NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2026β Residue 102
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β
β
ββ2026β Residue 100
NM_000433.4(NCF2):c.366+1G>APathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β
β
ββ2025
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease
β
β
ββ2025β Residue 394
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2025β Residue 388
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease
β
β
ββ2025β Residue 77
NM_000433.4(NCF2):c.835_836del (p.Thr279fs)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2025β Residue 279
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease|Colorectal cancer
β
β
ββ2025β Residue 202
NM_000433.4(NCF2):c.855G>C (p.Gln285His)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2025β Residue 285
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2025β Residue 184
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2024β Residue 66
NM_000433.4(NCF2):c.714-2A>GLikely pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2024
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2024β Residue 192
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β
β
ββ2024β Residue 374
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β
β
ββ2024β Residue 19
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β
β
ββ2023β Residue 391
NM_000433.4(NCF2):c.417del (p.Ala140fs)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2023β Residue 140
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2023β Residue 167
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2023β Residue 367
NM_000433.4(NCF2):c.257+1G>APathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β
β
ββ2023