ClinVar Miner

Variants studied for functional neutrophil defect

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
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Gene type:
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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
196 65 1014 1131 160 10 2459

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ITGB2 62 22 333 364 65 7 792
FERMT3 16 7 197 264 36 1 512
CTSC 71 17 133 170 21 0 394
SLC35C1 8 4 158 116 18 0 289
CEBPE 9 1 94 81 8 0 192
RAC2 2 1 57 91 8 0 157
CTSC, LOC130006572 8 1 23 33 1 0 62
LOC130067355, RAC2 0 0 0 8 3 0 11
SMARCD2 5 4 1 1 0 0 11
LOC106694316, MPO 6 3 1 0 0 1 9
LOC130067357, RAC2 0 0 4 1 0 0 5
MPO 3 1 1 2 0 0 5
LOC130005625, SLC35C1 0 0 4 0 0 0 4
LOC106694315, MPO 1 2 0 0 0 0 3
LPO, MPO 2 2 1 0 0 1 3
ACP2, AGBL2, AMBRA1, ARFGAP2, ARHGAP1, ATG13, C1QTNF4, CELF1, CHRM4, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, F2, FAM180B, FNBP4, FREY1, HARBI1, KBTBD4, LARGE2, LRP4, MADD, MAPK8IP1, MDK, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, PACSIN3, PEX16, PHF21A, PSMC3, PTPMT1, RAPSN, SLC35C1, SLC39A13, SPI1, ZNF408 1 0 1 0 0 0 2
FERMT3, LOC130005912 0 0 2 0 0 0 2
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
AHNAK, ARL2, ASRGL1, ATG2A, ATL3, B3GAT3, BAD, BATF2, BEST1, BSCL2, CAPN1, CATSPERZ, CBLIF, CCDC86, CCDC88B, CD5, CD6, CDC42BPG, CDCA5, CHRM1, COX8A, CPSF7, CSKMT, CYB561A3, DAGLA, DDB1, DNAJC4, DTX4, EEF1G, EHD1, EML3, ESRRA, FADS1, FADS2, FADS3, FAM111A, FAU, FEN1, FERMT3, FKBP2, FLRT1, FTH1, GANAB, GNG3, GPHA2, GPR137, HNRNPUL2, INCENP, INTS5, KCNK4, LBHD1, LGALS12, LRRC10B, LRRN4CL, MACROD1, MAJIN, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MPEG1, MRPL16, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTA2, MYRF, NAA40, NAALADL1, NRXN2, NUDT22, NXF1, OOSP2, OR10V1, OR4D10, OR4D11, OR4D6, OR4D9, OR5A1, OR5A2, OR5AN1, OSBP, OTUB1, PATL1, PGA3, PGA4, PGA5, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, POLR2G, PPP1R14B, PPP2R5B, PRDX5, PRPF19, PTGDR2, PYGM, RAB3IL1, RASGRP2, RCOR2, ROM1, RPS6KA4, RTN3, SAC3D1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SDHAF2, SF1, SLC15A3, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SPDYC, SPINDOC, STIP1, STX3, STX5, SYT7, SYVN1, TAF6L, TCN1, TKFC, TM7SF2, TMEM109, TMEM132A, TMEM138, TMEM179B, TMEM216, TMEM223, TMEM258, TRMT112, TRPT1, TTC9C, TUT1, UBXN1, UQCC3, VEGFB, VPS37C, VPS51, VWCE, WDR74, ZBTB3, ZFPL1, ZFTA, ZNHIT2, ZP1 0 0 1 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
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 1
CTSC, GRM5, TYR 0 0 1 0 0 0 1
LOC130061409, SMARCD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 129 24 843 1099 128 0 2223
Illumina Laboratory Services, Illumina 2 1 175 24 50 0 252
OMIM 58 0 0 0 0 0 58
Fulgent Genetics, Fulgent Genetics 5 9 20 7 1 0 42
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 2 2 0 6 7 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 9 2 1 0 14
Baylor Genetics 2 1 9 0 0 0 12
Revvity Omics, Revvity 5 5 2 0 0 0 12
Genome-Nilou Lab 0 0 0 0 11 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 8 2 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 4 0 0 0 9
Mendelics 0 0 3 4 1 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 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
Reproductive Health Research and Development, BGI Genomics 1 0 2 0 0 0 3
Koker Lab, University of Erciyes Medical School 3 0 0 0 0 0 3
3billion, Medical Genetics 2 0 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Bicknell laboratory, University of Otago 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1 0 0 2
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 1 0 0 0 0 2
State Key Laboratory Of Oral Diseases, Sichuan University 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 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
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 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 0 0 1 0 0 0 1
Center for Medical Genetics, GenVams Trust 0 1 0 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Medical Genetics Research Center, Mashhad University of Medical Sciences 0 1 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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