Total 240 pathogenic variants reported for Polyglandular autoimmune syndrome, type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) SNV
Germline		 Chr21:44289773 Pathogenic Polyglandular autoimmune syndrome, type 1
Condition: not provided
AIRE-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116134 rs_121434254

28 SubmittersRCV000179294RCV000378770RCV003421900RCV004975258
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) SNV
Germline		 Chr21:44286671 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA116137 rs_121434255

3 SubmittersRCV000003471
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) SNV
Germline		 Chr21:44287085 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116140 rs_121434256

9 SubmittersRCV000412909RCV000169129
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) SNV
Germline		 Chr21:44286007 Pathogenic Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116147 rs_121434258

5 SubmittersRCV000003478RCV001091469
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) SNV
Germline		 Chr21:44286663 Pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA116151 rs_267606642

1 SubmittersRCV000003481
NM_000383.4(AIRE):c.1279-18C>T SNV
Germline		 Chr21:44293771 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1 Criteria Provided
Conflicting Classifications
 CA213490 rs_72650678

2 SubmittersRCV000029306
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) SNV
Germline		 Chr21:44293832 Conflicting classifications of pathogenicity not specified
Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA213495 rs_72650677

10 SubmittersRCV000503763RCV000957765RCV001574716
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) SNV
Germline		 Chr21:44287041 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA213506 rs_193922417

4 SubmittersRCV000029312RCV000788159RCV002509170
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) SNV
Germline		 Chr21:44287133 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA213509 rs_193922418

4 SubmittersRCV000029313
NM_000383.4(AIRE):c.652+14C>T SNV
Germline		 Chr21:44288472 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA213513 rs_41277546

6 SubmittersRCV000029315RCV000595668RCV000710496
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) SNV
Germline		 Chr21:44297727 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA144206 rs_386833673

3 SubmittersRCV000049633
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) SNV
Unknown		 Chr21:44291147 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA144209 rs_386833674

1 SubmittersRCV000049634
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) SNV
Germline		 Chr16:88643570 Pathogenic/Likely pathogenic Condition: not provided
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Polyglandular autoimmune syndrome, type 1
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219178 rs_179363894

4 SubmittersRCV000059046RCV003497833RCV004542731RCV004526610
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) SNV
Germline		 Chr21:44297705 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219194 rs_179363889

11 SubmittersRCV000059052RCV000409203RCV004754292
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) SNV
Germline		 Chr21:44286678 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA201537 rs_179363882

7 SubmittersRCV000059056RCV000175592
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) SNV
Germline		 Chr21:44286693 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Single Submitter
 CA219201 rs_179363883

2 SubmittersRCV000059057RCV003522923
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) SNV
Germline		 Chr21:44286702 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219203 rs_179363884

3 SubmittersRCV000059058RCV002514297
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) SNV
Germline		 Chr21:44286049 Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Single Submitter
 CA219205 rs_179363875

3 SubmittersRCV000059059RCV000666777
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) SNV
Germline		 Chr21:44286050 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Single Submitter
 CA219207 rs_179363876

3 SubmittersRCV000059060RCV001378939
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) SNV
Germline		 Chr21:44286053 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219209 rs_179363877

7 SubmittersRCV000059061RCV001037856RCV004754293
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) SNV
Germline		 Chr21:44286068 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199074 rs_179363886

7 SubmittersRCV000059062RCV000169178
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) SNV
Germline		 Chr21:44286089 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219211 rs_179363878

6 SubmittersRCV000059063RCV000810303
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) SNV
Germline		 Chr21:44286092 Pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Single Submitter
 CA219213 rs_179363879

2 SubmittersRCV000059064RCV003329239
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) SNV
Germline		 Chr21:44291192 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219217 rs_179363885

3 SubmittersRCV000059066RCV001061201
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) SNV
Germline		 Chr21:44288401 Conflicting classifications of pathogenicity not specified
Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA230862 rs_74162061

6 SubmittersRCV000238916RCV001081188RCV003430667
NM_000383.4(AIRE):c.789C>T (p.Gly263=) SNV
Germline		 Chr21:44289793 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1
not specified		 Criteria Provided
Conflicting Classifications
 CA230865 rs_138066507

6 SubmittersRCV000116298RCV001082299RCV005237556
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) SNV
Germline		 Chr21:44286656 Pathogenic Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199112 rs_179363880

