Granulomatous disease, chronic, X-linked, variant: genes and variants
Granulomatous disease, chronic, X-linked, variant is linked to 1 analyzed protein (CYBB). 3 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Granulomatous disease, chronic, X-linked, variant
CYBB: NADPH oxidase 2
It generates the catalytic electron flow that allows phagocytes to produce microbicidal reactive oxygen species during the respiratory burst. Loss-of-function variants cause X-linked chronic granulomatous disease with severe susceptibility to bacterial and fungal infection.
3 disease-causing and 0 uncertain variants in CYBB are linked to Granulomatous disease, chronic, X-linked, variant.
Known disease-causing variants in Granulomatous disease, chronic, X-linked, variant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYBB C244S | 244 | Ferric oxidoreductase | Disease-causing |
| CYBB H303N | 303 | FAD-binding FR-type | Disease-causing |
| CYBB G389A | 389 | FAD-binding FR-type | Disease-causing |
Same protein, different disease
- Granulomatous disease, chronic, X-linked is also caused by CYBB variants; they fall mostly in different places as the Granulomatous disease, chronic, X-linked, variant variants (36 disease-causing).
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency is also caused by CYBB variants; they fall mostly in different places as the Granulomatous disease, chronic, X-linked, variant variants (3 disease-causing).
Diseases related to Granulomatous disease, chronic, X-linked, variant
- Granulomatous disease, chronic, X-linked, also linked to CYBB
- Chronic granulomatous disease, also linked to CYBB
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, also linked to CYBB
Frequently asked questions
Which genes are linked to Granulomatous disease, chronic, X-linked, variant?
In CATVariant, Granulomatous disease, chronic, X-linked, variant is linked to 1 analyzed protein: CYBB (NADPH oxidase 2).
How many genetic variants are linked to Granulomatous disease, chronic, X-linked, variant?
3 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Granulomatous disease, chronic, X-linked, variant look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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