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Items: 46

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153994224
GRCh38:
ChrX:154765949
DKC1Dyskeratosis congenita X-linkednot providedno assertion provided
2.
GRCh37:
ChrX:153993800-153993801
GRCh38:
ChrX:154765525-154765526
DKC1Dyskeratosis congenita X-linkednot providedno assertion provided
3.
GRCh37:
ChrX:153999083
GRCh38:
ChrX:154770808
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
4.
GRCh37:
ChrX:153999079
GRCh38:
ChrX:154770804
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
5.
GRCh37:
ChrX:153999067
GRCh38:
ChrX:154770792
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
6.
GRCh37:
ChrX:153999067
GRCh38:
ChrX:154770792
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
7.
GRCh37:
ChrX:153999059
GRCh38:
ChrX:154770784
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
8.
GRCh37:
ChrX:153993725
GRCh38:
ChrX:154765450
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
9.
GRCh37:
ChrX:153997581
GRCh38:
ChrX:154769306
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
10.
GRCh37:
ChrX:153997508
GRCh38:
ChrX:154769233
DKC1Dyskeratosis congenita X-linkedGO-ESP:0.00019(C)Pathogenic
(May 10, 2012)
no assertion criteria provided
11.
GRCh37:
ChrX:153991245
GRCh38:
ChrX:154762970
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
12.
GRCh37:
ChrX:153995295
GRCh38:
ChrX:154767020
DKC1Dyskeratosis congenita X-linked, not providedConflicting interpretations of pathogenicity
(Nov 5, 2012)
criteria provided, conflicting interpretations
13.
GRCh37:
ChrX:153993186
GRCh38:
ChrX:154764911
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
14.
GRCh37:
ChrX:153994214
GRCh38:
ChrX:154765939
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
15.
GRCh37:
ChrX:153994210
GRCh38:
ChrX:154765935
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
16.
GRCh37:
ChrX:153994206
GRCh38:
ChrX:154765931
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
17.
GRCh37:
ChrX:153994204
GRCh38:
ChrX:154765929
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
18.
GRCh37:
ChrX:153991099
GRCh38:
ChrX:154762824
DKC1Dyskeratosis congenita X-linkedGMAF:0.00030(G)Pathogenic
(May 10, 2012)
no assertion criteria provided
19.
GRCh37:
ChrX:153993761
GRCh38:
ChrX:154765486
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
20.
GRCh37:
ChrX:154002947
GRCh38:
ChrX:154774672
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
21.
GRCh37:
ChrX:154002944
GRCh38:
ChrX:154774669
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
22.
GRCh37:
ChrX:153993755
GRCh38:
ChrX:154765480
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
23.
GRCh37:
ChrX:154002925
GRCh38:
ChrX:154774650
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
24.
GRCh37:
ChrX:154002914
GRCh38:
ChrX:154774639
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
25.
GRCh37:
ChrX:153993749
GRCh38:
ChrX:154765474
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
26.
GRCh37:
ChrX:154002877
GRCh38:
ChrX:154774602
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
27.
GRCh37:
ChrX:154001520
GRCh38:
ChrX:154773245
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
28.
GRCh37:
ChrX:154001519
GRCh38:
ChrX:154773244
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
29.
GRCh37:
ChrX:154001444
GRCh38:
ChrX:154773169
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
30.
GRCh37:
ChrX:154001419
GRCh38:
ChrX:154773144
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
31.
GRCh37:
ChrX:154001418
GRCh38:
ChrX:154773143
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
32.
DKC1Dyskeratosis congenita X-linkedPathogenic
(Aug 15, 2008)
no assertion criteria provided
33.
GRCh37:
ChrX:154001438
GRCh38:
ChrX:154773163
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 1, 2005)
no assertion criteria provided
34.
GRCh37:
ChrX:153993725
GRCh38:
ChrX:154765450
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
35.
GRCh37:
ChrX:153993747
GRCh38:
ChrX:154765472
DKC1Dyskeratosis congenita X-linked, Hoyeraal Hreidarsson syndromePathogenic
(May 10, 2012)
no assertion criteria provided
36.
GRCh37:
ChrX:153994588
GRCh38:
ChrX:154766313
DKC1Dyskeratosis congenita X-linked, Hoyeraal Hreidarsson syndromePathogenic
(May 10, 2012)
no assertion criteria provided
37.
GRCh37:
ChrX:153993780
GRCh38:
ChrX:154765505
DKC1Dyskeratosis congenita X-linked, Hoyeraal Hreidarsson syndromePathogenic
(May 10, 2012)
no assertion criteria provided
38.
DKC1Dyskeratosis congenita X-linkedPathogenic
(Apr 1, 2001)
no assertion criteria provided
39.
DKC1Dyskeratosis congenita X-linkedPathogenic
(Jun 26, 2002)
no assertion criteria provided
40.
GRCh38:
ChrX:154776372-154778319
DKC1Dyskeratosis congenita X-linkedPathogenic
(Aug 15, 1999)
no assertion criteria provided
41.
GRCh37:
ChrX:154001427
GRCh38:
ChrX:154773152
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
42.
GRCh37:
ChrX:154002926
GRCh38:
ChrX:154774651
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
43.
GRCh37:
ChrX:153994224-153994225
GRCh38:
ChrX:154765949-154765950
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 1, 1998)
no assertion criteria provided
44.
GRCh37:
ChrX:153993753
GRCh38:
ChrX:154765478
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
45.
GRCh37:
ChrX:153993743-153993745
GRCh38:
ChrX:154765468-154765470
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
46.
GRCh37:
ChrX:153993740
GRCh38:
ChrX:154765465
DKC1Dyskeratosis congenita X-linkedPathogenic
(May 10, 2012)
no assertion criteria provided
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