ClinVar Miner

Variants studied for X-linked recessive disease

Included ClinVar conditions (16):
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
169 63 307 171 131 2 823

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
XIAP 54 10 142 69 91 0 355
MAOA 7 5 56 56 13 0 137
SH2D1A 37 8 44 31 21 0 135
CLCN5 7 21 33 8 1 1 70
GPR143 19 8 3 1 1 0 30
STS 9 5 4 2 0 0 20
CLCN5, LOC126863258 1 4 11 0 0 0 16
STAG2 5 1 3 4 1 0 14
MBTPS2 6 0 7 0 0 0 13
OPN1LW 4 0 2 0 2 0 8
PNPLA4, PUDP, STS, VCX 3 0 0 0 0 0 3
SREBF1 3 0 0 0 0 0 3
OPN1MW 2 0 0 0 0 0 2
PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 1 2
GJB2 1 0 0 0 0 0 1
GRIA3, SH2D1A, STAG2, THOC2, XIAP 1 0 0 0 0 0 1
GRIA3, THOC2, XIAP 0 0 1 0 0 0 1
LOC106029240, LOC106029241, LOC113875037, LOC121627957, LOC125446266, LOC126863197, LOC126863198, LOC130067908, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 1
LOC106029240, LOC113875037, LOC121627957, LOC125446266, LOC126863197, LOC126863198, LOC130067908, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX3A 1 0 0 0 0 0 1
LOC106029240, LOC113875037, LOC126863197, LOC130067908, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PUDP, STS, VCX3A 1 0 0 0 0 0 1
LOC106029241, LOC113875037, LOC121627957, LOC125446266, LOC126863197, LOC126863198, LOC130067908, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 0 1
LOC113875037, LOC125446266, LOC126863197, LOC126863198, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 1
LOC113875037, LOC126863197, LOC126863198, LOC130067908, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 1
LOC113875037, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PUDP, STS 1 0 0 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
MAOA, MAOB, NDP 1 0 0 0 0 0 1
MBTPS2, YY2 0 0 1 0 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3B 1 0 0 0 0 0 1
PUDP, STS 1 0 0 0 0 0 1
RPGR 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 9 179 148 65 0 463
Illumina Laboratory Services, Illumina 0 0 52 4 67 0 123
Fulgent Genetics, Fulgent Genetics 7 26 45 14 1 0 93
OMIM 56 0 0 0 0 0 56
Baylor Genetics 6 2 5 0 0 0 13
Genome-Nilou Lab 0 0 0 1 9 0 10
Mendelics 5 0 0 1 1 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 1 0 6
3billion, Medical Genetics 1 2 1 2 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Human Molecular Genetics Lab, Quaid-I-Azam University 4 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Revvity Omics, Revvity 0 1 2 0 0 0 3
Clinical Genetics Laboratory of Dermatology, Peking University First Hospital 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
New York Genome Center 0 2 1 0 0 0 3
Aleixo Muise Laboratory, Hospital For Sick Children 3 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Sydney Children's Hospital, SCHN 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Uitto Lab, Thomas Jefferson University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Department of Neurology, Hunan Children's Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Laboratory of Cytogenetics, Molecular Genetics and Biology of Human Reproduction, University of Sousse 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 0 1 0 0 0 1

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