NCF4 — 435 ClinVar variants
All ClinVar germline NCF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
15 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 11 Conflicting · 38 Benign · 14 Benign/Likely benign · 167 Likely benign · 180 Uncertain significance
Full NCF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NCF4 p.Arg58Cys
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro137Ser
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser115Asn
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Thr216Met
Conflicting
Single submitter
NCF4-related disorder
-
NCF4 p.Val20Ile
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val95Met
Conflicting
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NCF4 p.Arg105Trp
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg155Gln
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg169His
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg202Gln
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg213Gln
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg57Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Arg58His Uncertain significance Multiple submitters
-
NCF4 p.Arg60His
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg72His
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg8Gln
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Asn25Ser
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ile226Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Leu189Pro
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Met113Val
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro120Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro17Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser136Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser159Asn
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Thr182Pro
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Thr36Ile
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val167Ile
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val224Met
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala102Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala256Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala83Asp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala83Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala9Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg153Cys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg153His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg169Cys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Arg280Ile Uncertain significance Single submitter
-
NCF4 p.Asn110Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Asn184His Uncertain significance Single submitter
- NCF4 p.Asp12Asn Uncertain significance Single submitter
-
NCF4 p.Asp168Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Asp180Ala
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Asp206His Uncertain significance Single submitter
-
NCF4 p.Asp235Asn
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Asp235Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Asp247Asn
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Asp260Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Glu10Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Glu141Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Glu14Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Glu188Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Glu246Lys Uncertain significance Single submitter
-
NCF4 p.Glu30Lys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Gly214Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ile101Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Ile255Val Uncertain significance Single submitter
-
NCF4 p.Ile29Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ile55Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Leu189Val Uncertain significance Single submitter
-
NCF4 p.Leu199Pro
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Leu86Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Lys228Gln Uncertain significance Single submitter
-
NCF4 p.Lys32Glu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Lys92Asn Uncertain significance Single submitter
-
NCF4 p.Met104Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Met170Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro162Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro220Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro87Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Ser115Cys Uncertain significance Single submitter
- NCF4 p.Ser166Ile Uncertain significance Single submitter
-
NCF4 p.Ser185Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser23Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser37Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ser77Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Ser79Arg Uncertain significance Single submitter
- NCF4 p.Ser80Gly Uncertain significance Single submitter
-
NCF4 p.Thr182Ala
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Thr182Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Thr248Ala Uncertain significance Single submitter
-
NCF4 p.Thr248Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Trp207Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Trp239Leu Uncertain significance Single submitter
- NCF4 p.Tyr59His Uncertain significance Single submitter
-
NCF4 p.Val121Ile
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val196Met
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val303Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val45Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala304Val
Uncertain significance
No assertion criteria
NCF4-related disorder
Predictors split 29
The independent predictors disagree with each other — read with care.
-
NCF4 p.Arg151Cys
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg155Gly
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg202Trp
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg57His
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Phe219Leu
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Ala193Gly
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg148Cys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg149Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg149Trp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg174Ser
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Arg241Cys Uncertain significance Single submitter
-
NCF4 p.Arg241His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Arg8Trp
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Glu176Gln
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Gly34Val
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Gly49Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Gly74Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Ile106Thr Uncertain significance Single submitter
-
NCF4 p.Ile218Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Lys98Glu Uncertain significance Single submitter
-
NCF4 p.Phe133Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro173Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Pro265Ser
Likely benign
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- NCF4 p.Ser136Pro Uncertain significance Single submitter
- NCF4 p.Thr154Ser Uncertain significance Single submitter
-
NCF4 p.Thr36Pro
Likely benign
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Trp207Cys
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Tyr94His
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
-
NCF4 p.Val42Leu
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
All NCF4 variants
Pathogenic 15
- c.759-40C>T Multiple submitters chronic granulomatous disease
- p.Arg105Gln Multiple submitters NCF4-related disorder
- c.758+28_758+29insA Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+36_758+81del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-19C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-24T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg153fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gln5Ter Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu86fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Lys52fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val123fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val257= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+2T>G No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Lys48fs No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Trp239Ter No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Pathogenic/Likely pathogenic 2
- c.118-1G>A Multiple submitters NCF4-related disorder
- p.Lys205fs Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Likely pathogenic 8
- c.270_271+16del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+2T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-1G>A Single submitter chronic granulomatous disease
- c.470+2T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.471-1G>A Single submitter chronic granulomatous disease
- p.Glu281fs Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Met1Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Met1Leu Single submitter NCF4-related disorder
Conflicting classifications of pathogenicity 11
- c.33-6G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-2A>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+50C>T Single submitter chronic granulomatous disease
- c.759-49C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala256= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg58Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro137Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser115Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Thr216Met Single submitter NCF4-related disorder ⚠
- p.Val20Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val95Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
Benign 38
- c.117+67_117+87del Multiple submitters
- c.118-148A>G Multiple submitters
- c.342+114G>A Multiple submitters
- c.343-135A>G Multiple submitters
- c.470+20G>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-112C>T Multiple submitters
- c.627+34A>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.627+88A>G Multiple submitters
- c.-37G>A Multiple submitters
- p.Ala21= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Thr337= Multiple submitters
