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

Download:

Choose Destination

Search results

Items: 1 to 100 of 228

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 2003)
no assertion criteria provided
2.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 2001)
no assertion criteria provided
3.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 4, 2001)
no assertion criteria provided
4.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
5.
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
6.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
7.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
8.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
9.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
10.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
11.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
12.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
13.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
14.
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
15.
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
16.
BTKHypogammaglobulinemia, X-linkedPathogenic
(Jun 1, 1996)
no assertion criteria provided
17.
GRCh37:
ChrX:99931059-120328627
Premature ovarian failurePathogenic
(Jan 7, 2015)
criteria provided, single submitter
18.
GRCh37:
ChrX:100604530-100604531
GRCh38:
ChrX:101349542-101349543
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
ChrX:100604531
GRCh38:
ChrX:101349543
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
ChrX:100604539
GRCh38:
ChrX:101349551
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
ChrX:100604681
GRCh38:
ChrX:101349693
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
ChrX:100604757
GRCh38:
ChrX:101349769
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
ChrX:100604875
GRCh38:
ChrX:101349887
BTKnot providedLikely pathogenic
(Jul 20, 2015)
criteria provided, single submitter
24.
GRCh37:
ChrX:100604898
GRCh38:
ChrX:101349910
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
25.
GRCh37:
ChrX:100604953
GRCh38:
ChrX:101349965
BTKnot specifiedLikely benign
(Dec 17, 2014)
criteria provided, single submitter
26.
GRCh37:
ChrX:100608184
GRCh38:
ChrX:101353196
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
27.
GRCh37:
ChrX:100608191
GRCh38:
ChrX:101353203
BTKX-linked agammaglobulinemia, not specified, Isolated Growth Hormone Deficiency
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:100608201
GRCh38:
ChrX:101353213
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
29.
GRCh37:
ChrX:100608202
GRCh38:
ChrX:101353214
BTKnot providedLikely pathogenic
(May 23, 2016)
criteria provided, single submitter
30.
GRCh37:
ChrX:100608252
GRCh38:
ChrX:101353264
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
31.
GRCh37:
ChrX:100608267
GRCh38:
ChrX:101353279
BTKnot specifiedUncertain significance
(Feb 18, 2016)
criteria provided, single submitter
32.
GRCh37:
ChrX:100608270
GRCh38:
ChrX:101353282
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
33.
GRCh37:
ChrX:100608285
GRCh38:
ChrX:101353297
BTKnot providedLikely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
34.
GRCh37:
ChrX:100608317
GRCh38:
ChrX:101353329
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
35.
GRCh37:
ChrX:100608324
GRCh38:
ChrX:101353336
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
36.
GRCh37:
ChrX:100608330
GRCh38:
ChrX:101353342
BTKnot providedLikely pathogenic
(Jan 18, 2016)
criteria provided, single submitter
37.
GRCh37:
ChrX:100608333
GRCh38:
ChrX:101353345
BTKnot providedLikely pathogenic
(Feb 28, 2017)
criteria provided, single submitter
38.
GRCh37:
ChrX:100608853
GRCh38:
ChrX:101353865
BTKX-linked agammaglobulinemia with growth hormone deficiencyPathogenic
(Jun 13, 1994)
no assertion criteria provided
39.
GRCh37:
ChrX:100608867
GRCh38:
ChrX:101353879
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
