Total 6 pathogenic variants reported for Common variable immune deficiency

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 Common Variable Immune Deficiency, Dominant Condition: not provided not specified 16 conditions Common variable immunodeficiency Immunodeficiency, common variable, 2 Immunodeficiency, common variable, 1 Immunodeficiency, common variable, 1 Immunodeficiency, common variable, 2 Immunoglobulin A deficiency 2 Severe SARS-CoV-2 infection, susceptibility to TNFRSF13B-related disorder Immune deficiency, familial variable	Criteria Provided Conflicting Classifications	CA117387	rs_34557412	41 SubmittersRCV000005624 RCV000005623 RCV000302082 RCV000403933 RCV000507544 RCV000735370 RCV001526850 RCV001535526 RCV002283439 RCV002054418 RCV001374734 RCV003398448 RCV003448244
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)	SNV Germline	Chr17:16940352	Conflicting classifications of pathogenicity	Immunodeficiency, common variable, 2 Common Variable Immune Deficiency, Dominant Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA117392	rs_104894649	9 SubmittersRCV000005627 RCV000397011 RCV000730698 RCV001532954
NM_052945.4(TNFRSF13C):c.252G>A (p.Leu84=)	SNV Germline	Chr22:41926216	Conflicting classifications of pathogenicity	Common Variable Immune Deficiency, Recessive Immunodeficiency, common variable, 4	Criteria Provided Conflicting Classifications	CA10645635	rs_886057589	2 SubmittersRCV000281136 RCV002057810
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=)	SNV Germline	Chr17:16952519	Conflicting classifications of pathogenicity	Common Variable Immune Deficiency, Dominant Immunodeficiency, common variable, 2 TNFRSF13B-related disorder	Criteria Provided Conflicting Classifications	CA8414104	rs_377551435	3 SubmittersRCV000269924 RCV000929772 RCV003940267