- c.118-206dup Single submitter
- c.118-284A>G Single submitter
- c.272-249_272-248insTGTGTGTGCG Single submitter
- c.272-281GT[17] Single submitter
- c.272-281GT[18] Single submitter
- c.272-281GT[19] Single submitter
- c.272-281GT[20] Single submitter
- c.272-281GT[21] Single submitter
- c.32+1258T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-166C>T Single submitter
- c.342+202C>T Single submitter
- c.343-337G>A Single submitter
- c.343-339G>A Single submitter
- c.343-73C>T Single submitter
- c.470+297G>A Single submitter
- c.471-17del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.471-267C>T Single submitter
- c.528+172G>A Single submitter
- c.528+192C>A Single submitter
- c.528+208G>A Single submitter
- c.529-290A>G Single submitter
- c.627+209_627+256del Single submitter
- c.628-264C>A Single submitter
- c.824+236G>T Single submitter
- c.824+50G>A Single submitter
- c.825-214A>G Single submitter
- p.Leu86= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Benign/Likely benign 14
- c.271+7G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.343-4A>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+16A>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+17C>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+18G>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.628-14C>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+57T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp235= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Phe320= Multiple submitters
- p.Ser299= Multiple submitters
- p.Ser80= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Thr85Asn Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Tyr245= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val160Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Likely benign 167
- c.117+14C>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.117+19C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-8C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.271+17G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.271+6C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-14_272-13del Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+20C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+9C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.343-13C>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.343-15G>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.343-8C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.471-9T>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+11C>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-12G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+38C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.-95C>T Multiple submitters
- p.Arg130= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp128= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp302= Multiple submitters
- p.Asp76= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gly74= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile26= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile43= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro152= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro17= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.117+10A>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.117+18T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.117+20C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-10T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-11G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-16C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-16C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-17del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-20A>T Single submitter
- c.118-23_118-13del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-6_118-4del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.118-72T>C Single submitter
- c.271+16C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.271+220C>G Single submitter
- c.271+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-12G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-17T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-19G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-19G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-281GT[22] Single submitter
- c.272-7_272-6del Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.272-8C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+10G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+13G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.32+9C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-14C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-6G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.342+12C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.342+16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.342+29G>A Single submitter
- c.342+8T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.470+13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.470+15C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.470+17T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.470+7G>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.471-16T>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+10G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+13C>T Single submitter
- c.528+15_528+16inv Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+17C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+18G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+203C>G Single submitter
- c.528+7C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.528+9C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-13C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-15C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-18C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.529-54T>C Single submitter
- c.627+15G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.627+17G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.627+184G>A Single submitter
- c.627+22_627+33dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.627+8C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.627+9A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+106C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+118G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+16G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+34C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+46C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+57_758+58inv Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+58G>A Single submitter
- c.758+64C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+67A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+68T>C Single submitter
- c.758+70A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+79T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+82G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+85C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-101T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-20C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-20C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-25T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-38G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-65T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-71T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-80C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-83T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-8C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.824+20G>C Single submitter
- c.825-6A>G Single submitter
- p.Ala102= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala108= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala256Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala83= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala9= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg148= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg153= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg155= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg169= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg275Ser Single submitter
- p.Arg308Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg57= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg60= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg8= Single submitter
- p.Asn110= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp19= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp195= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp234= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Asp254Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gln163= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gln6= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Glu10= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Glu30= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Glu44= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gly183= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gly34= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile101= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile22= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile249= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile29= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu116= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu199= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu266= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu267= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu82= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Leu89= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Lys68= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Phe181= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Phe223= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Phe73= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro120= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro137= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro265Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser136= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser159= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser166= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser222= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser23= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser250= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser67= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Thr216= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Thr36Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Tyr94= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val121= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val123= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val143= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val224= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val42= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val93= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Val97= Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Uncertain significance 180
