Total 91 pathogenic variants reported for Hyper-IgM syndrome type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) SNV
Germline		 ChrX:136659332 Pathogenic Hyper-IgM syndrome type 1 No Assertion Criteria Provided
 CA255743 rs_104894771

1 SubmittersRCV000011907
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) SNV
Germline		 ChrX:136659309 Pathogenic Hyper-IgM syndrome type 1 No Assertion Criteria Provided
 CA255745 rs_104894768

1 SubmittersRCV000011909
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) SNV
Germline		 ChrX:136659093 Pathogenic Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA255747 rs_104894769

2 SubmittersRCV000011910RCV001507548
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) SNV
Germline		 ChrX:136648355 Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA255749 rs_104894774

3 SubmittersRCV000011912
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) SNV
Germline		 ChrX:136659048 Pathogenic Hyper-IgM syndrome type 1 No Assertion Criteria Provided
 CA255751 rs_104894775

1 SubmittersRCV000011913
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) SNV
Germline		 ChrX:136659047 Likely pathogenic Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA255754 rs_104894777

2 SubmittersRCV000011914RCV000256172
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) SNV
Germline		 ChrX:136656377 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 CA255756 rs_104894778

2 SubmittersRCV000011918
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) SNV
Germline		 ChrX:136648279 Pathogenic Hyper-IgM syndrome type 1
not specified
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260203 rs_193922135

7 SubmittersRCV000029464RCV000507366RCV001092164
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) SNV
Germline		 ChrX:136659390 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA260209 rs_193922136

4 SubmittersRCV000029466
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) SNV
Germline		 ChrX:136659060 Likely pathogenic Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588744 rs_886039326

2 SubmittersRCV000255078RCV002518747
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) SNV
Germline		 ChrX:136648286 Conflicting classifications of pathogenicity not specified
Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10528066 rs_368003929

3 SubmittersRCV000339805RCV001089061RCV000726000
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) SNV
Germline		 ChrX:136659223 Conflicting classifications of pathogenicity Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10528160 rs_370353192

2 SubmittersRCV000263063RCV001513122
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) SNV
Germline		 ChrX:136659396 Likely pathogenic Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608289 rs_1057521128

2 SubmittersRCV001378166RCV000423996
NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn) SNV
Germline		 ChrX:136659069 Conflicting classifications of pathogenicity Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA16608703 rs_1057521127

2 SubmittersRCV000441734RCV000823370
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) SNV
Germline		 ChrX:136648355 Conflicting classifications of pathogenicity Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA16621207 rs_104894774

3 SubmittersRCV000480912RCV001368065
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) SNV
Germline		 ChrX:136659287 Pathogenic Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414756355 rs_1085307733

2 SubmittersRCV000490123RCV001865515
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro) SNV
Germline		 ChrX:136659050 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 CA414755575 rs_1387503550

1 SubmittersRCV000606199
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) SNV
Germline		 ChrX:136659171 Conflicting classifications of pathogenicity not specified
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10528156 rs_11575982

2 SubmittersRCV000506850RCV000636651
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) SNV
Germline		 ChrX:136659390 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 CA414757091 rs_193922136

1 SubmittersRCV000636648
NM_000074.3(CD40LG):c.347-2A>G SNV
Germline		 ChrX:136656354 Pathogenic Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569377237

2 SubmittersRCV000730681RCV003987683
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser) SNV
Germline		 ChrX:136659315 Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1569377865

3 SubmittersRCV003512077RCV000762673
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) SNV
Germline		 ChrX:136659261 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_1569377829

1 SubmittersRCV000781200
NM_000074.3(CD40LG):c.288+1G>A SNV
Germline		 ChrX:136650398 Likely pathogenic Hyper-IgM syndrome type 1
Common variable immunodeficiency		 Criteria Provided
Single Submitter
 rs_1569376229

2 SubmittersRCV000781202RCV003493731
NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg) SNV
Germline		 ChrX:136659305 Conflicting classifications of pathogenicity Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 rs_1603321840

2 SubmittersRCV000788160RCV001869202
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) SNV
Germline		 ChrX:136656382 Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603321148

2 SubmittersRCV000803202
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) SNV
Germline		 ChrX:136659149 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_1603321772

1 SubmittersRCV000805406
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) SNV
Germline		 ChrX:136659290 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_1603321834

