NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)Pathogenic
Immunodeficiency, common variable, 2|not provided|Immunodeficiency, common variable, 1|Immunoglobulin A deficiency 2|Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2|TNFRSF13B-related disorder|Hyper-IgM syndrome type 2
β
β
ββ2026β Residue 69
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)Pathogenic
Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2|not provided|Common variable immunodeficiency
β
β
ββ2026β Residue 164
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β
β
ββ2026β Residue 193
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)Pathogenic
not provided|Immunodeficiency, common variable, 2|not specified|Immunodeficiency, common variable, 1
β
β
ββ2026β Residue 144
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)Pathogenic
Immunodeficiency, common variable, 2|not provided
β
β
ββ2025β Residue 17
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)Pathogenic
Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2
β
β
ββ2025β Residue 66
NM_012452.3(TNFRSF13B):c.61+1G>APathogenic
Immunodeficiency, common variable, 2|Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2
β
β
ββ2025
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β
β
ββ2025β Residue 194
NM_012452.3(TNFRSF13B):c.61+1G>TPathogenic
Immunodeficiency, common variable, 2
β
β
ββ2024
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β
β
ββ2023β Residue 184
NM_012452.3(TNFRSF13B):c.61+2T>APathogenic
Immunodeficiency, common variable, 2|Common variable immunodeficiency
β
βββ2026
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs)Pathogenic
Immunodeficiency, common variable, 2|TNFRSF13B-related disorder
β
βββ2025β Residue 100
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs)Pathogenic
Immunodeficiency, common variable, 2|TNFRSF13B-related disorder
β
βββ2025β Residue 76
NM_012452.3(TNFRSF13B):c.452dup (p.Leu153fs)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2025β Residue 153
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2025β Residue 144
NM_012452.3(TNFRSF13B):c.141C>A (p.Cys47Ter)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2025β Residue 47
NM_012452.3(TNFRSF13B):c.62-1G>APathogenic
Immunodeficiency, common variable, 2
β
βββ2025
NM_012452.3(TNFRSF13B):c.493_497dup (p.Leu167fs)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2025β Residue 167
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2024β Residue 119
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)Pathogenic
Immunodeficiency, common variable, 2
β
βββ2024β Residue 102