ClinVar Miner

Variants studied for 46,XY disorder of sex development

Included ClinVar conditions (43):
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
527 180 1761 2409 685 6 5350

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 48 28 497 1216 252 4 1934
WT1 47 14 370 321 44 1 778
AR 171 58 95 243 110 1 656
LOC107982234, WT1 16 2 420 205 13 0 642
SRD5A2 89 18 51 99 29 0 269
NR0B1 25 4 33 141 37 0 233
NR5A1 45 21 39 20 17 0 140
ZFPM2 4 1 48 53 34 0 134
MAP3K1 9 4 27 42 38 0 114
ELP4, PAX6 2 0 29 5 37 0 73
LOC126860469, ZFPM2 0 0 38 20 11 0 69
HSD17B3, SLC35D2-HSD17B3 14 9 23 1 7 0 52
CYP11A1 14 4 27 8 4 0 51
AR, LOC109504725 16 0 5 13 18 0 50
LOC129993918, MAP3K1 0 0 12 6 15 0 32
GATA4 3 3 13 3 3 0 24
PAX6 1 0 6 5 7 0 19
LOC126807392, MAP3K1 0 0 6 3 6 0 15
ATRX, LOC130068458 0 0 3 4 1 0 7
HSD17B3 3 3 0 0 0 0 6
DHH 5 0 0 0 0 0 5
LOC106014249, PAX6 0 0 4 0 1 0 5
HHAT 2 0 1 1 0 0 4
CYP11A1, LOC108964933 0 0 2 0 0 0 2
DSE, LOC129997035, TSPYL1 1 1 0 0 0 0 2
DSE, TSPYL1 1 1 1 0 0 0 2
LOC106707172, LOC107982234, LOC130005479, WT1 2 0 0 0 0 0 2
SOX8 0 0 2 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ADAMTS16 0 1 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
CDC45 0 0 1 0 0 0 1
CHD7 0 0 1 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMRT1 0 1 0 0 0 0 1
FGFR3 0 1 0 0 0 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1
GLI2 0 0 0 0 1 0 1
INSR 0 1 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 1
MAMLD1 1 0 0 0 0 0 1
NR2F2 0 1 0 0 0 0 1
OTX2 0 1 0 0 0 0 1
PKD1 0 0 1 0 0 0 1
POR 0 0 1 0 0 0 1
PROP1 1 0 0 0 0 0 1
SOS1 0 1 0 0 0 0 1
SOX9 1 0 0 0 0 0 1
SRCAP 0 0 1 0 0 0 1
SRD5A2, XDH 0 0 1 0 0 0 1
SRY 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 292 56 1399 2316 577 0 4640
Illumina Laboratory Services, Illumina 3 0 168 29 105 0 305
Natera, Inc. 1 0 98 55 13 0 167
OMIM 143 0 0 0 0 0 143
Fulgent Genetics, Fulgent Genetics 20 4 69 39 4 0 136
Baylor Genetics 8 4 68 0 0 0 80
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 60 0 11 0 0 0 71
Clinical Biochemistry Laboratory, Health Services Laboratory 21 11 0 1 0 0 33
Genome-Nilou Lab 0 0 4 0 25 0 29
Mendelics 4 4 10 4 5 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 4 5 1 1 0 26
3billion 7 8 11 0 0 0 26
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 12 5 1 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 4 4 3 2 0 17
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 6 0 0 0 0 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 7 3 1 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 6 0 0 0 0 10
Revvity Omics, Revvity 4 4 2 0 0 0 10
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 6 1 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 8 1 0 0 10
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 3 7 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 6 0 0 0 8
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 7
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 6 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 6 0 6
New York Genome Center 0 0 6 0 0 0 6
Human Developmental Genetics, Institut Pasteur 5 1 0 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 3 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 1 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 2 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 4 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 1 0 0 0 4
Department of Medical Genetics, Hue University of Medicine and Pharmacy 4 0 0 0 0 0 4
Laan Lab, Human Genetics Research Group, University of Tartu 2 2 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 0 0 0 3
GeneReviews 0 0 0 0 2 1 3
Human Genetics Disease in Children – Taif University, Taif University 1 0 0 0 2 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Reproductive and Stem Cell Engineering, Central South University 3 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine 2 0 0 0 0 0 2
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 1 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Cytogenetics & Genomics Research Unit, University of Calcutta 0 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Family Health Institute, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Department of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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