- c.758+24C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+32G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+39T>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+51G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+62C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+87T>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-1G>C Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-48C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-58C>G Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-58C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-6C>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-7C>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-96G>A Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-97C>T Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.824+5G>A Multiple submitters
- p.Arg105Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg130Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg148His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg149_Arg151del Multiple submitters NCF4-related disorder
- p.Arg151Cys Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg151His Multiple submitters
- p.Arg155Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg155Gly Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg169His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg202Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg202Trp Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg213Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg57His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg57Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg58His Multiple submitters ⚠
- p.Arg60Cys Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Arg60His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg72His Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg8Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asn25Ser Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp206Gly Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Glu258= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ile226Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Leu189Pro Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Met113Val Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Phe219Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro120Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro17Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro90= Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser136Leu Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser159Asn Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Thr182Pro Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Thr36Ile Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val167Ile Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val224Met Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- c.272-5_272-3del Single submitter
- c.32+3G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.33-3C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.342+4C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.470+5G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.628-3C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.628-3C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+101G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+110G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+117A>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+121G>C Single submitter
- c.758+12G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+17G>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+23G>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+2T>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+33C>T Single submitter
- c.758+39T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+48T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+60C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+69C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+84C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.758+99_758+101delinsC Single submitter
- c.759-10A>C Single submitter
- c.759-121C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-22C>A Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-41C>G Single submitter
- c.759-43T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-67C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-6C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-7C>G Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-7C>T Single submitter
- c.759-84C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-88T>C Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-90G>A Single submitter
- c.759-91G>C Single submitter
- c.759-98A>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- c.759-9C>A Single submitter
- p.Ala102Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala111dup Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ala193Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala256Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala83Asp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala83Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala9Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg148Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg149Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg149Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg153Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg153His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg169Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg174Ser Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg241Cys Single submitter ⚠
- p.Arg241His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Arg280Ile Single submitter ⚠
- p.Arg8Trp Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asn110Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asn184His Single submitter ⚠
- p.Asp12Asn Single submitter ⚠
- p.Asp168Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp180Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp206His Single submitter ⚠
- p.Asp235Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp235Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp247Asn Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Asp260Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu100del Single submitter
- p.Glu103Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Glu10Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu141Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu14Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu176Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu188Gln Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu30Lys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Gly214Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Gly34Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Gly34Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Gly49Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Gly74Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ile101Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ile106Thr Single submitter ⚠
- p.Ile218Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ile255Val Single submitter ⚠
- p.Ile29Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ile55Leu Single submitter
- p.Ile55Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Leu189Val Single submitter ⚠
- p.Leu199Pro Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Leu86Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Lys228Gln Single submitter ⚠
- p.Lys253= Single submitter
- p.Lys32Glu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Lys92Asn Single submitter ⚠
- p.Lys98Glu Single submitter ⚠
- p.Met104Thr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Met170Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Phe133Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Phe41Tyr Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Phe73Val Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Pro162Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro173Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro220Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Pro87Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser115Cys Single submitter ⚠
- p.Ser136Pro Single submitter ⚠
- p.Ser166Ile Single submitter ⚠
- p.Ser185Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser222Phe Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- p.Ser23Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser37Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser77Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ser79Arg Single submitter ⚠
- p.Ser80Gly Single submitter ⚠
- p.Thr154Ser Single submitter ⚠
- p.Thr182Ala Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Thr182Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr248Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Trp207Arg Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Trp207Cys Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Trp239Leu Single submitter ⚠
- p.Tyr243Ter Single submitter
- p.Tyr59His Single submitter ⚠
- p.Tyr94His Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val121Ile Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val196Met Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val303Gly Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val42Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Val45Leu Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ⚠
- p.Ala304Val No assertion criteria NCF4-related disorder ⚠