ClinVar Miner

Variants studied for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
348 147 812 1288 134 24 2617

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYBB 128 32 136 293 53 3 608
NCF2 56 28 180 304 26 14 574
CYBA 56 27 136 235 16 2 444
GSS 35 28 77 210 8 0 340
NCF4 18 10 148 148 19 3 340
CEBPE 9 1 94 81 8 0 192
CYBB, LOC130068093 7 1 3 12 1 0 23
GPX1 0 0 18 0 1 0 19
LOC106029312, NCF1 9 4 5 1 0 0 17
SMARCD2 5 4 1 1 0 0 11
LOC106694316, MPO 6 5 1 0 0 1 10
MPO 3 2 4 2 0 0 8
LOC106694315, MPO 1 2 1 0 0 0 4
CYBA, MVD 2 0 0 0 1 0 3
CYBB, XK 3 0 0 0 0 0 3
CYBC1 2 0 1 0 0 0 3
LOC129932084, NCF2 0 0 1 1 1 0 3
LPO, MPO 2 2 1 0 0 1 3
ACBD6, AXDND1, CACNA1E, CEP350, DHX9, FAM163A, GLUL, IER5, KIAA1614, LAMC1, LAMC2, LHX4, MR1, NCF2, NMNAT2, NPHS2, NPL, QSOX1, RGS16, RGS8, RGSL1, RNASEL, SHCBP1L, SMG7, STX6, TDRD5, TEDDM1, TOR1AIP1, TOR1AIP2, XPR1, ZNF648 0 0 1 0 0 0 1
ACIN1, ADCY4, AJUBA, AP1G2, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CHMP4A, CIDEB, CMA1, CMTM5, CPNE6, CTSG, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, EFS, EMC9, FITM1, GMPR2, GZMB, GZMH, HAUS4, HOMEZ, IL25, IPO4, IRF9, JPH4, KHNYN, LRP10, LTB4R, LTB4R2, MDP1, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NEDD8, NEDD8-MDP1, NFATC4, NGDN, NOP9, NRL, NYNRIN, PABPN1, PCK2, PPP1R3E, PRMT5, PSMB11, PSMB5, PSME1, PSME2, RABGGTA, RBM23, REC8, REM2, RIPK3, RNF212B, RNF31, SDR39U1, SLC22A17, SLC7A7, SLC7A8, TGM1, THTPA, TINF2, TM9SF1, TSSK4, ZFHX2 0 0 1 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, FANCA, GALNS, GAS8, IL17C, JPH3, KLHDC4, LOC101927817, MC1R, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SLC7A5, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZC3H18, ZFPM1, ZNF276, ZNF469, ZNF778 0 0 1 0 0 0 1
ACSF3, APRT, CBFA2T3, CDT1, CTU2, CYBA, GALNS, MVD, PABPN1L, PIEZO1, RNF166, SNAI3, TRAPPC2L 1 0 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, C20orf173, CBFA2T2, CDK5RAP1, CEP250, CHMP4B, CPNE1, DNMT3B, DYNLRB1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ERGIC3, FAM83C, GDF5, GGT7, GSS, ITCH, MAP1LC3A, MAPRE1, MIR499A, MMP24, MYH7B, NCOA6, NECAB3, NFS1, PIGU, PROCR, PXMP4, RALY, RBM12, SNTA1, SPAG4, SUN5, TP53INP2, TRPC4AP, UQCC1, ZNF341 1 0 0 0 0 0 1
BCL2L2, BCL2L2-PABPN1, CEBPE, CMTM5, EFS, HOMEZ, IL25, MIR208A, MIR208B, MYH6, MYH7, PABPN1, PPP1R3E, RNF212B, SLC22A17, SLC7A8 1 0 0 0 0 0 1
CIMIP4, CSF2RB, NCF4, TST 0 0 1 0 0 0 1
CYBA, LOC130059739, MVD 0 0 1 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 1 0 0 0 0 0 1
LOC130061409, SMARCD2 1 0 0 0 0 0 1
NCF1 0 1 0 0 0 0 1
RNF157 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 255 57 670 1257 120 0 2359
Natera, Inc. 8 2 75 30 11 0 126
Illumina Laboratory Services, Illumina 1 0 60 11 16 0 88
OMIM 82 0 0 0 0 0 82
Fulgent Genetics, Fulgent Genetics 17 40 14 8 1 0 80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 21 1 2 1 0 62
Revvity Omics, Revvity 6 7 24 0 0 0 37
Department of Pathology and Laboratory Medicine, Sinai Health System 4 6 11 0 2 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 7 6 0 0 0 21
Genome-Nilou Lab 1 0 4 0 16 0 21
UniProtKB/Swiss-Prot 0 0 0 0 0 14 14
Mendelics 1 2 2 2 2 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 6 1 0 0 0 9
Baylor Genetics 3 1 3 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 0 0 7
GeneReviews 1 0 0 0 0 5 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 0 0 0 0 5
3billion 2 0 2 1 0 0 5
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 4 0 0 0 0 5
Reproductive Health Research and Development, BGI Genomics 2 0 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Hauner Childrens Hospital, Department of Pediatrics, Dr. von Hauner Children's Hospital; Ludwig Maximilians University 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 0 0 0 0 0 3
Blood Cell Research, Sanquin 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 1 0 0 2
Koker Lab, University of Erciyes Medical School 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Counsyl 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 0 1 0 0 0 0 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 0 0 0 0 0 1
Laboratorio de Genomica, Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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