40.
GRCh37:
ChrX:100608911
GRCh38:
ChrX:101353923
BTKnot providedLikely pathogenic
(Mar 8, 2016)
criteria provided, single submitter
41.
GRCh37:
ChrX:100608923
GRCh38:
ChrX:101353935
BTKX-linked agammaglobulinemia, not providedPathogenic
(Aug 20, 2015)
criteria provided, single submitter
42.
GRCh37:
ChrX:100608924
GRCh38:
ChrX:101353936
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
43.
GRCh37:
ChrX:100608928-100608935
GRCh38:
ChrX:101353940-101353947
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
44.
GRCh37:
ChrX:100608978
GRCh38:
ChrX:101353990
BTKnot providedPathogenic
(Mar 31, 2016)
criteria provided, single submitter
45.
GRCh37:
ChrX:100609624
GRCh38:
ChrX:101354636
BTKX-linked agammaglobulinemia with growth hormone deficiencyPathogenic
(Oct 1, 1994)
no assertion criteria provided
46.
GRCh37:
ChrX:100609669
GRCh38:
ChrX:101354681
BTKnot providedPathogenic
(Mar 25, 2015)
criteria provided, single submitter
47.
GRCh37:
ChrX:100609675
GRCh38:
ChrX:101354687
BTKX-linked agammaglobulinemiaPathogenic
(Apr 1, 2012)
criteria provided, single submitter
48.
GRCh37:
ChrX:100609676
GRCh38:
ChrX:101354688
BTKnot providedPathogenic
(Sep 29, 2016)
criteria provided, single submitter
49.
GRCh37:
ChrX:100611047
GRCh38:
ChrX:101356059
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
50.
GRCh37:
ChrX:100611048
GRCh38:
ChrX:101356060
BTKX-linked agammaglobulinemia, not providedPathogenic
(Sep 12, 2016)
criteria provided, single submitter
51.
GRCh37:
ChrX:100611090
GRCh38:
ChrX:101356102
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
52.
GRCh37:
ChrX:100611095
GRCh38:
ChrX:101356107
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
53.
GRCh37:
ChrX:100611100
GRCh38:
ChrX:101356112
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
54.
GRCh37:
ChrX:100611151
GRCh38:
ChrX:101356163
BTKX-linked agammaglobulinemiaPathogenic
(Aug 18, 2011)
criteria provided, single submitter
55.
GRCh37:
ChrX:100611164
GRCh38:
ChrX:101356176
BTKNeoplasm of breastLikely pathogenic
(Dec 26, 2014)
no assertion criteria provided
56.
GRCh37:
ChrX:100611165
GRCh38:
ChrX:101356177
BTKChronic lymphocytic leukemia, Neoplasm of breastLikely pathogenic
(Dec 26, 2014)
no assertion criteria provided
57.
GRCh37:
ChrX:100611833
GRCh38:
ChrX:101356845
BTKX-linked agammaglobulinemiaPathogenic
(Apr 1, 2012)
no assertion criteria provided
58.
GRCh37:
ChrX:100611846
GRCh38:
ChrX:101356858
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
59.
GRCh37:
ChrX:100611898
GRCh38:
ChrX:101356910
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
60.
GRCh37:
ChrX:100611936
GRCh38:
ChrX:101356948
BTKnot providedPathogenic
(Mar 6, 2017)
criteria provided, single submitter
61.
GRCh37:
ChrX:100612549
GRCh38:
ChrX:101357561
BTKX-linked agammaglobulinemia with growth hormone deficiencyPathogenic
(Oct 1, 1994)
no assertion criteria provided
62.
GRCh37:
ChrX:100612571
GRCh38:
ChrX:101357583
BTKnot providedPathogenic
(Jul 17, 2015)
criteria provided, single submitter
63.
GRCh37:
ChrX:100613318
GRCh38:
ChrX:101358330
BTKHypoagammaglobulinemia, X-linkedPathogenic
(Oct 1, 1994)
no assertion criteria provided
64.
GRCh37:
ChrX:100613336
GRCh38:
ChrX:101358348
BTKnot providedPathogenic
(Oct 25, 2016)
criteria provided, single submitter
65.
GRCh37:
ChrX:100613399
GRCh38:
ChrX:101358411
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
66.
GRCh37:
ChrX:100613402
GRCh38:
ChrX:101358414
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
67.
GRCh37:
ChrX:100613625
GRCh38:
ChrX:101358637
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
ChrX:100613660
GRCh38:
ChrX:101358672
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
69.
GRCh37:
ChrX:100613671-100613673
GRCh38:
ChrX:101358683-101358685
BTKnot providedLikely pathogenic
(Jan 15, 2016)
criteria provided, single submitter
70.
GRCh37:
ChrX:100613686
GRCh38:
