Total 39 pathogenic variants reported for Chronic granulomatous disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) SNV
Germline		 Chr16:88646131 Pathogenic/Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Condition: not provided
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115450 rs_104894514

4 SubmittersRCV000002347RCV000059045RCV001731273
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) SNV
Germline		 Chr16:88643474 Pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 No Assertion Criteria Provided
 CA115452 rs_104894515

2 SubmittersRCV000002348RCV000208600
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) SNV
Germline		 Chr16:88651007 Pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115459 rs_104894511

4 SubmittersRCV000002352RCV001826407
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) SNV
Germline		 Chr16:88648103 Pathogenic/Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Condition: not provided
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115462 rs_28941476

6 SubmittersRCV000002353RCV001093039RCV001274006
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) SNV
Germline		 ChrX:37798956 Pathogenic Granulomatous disease, chronic, X-linked
Condition: not provided
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121247 rs_137854592

8 SubmittersRCV000011676RCV000523721RCV001826456
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) SNV
Germline		 ChrX:37798972 Pathogenic X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Condition: not provided
Chronic granulomatous disease		 No Assertion Criteria Provided
 CA128804 rs_151344498

3 SubmittersRCV000022861RCV000059275RCV000208611
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) SNV
Germline		 ChrX:37795999 Pathogenic X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Condition: not provided
Chronic granulomatous disease		 No Assertion Criteria Provided
 CA128806 rs_151344497

3 SubmittersRCV000022862RCV000059260RCV000208608
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) SNV
Germline		 Chr22:36867434 Pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129011 rs_387906808

4 SubmittersRCV000023113RCV000208606
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) SNV
Germline		 Chr16:88646774 Pathogenic/Likely pathogenic Condition: not provided
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219176 rs_179363892

5 SubmittersRCV000059044RCV000687649RCV001271457
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) SNV
Germline		 Chr16:88643570 Pathogenic/Likely pathogenic Condition: not provided
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease
Polyglandular autoimmune syndrome, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219178 rs_179363894

3 SubmittersRCV000059046RCV003497833RCV004526610RCV004542731
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) SNV
Germline		 Chr1:183573189 Pathogenic/Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA145227 rs_137854508

3 SubmittersRCV000059369RCV004586536
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) SNV
Germline		 Chr7:74783529 Pathogenic/Likely pathogenic Condition: not provided
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4298223 rs_145360423

13 SubmittersRCV000489061RCV000763595RCV002298619
NM_000397.4(CYBB):c.483+1G>T SNV
Germline		 ChrX:37793811 Pathogenic Condition: not provided
Granulomatous disease, chronic, X-linked
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412975615 rs_1131691828

3 SubmittersRCV000493750RCV001293538RCV001274390
NM_000101.4(CYBA):c.384C>T (p.Gly128=) SNV
Germline		 Chr16:88643557 Conflicting classifications of pathogenicity Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Condition: not provided
Chronic granulomatous disease		 Criteria Provided
Conflicting Classifications
 rs_72547285

4 SubmittersRCV001241945RCV000734389RCV001825482
NM_000397.4(CYBB):c.969A>G (p.Gln323=) SNV
Germline		 ChrX:37803948 Conflicting classifications of pathogenicity Granulomatous disease, chronic, X-linked
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Granulomatous disease, chronic, X-linked
Chronic granulomatous disease		 Criteria Provided
Conflicting Classifications
 rs_144764222

3 SubmittersRCV000767950RCV000929976RCV001830664
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) SNV
Germline		 Chr16:88646781 Pathogenic Condition: not provided
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_779809359

3 SubmittersRCV000788440RCV001384756RCV001830682
NM_000101.4(CYBA):c.226G>A (p.Val76Met) SNV
Germline		 Chr16:88646816 Conflicting classifications of pathogenicity Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_149344911

4 SubmittersRCV001027779RCV001277895RCV004797886
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) SNV
Germline		 ChrX:37806486 Conflicting classifications of pathogenicity Granulomatous disease, chronic, X-linked
Chronic granulomatous disease
not specified
CYBB-related disorder
Granulomatous disease, chronic, X-linked
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_13306300

6 SubmittersRCV000907309RCV001832042RCV002307640RCV003413719RCV002502710RCV003438571
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) SNV
Germline		 ChrX:37809601 Conflicting classifications of pathogenicity Granulomatous disease, chronic, X-linked
Chronic granulomatous disease
not specified		 Criteria Provided
Conflicting Classifications
 rs_201356986

3 SubmittersRCV001063853RCV001274392RCV002222665
NM_000101.4(CYBA):c.204-2A>G SNV
Germline		 Chr16:88646840 Pathogenic Chronic granulomatous disease
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative		 Criteria Provided
Single Submitter
 rs_113932941

2 SubmittersRCV001828796RCV001225583
NM_000101.4(CYBA):c.287+2T>C SNV
Germline		 Chr16:88646753 Pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_747774702

3 SubmittersRCV001240485RCV001828951
NM_000397.4(CYBB):c.483+978G>A SNV
Germline		 ChrX:37794788 Conflicting classifications of pathogenicity Chronic granulomatous disease
Granulomatous disease, chronic, X-linked
not specified		 Criteria Provided
Conflicting Classifications
 rs_1031189017

3 SubmittersRCV001279972RCV001476432RCV002246271
NM_000397.4(CYBB):c.8A>C (p.Asn3Thr) SNV
Germline		 ChrX:37780085 Conflicting classifications of pathogenicity Granulomatous disease, chronic, X-linked
Chronic granulomatous disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_782014879

3 SubmittersRCV001322718RCV001830977RCV004978323
NM_000397.4(CYBB):c.698C>T (p.Ala233Val) SNV
Germline		 ChrX:37798978 Conflicting classifications of pathogenicity Granulomatous disease, chronic, X-linked
Chronic granulomatous disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_782174347

3 SubmittersRCV001316402RCV001835570RCV004978303
NM_000101.4(CYBA):c.128+2T>C SNV
Germline		 Chr16:88648043 Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Chronic granulomatous disease		 Criteria Provided
Single Submitter
 rs_1191361764

2 SubmittersRCV001377848RCV001826131
NM_000631.5(NCF4):c.33-1G>A SNV
Germline		 Chr22:36864044 Likely pathogenic Chronic granulomatous disease Criteria Provided
Single Submitter
 rs_2145702588

1 SubmittersRCV001553596
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) SNV
Germline		 Chr1:183564005 Conflicting classifications of pathogenicity Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Chronic granulomatous disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1459123494

3 SubmittersRCV001985518RCV003226513RCV004793658
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter) SNV
Germline		 Chr1:183574488 Pathogenic/Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003603153RCV003226674
NM_000631.5(NCF4):c.471-1G>A SNV
Germline		 Chr22:36871651 Likely pathogenic Chronic granulomatous disease Criteria Provided
Single Submitter

1 SubmittersRCV003231038
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter) SNV
Germline		 Chr1:183563513 Pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003497992RCV003331828
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp) SNV
Germline		 Chr1:183563305 Pathogenic/Likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Chronic granulomatous disease		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003603767RCV004701817