CYBB — 752 ClinVar variants

All ClinVar germline CYBB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

152 Pathogenic · 6 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 19 Conflicting · 56 Benign · 10 Benign/Likely benign · 288 Likely benign · 181 Uncertain significance

Full CYBB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CYBB p.Ala156Thr Pathogenic Single submitter
granulomatous disease, chronic, X-linked

Predictors agree, ClinVar conflicts 12

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CYBB p.Ala233Thr Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala233Val Conflicting Single submitter
Inborn genetic diseases
CYBB p.Ala49Thr Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala57Ser Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn3Thr Conflicting Single submitter
Inborn genetic diseases
CYBB p.Gly179Glu Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly275Asp Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly472Ser Conflicting Single submitter
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
CYBB p.His209Arg Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile411Phe Conflicting Single submitter
Inborn genetic diseases
CYBB p.Leu546Pro Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val243Leu Conflicting Single submitter
granulomatous disease, chronic, X-linked

Predictors lean, ClinVar uncertain 106

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CYBB p.Ala417Ser Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Ala417Thr Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Ala431Thr Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Ala84Val Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Arg287Gln Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Asn128Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Asp447Val Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Gln464Lys Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.His354Tyr Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.His449Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Lys271Thr Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Thr522Ile Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Tyr511His Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Val90Phe Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Ala109Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala113Thr Uncertain significance Single submitter
CYBB p.Ala113Val Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala224Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala263Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala394Val Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala471Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala53Asp Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg226Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg284Gly Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Arg290Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg31Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg356His Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg446Trp Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg513Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg513Trp Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg73Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn154Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn22Ser Uncertain significance Single submitter
CYBB p.Asn22Tyr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn429Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn433Asp Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn489Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn63His Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn63Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn97Lys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asp360His Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asp397Tyr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Cys244Arg Uncertain significance Single submitter
CYBB p.Cys72Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gln459Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gln507Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gln549Glu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Glu375Gly Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly316Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly322Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly389Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly504Ala Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly533Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly9Glu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His115Gln Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His119Gln Uncertain significance Single submitter
CYBB p.His209Tyr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His222Asn Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His239Pro Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His527Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile15Phe Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile217Val Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile308Met Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile419Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Leu110Phe Uncertain significance Single submitter
chronic granulomatous disease
CYBB p.Leu16Pro Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Leu21Ser Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Leu281Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Leu281Phe Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Lys161Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Lys314Glu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Lys331Glu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Met268Val Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Met319Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Met319Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Met65Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Phe317Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Pro260Leu Uncertain significance Single submitter
CYBB p.Pro383Ser Uncertain significance Single submitter
CYBB p.Ser333Pro Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ser475Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr269Ala Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr302Ala Uncertain significance Single submitter
CYBB p.Thr362Lys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr414Lys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr42Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr481Pro Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr509Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Tyr152Cys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Tyr280His Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Tyr476His Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Tyr511Cys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val104Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val243Ala Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val358Ala Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val403Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val561Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val6Ala Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg147Gly Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Gly557Asp Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.His562Asp Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Ile532Val Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Phe399Val Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Thr545Ile Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Trp206Leu Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Val534Asp Uncertain significance No assertion criteria
granulomatous disease, chronic, X-linked

Predictors split 53

The independent predictors disagree with each other — read with care.

CYBB p.Glu402Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Gly166Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Ile221Thr Uncertain significance Multiple submitters
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
CYBB p.Lys438Arg Likely benign Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Pro258Ala Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Ser87Leu Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Thr242Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Trp289Cys Uncertain significance Multiple submitters
granulomatous disease, chronic, X-linked
CYBB p.Val181Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CYBB p.Ala109Ser Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Ala368Val Conflicting Single submitter
Dynein arm defect of respiratory motile cilia
CYBB p.Ala524Val Likely pathogenic Single submitter
CYBB p.Arg199Lys Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Arg559Trp Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn469Ile Uncertain significance Single submitter
CYBB p.Asn469Ser Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn469Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn515Ser Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asn553Ser Uncertain significance Single submitter
CYBB p.Asn7His Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Asp135Glu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Glu256Lys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Gly20Val Uncertain significance Single submitter
CYBB p.Gly364Arg Benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His490Pro Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His494Arg Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.His527Tyr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile108Val Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile187Met Uncertain significance Single submitter
CYBB p.Ile217Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile217Thr Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ile325Val Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Leu75Met Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Lys318Thr Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Lys499Asn Benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Lys499Thr Conflicting Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Met405Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Phe40Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Phe78Leu Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ser11Phe Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ser525Cys Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Thr232Ser Uncertain significance Single submitter
CYBB p.Thr432Ile Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Trp28Ser Uncertain significance Single submitter
Inborn genetic diseases
CYBB p.Tyr207Cys Uncertain significance Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Tyr476Cys Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val358Ile Likely benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Val561Met Benign Single submitter
granulomatous disease, chronic, X-linked
CYBB p.Ala345Ser Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Gln526His Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Lys437Glu Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Pro56Ser Uncertain significance No assertion criteria
chronic granulomatous disease
CYBB p.Val534Ile Uncertain significance No assertion criteria
chronic granulomatous disease

