U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 153

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:204821464
GRCh38:
Chr2:203956741
ICOSI159MImmunodeficiency, common variable, 1Uncertain significance
(Apr 29, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr2:201943606-204824322
Autoimmune lymphoproliferative syndrome type 2B, Immunodeficiency, common variable, 1Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr2:204820490
GRCh38:
Chr2:203955767
ICOSD64NImmunodeficiency, common variable, 1Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:204822598
GRCh38:
Chr2:203957875
ICOSR193KImmunodeficiency, common variable, 1Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:204822596
GRCh38:
Chr2:203957873
ICOSImmunodeficiency, common variable, 1Likely benign
(Oct 5, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:204801561
GRCh38:
Chr2:203936838
ICOSF8LImmunodeficiency, common variable, 1Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:204821363
GRCh38:
Chr2:203956640
ICOSImmunodeficiency, common variable, 1Likely benign
(Apr 17, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:204821378
GRCh38:
Chr2:203956655
ICOSImmunodeficiency, common variable, 1Likely benign
(Mar 11, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:204824317
GRCh38:
Chr2:203959594
ICOSImmunodeficiency, common variable, 1Likely benign
(Feb 22, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:204820708
GRCh38:
Chr2:203955985
ICOSImmunodeficiency, common variable, 1Likely benign
(Aug 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:204822617
GRCh38:
Chr2:203957894
ICOSImmunodeficiency, common variable, 1Likely benign
(Dec 27, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr2:204821414
GRCh38:
Chr2:203956691
ICOSImmunodeficiency, common variable, 1Likely benign
(Sep 3, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:204820713
GRCh38:
Chr2:203955990
ICOSImmunodeficiency, common variable, 1Likely benign
(Aug 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:204820654
GRCh38:
Chr2:203955931
ICOSF119fsImmunodeficiency, common variable, 1Pathogenic
(Jun 9, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:204801554
GRCh38:
Chr2:203936831
ICOSW6*Immunodeficiency, common variable, 1Pathogenic
(Jun 8, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:204801580
GRCh38:
Chr2:203936857
ICOSI15VImmunodeficiency, common variable, 1Uncertain significance
(Jul 10, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:204821403
GRCh38:
Chr2:203956680
ICOSL139RImmunodeficiency, common variable, 1Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:204821438
GRCh38:
Chr2:203956715
ICOSV151IImmunodeficiency, common variable, 1Uncertain significance
(Dec 19, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr2:204821364
GRCh38:
Chr2:203956641
ICOSImmunodeficiency, common variable, 1Likely benign
(Jan 7, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:204735430-204735496
GRCh38:
Chr2:203870707-203870773
CTLA4Immunodeficiency, common variable, 1Likely pathogenic
(Mar 11, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr2:204822543
GRCh38:
Chr2:203957820
ICOSD175HImmunodeficiency, common variable, 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:204822572
GRCh38:
Chr2:203957849
ICOSImmunodeficiency, common variable, 1Likely benign
(Mar 2, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:204822542
GRCh38:
Chr2:203957819
ICOSImmunodeficiency, common variable, 1Likely benign
(Jul 20, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr2:204821398
GRCh38:
Chr2:203956675
ICOSImmunodeficiency, common variable, 1Likely benign
(Aug 22, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:204821365-204821366
GRCh38:
Chr2:203956642-203956643
ICOSImmunodeficiency, common variable, 1Benign
(Mar 31, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr2:204822626
GRCh38:
Chr2:203957903
ICOSImmunodeficiency, common variable, 1Likely benign
(Mar 10, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr2:204820703
GRCh38:
Chr2:203955980
ICOSImmunodeficiency, common variable, 1Likely benign
(Apr 25, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr2:204820343
GRCh38:
Chr2:203955620
ICOSImmunodeficiency, common variable, 1Likely benign
(Nov 3, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr2:204821367
GRCh38:
Chr2:203956644
ICOSImmunodeficiency, common variable, 1Likely benign
(Aug 31, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:204820486
GRCh38:
Chr2:203955763
ICOSImmunodeficiency, common variable, 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:204822618
GRCh38:
Chr2:203957895
ICOSImmunodeficiency, common variable, 1Likely benign
(Feb 4, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:204821393