1 SubmittersRCV000818235
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) SNV
Germline		 ChrX:136659179 Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_147340102

2 SubmittersRCV000887806RCV004962910
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) SNV
Germline		 ChrX:136650341 Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_200672738

2 SubmittersRCV002068672RCV004962955
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) SNV
Germline		 ChrX:136659143 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2076127133

1 SubmittersRCV001060218
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) SNV
Germline		 ChrX:136659323 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2076127875

1 SubmittersRCV001203125
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) SNV
Germline		 ChrX:136659185 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2076127276

1 SubmittersRCV001226556
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) SNV
Germline		 ChrX:136659399 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_1477466218

1 SubmittersRCV001237589
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) SNV
Germline		 ChrX:136659047 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_104894777

1 SubmittersRCV001253461
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) SNV
Germline		 ChrX:136654424 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2076113325

1 SubmittersRCV001264504
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) SNV
Germline		 ChrX:136654430 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148552406

1 SubmittersRCV001379720
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) SNV
Germline		 ChrX:136648263 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148550523

1 SubmittersRCV001384131
NM_000074.3(CD40LG):c.346+1G>A SNV
Germline		 ChrX:136654431 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148552407

1 SubmittersRCV001387581
NM_000074.3(CD40LG):c.346+5G>A SNV
Germline		 ChrX:136654435 Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2148552412

2 SubmittersRCV001382556RCV002070254
NM_000074.3(CD40LG):c.166G>T (p.Glu56Ter) SNV
Germline		 ChrX:136650275 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148551084

1 SubmittersRCV004819198
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) SNV
Germline		 ChrX:136659107 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 rs_767889061

2 SubmittersRCV001955839
NM_000074.3(CD40LG):c.409+1G>C SNV
Germline		 ChrX:136656419 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148552941

1 SubmittersRCV001897038
NM_000074.3(CD40LG):c.289-1G>A SNV
Germline		 ChrX:136654372 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148552379

1 SubmittersRCV001954712
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) SNV
Germline		 ChrX:136659227 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148553738

1 SubmittersRCV001925891
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) SNV
Germline		 ChrX:136656394 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_1215852570

1 SubmittersRCV001935283
NM_000074.3(CD40LG):c.156+2T>C SNV
Germline		 ChrX:136648406 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter
 rs_2148550585

1 SubmittersRCV001895461
NM_000074.3(CD40LG):c.478C>G (p.Gln160Glu) SNV
Germline		 ChrX:136659107 Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_767889061

2 SubmittersRCV002112543RCV003025380
NM_000074.3(CD40LG):c.687T>G (p.Phe229Leu) SNV
Germline		 ChrX:136659316 Conflicting classifications of pathogenicity Condition: not provided
Hyper-IgM syndrome type 1		 Criteria Provided
Conflicting Classifications
 rs_2148553785

2 SubmittersRCV002276236RCV004796721
NM_000074.3(CD40LG):c.156+1G>A SNV
Germline		 ChrX:136648405 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003066380
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter) SNV
Germline		 ChrX:136650317 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003066381
NM_000074.3(CD40LG):c.346+1G>T SNV
Germline		 ChrX:136654431 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003066382
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys) SNV
Germline		 ChrX:136659049 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003066383
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg) SNV
Germline		 ChrX:136659128 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003066384
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys) SNV
Germline		 ChrX:136659144 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003041484
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp) SNV
Germline		 ChrX:136659384 Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041486
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter) SNV
Germline		 ChrX:136650377 Pathogenic Hyper-IgM syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002823885RCV003222445
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter) SNV
Germline		 ChrX:136654383 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002899648
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter) SNV
Germline		 ChrX:136659067 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003023907
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter) SNV
Germline		 ChrX:136659139 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003023948
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu) SNV
Germline		 ChrX:136659316 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003140603
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter) SNV
Germline		 ChrX:136659283 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003142255
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val) SNV
Germline		 ChrX:136659399 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003228759
NM_000074.3(CD40LG):c.409+2T>C SNV
Germline		 ChrX:136656420 Pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003513701
NM_000074.3(CD40LG):c.439A>C (p.Thr147Pro) SNV
Germline		 ChrX:136659068 Likely pathogenic Hyper-IgM syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720197