| - GRCh37:
- Chr2:191874705
- GRCh38:
- Chr2:191009979
| STAT1 | Q11*, Q9* | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Pathogenic
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841731
- GRCh38:
- Chr2:190977005
| STAT1 | E579Q, E599Q, E601Q, E602Q, E612Q, E622Q, E630Q, E632Q, E634Q, E644Q | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191864392
- GRCh38:
- Chr2:190999666
| STAT1 | K165T, Q137H, Q167H, Q169H, Q179H | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841591
- GRCh38:
- Chr2:190976865
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843562-191845415
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189839216-192012929
| PMS1, NAB1, NEMP2, ASNSD1, MSTN, COL3A1, INPP1, ANKAR, HIBCH, OSGEPL1, MFSD6, STAT1, C2orf88, SLC40A1, GLS, WDR75, COL5A2, ORMDL1, STAT4 | | not provided, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191835429-192012929
| STAT4, STAT1 | | not provided, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | Conflicting interpretations of pathogenicity
(Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:191862596
- GRCh38:
- Chr2:190997870
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191848436
- GRCh38:
- Chr2:190983710
| STAT1 | N407D, N427D, N429D, N430D, N440D, N450D, N458D, N460D, N462D, N472D | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191874582
- GRCh38:
- Chr2:191009856
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859866
- GRCh38:
- Chr2:190995140
| STAT1 | Y256H, Y301H, Y259H, Y289H, Y291H | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely pathogenic
(Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859853
- GRCh38:
- Chr2:190995127
| STAT1 | P293L, P295L, P260L, P305L, P263L | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851642
- GRCh38:
- Chr2:190986916
| STAT1 | T354A, T387A, T399A, T334A, T377A, T356A, T367A, T385A, T389A, T357A | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Pathogenic
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851639
- GRCh38:
- Chr2:190986913
| STAT1 | K355E, K368E, K388E, K357E, K358E, K400E, K335E, K378E, K386E, K390E | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Pathogenic
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851631
- GRCh38:
- Chr2:190986905
| STAT1 | M337I, M360I, M380I, M388I, M390I, M359I, M402I, M357I, M370I, M392I | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851603
- GRCh38:
- Chr2:190986877
| STAT1 | L369V, L370V, L380V, L398V, L412V, L367V, L402V, L347V, L390V, L400V | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191865896
- GRCh38:
- Chr2:191001170
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191848434
- GRCh38:
- Chr2:190983708
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843737
- GRCh38:
- Chr2:190979011
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191872396
- GRCh38:
- Chr2:191007670
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191855995
- GRCh38:
- Chr2:190991269
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841548
- GRCh38:
- Chr2:190976822
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191864439
- GRCh38:
- Chr2:190999713
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191862631
- GRCh38:
- Chr2:190997905
| STAT1 | A248T, A258T, A213T, A216T, A246T | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873754
- GRCh38:
- Chr2:191009028
| STAT1 | R72C, R70C, R82C | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191849017
- GRCh38:
- Chr2:190984291
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191865792
- GRCh38:
- Chr2:191001066
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191855946
- GRCh38:
- Chr2:190991220
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191872274
- GRCh38:
- Chr2:191007548
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191844568
- GRCh38:
- Chr2:190979842
| STAT1 | P523S, P555S, P500S, P533S, P565S, P543S, P551S, P520S, P522S, P553S | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191849123
- GRCh38:
- Chr2:190984397
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191862623
- GRCh38:
- Chr2:190997897
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843690
- GRCh38:
- Chr2:190978964
| STAT1 | A536P, A556P, A558P, A587P, A569P, A601P, A589P, A591P, A559P, A579P | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873762
- GRCh38:
- Chr2:191009036
| STAT1 | Q67R, Q69R, Q79R | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841683
- GRCh38:
- Chr2:190976957
| STAT1 | I615V, I650V, I660V, I618V, I638V, I648V, I617V, I646V, I595V, I628V | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851786
- GRCh38:
- Chr2:190987060
| STAT1 | N316S, N338S, N349S, N369S, N371S, N381S, N336S, N339S | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843664
- GRCh38:
- Chr2:190978938
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839634
- GRCh38:
- Chr2:190974908
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191850334
- GRCh38:
- Chr2:190985608
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191848428
- GRCh38:
- Chr2:190983702
| STAT1 | S409R, S429R, S431R, S460R, S432R, S442R, S462R, S464R, S452R, S474R | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873762
- GRCh38:
- Chr2:191009036
| STAT1 | Q69P, Q67P, Q79P | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Pathogenic
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851650
- GRCh38:
- Chr2:190986924
| STAT1 | G353V, G364V, G384V, G374V, G396V, G331V, G351V, G354V, G382V, G386V | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Uncertain significance
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843667
- GRCh38:
- Chr2:190978941
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191847094
- GRCh38:
- Chr2:190982368
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191845365
- GRCh38:
- Chr2:190980639
| STAT1 | P505L, P536L, P485L, P508L, P540L, P550L, P528L, P507L, P518L, P538L | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191840572
- GRCh38:
- Chr2:190975846
| STAT1 | Y699N, Y713N, Y648N, Y703N, Y668N, Y670N, Y691N, Y701N, Y709N, Y671N, Y681N | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191840539
- GRCh38:
- Chr2:190975813
| STAT1 | V682I, V702I, V710I, V712I, V714I, V681I, V712M, V724I, V659I, V679I, V720I, V692I | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873838
- GRCh38:
- Chr2:191009112
