| - GRCh37:
- Chr2:204821464
- GRCh38:
- Chr2:203956741
| ICOS | I159M | Immunodeficiency, common variable, 1 | Uncertain significance (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:201943606-204824322
| ALS2, CD28, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, CDK15, CFLAR, ABI2, BMPR2, C2CD6, CARF, CASP10, CASP8, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 | | Autoimmune lymphoproliferative syndrome type 2B, Immunodeficiency, common variable, 1 | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820490
- GRCh38:
- Chr2:203955767
| ICOS | D64N | Immunodeficiency, common variable, 1 | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822598
- GRCh38:
- Chr2:203957875
| ICOS | R193K | Immunodeficiency, common variable, 1 | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822596
- GRCh38:
- Chr2:203957873
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801561
- GRCh38:
- Chr2:203936838
| ICOS | F8L | Immunodeficiency, common variable, 1 | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821363
- GRCh38:
- Chr2:203956640
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821378
- GRCh38:
- Chr2:203956655
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824317
- GRCh38:
- Chr2:203959594
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820708
- GRCh38:
- Chr2:203955985
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822617
- GRCh38:
- Chr2:203957894
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821414
- GRCh38:
- Chr2:203956691
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820713
- GRCh38:
- Chr2:203955990
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820654
- GRCh38:
- Chr2:203955931
| ICOS | F119fs | Immunodeficiency, common variable, 1 | Pathogenic (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801554
- GRCh38:
- Chr2:203936831
| ICOS | W6* | Immunodeficiency, common variable, 1 | Pathogenic (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801580
- GRCh38:
- Chr2:203936857
| ICOS | I15V | Immunodeficiency, common variable, 1 | Uncertain significance (Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821403
- GRCh38:
- Chr2:203956680
| ICOS | L139R | Immunodeficiency, common variable, 1 | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821438
- GRCh38:
- Chr2:203956715
| ICOS | V151I | Immunodeficiency, common variable, 1 | Uncertain significance (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821364
- GRCh38:
- Chr2:203956641
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204735430-204735496
- GRCh38:
- Chr2:203870707-203870773
| CTLA4 | | Immunodeficiency, common variable, 1 | Likely pathogenic (Mar 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822543
- GRCh38:
- Chr2:203957820
| ICOS | D175H | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822572
- GRCh38:
- Chr2:203957849
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822542
- GRCh38:
- Chr2:203957819
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821398
- GRCh38:
- Chr2:203956675
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821365-204821366
- GRCh38:
- Chr2:203956642-203956643
| ICOS | | Immunodeficiency, common variable, 1 | Benign (Mar 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822626
- GRCh38:
- Chr2:203957903
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Mar 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820703
- GRCh38:
- Chr2:203955980
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Apr 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820343
- GRCh38:
- Chr2:203955620
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821367
- GRCh38:
- Chr2:203956644
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820486
- GRCh38:
- Chr2:203955763
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822618
- GRCh38:
- Chr2:203957895
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821393
- GRCh38:
- Chr2:203956670
| ICOS | C136R | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822582-204822593
- GRCh38:
- Chr2:203957859-203957870
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:201943606-204824322
| ALS2, BMPR2, CYP20A1, FAM117B, FLACC1, C2CD6, CARF, ABI2, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 | | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, Immunodeficiency, common variable, 1, Autoimmune lymphoproliferative syndrome type 2B
| Pathogenic (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820618
- GRCh38:
- Chr2:203955895
| ICOS | Y106* | Immunodeficiency, common variable, 1 | Pathogenic (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822567
- GRCh38:
- Chr2:203957844
| ICOS | M183V | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820535
- GRCh38:
- Chr2:203955812
| ICOS | S79R | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820356
- GRCh38:
- Chr2:203955633
| ICOS | | not provided, Immunodeficiency, common variable, 1 | Uncertain significance (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:204820339-204824322
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801599
- GRCh38:
- Chr2:203936876
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801578
- GRCh38:
- Chr2:203936855
| ICOS | R14H | Immunodeficiency, common variable, 1 | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822529
- GRCh38:
- Chr2:203957806
| ICOS | S170L | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820385
- GRCh38:
- Chr2:203955662
| ICOS | E29K | Immunodeficiency, common variable, 1 | Uncertain significance (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821483
- GRCh38:
- Chr2:203956760
| ICOS | K166E | Immunodeficiency, common variable, 1 | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822534
- GRCh38:
- Chr2:203957811
| ICOS | S172G | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820361
- GRCh38:
- Chr2:203955638
| ICOS | E21* | Immunodeficiency, common variable, 1 | Pathogenic (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822604
- GRCh38:
- Chr2:203957881
| ICOS | T195I | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824283
- GRCh38:
- Chr2:203959560
| ICOS | | Immunodeficiency, common variable, 1, not provided | Benign (Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:204821425
- GRCh38:
- Chr2:203956702
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824321