6 SubmittersRCV000169457RCV001575328
NM_000383.4(AIRE):c.463+2T>C SNV
Germline		 Chr21:44287135 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199063 rs_786204478

7 SubmittersRCV000169131RCV000413548
NM_000383.4(AIRE):c.901G>A (p.Val301Met) SNV
Germline		 Chr21:44291116 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Conflicting Classifications
 CA10051853 rs_150634562

6 SubmittersRCV000254752RCV000990355RCV003409384
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) SNV
Germline		 Chr21:44289659 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA10051674 rs_139620961

2 SubmittersRCV000291566RCV000801112
NM_000383.4(AIRE):c.564C>G (p.Val188=) SNV
Germline		 Chr21:44288370 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Conflicting Classifications
 CA10051628 rs_201650973

3 SubmittersRCV000328009RCV001084386RCV003949904
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) SNV
Germline		 Chr21:44286581 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA16042011 rs_1057516272

2 SubmittersRCV000411673
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) SNV
Unknown		 Chr21:44286657 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA16042012 rs_1057516499

1 SubmittersRCV000409857
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) SNV
Unknown		 Chr21:44286679 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA16042013 rs_1057516225

1 SubmittersRCV000410887
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) SNV
Germline		 Chr21:44287570 Pathogenic Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042016 rs_1057517241

5 SubmittersRCV000411349RCV000518804
NM_000383.4(AIRE):c.652+1G>T SNV
Germline		 Chr21:44288459 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
AIRE-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10051650 rs_199612115

7 SubmittersRCV000409920RCV004754417RCV004721348
NM_000383.4(AIRE):c.1566+2T>A SNV
Germline		 Chr21:44296447 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA16042023 rs_1057516985

2 SubmittersRCV000410277
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) SNV
Germline		 Chr21:44286698 Pathogenic/Likely pathogenic Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608527 rs_140630532

8 SubmittersRCV000425106RCV000666247
NM_000383.4(AIRE):c.538+6C>T SNV
Germline		 Chr21:44287597 Conflicting classifications of pathogenicity not specified
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA10051599 rs_371847563

2 SubmittersRCV000436662RCV001359598
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) SNV
Germline		 Chr21:44286692 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423480 rs_1555871902

1 SubmittersRCV000515130
NM_000383.4(AIRE):c.1566+8C>T SNV
Germline		 Chr21:44296453 Conflicting classifications of pathogenicity not specified
Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10052184 rs_72650680

7 SubmittersRCV000516652RCV000633447RCV001702498
NM_000383.4(AIRE):c.798+1G>A SNV
Germline		 Chr21:44289803 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10051714 rs_138489664

6 SubmittersRCV000576629RCV003905497
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) SNV
Germline		 Chr21:44288395 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA10051634 rs_148012328

3 SubmittersRCV000586806RCV001834836
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) SNV
Germline		 Chr21:44293104 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10051990 rs_543891914

2 SubmittersRCV000633452RCV005328337
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) SNV
Germline		 Chr21:44293813 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10052051 rs_373993732

4 SubmittersRCV000633442RCV004691968
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) SNV
Germline		 Chr21:44286597 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423286 rs_747941115

2 SubmittersRCV000672123
NM_000383.4(AIRE):c.1096-1G>A SNV
Germline		 Chr21:44292992 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA10051943 rs_780906602

3 SubmittersRCV000666740
NM_000383.4(AIRE):c.1A>G (p.Met1Val) SNV
Germline		 Chr21:44286007 Pathogenic Polyglandular autoimmune syndrome, type 1
Inherited Immunodeficiency Diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10051456 rs_121434258

3 SubmittersRCV000666118RCV001027543
NM_000383.4(AIRE):c.1095+1G>A SNV
Unknown		 Chr21:44292402 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA321794673 rs_1022025101

1 SubmittersRCV000673367
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) SNV
Germline		 Chr21:44286028 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Condition: not provided
AIRE-related disorder		 Criteria Provided
Conflicting Classifications
 CA410422952 rs_1231469574

5 SubmittersRCV000668219RCV000710495RCV004754524
NM_000383.4(AIRE):c.464-2A>T SNV
Unknown		 Chr21:44287515 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA410423886 rs_1032171597

1 SubmittersRCV000674283
NM_000383.4(AIRE):c.652+2T>C SNV
Germline		 Chr21:44288460 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410424291 rs_1555872272

