided, single submitter
67.
GRCh37:
Chr15:43023161
GRCh38:
Chr15:42730963
CDAN1not specified, Congenital dyserythropoietic anemiaGMAF:0.06630(T)
GO-ESP:0.02445(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:43020434
GRCh38:
Chr15:42728236
CDAN1not specified, not provided, Congenital dyserythropoietic anemia
GMAF:0.01280(A)
GO-ESP:0.00456(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:42858959-44139304
GRCh38:
Chr15:42566761-43847106
See casesLikely pathogenic
(Nov 4, 2011)
no assertion criteria provided
70.
GRCh37:
Chr15:43028683
GRCh38:
Chr15:42736485
CDAN1Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemiaGMAF:0.00460(T)
GO-ESP:0.00198(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr15:43028749
GRCh38:
Chr15:42736551
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
GMAF:0.46070(A)
GO-ESP:0.41316(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:43018584
GRCh38:
Chr15:42726386
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Sep 1, 2011)
no assertion criteria provided
73.
GRCh37:
Chr15:43020983
GRCh38:
Chr15:42728785
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
GO-ESP:0.26961(A)
GMAF:0.26300(A)
GO-ESP:0.21579(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr15:43022830
GRCh38:
Chr15:42730632
CDAN1Congenital dyserythropoietic anemia, type IGMAF:0.00040(A)
GO-ESP:0.00004(A)
Pathogenic
(Sep 1, 2011)
no assertion criteria provided
75.
GRCh37:
Chr15:43023482
GRCh38:
Chr15:42731284
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
GO-ESP:0.41626(C)
GMAF:0.45370(C)
GO-ESP:0.29333(C)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:43028913
GRCh38:
Chr15:42736715
CDAN1Congenital dyserythropoietic anemia, type IGO-ESP:0.00022(C)Pathogenic
(Sep 1, 2011)
no assertion criteria provided
77.
GRCh37:
Chr15:43027315-43027317
GRCh38:
Chr15:42735117-42735119
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Jun 15, 2006)
no assertion criteria provided
78.
GRCh37:
Chr15:43023404
GRCh38:
Chr15:42731206
CDAN1Congenital dyserythropoietic anemia, type IGO-ESP:0.00085(T)
GMAF:0.00200(T)
GO-ESP:0.00029(T)
Pathogenic
(Aug 1, 2005)
no assertion criteria provided
79.
GRCh37:
Chr15:43021264
GRCh38:
Chr15:42729066
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Dec 1, 2002)
no assertion criteria provided
80.
GRCh37:
Chr15:43022955
GRCh38:
Chr15:42730757
CDAN1Congenital dyserythropoietic anemia, type I, not providedGO-ESP:0.00008(A)Pathogenic/Likely pathogenic
(Aug 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr15:43023473
GRCh38:
Chr15:42731275
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Jul 1, 2003)
no assertion criteria provided
82.
GRCh37:
Chr15:43017748
GRCh38:
Chr15:42725550
CDAN1Congenital dyserythropoietic anemia, type IGO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Pathogenic
(Sep 1, 2011)
no assertion criteria provided
83.
GRCh37:
Chr15:43018588
GRCh38:
Chr15:42726390
CDAN1Congenital dyserythropoietic anemia, type IGO-ESP:0.00004(A)Pathogenic
(Sep 1, 2011)
no assertion criteria provided
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