NM_000397.4(CYBB):c.141+1G>TPathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)Pathogenic
Granulomatous disease, chronic, X-linked|not provided|Chronic granulomatous disease
★★☆☆2025→ Residue 226
NM_000397.4(CYBB):c.1315-2A>GPathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro)Likely pathogenic
Granulomatous disease, chronic, X-linked|not provided
★★☆☆2025→ Residue 142
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter)Pathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 290
NM_000397.4(CYBB):c.1038del (p.Glu347fs)Pathogenic
Granulomatous disease, chronic, X-linked|not provided
★★☆☆2025→ Residue 347
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter)Pathogenic
Granulomatous disease, chronic, X-linked|not provided
★★☆☆2025→ Residue 130
NM_000397.4(CYBB):c.742dup (p.Ile248fs)Pathogenic
not provided|Granulomatous disease, chronic, X-linked|Chronic granulomatous disease
★★☆☆2025→ Residue 248
NM_000397.4(CYBB):c.1151+2T>CPathogenic
not provided|Chronic granulomatous disease
★★☆☆2025
NM_000397.4(CYBB):c.565_568del (p.Ile189fs)Pathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 189
NM_000397.4(CYBB):c.483+1G>TPathogenic
not provided|Chronic granulomatous disease|Granulomatous disease, chronic, X-linked
★★☆☆2025
NM_000397.4(CYBB):c.252G>A (p.Ala84=)Pathogenic
Granulomatous disease, chronic, X-linked|not provided|Granulomatous disease, chronic, X-linked;X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
★★☆☆2025→ Residue 84
NM_000397.4(CYBB):c.483+3A>TLikely pathogenic
Granulomatous disease, chronic, X-linked|Chronic granulomatous disease
★★☆☆2025
NM_000397.4(CYBB):c.271C>T (p.Arg91Ter)Pathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 91
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)Pathogenic
not provided|Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 309
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter)Pathogenic
not provided|Granulomatous disease, chronic, X-linked|X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency;Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 555
NM_000397.4(CYBB):c.80_83del (p.Val27fs)Pathogenic
Granulomatous disease, chronic, X-linked
★★☆☆2025→ Residue 27
NM_000397.4(CYBB):c.1082G>A (p.Trp361Ter)Pathogenic
Granulomatous disease, chronic, X-linked|not provided
★★☆☆2024→ Residue 361
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter)Pathogenic
Granulomatous disease, chronic, X-linked|not provided
★★☆☆2024→ Residue 280
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)Pathogenic
Granulomatous disease, chronic, X-linked
★★☆☆2024→ Residue 130