3 SubmittersRCV000672259
NM_000383.4(AIRE):c.798+1G>C SNV
Germline		 Chr21:44289803 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051715 rs_138489664

2 SubmittersRCV000665889
NM_000383.4(AIRE):c.798+1G>T SNV
Germline		 Chr21:44289803 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051713 rs_138489664

3 SubmittersRCV000665514
NM_000383.4(AIRE):c.1279-2A>G SNV
Germline		 Chr21:44293787 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425602 rs_1555873087

3 SubmittersRCV000673170
NM_000383.4(AIRE):c.1567-2A>G SNV
Germline		 Chr21:44297654 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410426194 rs_1555873650

2 SubmittersRCV000666886
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) SNV
Germline		 Chr21:44287522 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423901 rs_1488613451

1 SubmittersRCV000687271
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) SNV
Germline		 Chr21:44293065 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10051970 rs_771790456

3 SubmittersRCV000686368RCV003278987
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) SNV
Germline		 Chr21:44297726 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410426349 rs_1568932096

3 SubmittersRCV000761489
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) SNV
Germline		 Chr21:44292373 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10051912 rs_752432041

3 SubmittersRCV000804996RCV002534801
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) SNV
Germline		 Chr21:44293066 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Conflicting Classifications
 CA10051971 rs_201491251

4 SubmittersRCV000802811RCV003411766
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) SNV
Germline		 Chr21:44293170 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410425580 rs_1601969308

2 SubmittersRCV000803575
NM_000383.4(AIRE):c.1095+2T>C SNV
Germline		 Chr21:44292403 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA10051919 rs_760280615

3 SubmittersRCV000800815
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) SNV
Germline		 Chr21:44293015 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10051955 rs_79212994

4 SubmittersRCV000970746RCV001420757RCV004792590
NM_000383.4(AIRE):c.156G>A (p.Lys52=) SNV
Germline		 Chr21:44286580 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1 Criteria Provided
Conflicting Classifications
 CA10051489 rs_144396624

3 SubmittersRCV000912872
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) SNV
Germline		 Chr21:44286684 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410423465 rs_2040485564

2 SubmittersRCV001248832
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) SNV
Germline		 Chr21:44288413 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051639 rs_755490967

2 SubmittersRCV001051848
NM_000383.4(AIRE):c.1503+1G>T SNV
Germline		 Chr21:44294504 Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410426045 rs_1156582406

2 SubmittersRCV001067755
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) SNV
Germline		 Chr21:44286992 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423607 rs_1472808103

1 SubmittersRCV001222494
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) SNV
Germline		 Chr21:44293090 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10051984 rs_754391375

3 SubmittersRCV001223455RCV004978143
NM_000383.4(AIRE):c.825G>C (p.Gln275His) SNV
Germline		 Chr21:44290014 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA321793296 rs_1027582142

3 SubmittersRCV001247413RCV004034893
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp) SNV
Germline		 Chr21:44286031 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA410422957 rs_1942959342

1 SubmittersRCV001267736
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) SNV
Germline		 Chr21:44296428 Pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided
 CA410426152 rs_2040608439

1 SubmittersRCV001267740
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) SNV
Unknown		 Chr21:44287534 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423928 rs_2040495130

1 SubmittersRCV001263807
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) SNV
Unknown		 Chr21:44288443 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA321788311 rs_1029475010

1 SubmittersRCV001263808
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) SNV
Unknown		 Chr21:44291095 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424787 rs_2040534254

1 SubmittersRCV001263809
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) SNV
Unknown		 Chr21:44293154 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425547 rs_2040561421

1 SubmittersRCV001263810
NM_000383.4(AIRE):c.44G>A (p.Arg15His) SNV
Germline		 Chr21:44286050 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422994 rs_179363876

2 SubmittersRCV001283785
NM_000383.4(AIRE):c.1504-818G>A SNV
Germline		 Chr21:44295565 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1 Criteria Provided
Conflicting Classifications
 CA321797140 rs_181779633

3 SubmittersRCV001291832
NM_000383.4(AIRE):c.652+15G>A SNV
Germline		 Chr21:44288473 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1 Criteria Provided
Conflicting Classifications
 CA10051655 rs_760027964

2 SubmittersRCV001334408
NM_000383.4(AIRE):c.307+2T>G SNV
Germline		 Chr21:44286733 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423567 rs_2146375964

2 SubmittersRCV001377282
NM_000383.4(AIRE):c.1278+1G>A SNV
Germline		 Chr21:44293176 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410425596 rs_1184559866