GRCh38:
Chr2:203956670
ICOSC136RImmunodeficiency, common variable, 1Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:204822582-204822593
GRCh38:
Chr2:203957859-203957870
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Aug 5, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr2:201943606-204824322
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, Immunodeficiency, common variable, 1, Autoimmune lymphoproliferative syndrome type 2B
Pathogenic
(Jun 20, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:204820618
GRCh38:
Chr2:203955895
ICOSY106*Immunodeficiency, common variable, 1Pathogenic
(Mar 15, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:204822567
GRCh38:
Chr2:203957844
ICOSM183VImmunodeficiency, common variable, 1Uncertain significance
(Sep 18, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr2:204820535
GRCh38:
Chr2:203955812
ICOSS79RImmunodeficiency, common variable, 1Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr2:204820356
GRCh38:
Chr2:203955633
ICOSnot provided, Immunodeficiency, common variable, 1Uncertain significance
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:204820339-204824322
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:204801599
GRCh38:
Chr2:203936876
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Nov 16, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr2:204801578
GRCh38:
Chr2:203936855
ICOSR14HImmunodeficiency, common variable, 1Uncertain significance
(Oct 18, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:204822529
GRCh38:
Chr2:203957806
ICOSS170LImmunodeficiency, common variable, 1Uncertain significance
(Sep 19, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr2:204820385
GRCh38:
Chr2:203955662
ICOSE29KImmunodeficiency, common variable, 1Uncertain significance
(Dec 18, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr2:204821483
GRCh38:
Chr2:203956760
ICOSK166EImmunodeficiency, common variable, 1Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:204822534
GRCh38:
Chr2:203957811
ICOSS172GImmunodeficiency, common variable, 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr2:204820361
GRCh38:
Chr2:203955638
ICOSE21*Immunodeficiency, common variable, 1Pathogenic
(Oct 24, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:204822604
GRCh38:
Chr2:203957881
ICOST195IImmunodeficiency, common variable, 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr2:204824283
GRCh38:
Chr2:203959560
ICOSImmunodeficiency, common variable, 1, not providedBenign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:204821425
GRCh38:
Chr2:203956702
ICOSImmunodeficiency, common variable, 1Likely benign
(Oct 28, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:204824321
GRCh38:
Chr2:203959598
ICOSImmunodeficiency, common variable, 1Likely benign
(Jul 5, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:204820636
GRCh38:
Chr2:203955913
ICOSImmunodeficiency, common variable, 1Likely benign
(Jan 25, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr2:204820690
GRCh38:
Chr2:203955967
ICOSImmunodeficiency, common variable, 1Likely benign
(Jun 17, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:204820477
GRCh38:
Chr2:203955754
ICOSImmunodeficiency, common variable, 1Likely benign
(Oct 7, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr2:204821458
GRCh38:
Chr2:203956735
ICOSImmunodeficiency, common variable, 1Likely benign
(May 1, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr2:204821389
GRCh38:
Chr2:203956666
ICOSImmunodeficiency, common variable, 1Likely benign
(May 15, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr2:204820594
GRCh38:
Chr2:203955871
ICOSImmunodeficiency, common variable, 1Likely benign
(May 15, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr2:204820701
GRCh38:
Chr2:203955978
ICOSImmunodeficiency, common variable, 1Likely benign
(Dec 31, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr2:204801546
GRCh38:
Chr2:203936823
ICOSImmunodeficiency, common variable, 1Likely benign
(Sep 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:204822536
GRCh38:
Chr2:203957813
ICOSImmunodeficiency, common variable, 1Likely benign
(Dec 20, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr2:204822587
GRCh38:
Chr2:203957864
ICOSImmunodeficiency, common variable, 1Likely benign
(Aug 31, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:204822516-204822517
GRCh38:
Chr2:203957793-203957794
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:204820676
GRCh38:
Chr2:203955953
ICOSG126RImmunodeficiency, common variable, 1Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr2:204822600
GRCh38:
Chr2:203957877
ICOSL194IImmunodeficiency, common variable, 1Uncertain significance
(Nov 29, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr2:204820429