ChrX:101358698
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
71.
GRCh37:
ChrX:100613694
GRCh38:
ChrX:101358706
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
ChrX:100614274
GRCh38:
ChrX:101359286
BTKnot specifiedUncertain significance
(May 31, 2016)
criteria provided, single submitter
73.
GRCh37:
ChrX:100614280
GRCh38:
ChrX:101359292
BTKnot providedPathogenic
(Aug 13, 2015)
criteria provided, single submitter
74.
GRCh37:
ChrX:100614313
GRCh38:
ChrX:101359325
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
75.
GRCh37:
ChrX:100614323
GRCh38:
ChrX:101359335
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
ChrX:100614336
GRCh38:
ChrX:101359348
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
77.
GRCh37:
ChrX:100615140
GRCh38:
ChrX:101360152
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
78.
GRCh37:
ChrX:100615141
GRCh38:
ChrX:101360153
BTKX-linked agammaglobulinemiaUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
79.
GRCh37:
ChrX:100615569
GRCh38:
ChrX:101360581
BTKX-linked agammaglobulinemiaPathogenic
(Jan 1, 1994)
no assertion criteria provided
80.
GRCh37:
ChrX:100615577
GRCh38:
ChrX:101360589
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
81.
GRCh37:
ChrX:100615614
GRCh38:
ChrX:101360626
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
82.
GRCh37:
ChrX:100615663
GRCh38:
ChrX:101360675
BTKnot providedPathogenic
(Mar 31, 2015)
criteria provided, single submitter
83.
GRCh37:
ChrX:100615717
GRCh38:
ChrX:101360729
BTKX-linked agammaglobulinemia, not specified, Isolated Growth Hormone Deficiency
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
ChrX:100617192
GRCh38:
ChrX:101362204
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
85.
GRCh37:
ChrX:100617534
GRCh38:
ChrX:101362546
BTKX-linked agammaglobulinemia, Isolated Growth Hormone DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
ChrX:100617594-100617597
GRCh38:
ChrX:101362606-101362609
BTKX-linked agammaglobulinemiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
87.
GRCh37:
ChrX:100617600
GRCh38:
ChrX:101362612
BTKnot providedPathogenic
(Dec 23, 2015)
criteria provided, single submitter
88.
GRCh37:
ChrX:100624843
GRCh38:
ChrX:101369855
BTKX-linked agammaglobulinemiaUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
89.
GRCh37:
ChrX:100624988
GRCh38:
ChrX:101370000
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
90.
GRCh37:
ChrX:100625007
GRCh38:
ChrX:101370019
BTKnot providedLikely pathogenic
(Nov 11, 2015)
criteria provided, single submitter
91.
GRCh37:
ChrX:100625039
GRCh38:
ChrX:101370051
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
92.
GRCh37:
ChrX:100625068
GRCh38:
ChrX:101370080
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
93.
GRCh37:
ChrX:100625069
GRCh38:
ChrX:101370081
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
94.
GRCh37:
ChrX:100626623
GRCh38:
ChrX:101371635
BTKnot providedPathogenic
(Jul 6, 2016)
criteria provided, single submitter
95.
GRCh37:
ChrX:100629533-100629536
GRCh38:
ChrX:101374545-101374548
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
96.
GRCh37:
ChrX:100629549
GRCh38:
ChrX:101374561
BTKnot providedPathogenic
(Jan 5, 2017)
criteria provided, single submitter
97.
GRCh37:
ChrX:100629630
GRCh38:
ChrX:101374642
BTKnot specifiedUncertain significance
(Aug 2, 2016)
criteria provided, single submitter
98.
GRCh37:
ChrX:100630121
GRCh38:
ChrX:101375133
BTKX-linked agammaglobulinemia, not specified, not provided,
Isolated Growth Hormone Deficiency
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
ChrX:100630128-100630129
GRCh38:
ChrX:101375140-101375141
BTKX-linked agammaglobulinemiaPathogenic
(Oct 1, 1994)
no assertion criteria provided
100.
GRCh37:
ChrX:100630152
GRCh38:
ChrX:101375164
BTKAgammaglobulinemiaLikely pathogenic
(May 13, 2016)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination
Support Center