3 SubmittersRCV001379865
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) SNV
Germline		 Chr21:44288366 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424104 rs_143952576

1 SubmittersRCV001388127
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) SNV
Germline		 Chr21:44289788 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424574 rs_2146379356

1 SubmittersRCV001389532
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) SNV
Germline		 Chr21:44293079 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425415 rs_1482020075

1 SubmittersRCV001383460
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) SNV
Germline		 Chr21:44291131 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA10051858 rs_754932526

3 SubmittersRCV001589902RCV001729959
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) SNV
Germline		 Chr21:44286008 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422910 rs_2146374989

1 SubmittersRCV001783349
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) SNV
Germline		 Chr21:44294429 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425902 rs_866898746

1 SubmittersRCV001939218
NM_000383.4(AIRE):c.539-2A>G SNV
Germline		 Chr21:44288343 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424053 rs_2146377702

1 SubmittersRCV002046565
NM_000383.4(AIRE):c.1400+1G>A SNV
Germline		 Chr21:44293911 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425841 rs_1469386000

1 SubmittersRCV002017463
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) SNV
Germline		 Chr21:44286714 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423523 rs_2146375951

1 SubmittersRCV002017393
NM_000383.4(AIRE):c.308-1G>C SNV
Germline		 Chr21:44286977 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051528 rs_764588340

1 SubmittersRCV001976596
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) SNV
Germline		 Chr21:44286597 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA10051495 rs_747941115

2 SubmittersRCV002022142
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) SNV
Germline		 Chr21:44286008 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422912 rs_2146374989

1 SubmittersRCV002007164
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) SNV
Germline		 Chr21:44286699 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423495 rs_1288735234

1 SubmittersRCV002037238
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) SNV
Germline		 Chr21:44286629 Pathogenic Polyglandular autoimmune syndrome, type 1
AIRE-related disorder		 Criteria Provided
Single Submitter
 CA410423348 rs_2146375836

2 SubmittersRCV001960703RCV004754818
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) SNV
Germline		 Chr21:44286049 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422992 rs_179363875

1 SubmittersRCV001988247
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) SNV
Germline		 Chr21:44287010 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423642 rs_2146376221

1 SubmittersRCV001972863
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter) SNV
Unknown		 Chr21:44288425 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424213 rs_745459635

1 SubmittersRCV002308266
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter) SNV
Unknown		 Chr21:44289779 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424555 rs_2517880519

1 SubmittersRCV002310446
NM_000383.4(AIRE):c.2T>C (p.Met1Thr) SNV
Germline		 Chr21:44286008 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422911 rs_2146374989

1 SubmittersRCV003064634
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter) SNV
Germline		 Chr21:44286704 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051509 rs_754624261

1 SubmittersRCV003050568
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter) SNV
Germline		 Chr21:44292378 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425195 rs_2517883537

1 SubmittersRCV003050569
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp) SNV
Germline		 Chr21:44293093 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10051986 rs_747761045

2 SubmittersRCV002637399RCV003162025
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter) SNV
Germline		 Chr21:44293164 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425566 rs_2517884896

2 SubmittersRCV002510430
NM_000383.4(AIRE):c.1566+1G>C SNV
Germline		 Chr21:44296446 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410426189 rs_2040608924

1 SubmittersRCV003116060
NM_000383.4(AIRE):c.132+2T>C SNV
Germline		 Chr21:44286140 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423186 rs_2517875737

1 SubmittersRCV002815818
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter) SNV
Germline		 Chr21:44296401 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410426096 rs_966636123

1 SubmittersRCV002856480
NM_000383.4(AIRE):c.54C>G (p.Ile18Met) SNV
Germline		 Chr21:44286060 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423013 rs_2517875605

1 SubmittersRCV002894335
NM_000383.4(AIRE):c.995+1G>C SNV
Germline		 Chr21:44291211 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425028 rs_2517882229

1 SubmittersRCV002876730
NM_000383.4(AIRE):c.1400+2T>C SNV
Germline		 Chr21:44293912 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425844 rs_2517885999

1 SubmittersRCV002852027
NM_000383.4(AIRE):c.1435G>A (p.Val479Met) SNV
Germline		 Chr21:44294435 Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10052130 rs_371876095