GRCh38:
Chr2:203955706
ICOSK43NImmunodeficiency, common variable, 1Uncertain significance
(Dec 19, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr2:204821453
GRCh38:
Chr2:203956730
ICOSL156VImmunodeficiency, common variable, 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr2:204801582
GRCh38:
Chr2:203936859
ICOSI15MImmunodeficiency, common variable, 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:204820571
GRCh38:
Chr2:203955848
ICOSS91GImmunodeficiency, common variable, 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr2:204820428
GRCh38:
Chr2:203955705
ICOSK43RImmunodeficiency, common variable, 1Uncertain significance
(Nov 6, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr10:104160707
GRCh38:
Chr10:102400950
NFKB2R616W, R658WImmunodeficiency, common variable, 10Uncertain significance
(Oct 30, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:204820371
GRCh38:
Chr2:203955648
ICOSG24VInborn genetic diseases, Immunodeficiency, common variable, 1Uncertain significance
(Nov 21, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:204801550
GRCh38:
Chr2:203936827
ICOSL5FImmunodeficiency, common variable, 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr2:204820479
GRCh38:
Chr2:203955756
ICOSI61fsImmunodeficiency, common variable, 1Pathogenic
(Jun 26, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr2:204822532
GRCh38:
Chr2:203957809
ICOSS171YImmunodeficiency, common variable, 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr2:204825347
GRCh38:
Chr2:203960624
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr2:204825261
GRCh38:
Chr2:203960538
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr2:204801579
GRCh38:
Chr2:203936856
ICOSImmunodeficiency, common variable, 1Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr2:204801514
GRCh38:
Chr2:203936791
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr2:204826270
GRCh38:
Chr2:203961547
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr2:204826223
GRCh38:
Chr2:203961500
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr2:204824916
GRCh38:
Chr2:203960193
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr2:204824834
GRCh38:
Chr2:203960111
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr2:204824796
GRCh38:
Chr2:203960073
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr2:204824721
GRCh38:
Chr2:203959998
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr2:204826191
GRCh38:
Chr2:203961468
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr2:204825779
GRCh38:
Chr2:203961056
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr2:204825738
GRCh38:
Chr2:203961015
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr2:204825622
GRCh38:
Chr2:203960899
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr2:204824395
GRCh38:
Chr2:203959672
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr2:204822530
GRCh38:
Chr2:203957807
ICOSImmunodeficiency, common variable, 1Conflicting interpretations of pathogenicity
(Oct 18, 2021)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr2:204825591
GRCh38:
Chr2:203960868
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr2:204825494
GRCh38:
Chr2:203960771
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr2:204825459
GRCh38:
Chr2:203960736
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr2:204821482
GRCh38:
Chr2:203956759
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr2:204820406
GRCh38:
Chr2:203955683
ICOSG36Rnot provided, Immunodeficiency, common variable, 1Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:204822543
GRCh38:
Chr2:203957820
ICOSD175NImmunodeficiency, common variable, 1Uncertain significance
(Dec 31, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr2:204820529
GRCh38:
Chr2:203955806
ICOSI77VInborn genetic diseases, Immunodeficiency, common variable, 1Uncertain significance
(Dec 15, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:204820377
GRCh38:
Chr2:203955654
ICOSA26DImmunodeficiency, common variable, 1Uncertain significance
(Sep 15, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr2:204822609
GRCh38:
Chr2:203957886
ICOSImmunodeficiency, common variable, 1Uncertain significance
(Dec 20, 2019)
criteria provided, single submitter
99.
GRCh37:
Chr2:204731519-204824342
CTLA4, ICOSAutoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, Immunodeficiency, common variable, 1Pathogenic
(Jun 26, 2020)
criteria provided, single submitter
100.
GRCh37:
Chr2:204820656
GRCh38:
Chr2:203955933
ICOSF119SInherited Immunodeficiency Diseases, Immunodeficiency, common variable, 1Conflicting interpretations of pathogenicity
(May 19, 2022)
criteria provided, conflicting interpretations
Format
Items per page
Sort by
Choose Destination