NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)Pathogenic
Immunodeficiency 27A|Mycobacterium tuberculosis, susceptibility to|not provided|Disseminated atypical mycobacterial infection
β
β
ββ2025β Residue 87
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)Pathogenic
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency|not provided|IFN-gamma receptor 1 deficiency|Disseminated atypical mycobacterial infection|Helicobacter pylori infection, susceptibility to;Immunodeficiency 27A;Mycobacterium tuberculosis, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Hepatitis B virus, susceptibility to
β
β
ββ2025β Residue 274
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)Pathogenic
Immunodeficiency 27A|Inherited Immunodeficiency Diseases|not provided|Disseminated atypical mycobacterial infection
β
β
ββ2024β Residue 175
NM_000416.3(IFNGR1):c.201-1G>TLikely pathogenic
Interferon gamma receptor deficiency|Disseminated atypical mycobacterial infection
β
β
ββ2021
NM_000416.3(IFNGR1):c.373+2T>CPathogenic
Disseminated atypical mycobacterial infection
β
βββ2025
NM_000416.3(IFNGR1):c.811A>T (p.Lys271Ter)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2025β Residue 271
NM_000416.3(IFNGR1):c.588_592del (p.Glu197fs)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2025β Residue 197
NM_000416.3(IFNGR1):c.55dup (p.Met19fs)Likely pathogenic
Immunodeficiency 27A
β
βββ2025β Residue 19
NM_000416.3(IFNGR1):c.573_574dup (p.Glu192fs)Pathogenic
Immunodeficiency 27A
β
βββ2025β Residue 192
NM_000416.3(IFNGR1):c.781del (p.Ser262fs)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2024β Residue 262
NM_000416.3(IFNGR1):c.733+2T>CLikely pathogenic
Disseminated atypical mycobacterial infection
β
βββ2024
NM_000416.3(IFNGR1):c.218G>A (p.Trp73Ter)Pathogenic
not provided
β
βββ2024β Residue 73
NM_000416.3(IFNGR1):c.816_817dup (p.Ile273fs)Likely pathogenic
Disseminated atypical mycobacterial infection
β
βββ2023β Residue 273
NM_000416.3(IFNGR1):c.672G>A (p.Trp224Ter)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2023β Residue 224
NM_000416.3(IFNGR1):c.201-1G>CLikely pathogenic
Disseminated atypical mycobacterial infection
β
βββ2023
NM_000416.3(IFNGR1):c.373+1G>TPathogenic
not provided|Disseminated atypical mycobacterial infection
β
βββ2022
NM_000416.3(IFNGR1):c.805del (p.Tyr269fs)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2022β Residue 269
NM_000416.3(IFNGR1):c.643_644del (p.Val215fs)Pathogenic
Disseminated atypical mycobacterial infection
β
βββ2022β Residue 215
NM_000416.3(IFNGR1):c.585T>A (p.Cys195Ter)Likely pathogenic
not provided
β
βββ2022β Residue 195
NM_000416.3(IFNGR1):c.547-42A>TLikely pathogenic
Immunodeficiency 27A
β
βββ2019