2 SubmittersRCV002932594RCV004973718
NM_000383.4(AIRE):c.537C>T (p.Asn179=) SNV
Germline		 Chr21:44287590 Conflicting classifications of pathogenicity not specified
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA10051596 rs_72650674

2 SubmittersRCV005433916RCV002922879
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter) SNV
Germline		 Chr21:44294427 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425899 rs_754217318

1 SubmittersRCV002941973
NM_000383.4(AIRE):c.1503+1G>A SNV
Germline		 Chr21:44294504 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410426043 rs_1156582406

1 SubmittersRCV003015578
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala) SNV
Germline		 Chr21:44286052 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422996 rs_1340739925

1 SubmittersRCV003045755
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln) SNV
Germline		 Chr21:44286702 Conflicting classifications of pathogenicity Condition: not provided
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA410423498 rs_179363884

2 SubmittersRCV003228342RCV003779824
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter) SNV
Germline		 Chr21:44293821 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425666 rs_771244760

2 SubmittersRCV003326723
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro) SNV
Germline		 Chr21:44286137 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423177 rs_2040479235

1 SubmittersRCV003329567
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro) SNV
Germline		 Chr21:44286666 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA10051501 rs_770027594

1 SubmittersRCV003329568
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter) SNV
Germline		 Chr21:44293874 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425770 rs_1427144374

1 SubmittersRCV003329569
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter) SNV
Germline		 Chr21:44292366 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425177 rs_2040550139

1 SubmittersRCV003524214
NM_000383.4(AIRE):c.1095+1G>C SNV
Germline		 Chr21:44292402 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425243 rs_1022025101

1 SubmittersRCV003523638
NM_000383.4(AIRE):c.1401-1G>A SNV
Germline		 Chr21:44294400 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425850 rs_1471741201

1 SubmittersRCV003523693
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter) SNV
Germline		 Chr21:44293812 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425650 rs_370969296

1 SubmittersRCV003523376
NM_000383.4(AIRE):c.23G>A (p.Arg8His) SNV
Germline		 Chr21:44286029 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410422953 rs_1206933109

1 SubmittersRCV003636331
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter) SNV
Germline		 Chr21:44290057 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424745 rs_2517880872

1 SubmittersRCV003637133
NM_000383.4(AIRE):c.995+1G>A SNV
Germline		 Chr21:44291211 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425027 rs_2517882229

1 SubmittersRCV003635468
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter) SNV
Germline		 Chr21:44286686 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410423467 rs_2040485608

1 SubmittersRCV003635499
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter) SNV
Germline		 Chr21:44291148 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424902 rs_2517882117

1 SubmittersRCV003635494
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter) SNV
Germline		 Chr21:44292351 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA410425149 rs_2040549725

3 SubmittersRCV003827782
NM_000383.4(AIRE):c.996-1G>A SNV
Germline		 Chr21:44292301 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410425037 rs_1405105860

1 SubmittersRCV003836388
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter) SNV
Germline		 Chr21:44289713 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter
 CA410424418 rs_778067704

1 SubmittersRCV003849623
NM_000383.4(AIRE):c.748A>G (p.Ser250Gly) SNV
Germline		 Chr21:44289752 Conflicting classifications of pathogenicity Inborn genetic diseases
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Conflicting Classifications
 CA410424504 rs_141480813

2 SubmittersRCV004388531RCV005104459
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg) SNV
Germline		 Chr21:44286053 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Multiple Submitters
No Conflicts
 rs_179363877

2 SubmittersRCV004587984
NM_000383.4(AIRE):c.195G>A (p.Trp65Ter) SNV
Germline		 Chr21:44286619 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005029172
NM_000383.4(AIRE):c.511G>T (p.Glu171Ter) SNV
Germline		 Chr21:44287564 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032717
NM_000383.4(AIRE):c.906T>A (p.Cys302Ter) SNV
Germline		 Chr21:44291121 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032718
NM_000383.4(AIRE):c.1004G>A (p.Trp335Ter) SNV
Germline		 Chr21:44292310 Likely pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032719
NM_000383.4(AIRE):c.1347C>A (p.Cys449Ter) SNV
Germline		 Chr21:44293857 Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005415959
NM_000383.4(AIRE):c.1503+2T>G SNV
Germline		 Chr21:44294505 Likely pathogenic Polyglandular autoimmune syndrome, type 1 No Assertion Criteria Provided

1 SubmittersRCV005618307