CYBA — 461 ClinVar variants
All ClinVar germline CYBA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
26 Pathogenic · 17 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 12 Conflicting · 20 Benign · 2 Benign/Likely benign · 217 Likely benign · 143 Uncertain significance
Full CYBA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYBA p.Gly145Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CYBA p.Gly46Ser
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro156Leu
Conflicting
Single submitter
chronic granulomatous disease
-
CYBA p.Ser118Asn
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYBA p.Ala14Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Ala163Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Ala75Thr
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg164Cys
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg164His
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg56Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Arg67Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Asp192Asn
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu169Lys
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly181Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Gly25Asp
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly39Ser
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Lys58Arg
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Lys71Gln
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro159Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Pro55Ser
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ser98Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Thr132Met
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val27Met
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala112Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala117Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala117Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg127Ser
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg139Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg141Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg158Trp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg32His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg32Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg56Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg56Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg56Trp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Asp192His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Asp192Tyr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gln130His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Gln143Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gln150Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gln3Pro
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu12Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu140Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu162Asp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly177Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Gly182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Gly25Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- CYBA p.Gly25Cys Uncertain significance Single submitter
- CYBA p.Gly25Val Uncertain significance Single submitter
-
CYBA p.His94Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.His94Pro
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ile134Met
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ile188Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Ile22Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Leu105Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Leu122Pro
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Leu21Phe
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Leu95Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Lys60Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Lys60Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Lys71Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Met65Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Phe80Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro133Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro142Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro142Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Pro157Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro160Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro160Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Thr132Ala
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Thr84Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Trp6Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYBA p.Tyr41Asn
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val185Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val92Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gln3His
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Gly69Arg
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Lys71Glu
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Tyr88Asp
Uncertain significance
No assertion criteria
chronic granulomatous disease
Predictors split 47
The independent predictors disagree with each other — read with care.
-
CYBA p.Ala101Thr
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala45Val
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg141Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Arg32Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Gly119Ser
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly81Arg
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro189Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYBA p.Val47Met
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala101Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CYBA p.Ala124Gly Uncertain significance Single submitter
-
CYBA p.Ala175Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala176Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg127Cys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg127His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg127Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Arg85Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Asn86Ser
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu12Asp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu135Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu135Lys
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Glu193Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- CYBA p.Glu53Asp Uncertain significance Single submitter
-
CYBA p.Gly102Ser
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- CYBA p.Gly128Ser Uncertain significance Single submitter
-
CYBA p.Gly39Ala
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly57Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Gly62Ser
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ile134Asn
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ile20Met
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro142Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro151Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro159Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro180Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro180Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro183Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro189Arg
Likely benign
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Pro82Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Thr84Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val195Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val195Met
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val76Met
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Val77Met
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
-
CYBA p.Ala172Gly
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Ala91Thr
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Arg139Trp
Uncertain significance
No assertion criteria
chronic granulomatous disease
-
CYBA p.Gln13His
Uncertain significance
No assertion criteria
chronic granulomatous disease
- CYBA p.Val47Gly Uncertain significance No assertion criteria
All CYBA variants
Pathogenic 26
- c.204-2A>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg56fs Multiple submitters chronic granulomatous disease
- p.Gln3Ter Multiple submitters chronic granulomatous disease
- p.Lys58fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr87Ter Multiple submitters chronic granulomatous disease
- c.288-15C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-2A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+1G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+2T>G Single submitter chronic granulomatous disease
- c.59-2A>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg139fs Single submitter
- p.Gln35Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly145Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile134fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu52Pro Single submitter
- p.Met8fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Phe83fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr23_Gly25del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Trp131Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Trp6Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Trp9Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr37fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr37Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+1G>A No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-13_310del No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala125Thr No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Pathogenic/Likely pathogenic 17
- c.287+1G>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+2T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-1G>T Multiple submitters chronic granulomatous disease
- c.58+2T>C Multiple submitters chronic granulomatous disease
- c.58+4_58+7del Multiple submitters chronic granulomatous disease
- p.Ala124Val Multiple submitters chronic granulomatous disease
- p.Arg90fs Multiple submitters chronic granulomatous disease
- p.Arg90Gln Multiple submitters chronic granulomatous disease
- p.Arg90Trp Multiple submitters chronic granulomatous disease
- p.Glu66Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly24Arg Multiple submitters chronic granulomatous disease
- p.Ile26fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Met1Val Multiple submitters chronic granulomatous disease
- p.Pro157fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ser118Arg Multiple submitters chronic granulomatous disease
- p.Trp36Ter Multiple submitters chronic granulomatous disease
- p.Val99fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Likely pathogenic 24
- c.128+2T>C Multiple submitters chronic granulomatous disease
- c.288-3_300del Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+1G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg90Gly Multiple submitters chronic granulomatous disease
- c.129-1G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+102_404del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+2_287+3del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+2T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.52_58+19delinsA Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+6_58+15del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala106fs Single submitter chronic granulomatous disease
- p.Arg90Pro Single submitter chronic granulomatous disease
- p.Glu129Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu129Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly178fs Single submitter chronic granulomatous disease
- p.Ile116fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys60fs Single submitter chronic granulomatous disease
- p.Pro156Gln Single submitter chronic granulomatous disease
- p.Thr191fs Single submitter chronic granulomatous disease
- p.Tyr121Ter Single submitter chronic granulomatous disease
- p.Tyr41fs Single submitter chronic granulomatous disease
- p.Tyr54fs Single submitter chronic granulomatous disease
Conflicting classifications of pathogenicity 12
- c.204-4C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala176= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala176dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu135Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly145Arg Single submitter Inborn genetic diseases ⚠
- p.Gly46Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Met1Leu Single submitter chronic granulomatous disease
- p.Met1Thr Single submitter chronic granulomatous disease
- p.Pro156fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro156Leu Single submitter chronic granulomatous disease ⚠
- p.Ser118Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val76Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
Benign 20
- c.203+36C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+8T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-162T>C Multiple submitters
- c.288-175T>G Multiple submitters
- c.288-177T>C Multiple submitters
- c.369+205A>G Multiple submitters
- c.58+290C>T Multiple submitters
- c.58+79A>G Multiple submitters
- c.59-37G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.*24G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.*49T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu12= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro160= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr72His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+1058T>C Single submitter
- c.370-116C>T Single submitter
- c.370-49G>A Single submitter
- c.370-50G>A Single submitter
- c.59-288G>A Single submitter
- c.59-300del Single submitter
Benign/Likely benign 2
- c.59-4G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys60Thr Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Likely benign 217
- c.288-202C>T Multiple submitters
- p.Ile188= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile26= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr88= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.128+10del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.128+12C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.128+17G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.128+17G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-10A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-11C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-18T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-8G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+12_203+14del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+14T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+16C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+17T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+18C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.203+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-10C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-10C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-11C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-17C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-18C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-19G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-20C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-4C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-4C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-8_204-5del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.204-9_204-3dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+10C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+10C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+14C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+14C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+15C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+18A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+19C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+20C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+9C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.287+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-11C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-12G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-12G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-15C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-7C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-9G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-9G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+10G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+11C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+12C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+15_369+16del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+15C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+18A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+18A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+19G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+7G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-13C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-16del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-17C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-188C>G Single submitter
- c.370-18C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-19A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-20A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-4G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-720C>G Single submitter
- c.370-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-8C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-9G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+10C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+10dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+13C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+15_58+17dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+15G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+18A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+19C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+20G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+20G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+294G>C Single submitter
- c.58+7G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-13C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-13C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-144G>A Single submitter
- c.59-14A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-19G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-20dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-5C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala101= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala115= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala117= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala124= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala125= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala14= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala161= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala172= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala173= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala175= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala28= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala40= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala45= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala7= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala75= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala91= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg127= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg164= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg32= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Arg56= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Asn11= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Asn154= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Asn186= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Asn86= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Asp192= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Cys50= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gln150= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gln184= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gln70= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu129= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu135= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu162= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu5= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu53= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu66= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly102= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly128= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly177= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly181= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly2= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly46= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly57= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly62= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly81= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile108= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile116= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile120= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile134= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile144= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ile148= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu105= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu15= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu21= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu51= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu52= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu79= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu93= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Leu97= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys137= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys165= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys166= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys58= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys60= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys61= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys71= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Phe33= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Phe38= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Phe80= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Phe83= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro100= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro133= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro136= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro142= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro151= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro156= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro157= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro159= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro179= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro180= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro183= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro187= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro189= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro189Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ser118= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ser168= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ser17= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ser63= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ser98= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr111= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr132= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr191= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr23= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr34= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr64= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr74= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Thr84= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr121= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr41= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr54= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Tyr87= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val174= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val174Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val174delinsAlaAla Single submitter
- p.Val185= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val190= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val194= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val47= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val49= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val77= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val99= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-19C>G No assertion criteria CYBA-related disorder
Uncertain significance 143
- c.203+5G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala101Thr Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala14Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala163Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala45Val Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala75Thr Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg141Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg164Cys Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg164His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg32Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg56Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg67Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp192Asn Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu169Lys Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly119Ser Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly181Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly25Asp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly39Ser Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly81Arg Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Lys58Arg Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Lys71Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro159Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro189Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro55Ser Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ser98Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Thr132Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val27Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val47Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- c.128+5C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.128+5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.129-17T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.288-3del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.369+3G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.370-1G>A Single submitter
- c.370-3C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.58+5G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- c.59-3C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Ala101Pro Single submitter Inborn genetic diseases ⚠
- p.Ala112Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala117Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala117Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala124Gly Single submitter ⚠
- p.Ala175Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ala176Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg127Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg127His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg127Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg127Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg139Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg141Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg158Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg32His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg32Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg56Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg56Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg56Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Arg85Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Asn86Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Asp192His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Asp192Tyr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gln130His Single submitter Inborn genetic diseases ⚠
- p.Gln143Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gln150Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gln3Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu129_Ile144dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu12Asp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu12Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu135Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu140Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu162Asp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu162fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu171Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu193fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Glu193Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Glu53Asp Single submitter ⚠
- p.Gly102Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly128Ser Single submitter ⚠
- p.Gly177Ala Single submitter Inborn genetic diseases ⚠
- p.Gly182Ala Single submitter Inborn genetic diseases ⚠
- p.Gly182fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly2_Met8del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Gly25Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly25Cys Single submitter ⚠
- p.Gly25Val Single submitter ⚠
- p.Gly39Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly57Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Gly62Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.His94Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.His94Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ile134Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ile134Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ile188Thr Single submitter Inborn genetic diseases ⚠
- p.Ile20Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Ile22Thr Single submitter Inborn genetic diseases ⚠
- p.Leu105Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Leu122Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Leu21Phe Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Leu95Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Leu96= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Lys60Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Lys60Met Single submitter Inborn genetic diseases ⚠
- p.Lys71Arg Single submitter Inborn genetic diseases ⚠
- p.Met65Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Phe80Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro133Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro142Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro142Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro142Thr Single submitter Inborn genetic diseases ⚠
- p.Pro151Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro157Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro159Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro160Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro160fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Pro160Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro180Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro180Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro183Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Pro82Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Thr132Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Thr84Asn Single submitter Inborn genetic diseases ⚠
- p.Thr84Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Trp6Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr41Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val185Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val195Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val195Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val44= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- p.Val77Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- p.Val92Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ⚠
- c.370-7C>G No assertion criteria chronic granulomatous disease
- c.58+8C>T No assertion criteria chronic granulomatous disease
- c.-6G>C No assertion criteria chronic granulomatous disease
- p.Ala172Gly No assertion criteria chronic granulomatous disease ⚠
- p.Ala91Thr No assertion criteria chronic granulomatous disease ⚠
- p.Arg139Trp No assertion criteria chronic granulomatous disease ⚠
- p.Arg141_Pro142del No assertion criteria chronic granulomatous disease
- p.Gln13His No assertion criteria chronic granulomatous disease ⚠
- p.Gln3His No assertion criteria chronic granulomatous disease ⚠
- p.Gly69Arg No assertion criteria chronic granulomatous disease ⚠
- p.Lys71Glu No assertion criteria chronic granulomatous disease ⚠
- p.Tyr88Asp No assertion criteria chronic granulomatous disease ⚠
- p.Val47Gly No assertion criteria ⚠