All CYBB variants

Pathogenic 152

c.1151+2T>C Multiple submitters chronic granulomatous disease
c.141+1G>T Multiple submitters granulomatous disease, chronic, X-linked
c.483+1G>A Multiple submitters granulomatous disease, chronic, X-linked
c.483+1G>T Multiple submitters granulomatous disease, chronic, X-linked
c.674+4_674+7del Multiple submitters granulomatous disease, chronic, X-linked
p.Ala57Glu Multiple submitters granulomatous disease, chronic, X-linked
p.Ala84= Multiple submitters X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Arg130Pro Multiple submitters granulomatous disease, chronic, X-linked
p.Arg130Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Arg157Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Arg226Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Arg290Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Arg73Ter Multiple submitters CYBB-related disorder
p.Arg91Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Asp500Tyr Multiple submitters granulomatous disease, chronic, X-linked
p.Cys537Arg Multiple submitters granulomatous disease, chronic, X-linked
p.Glu309Lys Multiple submitters granulomatous disease, chronic, X-linked
p.Glu347fs Multiple submitters granulomatous disease, chronic, X-linked
p.Ile248fs Multiple submitters chronic granulomatous disease
p.Met1Val Multiple submitters granulomatous disease, chronic, X-linked
p.Pro339His Multiple submitters granulomatous disease, chronic, X-linked
p.Pro415His Multiple submitters granulomatous disease, chronic, X-linked
p.Trp361Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Val27fs Multiple submitters granulomatous disease, chronic, X-linked
p.Val321fs Multiple submitters granulomatous disease, chronic, X-linked
c.1150_1151+2del Single submitter granulomatous disease, chronic, X-linked
c.1151+1G>A Single submitter granulomatous disease, chronic, X-linked
c.1152-2A>G Single submitter
c.1314+1_1314+5del Single submitter
c.1314+1G>A Single submitter granulomatous disease, chronic, X-linked
c.1314+1G>C Single submitter granulomatous disease, chronic, X-linked
c.1315-1G>A Single submitter granulomatous disease, chronic, X-linked
c.1315-1G>C Single submitter granulomatous disease, chronic, X-linked
c.141+1del Single submitter granulomatous disease, chronic, X-linked
c.141+1G>A Single submitter
c.141+1G>C Single submitter granulomatous disease, chronic, X-linked
c.1462-56_1586+68dup Single submitter
c.1586+1G>A Single submitter granulomatous disease, chronic, X-linked
c.1586+1G>C Single submitter granulomatous disease, chronic, X-linked
c.252+5G>A Single submitter granulomatous disease, chronic, X-linked
c.253-1G>C Single submitter granulomatous disease, chronic, X-linked
c.337+1G>T Single submitter
c.338-1G>C Single submitter
c.37_45+2del Single submitter granulomatous disease, chronic, X-linked
c.45+1G>T Single submitter granulomatous disease, chronic, X-linked
c.45+2dup Single submitter granulomatous disease, chronic, X-linked
c.46-2A>T Single submitter granulomatous disease, chronic, X-linked
c.483+2T>A Single submitter granulomatous disease, chronic, X-linked
c.484-2A>T Single submitter
c.674+1G>A Single submitter granulomatous disease, chronic, X-linked
c.675-2A>G Single submitter granulomatous disease, chronic, X-linked
c.804+2T>C Single submitter granulomatous disease, chronic, X-linked
c.898-2A>C Single submitter
p.Ala140fs Single submitter
p.Ala156Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg130fs Single submitter
p.Asn149fs Single submitter granulomatous disease, chronic, X-linked
p.Asp500Glu Single submitter granulomatous disease, chronic, X-linked
p.Asp500Gly Single submitter granulomatous disease, chronic, X-linked
p.Asp500His Single submitter
p.Cys257Arg Single submitter granulomatous disease, chronic, X-linked
p.Cys257Ser Single submitter granulomatous disease, chronic, X-linked
p.Cys329Ter Single submitter granulomatous disease, chronic, X-linked
p.Cys64Arg Single submitter granulomatous disease, chronic, X-linked
p.Gln231fs Single submitter granulomatous disease, chronic, X-linked
p.Gln246Ter Single submitter granulomatous disease, chronic, X-linked
p.Gln261Ter Single submitter granulomatous disease, chronic, X-linked
p.Gln374fs Single submitter granulomatous disease, chronic, X-linked
p.Gln466Ter Single submitter granulomatous disease, chronic, X-linked
p.Gln507Ter Single submitter granulomatous disease, chronic, X-linked
p.Gln549Ter Single submitter granulomatous disease, chronic, X-linked
p.Glu150Ter Single submitter
p.Glu256fs Single submitter granulomatous disease, chronic, X-linked
p.Glu336Ter Single submitter
p.Glu568Lys Single submitter granulomatous disease, chronic, X-linked
p.Gly176fs Single submitter granulomatous disease, chronic, X-linked
p.Gly179Arg Single submitter granulomatous disease, chronic, X-linked
p.Gly20Arg Single submitter granulomatous disease, chronic, X-linked
p.Gly252fs Single submitter granulomatous disease, chronic, X-linked
p.Gly322Glu Single submitter granulomatous disease, chronic, X-linked
p.Gly359Arg Single submitter granulomatous disease, chronic, X-linked
p.Gly408Arg Single submitter granulomatous disease, chronic, X-linked
p.Gly408Glu Single submitter
p.Gly412Arg Single submitter granulomatous disease, chronic, X-linked
p.Gly472fs Single submitter granulomatous disease, chronic, X-linked
p.His101Arg Single submitter granulomatous disease, chronic, X-linked
p.His222Arg Single submitter granulomatous disease, chronic, X-linked
p.His222Gln Single submitter granulomatous disease, chronic, X-linked
p.His303fs Single submitter granulomatous disease, chronic, X-linked
p.His303Tyr Single submitter
p.His338Gln Single submitter granulomatous disease, chronic, X-linked
p.His338Tyr Single submitter granulomatous disease, chronic, X-linked
p.Ile187fs Single submitter granulomatous disease, chronic, X-linked
p.Ile189fs Single submitter granulomatous disease, chronic, X-linked
p.Ile241fs Single submitter CYBB-related disorder
p.Ile308fs Single submitter granulomatous disease, chronic, X-linked
p.Ile439fs Single submitter granulomatous disease, chronic, X-linked
p.Leu10fs Single submitter
p.Leu173fs Single submitter granulomatous disease, chronic, X-linked
p.Leu510fs Single submitter granulomatous disease, chronic, X-linked
p.Lys508fs Single submitter granulomatous disease, chronic, X-linked
p.Met1Ile Single submitter granulomatous disease, chronic, X-linked
p.Phe202fs Single submitter
p.Phe216del Single submitter granulomatous disease, chronic, X-linked
p.Phe26fs Single submitter granulomatous disease, chronic, X-linked
p.Phe326fs Single submitter granulomatous disease, chronic, X-linked
p.Phe40fs Single submitter granulomatous disease, chronic, X-linked
p.Phe416fs Single submitter granulomatous disease, chronic, X-linked
p.Phe563fs Single submitter granulomatous disease, chronic, X-linked
p.Pro266fs Single submitter granulomatous disease, chronic, X-linked
p.Pro415Leu Single submitter granulomatous disease, chronic, X-linked
p.Pro558fs Single submitter granulomatous disease, chronic, X-linked
p.Ser235fs Single submitter granulomatous disease, chronic, X-linked
p.Ser525fs Single submitter
p.Ser550fs Single submitter granulomatous disease, chronic, X-linked
p.Trp106Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp18fs Single submitter
p.Trp251fs Single submitter
p.Trp251Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp270Ter Single submitter
p.Trp289fs Single submitter
p.Trp289Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp337Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp380Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp424Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp443Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp483Ter Single submitter
p.Trp4Ter Single submitter granulomatous disease, chronic, X-linked
p.Trp516Arg Single submitter granulomatous disease, chronic, X-linked
p.Tyr201Ter Single submitter granulomatous disease, chronic, X-linked
p.Tyr280Ter Single submitter granulomatous disease, chronic, X-linked
p.Tyr29fs Single submitter
p.Tyr33Ter Single submitter granulomatous disease, chronic, X-linked
p.Tyr41Ter Single submitter granulomatous disease, chronic, X-linked
p.Tyr425Ter Single submitter
p.Tyr440Ter Single submitter granulomatous disease, chronic, X-linked
p.Tyr442Ter Single submitter granulomatous disease, chronic, X-linked
p.Val14fs Single submitter granulomatous disease, chronic, X-linked
p.Val296fs Single submitter granulomatous disease, chronic, X-linked
p.Val71fs Single submitter
c.1151+6T>A No assertion criteria granulomatous disease, chronic, X-linked
c.1462-2A>G No assertion criteria granulomatous disease, chronic, X-linked
c.483+979G>T No assertion criteria granulomatous disease, chronic, X-linked
c.484-262_484-261insLINE1 No assertion criteria granulomatous disease, chronic, X-linked
c.-65C>G No assertion criteria granulomatous disease, chronic, X-linked
p.Cys244Ser No assertion criteria Granulomatous disease, chronic, X-linked, variant
p.Gln231Pro No assertion criteria X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Gly389Ala No assertion criteria Granulomatous disease, chronic, X-linked, variant
p.His303Asn No assertion criteria Granulomatous disease, chronic, X-linked, variant
p.Pro304Arg No assertion criteria granulomatous disease, chronic, X-linked
p.Thr178Pro No assertion criteria X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Tyr30_Arg31delinsTer No assertion criteria granulomatous disease, chronic, X-linked

Pathogenic/Likely pathogenic 6

c.1315-2A>G Multiple submitters granulomatous disease, chronic, X-linked
p.Glu203Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Glu544Ter Multiple submitters granulomatous disease, chronic, X-linked
p.Glu555Ter Multiple submitters X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Lys381fs Multiple submitters granulomatous disease, chronic, X-linked
p.Val413fs Multiple submitters granulomatous disease, chronic, X-linked

Likely pathogenic 40

c.483+3A>T Multiple submitters granulomatous disease, chronic, X-linked
p.Glu540fs Multiple submitters granulomatous disease, chronic, X-linked
p.Ser142Pro Multiple submitters granulomatous disease, chronic, X-linked
c.1152-1G>A Single submitter granulomatous disease, chronic, X-linked
c.1315-1G>T Single submitter
c.142-2A>G Single submitter granulomatous disease, chronic, X-linked
c.1462-1G>A Single submitter
c.252+5G>C Single submitter granulomatous disease, chronic, X-linked
c.45+2del Single submitter granulomatous disease, chronic, X-linked
c.483+5G>A Single submitter granulomatous disease, chronic, X-linked
p.Ala409Glu Single submitter
p.Ala5_Val6insTer Single submitter granulomatous disease, chronic, X-linked
p.Ala524Val Single submitter ⚠
p.Arg199fs Single submitter
p.Arg54Gly Single submitter granulomatous disease, chronic, X-linked
p.Asn489fs Single submitter granulomatous disease, chronic, X-linked
p.Asp500Val Single submitter granulomatous disease, chronic, X-linked
p.Cys445Arg Single submitter
p.Cys537Phe Single submitter granulomatous disease, chronic, X-linked
p.Glu452Ter Single submitter granulomatous disease, chronic, X-linked
p.Glu462Ala Single submitter granulomatous disease, chronic, X-linked
p.Gly179Val Single submitter granulomatous disease, chronic, X-linked
p.Gly223Leu Single submitter X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Gly408Ala Single submitter granulomatous disease, chronic, X-linked
p.His101Tyr Single submitter granulomatous disease, chronic, X-linked
p.His115Tyr Single submitter
p.His354Arg Single submitter
p.Lys161= Single submitter granulomatous disease, chronic, X-linked
p.Met312Lys Single submitter granulomatous disease, chronic, X-linked
p.Phe205Ile Single submitter granulomatous disease, chronic, X-linked
p.Phe262Cys Single submitter granulomatous disease, chronic, X-linked
p.Pro330fs Single submitter
p.Pro390Leu Single submitter
p.Pro415Arg Single submitter granulomatous disease, chronic, X-linked
p.Ser200Phe Single submitter
p.Thr343Pro Single submitter granulomatous disease, chronic, X-linked
p.Thr362Ile Single submitter granulomatous disease, chronic, X-linked
p.Trp361Arg Single submitter granulomatous disease, chronic, X-linked
p.Tyr30Ter Single submitter X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
p.Asn22Lys No assertion criteria granulomatous disease, chronic, X-linked

Conflicting classifications of pathogenicity 19

c.1152-7C>T Single submitter granulomatous disease, chronic, X-linked
c.253-8A>G Single submitter granulomatous disease, chronic, X-linked
c.483+978G>A Single submitter granulomatous disease, chronic, X-linked
p.Ala233Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala233Val Single submitter Inborn genetic diseases ⚠
p.Ala368Val Single submitter Dynein arm defect of respiratory motile cilia ⚠
p.Ala49Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala57Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn3Thr Single submitter Inborn genetic diseases ⚠
p.Gln323= Single submitter granulomatous disease, chronic, X-linked
p.Gly179Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly275Asp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly472Ser Single submitter X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency ⚠
p.His209Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile411Phe Single submitter Inborn genetic diseases ⚠
p.Leu546Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.Lys315del Single submitter granulomatous disease, chronic, X-linked
p.Lys499Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val243Leu Single submitter granulomatous disease, chronic, X-linked ⚠

Benign 56

c.1314+19C>T Multiple submitters granulomatous disease, chronic, X-linked
c.141+48C>G Multiple submitters
c.141+90C>A Multiple submitters
c.142-12C>T Multiple submitters granulomatous disease, chronic, X-linked
c.483+78C>T Multiple submitters granulomatous disease, chronic, X-linked
c.484-60TG[19] Multiple submitters
c.484-60TG[20] Multiple submitters
c.484-60TG[21] Multiple submitters
c.484-60TG[24] Multiple submitters
c.804+118A>G Multiple submitters granulomatous disease, chronic, X-linked
p.Cys72= Multiple submitters granulomatous disease, chronic, X-linked
p.Lys334= Multiple submitters granulomatous disease, chronic, X-linked
c.1151+15C>A Single submitter granulomatous disease, chronic, X-linked
c.1152-16C>T Single submitter granulomatous disease, chronic, X-linked
c.1314+16T>C Single submitter granulomatous disease, chronic, X-linked
c.1315-9del Single submitter granulomatous disease, chronic, X-linked
c.142-338G>T Single submitter
c.142-6T>C Single submitter granulomatous disease, chronic, X-linked
c.1586+74_1586+76dup Single submitter
c.338-304A>G Single submitter
c.483+13T>A Single submitter granulomatous disease, chronic, X-linked
c.483+204T>C Single submitter
c.484-1068T>C Single submitter
c.484-258C>T Single submitter
c.484-61A>G Single submitter
c.674+261A>C Single submitter
c.675-316T>A Single submitter
c.675-4C>T Single submitter granulomatous disease, chronic, X-linked
c.675-8del Single submitter granulomatous disease, chronic, X-linked
c.897+239TG[20] Single submitter
c.897+239TG[22] Single submitter
c.897+239TG[23] Single submitter
c.897+239TG[24] Single submitter
c.897+239TG[25] Single submitter
p.Ala386= Single submitter granulomatous disease, chronic, X-linked
p.Ala471= Single submitter granulomatous disease, chronic, X-linked
p.Ala57= Single submitter granulomatous disease, chronic, X-linked
p.Arg229His Single submitter granulomatous disease, chronic, X-linked
p.Gln459= Single submitter granulomatous disease, chronic, X-linked
p.Gly364Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.His562Arg Single submitter granulomatous disease, chronic, X-linked
p.Ile357= Single submitter granulomatous disease, chronic, X-linked
p.Leu174= Single submitter granulomatous disease, chronic, X-linked
p.Leu434= Single submitter granulomatous disease, chronic, X-linked
p.Lys499Asn Single submitter granulomatous disease, chronic, X-linked ⚠
p.Lys567= Single submitter granulomatous disease, chronic, X-linked
p.Phe563= Single submitter granulomatous disease, chronic, X-linked
p.Pro539= Single submitter granulomatous disease, chronic, X-linked
p.Thr116= Single submitter granulomatous disease, chronic, X-linked
p.Thr183= Single submitter granulomatous disease, chronic, X-linked
p.Thr232= Single submitter granulomatous disease, chronic, X-linked
p.Thr432= Single submitter granulomatous disease, chronic, X-linked
p.Trp4Arg Single submitter granulomatous disease, chronic, X-linked
p.Tyr33= Single submitter granulomatous disease, chronic, X-linked
p.Val387Ile Single submitter granulomatous disease, chronic, X-linked
p.Val561Met Single submitter granulomatous disease, chronic, X-linked ⚠

Benign/Likely benign 10

c.1151+13T>C Multiple submitters granulomatous disease, chronic, X-linked
c.1314+20G>A Multiple submitters granulomatous disease, chronic, X-linked
c.338-13C>T Multiple submitters granulomatous disease, chronic, X-linked
c.46-7T>C Multiple submitters granulomatous disease, chronic, X-linked
c.484-60TG[25] Multiple submitters
c.805-17T>A Multiple submitters granulomatous disease, chronic, X-linked
p.Asp517Glu Multiple submitters granulomatous disease, chronic, X-linked
p.Gly218= Multiple submitters granulomatous disease, chronic, X-linked
p.Ile221= Multiple submitters granulomatous disease, chronic, X-linked
p.Tyr401= Multiple submitters granulomatous disease, chronic, X-linked

Likely benign 288

c.1151+19T>G Multiple submitters granulomatous disease, chronic, X-linked
p.Arg54= Multiple submitters granulomatous disease, chronic, X-linked
p.Asn22= Multiple submitters granulomatous disease, chronic, X-linked
p.Lys438Arg Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Tyr207= Multiple submitters granulomatous disease, chronic, X-linked
c.1151+14A>G Single submitter granulomatous disease, chronic, X-linked
c.1151+17T>C Single submitter granulomatous disease, chronic, X-linked
c.1151+9_1151+10insTA Single submitter granulomatous disease, chronic, X-linked
c.1152-12del Single submitter granulomatous disease, chronic, X-linked
c.1152-151C>T Single submitter
c.1152-19C>A Single submitter granulomatous disease, chronic, X-linked
c.1152-19C>T Single submitter granulomatous disease, chronic, X-linked
c.1152-20T>G Single submitter granulomatous disease, chronic, X-linked
c.1152-237dup Single submitter
c.1314+12C>A Single submitter granulomatous disease, chronic, X-linked
c.1314+13A>C Single submitter granulomatous disease, chronic, X-linked
c.1314+17A>G Single submitter granulomatous disease, chronic, X-linked
c.1314+19C>G Single submitter granulomatous disease, chronic, X-linked
c.1314+20G>T Single submitter granulomatous disease, chronic, X-linked
c.1314+7C>G Single submitter granulomatous disease, chronic, X-linked
c.1314+8C>G Single submitter granulomatous disease, chronic, X-linked
c.1315-10C>A Single submitter granulomatous disease, chronic, X-linked
c.1315-12C>A Single submitter granulomatous disease, chronic, X-linked
c.1315-8A>G Single submitter granulomatous disease, chronic, X-linked
c.141+14C>A Single submitter granulomatous disease, chronic, X-linked
c.141+18C>G Single submitter granulomatous disease, chronic, X-linked
c.141+20C>T Single submitter granulomatous disease, chronic, X-linked
c.141+7A>T Single submitter granulomatous disease, chronic, X-linked
c.142-11G>A Single submitter granulomatous disease, chronic, X-linked
c.142-19C>T Single submitter granulomatous disease, chronic, X-linked
c.142-5T>C Single submitter granulomatous disease, chronic, X-linked
c.1461+11G>C Single submitter granulomatous disease, chronic, X-linked
c.1461+18del Single submitter granulomatous disease, chronic, X-linked
c.1461+196C>G Single submitter
c.1461+8C>G Single submitter granulomatous disease, chronic, X-linked
c.1462-4G>A Single submitter granulomatous disease, chronic, X-linked
c.1462-6C>T Single submitter granulomatous disease, chronic, X-linked
c.1462-6del Single submitter granulomatous disease, chronic, X-linked
c.1462-7C>A Single submitter granulomatous disease, chronic, X-linked
c.1462-7C>T Single submitter granulomatous disease, chronic, X-linked
c.1462-9T>C Single submitter granulomatous disease, chronic, X-linked
c.1586+13T>C Single submitter granulomatous disease, chronic, X-linked
c.1586+14C>T Single submitter granulomatous disease, chronic, X-linked
c.1586+17C>A Single submitter granulomatous disease, chronic, X-linked
c.1586+8G>A Single submitter granulomatous disease, chronic, X-linked
c.1587-11T>C Single submitter granulomatous disease, chronic, X-linked
c.1587-12C>G Single submitter granulomatous disease, chronic, X-linked
c.1587-17T>C Single submitter granulomatous disease, chronic, X-linked
c.1587-5A>G Single submitter granulomatous disease, chronic, X-linked
c.1587-6C>T Single submitter granulomatous disease, chronic, X-linked
c.1587-9T>C Single submitter granulomatous disease, chronic, X-linked
c.252+11A>G Single submitter granulomatous disease, chronic, X-linked
c.252+14T>A Single submitter granulomatous disease, chronic, X-linked
c.252+18A>G Single submitter granulomatous disease, chronic, X-linked
c.252+7G>A Single submitter granulomatous disease, chronic, X-linked
c.253-11T>A Single submitter granulomatous disease, chronic, X-linked
c.253-12C>T Single submitter granulomatous disease, chronic, X-linked
c.253-14C>T Single submitter granulomatous disease, chronic, X-linked
c.253-20C>A Single submitter granulomatous disease, chronic, X-linked
c.253-6C>A Single submitter granulomatous disease, chronic, X-linked
c.253-7T>C Single submitter granulomatous disease, chronic, X-linked
c.337+13A>G Single submitter granulomatous disease, chronic, X-linked
c.337+157T>A Single submitter
c.337+15G>T Single submitter granulomatous disease, chronic, X-linked
c.337+18A>C Single submitter granulomatous disease, chronic, X-linked
c.337+8T>A Single submitter granulomatous disease, chronic, X-linked
c.337+9A>G Single submitter granulomatous disease, chronic, X-linked
c.338-10C>T Single submitter granulomatous disease, chronic, X-linked
c.338-11G>A Single submitter granulomatous disease, chronic, X-linked
c.338-15_338-13del Single submitter granulomatous disease, chronic, X-linked
c.338-16T>C Single submitter granulomatous disease, chronic, X-linked
c.338-18C>A Single submitter granulomatous disease, chronic, X-linked
c.338-18C>G Single submitter granulomatous disease, chronic, X-linked
c.338-7T>C Single submitter granulomatous disease, chronic, X-linked
c.338-8C>T Single submitter granulomatous disease, chronic, X-linked
c.45+18A>G Single submitter granulomatous disease, chronic, X-linked
c.45+8C>T Single submitter granulomatous disease, chronic, X-linked
c.45+9C>G Single submitter granulomatous disease, chronic, X-linked
c.483+100dup Single submitter
c.483+7C>T Single submitter granulomatous disease, chronic, X-linked
c.483+848G>A Single submitter
c.484-11A>G Single submitter granulomatous disease, chronic, X-linked
c.484-14_484-13insAT Single submitter granulomatous disease, chronic, X-linked
c.484-15G>T Single submitter granulomatous disease, chronic, X-linked
c.484-60TG[16] Single submitter
c.484-60TG[17] Single submitter
c.484-60TG[18] Single submitter
c.484-60TG[22] Single submitter
c.484-60TG[26] Single submitter
c.484-844C>G Single submitter
c.484-9A>G Single submitter granulomatous disease, chronic, X-linked
c.674+13A>G Single submitter granulomatous disease, chronic, X-linked
c.674+14T>C Single submitter granulomatous disease, chronic, X-linked
c.674+16C>T Single submitter granulomatous disease, chronic, X-linked
c.674+20A>G Single submitter granulomatous disease, chronic, X-linked
c.675-1157A>C Single submitter granulomatous disease, chronic, X-linked
c.675-14C>T Single submitter granulomatous disease, chronic, X-linked
c.675-15dup Single submitter granulomatous disease, chronic, X-linked
c.675-296T>G Single submitter
c.675-3del Single submitter granulomatous disease, chronic, X-linked
c.675-5C>T Single submitter granulomatous disease, chronic, X-linked
c.804+10A>G Single submitter granulomatous disease, chronic, X-linked
c.804+13C>A Single submitter granulomatous disease, chronic, X-linked
c.804+15T>A Single submitter granulomatous disease, chronic, X-linked
c.804+16T>C Single submitter granulomatous disease, chronic, X-linked
c.804+19T>A Single submitter granulomatous disease, chronic, X-linked
c.804+8C>A Single submitter granulomatous disease, chronic, X-linked
c.804+8C>T Single submitter granulomatous disease, chronic, X-linked
c.804+9_804+12dup Single submitter granulomatous disease, chronic, X-linked
c.805-10_805-9del Single submitter granulomatous disease, chronic, X-linked
c.805-12C>T Single submitter granulomatous disease, chronic, X-linked
c.805-4A>G Single submitter granulomatous disease, chronic, X-linked
c.897+20T>C Single submitter granulomatous disease, chronic, X-linked
c.897+239TG[19] Single submitter
c.897+276G>T Single submitter
c.897+7A>C Single submitter granulomatous disease, chronic, X-linked
c.897+8T>C Single submitter granulomatous disease, chronic, X-linked
c.898-10T>A Single submitter granulomatous disease, chronic, X-linked
c.898-15T>A Single submitter granulomatous disease, chronic, X-linked
c.898-18A>G Single submitter granulomatous disease, chronic, X-linked
c.898-19C>T Single submitter granulomatous disease, chronic, X-linked
c.898-4A>G Single submitter granulomatous disease, chronic, X-linked
c.898-9A>G Single submitter granulomatous disease, chronic, X-linked
p.Ala105= Single submitter granulomatous disease, chronic, X-linked
p.Ala109= Single submitter granulomatous disease, chronic, X-linked
p.Ala113= Single submitter granulomatous disease, chronic, X-linked
p.Ala118= Single submitter granulomatous disease, chronic, X-linked
p.Ala156Asp Single submitter granulomatous disease, chronic, X-linked
p.Ala224Thr Single submitter granulomatous disease, chronic, X-linked
p.Ala345= Single submitter granulomatous disease, chronic, X-linked
p.Ala368= Single submitter granulomatous disease, chronic, X-linked
p.Ala379= Single submitter granulomatous disease, chronic, X-linked
p.Ala450= Single submitter granulomatous disease, chronic, X-linked
p.Ala455= Single submitter granulomatous disease, chronic, X-linked
p.Ala51= Single submitter granulomatous disease, chronic, X-linked
p.Ala524= Single submitter granulomatous disease, chronic, X-linked
p.Ala53= Single submitter granulomatous disease, chronic, X-linked
p.Arg130= Single submitter granulomatous disease, chronic, X-linked
p.Arg199Lys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg287= Single submitter granulomatous disease, chronic, X-linked
p.Arg31= Single submitter granulomatous disease, chronic, X-linked
p.Arg31Trp Single submitter granulomatous disease, chronic, X-linked
p.Arg43= Single submitter granulomatous disease, chronic, X-linked
p.Arg446= Single submitter granulomatous disease, chronic, X-linked
p.Arg513= Single submitter granulomatous disease, chronic, X-linked
p.Arg559= Single submitter granulomatous disease, chronic, X-linked
p.Arg559Gln Single submitter granulomatous disease, chronic, X-linked
p.Arg89= Single submitter granulomatous disease, chronic, X-linked
p.Arg96= Single submitter granulomatous disease, chronic, X-linked
p.Asn128= Single submitter granulomatous disease, chronic, X-linked
p.Asn430= Single submitter granulomatous disease, chronic, X-linked
p.Asn470= Single submitter granulomatous disease, chronic, X-linked
p.Asn515= Single submitter granulomatous disease, chronic, X-linked
p.Asn515Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn518Lys Single submitter granulomatous disease, chronic, X-linked
p.Asn7= Single submitter granulomatous disease, chronic, X-linked
p.Asp34= Single submitter granulomatous disease, chronic, X-linked
p.Asp456= Single submitter granulomatous disease, chronic, X-linked
p.Asp95= Single submitter granulomatous disease, chronic, X-linked
p.Cys257= Single submitter granulomatous disease, chronic, X-linked
p.Cys282= Single submitter granulomatous disease, chronic, X-linked
p.Cys329= Single submitter granulomatous disease, chronic, X-linked
p.Gln246Glu Single submitter granulomatous disease, chronic, X-linked
p.Gln292= Single submitter granulomatous disease, chronic, X-linked
p.Gln374= Single submitter granulomatous disease, chronic, X-linked
p.Gln526= Single submitter granulomatous disease, chronic, X-linked
p.Gln549= Single submitter granulomatous disease, chronic, X-linked
p.Gln93= Single submitter granulomatous disease, chronic, X-linked
p.Glu124= Single submitter granulomatous disease, chronic, X-linked
p.Glu336= Single submitter granulomatous disease, chronic, X-linked
p.Glu348= Single submitter granulomatous disease, chronic, X-linked
p.Glu363= Single submitter granulomatous disease, chronic, X-linked
p.Glu462= Single submitter granulomatous disease, chronic, X-linked
p.Glu467= Single submitter granulomatous disease, chronic, X-linked
p.Glu519= Single submitter granulomatous disease, chronic, X-linked
p.Gly166= Single submitter granulomatous disease, chronic, X-linked
p.Gly2= Single submitter granulomatous disease, chronic, X-linked
p.Gly20= Single submitter granulomatous disease, chronic, X-linked
p.Gly275= Single submitter granulomatous disease, chronic, X-linked
p.Gly316= Single submitter granulomatous disease, chronic, X-linked
p.Gly359= Single submitter granulomatous disease, chronic, X-linked
p.Gly412= Single submitter granulomatous disease, chronic, X-linked
p.Gly472= Single submitter granulomatous disease, chronic, X-linked
p.Gly512= Single submitter granulomatous disease, chronic, X-linked
p.Gly81= Single submitter granulomatous disease, chronic, X-linked
p.Gly9= Single submitter granulomatous disease, chronic, X-linked
p.His111= Single submitter granulomatous disease, chronic, X-linked
p.His115= Single submitter granulomatous disease, chronic, X-linked
p.His119= Single submitter granulomatous disease, chronic, X-linked
p.His354= Single submitter granulomatous disease, chronic, X-linked
p.His527= Single submitter granulomatous disease, chronic, X-linked
p.Ile12Leu Single submitter
p.Ile15Val Single submitter granulomatous disease, chronic, X-linked
p.Ile214= Single submitter granulomatous disease, chronic, X-linked
p.Ile241Leu Single submitter granulomatous disease, chronic, X-linked
p.Ile248= Single submitter granulomatous disease, chronic, X-linked
p.Ile273Val Single submitter granulomatous disease, chronic, X-linked
p.Ile308= Single submitter granulomatous disease, chronic, X-linked
p.Ile325= Single submitter granulomatous disease, chronic, X-linked
p.Ile325Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile353= Single submitter granulomatous disease, chronic, X-linked
p.Ile439= Single submitter granulomatous disease, chronic, X-linked
p.Leu10= Single submitter granulomatous disease, chronic, X-linked
p.Leu120= Single submitter granulomatous disease, chronic, X-linked
p.Leu173= Single submitter granulomatous disease, chronic, X-linked
p.Leu188= Single submitter granulomatous disease, chronic, X-linked
p.Leu281= Single submitter granulomatous disease, chronic, X-linked
p.Leu285= Single submitter granulomatous disease, chronic, X-linked
p.Leu342= Single submitter granulomatous disease, chronic, X-linked
p.Leu365= Single submitter granulomatous disease, chronic, X-linked
p.Leu420= Single submitter granulomatous disease, chronic, X-linked
p.Leu436= Single submitter granulomatous disease, chronic, X-linked
p.Leu457= Single submitter granulomatous disease, chronic, X-linked
p.Leu52= Single submitter granulomatous disease, chronic, X-linked
p.Leu542= Single submitter granulomatous disease, chronic, X-linked
p.Leu66= Single submitter granulomatous disease, chronic, X-linked
p.Leu68= Single submitter granulomatous disease, chronic, X-linked
p.Leu76= Single submitter granulomatous disease, chronic, X-linked
p.Leu94= Single submitter granulomatous disease, chronic, X-linked
p.Lys158= Single submitter granulomatous disease, chronic, X-linked
p.Lys158Arg Single submitter granulomatous disease, chronic, X-linked
p.Lys271= Single submitter granulomatous disease, chronic, X-linked
p.Lys315= Single submitter granulomatous disease, chronic, X-linked
p.Lys318Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Lys521= Single submitter granulomatous disease, chronic, X-linked
p.Met465Ile Single submitter granulomatous disease, chronic, X-linked
p.Phe13= Single submitter granulomatous disease, chronic, X-linked
p.Phe212= Single submitter granulomatous disease, chronic, X-linked
p.Phe340= Single submitter granulomatous disease, chronic, X-linked
p.Phe399= Single submitter granulomatous disease, chronic, X-linked
p.Phe416= Single submitter granulomatous disease, chronic, X-linked
p.Phe535= Single submitter granulomatous disease, chronic, X-linked
p.Phe78= Single submitter granulomatous disease, chronic, X-linked
p.Pro260= Single submitter granulomatous disease, chronic, X-linked
p.Pro390= Single submitter granulomatous disease, chronic, X-linked
p.Ser11= Single submitter granulomatous disease, chronic, X-linked
p.Ser138= Single submitter granulomatous disease, chronic, X-linked
p.Ser151Asn Single submitter granulomatous disease, chronic, X-linked
p.Ser192= Single submitter granulomatous disease, chronic, X-linked
p.Ser235= Single submitter granulomatous disease, chronic, X-linked
p.Ser344= Single submitter granulomatous disease, chronic, X-linked
p.Ser395= Single submitter granulomatous disease, chronic, X-linked
p.Ser422= Single submitter granulomatous disease, chronic, X-linked
p.Ser525Cys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ser547= Single submitter granulomatous disease, chronic, X-linked
p.Ser550= Single submitter granulomatous disease, chronic, X-linked
p.Ser552= Single submitter granulomatous disease, chronic, X-linked
p.Ser77= Single submitter granulomatous disease, chronic, X-linked
p.Ser82= Single submitter granulomatous disease, chronic, X-linked
p.Ter571= Single submitter granulomatous disease, chronic, X-linked
p.Thr208= Single submitter granulomatous disease, chronic, X-linked
p.Thr242= Single submitter granulomatous disease, chronic, X-linked
p.Thr269= Single submitter granulomatous disease, chronic, X-linked
p.Thr302= Single submitter granulomatous disease, chronic, X-linked
p.Thr307= Single submitter granulomatous disease, chronic, X-linked
p.Thr343= Single submitter granulomatous disease, chronic, X-linked
p.Thr42= Single submitter granulomatous disease, chronic, X-linked
p.Thr448= Single submitter granulomatous disease, chronic, X-linked
p.Thr503= Single submitter granulomatous disease, chronic, X-linked
p.Thr530= Single submitter granulomatous disease, chronic, X-linked
p.Thr545= Single submitter granulomatous disease, chronic, X-linked
p.Thr99= Single submitter granulomatous disease, chronic, X-linked
p.Tyr152= Single submitter granulomatous disease, chronic, X-linked
p.Tyr324= Single submitter granulomatous disease, chronic, X-linked
p.Tyr41= Single submitter granulomatous disease, chronic, X-linked
p.Tyr476Cys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val123= Single submitter granulomatous disease, chronic, X-linked
p.Val139= Single submitter granulomatous disease, chronic, X-linked
p.Val14= Single submitter granulomatous disease, chronic, X-linked
p.Val17= Single submitter granulomatous disease, chronic, X-linked
p.Val171= Single submitter granulomatous disease, chronic, X-linked
p.Val181= Single submitter granulomatous disease, chronic, X-linked
p.Val204= Single submitter granulomatous disease, chronic, X-linked
p.Val213= Single submitter granulomatous disease, chronic, X-linked
p.Val228= Single submitter granulomatous disease, chronic, X-linked
p.Val238= Single submitter granulomatous disease, chronic, X-linked
p.Val23Ile Single submitter granulomatous disease, chronic, X-linked
p.Val274= Single submitter granulomatous disease, chronic, X-linked
p.Val295= Single submitter granulomatous disease, chronic, X-linked
p.Val332= Single submitter granulomatous disease, chronic, X-linked
p.Val358Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val398= Single submitter granulomatous disease, chronic, X-linked
p.Val403= Single submitter granulomatous disease, chronic, X-linked
p.Val407= Single submitter granulomatous disease, chronic, X-linked
p.Val501= Single submitter granulomatous disease, chronic, X-linked
p.Val71= Single submitter granulomatous disease, chronic, X-linked
c.674+1332C>T No assertion criteria CYBB-related disorder
p.Arg468= No assertion criteria chronic granulomatous disease

