Total 18 pathogenic variants reported for Common variable immunodeficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV
Germline		 Chr17:16948873 Conflicting classifications of pathogenicity; risk factor Immunoglobulin A deficiency 2
Immunodeficiency, common variable, 2
Condition: not provided
not specified
16 conditions
Severe SARS-CoV-2 infection, susceptibility to
Immunodeficiency, common variable, 1
Immunodeficiency, common variable, 2
Common variable immunodeficiency
Immunoglobulin A deficiency 2
Immunodeficiency, common variable, 2
Immunodeficiency, common variable, 1
TNFRSF13B-related disorder
Immune deficiency, familial variable		 Criteria Provided
Conflicting Classifications
 CA117387 rs_34557412

43 SubmittersRCV000005624RCV000005623RCV000403933RCV000507544RCV000735370RCV001374734RCV001535526RCV001526850RCV002054418RCV002283439RCV003398448RCV003448244
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) SNV
Germline		 Chr17:16940415 Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
Immunoglobulin A deficiency 2
Condition: not provided
not specified
Common variable immunodeficiency
Immunoglobulin A deficiency 2
Immunodeficiency, common variable, 2
See cases		 Criteria Provided
Conflicting Classifications
 CA117389 rs_72553883

27 SubmittersRCV000005625RCV000005626RCV000255118RCV000999848RCV001199863RCV002054419RCV002251881
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV
Germline		 Chr11:36592817 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Common variable immunodeficiency
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA122872 rs_121918575

10 SubmittersRCV000014020RCV000521152RCV000681597RCV001027616RCV001731284RCV000821298RCV003398501
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) SNV
Germline		 Chr17:16948923 Conflicting classifications of pathogenicity Common variable immunodeficiency
IgAD1
Immunodeficiency, common variable, 2
Condition: not provided
Immunodeficiency, common variable, 2		 Criteria Provided
Conflicting Classifications
 rs_72553877

11 SubmittersRCV001844233RCV002508946RCV000756794RCV000800201
NM_003809.3(TNFSF12):c.674G>A (p.Arg225Gln) SNV
Germline		 Chr17:7557274 Conflicting classifications of pathogenicity Condition: not provided
Common variable immunodeficiency
TNFSF12-related disorder		 Criteria Provided
Conflicting Classifications
 rs_576689580

3 SubmittersRCV000762199RCV001855950RCV003413552
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_020458.4(TTC7A):c.793C>T (p.Arg265Trp) SNV
Germline		 Chr2:46993478 Conflicting classifications of pathogenicity Common variable immunodeficiency
Multiple gastrointestinal atresias
not specified		 Criteria Provided
Conflicting Classifications
 rs_150269540

3 SubmittersRCV001027641RCV001367045RCV004526797
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) SNV
Germline		 Chr4:102566988 Pathogenic Common variable immunodeficiency
Immunodeficiency, common variable, 12		 Criteria Provided
Single Submitter
 rs_1578771120

2 SubmittersRCV001027589RCV001374707
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) SNV
Germline		 Chr4:102567021 Pathogenic Common variable immunodeficiency Criteria Provided
Single Submitter
 rs_1578771197

1 SubmittersRCV001027591
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) SNV
Germline		 Chr4:102582873 Pathogenic Common variable immunodeficiency Criteria Provided
Single Submitter
 rs_1578793298

1 SubmittersRCV001027592
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) SNV
Germline		 Chr4:102582880 Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases
Common variable immunodeficiency
Immunodeficiency, common variable, 12
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1578793312

4 SubmittersRCV001027604RCV001027598RCV001262753RCV002552007
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) SNV
Germline		 Chr11:36593540 Pathogenic Common variable immunodeficiency Criteria Provided
Single Submitter
 rs_1590715754

1 SubmittersRCV001027617
NM_020458.4(TTC7A):c.1802+3G>C SNV
Germline		 Chr2:47029387 Conflicting classifications of pathogenicity Common variable immunodeficiency
Multiple gastrointestinal atresias
not specified		 Criteria Provided
Conflicting Classifications
 rs_1572961263

3 SubmittersRCV001027636RCV001862411RCV003230621
NM_012452.3(TNFRSF13B):c.61+2T>A SNV
Germline		 Chr17:16972013 Pathogenic Immunodeficiency, common variable, 2
Common variable immunodeficiency		 Criteria Provided
Single Submitter
 rs_760885614

2 SubmittersRCV001212531RCV003493823
NM_000061.3(BTK):c.1787T>C (p.Met596Thr) SNV
Germline		 ChrX:101353315 Likely pathogenic Common variable immunodeficiency
Condition: not provided		 Criteria Provided
Single Submitter

2 SubmittersRCV003493994RCV004723263
NM_003998.4(NFKB1):c.1753-1G>C SNV
Germline		 Chr4:102606495 Likely pathogenic Condition: not provided
Common variable immunodeficiency		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003683733RCV004018000