| STAT1 | P54S | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191856056
- GRCh38:
- Chr2:190991330
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841720
- GRCh38:
- Chr2:190976994
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859778
- GRCh38:
- Chr2:190995052
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873819
- GRCh38:
- Chr2:191009093
| STAT1 | N50S, N48S, N60S | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191847250
- GRCh38:
- Chr2:190982524
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843606
- GRCh38:
- Chr2:190978880
| STAT1 | V607M, V615M, V564M, V584M, V617M, V586M, V587M, V597M, V619M, V629M | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851805-191851806
- GRCh38:
- Chr2:190987079-190987080
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851654
- GRCh38:
- Chr2:190986928
| STAT1 | L353V, L373V, L330V, L383V, L350V, L385V, L395V, L352V, L363V, L381V | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191862751-191862757
- GRCh38:
- Chr2:190998025-190998031
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191854324
- GRCh38:
- Chr2:190989598
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851674
- GRCh38:
- Chr2:190986948
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851778-191851780
- GRCh38:
- Chr2:190987052-190987054
| STAT1 | R341del, R338del, R340del, R371del, R318del, R351del, R383del, R373del | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191856022
- GRCh38:
- Chr2:190991296
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191864441
- GRCh38:
- Chr2:190999715
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841660
- GRCh38:
- Chr2:190976934
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839662
- GRCh38:
- Chr2:190974936
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851752
- GRCh38:
- Chr2:190987026
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191864387
- GRCh38:
- Chr2:190999661
| STAT1 | E139V, N167Y, E181V, E169V, E171V | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851762
- GRCh38:
- Chr2:190987036
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851812
- GRCh38:
- Chr2:190987086
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851642
- GRCh38:
- Chr2:190986916
| STAT1 | T334P, T354P, T357P, T367P, T385P, T399P, T356P, T377P, T387P, T389P | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191841627-191841628
- GRCh38:
- Chr2:190976901-190976902
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873768
- GRCh38:
- Chr2:191009042
| STAT1 | D67G, D77G, D65G | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843625
- GRCh38:
- Chr2:190978899
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191856061
- GRCh38:
- Chr2:190991335
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191835427-191835433
- GRCh38:
- Chr2:190970701-190970707
| STAT1 | V717fs, V730fs, V740fs, V746fs, V758fs, V762fs, V671fs, V748fs, V750fs, V697fs, V719fs, V720fs, V752fs | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191849129
- GRCh38:
- Chr2:190984403
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191845345
- GRCh38:
- Chr2:190980619
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
| Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843601
- GRCh38:
- Chr2:190978875
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843736
- GRCh38:
- Chr2:190979010
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191849137-191849139
- GRCh38:
- Chr2:190984411-190984413
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191850399
- GRCh38:
- Chr2:190985673
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191872271
- GRCh38:
- Chr2:191007545
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191865862
- GRCh38:
- Chr2:191001136
| STAT1 | V136L, V134L, V146L | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843588
- GRCh38:
- Chr2:190978862
| STAT1 | G592R, G593R, G621R, G635R, G590R, G623R, G570R, G603R, G625R, G613R | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839564
- GRCh38:
- Chr2:190974838
| STAT1 | D665N, D713N, D724N, D740N, D691N, D746N, D756N, D744N, D711N, D714N, D734N, D742N, D752N | Inborn genetic diseases, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,
Immunodeficiency 31B | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:191859776
- GRCh38:
- Chr2:190995050
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191862926
- GRCh38:
- Chr2:190998200
| STAT1 | | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839592
- GRCh38:
- Chr2:190974866
| STAT1 | | Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191849063
- GRCh38:
- Chr2:190984337
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843668
- GRCh38:
- Chr2:190978942
| STAT1 | P563L, P565L, P596L, P598L, P586L, P594L, P543L, P566L, P576L, P608L | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839628
- GRCh38:
- Chr2:190974902
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859894
- GRCh38:
- Chr2:190995168
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859939
- GRCh38:
- Chr2:190995213
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
| Likely benign
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191873848
- GRCh38:
- Chr2:191009122
| STAT1 | | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely benign
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191856017
- GRCh38:
- Chr2:190991291
| STAT1 | M292K, M272K, M295K, M325K, M327K, M337K | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Likely pathogenic
(Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851681
- GRCh38:
- Chr2:190986955
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191843733
- GRCh38:
- Chr2:190979007
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191865899
- GRCh38:
- Chr2:191001173
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Uncertain significance
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191839619
- GRCh38:
- Chr2:190974893
| STAT1 | | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191851591
- GRCh38:
- Chr2:190986865
| STAT1 | F351V, F371V, F373V, F374V, F384V, F394V, F402V, F404V, F406V, F416V | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | Likely pathogenic
(Dec 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:191859794
- GRCh38:
- Chr2:190995068
| STAT1 | I280V, I283V, I313V, I315V, I325V | Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |