Sugi Variant

Sugi Variant/NCF2

NCF2 — 642 ClinVar variants

All ClinVar germline NCF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

38 Pathogenic · 10 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 23 Conflicting · 31 Benign · 16 Benign/Likely benign · 314 Likely benign · 184 Uncertain significance

Full NCF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 159

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.

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 123

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

Predictors split 26

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

All NCF2 variants

Pathogenic 38

  • c.175-1G>A Multiple submitters NCF2-related disorder
  • c.366+1G>A Multiple submitters NCF2-related disorder
  • p.Arg102Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg66Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg77Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln192Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln367Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys19_Asp21del Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys391fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr279fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+1G>C Single submitter
  • c.501+1G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.713+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.(?_-1 Single submitter Autosomal recessive chronic granulomatous disease
  • p.Cys291Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln115Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln189Ter Single submitter
  • p.Gln304Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu243fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.His302fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.His389fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ile159fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys161fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys196fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys440_Glu441insTer Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys58Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Met1Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Met79fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser347fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr84fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Trp10Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Trp22Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Trp277Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Trp425Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr82Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Val14fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Val208fs Single submitter chronic granulomatous disease
  • p.Lys134fs No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Pathogenic/Likely pathogenic 10

  • c.257+1G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala140fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala202Val Multiple submitters chronic granulomatous disease
  • p.Arg184Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln100Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln285His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln374Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu388Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Trp167Ter Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr394Asp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Likely pathogenic 26

  • c.714-2A>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+1G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+1G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-1G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+2T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+1G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+2T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-2A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala128Val Single submitter chronic granulomatous disease
  • p.Arg66fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln305Ter Single submitter NCF2-related disorder
  • p.Gln308Ter Single submitter NCF2-related disorder
  • p.Gln367fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu480fs Single submitter chronic granulomatous disease
  • p.Gly24fs Single submitter NCF2-related disorder
  • p.Gly78Glu Single submitter NCF2-related disorder
  • p.Ile301fs Single submitter NCF2-related disorder
  • p.Leu424fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys391_Leu392insTer Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser406fs Single submitter
  • p.Tyr125_Asn126delinsTer Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Conflicting classifications of pathogenicity 23

  • c.1178+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-4C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-15C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.*97A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala31= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala97Asp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg188Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg38Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg395Gln Single submitter NCF2-related disorder ⚠
  • p.Arg66= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg66Gln Single submitter Inborn genetic diseases ⚠
  • p.Asp212= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln100Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln306= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly273= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys342= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Met1Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro313Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ser332= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr148Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr279= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr361Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr516Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠

Benign 31

Benign/Likely benign 16

  • c.1001-10T>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+8G>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-13C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-16G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-18C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.-129T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala202= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg386Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg395Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn419Ile Multiple submitters developmental and epileptic encephalopathy, 28 ⚠
  • p.His389Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys181Arg Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro454Ser Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser215= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr279Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Val297Ala Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Likely benign 314

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1291-16C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+20T>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.258-13del Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.258-8T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-17C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-13C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+20del Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-19C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-31G>A Multiple submitters
  • p.Ala120= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn126= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn283= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn42= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn52= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp316= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp408= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp482= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp518His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Cys514= Multiple submitters Inborn genetic diseases
  • p.Gln221= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu309= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu182= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr148= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr358= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Val526= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+13G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+14G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+15A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+8G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1000+8G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-12T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-14dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-18C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-4T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1001-6A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+11T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+12C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+13_1026+14dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+16C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+18T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1026+19A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-12C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-12del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-15T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-19T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-4T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-6A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-6A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1027-6A>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+12G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+17C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1178+20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-10C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-12A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-20T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-20T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-5C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1179-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+10A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+12G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+15G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+15G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+17G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1290+18C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-13T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-5T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-6T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-9T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1468+11C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1468+12T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1468+18A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1468+19C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1469-4T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1469-5_1469-2dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1469-5_1469-4dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1469-5A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+10G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+11G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+14C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+14C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+14C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.174+16T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-12T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-149G>A Single submitter
  • c.175-15C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-209G>A Single submitter
  • c.175-5C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-8C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-8C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.175-9T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.257+14T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.257+274C>T Single submitter
  • c.258-16T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.258-18T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.258-4G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.258-9G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+12A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+12dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+15dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.366+214C>A Single submitter
  • c.367-11T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-11T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-17_367-16delinsAA Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.367-4C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+12G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+13G>A Single submitter
  • c.501+187G>T Single submitter
  • c.501+18G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+19C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+20A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+20A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+7G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-12T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-17C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-17C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-18A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.502-7G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+13G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+13G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+18G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.609+9G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.610-15T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.610-19C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.610-276del Single submitter
  • c.610-296_610-295dup Single submitter
  • c.610-7A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.610-8G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+10T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+16C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+16C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+17C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+18T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+5_669+15del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-114T>G Single submitter
  • c.670-12A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-13G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-17T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-20T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-7T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-9G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.713+10A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-11A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-17G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-17G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-18T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-20C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-6C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-6C>T Single submitter
  • c.714-8C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+10G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+10G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+14C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+15A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+16G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+17G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+20_855+23del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+7A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+8G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.855+8G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.856-16T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.856-18T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.856-6C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.856-7A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+12C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+17G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+18C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+20T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+7T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.924+8G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-13_925-12del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-15C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-16_925-14del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-18G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-19C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-6C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-7C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-8G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.925-8G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.-4A>T Single submitter
  • c.*272_*274dup Single submitter
  • p.Ala128= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala145= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala147= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala162= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala17= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala206= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala25= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala278= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala319= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala470= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala56= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg155= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg184= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg300= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg376= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg395= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg397= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Arg77= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn104= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn265= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn419= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn428= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn449= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn65= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp108= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp67= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Cys165= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Cys45= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln100= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln260= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gln461= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu141= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu142= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu164= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu340= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu343= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu520= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Glu85= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly113= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly369= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly415= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly434= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly459= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly497= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly501= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ile159= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ile484= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ile505= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ile91= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu101= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu144= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu146= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu171= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu193= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu199= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu248= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu259= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu26= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu299= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu3= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu331= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu346= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu354= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu387= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu402= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu422= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys110= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys151= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys19= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys20= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys345= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys359= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys365= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys382= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys391= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys418= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys444= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Phe116= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Phe129= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro185= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro229= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro231= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro253= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro263= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro307= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro313= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro329= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro35= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro351= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro368= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro371= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro404= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro473= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser157= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser2= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser312= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser315= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ser467= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ter527= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr361= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr429= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr471= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr48= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr517= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr372= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr394= Single submitter
  • p.Tyr468= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr74= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Uncertain significance 184

  • c.366+3A>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala17Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg102Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg246His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg376Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg38Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg397Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg397Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg523Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg523Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg77Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asp108Val Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp34Gly Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp412Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp446Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln416Arg Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.His357Tyr Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Pro231Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Pro320Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro351Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser30Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser311Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser488Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser8Ile Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr390Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Trp414Cys Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Tyr352Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr82Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr87Asn Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val205Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val247Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val32Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1291-3C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.1291-6T>C Single submitter
  • c.1469-1G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+4A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.501+6C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.610-3T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+4A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.669+6G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.670-4A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.713+4A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.714-5T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.-98T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • c.*262C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala120Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala132Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala132Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Ala162Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala162Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala239Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala447Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala515Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala515Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala59Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala71Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala90Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala97Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala97Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ala97Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg184Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg300Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg386Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg395Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Arg524fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn104Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asn104Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Asn274Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asn428Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asn65Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp18Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp316Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp398Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp412Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp482Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp518Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp67Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Asp67Tyr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Cys291Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Cys499fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Cys514Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln100Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln115His Single submitter Inborn genetic diseases ⚠
  • p.Gln189Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln455Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gln479His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu136Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu173Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu241Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu310Asp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu340Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu384Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu441Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu496Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu496Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Glu525fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly103Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly113Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly273_Trp277del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly287Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly327Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly369Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly44Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Gly459Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly481Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Gly501Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.His156Leu Single submitter ⚠
  • p.His357= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.His389Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ile107Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ile159Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile236Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ile266Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile317Phe Single submitter ⚠
  • p.Ile39Ser Single submitter ⚠
  • p.Ile43Val Single submitter Inborn genetic diseases ⚠
  • p.Ile505Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ile7Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ile91Val Single submitter Inborn genetic diseases ⚠
  • p.Leu171Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu199Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Leu248Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Leu26Met Single submitter ⚠
  • p.Leu476Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Leu487Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Leu519Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Leu94Phe Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys138Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys139Arg Single submitter ⚠
  • p.Lys196Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys201Gln Single submitter Inborn genetic diseases
  • p.Lys23Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys271Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys272del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys355Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys440Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys500Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys508Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys508Asn Single submitter ⚠
  • p.Lys508fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys58Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Lys58del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Lys95Thr Single submitter Inborn genetic diseases ⚠
  • p.Met163Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Met350Thr Single submitter ⚠
  • p.Met46Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Met53Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Pro253Ser Single submitter Inborn genetic diseases
  • p.Pro290Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Pro296Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro326Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Pro333= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro473Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Pro507Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ser157Cys Single submitter ⚠
  • p.Ser213Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ser312Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ser315Tyr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ser322Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Ter527Tyr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr148Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr203= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Thr203Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr255Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr361Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr423Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Thr517Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Trp137Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Trp22Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Trp425Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Tyr125His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Tyr372His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Tyr87His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val176Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val179Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val269Ile Single submitter ⚠
  • p.Val289Phe Single submitter Inborn genetic diseases ⚠
  • p.Val362Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val462Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • p.Val490Met Single submitter ⚠
  • p.Val503Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠
  • p.Val511Ile Single submitter Inborn genetic diseases ⚠
  • p.Val526Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ⚠