Uncertain significance 181

p.Ala417Ser Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Ala417Thr Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Ala431Thr Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Ala84Val Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Arg287Gln Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Asn128Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp447Val Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Gln464Lys Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Glu402Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly166Asp Multiple submitters Inborn genetic diseases ⚠
p.His354Tyr Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.His449Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile221Thr Multiple submitters X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency ⚠
p.Lys271Thr Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Pro258Ala Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Ser87Leu Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Thr242Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr522Ile Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Trp289Cys Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Tyr511His Multiple submitters granulomatous disease, chronic, X-linked ⚠
p.Val181Ala Multiple submitters Inborn genetic diseases ⚠
p.Val90Phe Multiple submitters granulomatous disease, chronic, X-linked ⚠
c.1314+5G>A Single submitter granulomatous disease, chronic, X-linked
c.1314+6T>A Single submitter granulomatous disease, chronic, X-linked
c.1461+6G>T Single submitter granulomatous disease, chronic, X-linked
c.1587-1G>C Single submitter granulomatous disease, chronic, X-linked
c.1587-2A>G Single submitter granulomatous disease, chronic, X-linked
c.1587-6_1606del Single submitter granulomatous disease, chronic, X-linked
c.252+3A>T Single submitter granulomatous disease, chronic, X-linked
c.45+3A>C Single submitter granulomatous disease, chronic, X-linked
c.46-14T>G Single submitter granulomatous disease, chronic, X-linked
c.483+6C>A Single submitter granulomatous disease, chronic, X-linked
c.674+34T>G Single submitter
c.674+5G>A Single submitter granulomatous disease, chronic, X-linked
c.674+62dup Single submitter
c.674+6T>C Single submitter granulomatous disease, chronic, X-linked
c.674+6T>G Single submitter granulomatous disease, chronic, X-linked
c.675-1157A>G Single submitter granulomatous disease, chronic, X-linked
c.675-12T>G Single submitter granulomatous disease, chronic, X-linked
c.897+4C>G Single submitter granulomatous disease, chronic, X-linked
c.897+6G>A Single submitter granulomatous disease, chronic, X-linked
p.Ala109Ser Single submitter Inborn genetic diseases ⚠
p.Ala109Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala113Thr Single submitter ⚠
p.Ala113Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala224Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala263Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala394Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala471Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ala53Asp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg226Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg284Gly Single submitter Inborn genetic diseases ⚠
p.Arg290Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg31Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg356His Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg446Trp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg513Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg513Trp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg559Trp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Arg73Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn154Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn22Ser Single submitter ⚠
p.Asn22Tyr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn429Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn433Asp Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn469Ile Single submitter ⚠
p.Asn469Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn469Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn489Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn553Ser Single submitter ⚠
p.Asn63His Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn63Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn7His Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asn97Lys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asp135Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asp360His Single submitter granulomatous disease, chronic, X-linked ⚠
p.Asp397Tyr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Cys244Arg Single submitter ⚠
p.Cys72Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gln459Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gln507Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gln549Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Glu256Lys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Glu375Gly Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly20_Leu21insTer Single submitter granulomatous disease, chronic, X-linked
p.Gly20Val Single submitter ⚠
p.Gly316Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly322Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly389Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly504Ala Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly533Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Gly9Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.His115Gln Single submitter granulomatous disease, chronic, X-linked ⚠
p.His119Gln Single submitter ⚠
p.His119Thr Single submitter granulomatous disease, chronic, X-linked
p.His209Tyr Single submitter granulomatous disease, chronic, X-linked ⚠
p.His222Asn Single submitter granulomatous disease, chronic, X-linked ⚠
p.His239Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.His490Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.His494Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.His527Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.His527Tyr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile108Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile15Phe Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile187Met Single submitter ⚠
p.Ile197_Arg198insIleThrLeuCysLeuIleLeuIleIleThrSerSerThrLysThrIle Single submitter granulomatous disease, chronic, X-linked
p.Ile217Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile217Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile217Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile308Met Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ile419Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Leu110Phe Single submitter chronic granulomatous disease ⚠
p.Leu16Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.Leu21Ser Single submitter Inborn genetic diseases ⚠
p.Leu281Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Leu281Phe Single submitter granulomatous disease, chronic, X-linked ⚠
p.Leu458del Single submitter granulomatous disease, chronic, X-linked
p.Leu461_Met465del Single submitter
p.Leu75Met Single submitter Inborn genetic diseases ⚠
p.Lys161Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Lys314Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Lys331Glu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Met268Val Single submitter granulomatous disease, chronic, X-linked ⚠
p.Met319Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Met319Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Met405Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Met65Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Phe317Ser Single submitter granulomatous disease, chronic, X-linked ⚠
p.Phe40Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Phe78Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Pro260Leu Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Ser112= Single submitter granulomatous disease, chronic, X-linked
p.Ser11Phe Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ser333Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.Ser475Thr Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr232Ser Single submitter ⚠
p.Thr269Ala Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr302Ala Single submitter ⚠
p.Thr362Lys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr414Lys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr42Arg Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr432Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr481Pro Single submitter granulomatous disease, chronic, X-linked ⚠
p.Thr509Ile Single submitter granulomatous disease, chronic, X-linked ⚠
p.Trp28Ser Single submitter Inborn genetic diseases ⚠
p.Tyr152Cys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Tyr207Cys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Tyr280His Single submitter granulomatous disease, chronic, X-linked ⚠
p.Tyr476His Single submitter Inborn genetic diseases ⚠
p.Tyr511Cys Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val104Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val243Ala Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val358Ala Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val403Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val561Leu Single submitter granulomatous disease, chronic, X-linked ⚠
p.Val6Ala Single submitter granulomatous disease, chronic, X-linked ⚠
c.1315-10C>T No assertion criteria chronic granulomatous disease
c.252+6A>G No assertion criteria chronic granulomatous disease
c.483+977G>C No assertion criteria chronic granulomatous disease
c.674+1081G>A No assertion criteria chronic granulomatous disease
c.804+7A>G No assertion criteria chronic granulomatous disease
c.805-4del No assertion criteria chronic granulomatous disease
c.*1C>T No assertion criteria chronic granulomatous disease
p.Ala345Ser No assertion criteria chronic granulomatous disease ⚠
p.Arg147Gly No assertion criteria chronic granulomatous disease ⚠
p.Asp135= No assertion criteria chronic granulomatous disease
p.Gln526His No assertion criteria chronic granulomatous disease ⚠
p.Gly557Asp No assertion criteria chronic granulomatous disease ⚠
p.His562Asp No assertion criteria chronic granulomatous disease ⚠
p.Ile532Val No assertion criteria chronic granulomatous disease ⚠
p.Lys437Glu No assertion criteria chronic granulomatous disease ⚠
p.Phe399Val No assertion criteria chronic granulomatous disease ⚠
p.Phe570= No assertion criteria chronic granulomatous disease
p.Pro56Ser No assertion criteria chronic granulomatous disease ⚠
p.Thr196= No assertion criteria chronic granulomatous disease
p.Thr545Ile No assertion criteria chronic granulomatous disease ⚠
p.Trp206Leu No assertion criteria chronic granulomatous disease ⚠
p.Val27= No assertion criteria chronic granulomatous disease
p.Val534Asp No assertion criteria granulomatous disease, chronic, X-linked ⚠
p.Val534Ile No assertion criteria chronic granulomatous disease ⚠