- GRCh38:
- Chr2:203959598
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820636
- GRCh38:
- Chr2:203955913
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jan 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820690
- GRCh38:
- Chr2:203955967
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820477
- GRCh38:
- Chr2:203955754
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Oct 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821458
- GRCh38:
- Chr2:203956735
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821389
- GRCh38:
- Chr2:203956666
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (May 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820594
- GRCh38:
- Chr2:203955871
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (May 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820701
- GRCh38:
- Chr2:203955978
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801546
- GRCh38:
- Chr2:203936823
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822536
- GRCh38:
- Chr2:203957813
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822587
- GRCh38:
- Chr2:203957864
| ICOS | | Immunodeficiency, common variable, 1 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822516-204822517
- GRCh38:
- Chr2:203957793-203957794
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820676
- GRCh38:
- Chr2:203955953
| ICOS | G126R | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822600
- GRCh38:
- Chr2:203957877
| ICOS | L194I | Immunodeficiency, common variable, 1 | Uncertain significance (Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820429
- GRCh38:
- Chr2:203955706
| ICOS | K43N | Immunodeficiency, common variable, 1 | Uncertain significance (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821453
- GRCh38:
- Chr2:203956730
| ICOS | L156V | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801582
- GRCh38:
- Chr2:203936859
| ICOS | I15M | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820571
- GRCh38:
- Chr2:203955848
| ICOS | S91G | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820428
- GRCh38:
- Chr2:203955705
| ICOS | K43R | Immunodeficiency, common variable, 1 | Uncertain significance (Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:104160707
- GRCh38:
- Chr10:102400950
| NFKB2 | R616W, R658W | Immunodeficiency, common variable, 10 | Uncertain significance (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820371
- GRCh38:
- Chr2:203955648
| ICOS | G24V | Inborn genetic diseases, Immunodeficiency, common variable, 1 | Uncertain significance (Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:204801550
- GRCh38:
- Chr2:203936827
| ICOS | L5F | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820479
- GRCh38:
- Chr2:203955756
| ICOS | I61fs | Immunodeficiency, common variable, 1 | Pathogenic (Jun 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822532
- GRCh38:
- Chr2:203957809
| ICOS | S171Y | Immunodeficiency, common variable, 1 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825347
- GRCh38:
- Chr2:203960624
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825261
- GRCh38:
- Chr2:203960538
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204801579
- GRCh38:
- Chr2:203936856
| ICOS | | Immunodeficiency, common variable, 1 | Conflicting interpretations of pathogenicity (Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:204801514
- GRCh38:
- Chr2:203936791
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204826270
- GRCh38:
- Chr2:203961547
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204826223
- GRCh38:
- Chr2:203961500
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824916
- GRCh38:
- Chr2:203960193
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824834
- GRCh38:
- Chr2:203960111
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824796
- GRCh38:
- Chr2:203960073
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824721
- GRCh38:
- Chr2:203959998
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204826191
- GRCh38:
- Chr2:203961468
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825779
- GRCh38:
- Chr2:203961056
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825738
- GRCh38:
- Chr2:203961015
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825622
- GRCh38:
- Chr2:203960899
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204824395
- GRCh38:
- Chr2:203959672
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822530
- GRCh38:
- Chr2:203957807
| ICOS | | Immunodeficiency, common variable, 1 | Conflicting interpretations of pathogenicity (Oct 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:204825591
- GRCh38:
- Chr2:203960868
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825494
- GRCh38:
- Chr2:203960771
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204825459
- GRCh38:
- Chr2:203960736
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204821482
- GRCh38:
- Chr2:203956759
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820406
- GRCh38:
- Chr2:203955683
| ICOS | G36R | not provided, Immunodeficiency, common variable, 1 | Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:204822543
- GRCh38:
- Chr2:203957820
| ICOS | D175N | Immunodeficiency, common variable, 1 | Uncertain significance (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820529
- GRCh38:
- Chr2:203955806
| ICOS | I77V | Inborn genetic diseases, Immunodeficiency, common variable, 1 | Uncertain significance (Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:204820377
- GRCh38:
- Chr2:203955654
| ICOS | A26D | Immunodeficiency, common variable, 1 | Uncertain significance (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204822609
- GRCh38:
- Chr2:203957886
| ICOS | | Immunodeficiency, common variable, 1 | Uncertain significance (Dec 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204731519-204824342
| CTLA4, ICOS | | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, Immunodeficiency, common variable, 1 | Pathogenic (Jun 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204820656
- GRCh38:
- Chr2:203955933
| ICOS | F119S | Inherited Immunodeficiency Diseases, Immunodeficiency, common variable, 1 | Conflicting interpretations of pathogenicity (May 19, 2022) | criteria provided, conflicting interpretations |