ClinVar Miner

Variants studied for 46,XY disorder of sex development

Included ClinVar conditions (60):
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 risk factor not provided total
2244 513 7170 2463 625 1 10 12814

Gene and significance breakdown #

Total genes and gene combinations: 67
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 515 57 2145 712 52 0 0 3481
MSH2 454 95 1438 417 50 0 1 2454
PMS2 273 50 1217 402 56 0 0 1997
MLH1 370 94 935 319 65 0 0 1783
ATRX 35 11 223 195 83 0 1 529
WT1 33 10 209 118 35 0 0 375
DHCR7 77 97 153 100 29 0 2 372
LOC107982234, WT1 7 2 232 75 12 0 0 313
AR 111 15 43 6 11 0 1 184
POR 8 3 110 12 17 0 0 137
EPCAM 20 4 56 11 17 0 0 108
SRD5A2 41 8 42 4 16 0 0 106
STAR 15 21 57 6 3 0 0 94
ZFPM2 3 0 35 23 27 0 0 85
LHCGR, STON1-GTF2A1L 13 4 37 12 13 0 0 79
ELP4, PAX6 2 0 29 5 37 0 0 73
SOX9 21 9 21 9 8 0 0 62
MAP3K1 6 4 11 10 27 0 0 58
HSD3B2 11 1 30 9 10 0 0 52
NR5A1 24 9 11 2 4 0 0 48
CYP17A1 6 2 33 0 2 0 3 43
CYP11A1 10 2 22 6 4 0 0 40
HSD17B3 11 1 17 1 7 0 0 37
SRY 27 1 4 1 1 0 0 34
ARX 24 2 2 0 0 0 0 28
AR, LOC109504725 13 0 1 1 8 0 0 23
DHH 10 2 4 1 2 0 0 19
EPCAM, MSH2 14 0 4 0 0 0 0 18
PAX6 1 0 5 4 8 0 0 18
EPCAM, MIR559, MSH2 14 0 3 0 0 0 0 17
NR0B1 10 0 4 0 3 0 0 17
EPM2AIP1, MLH1 11 0 3 0 0 0 0 14
LHB 6 0 1 0 4 0 0 11
EPCAM, MIR559 7 0 3 0 0 0 0 10
LOC108021846, SOX9 3 2 2 0 2 0 0 9
ARX, LOC109610631 6 1 1 0 0 0 0 8
GATA4 3 0 2 0 3 0 0 8
AIMP2, PMS2 5 0 2 0 0 0 0 7
AKR1C2 4 0 0 0 1 0 0 5
DHX37 5 0 0 0 0 0 0 5
CYP17A1, LOC110408762 0 0 3 0 1 0 0 4
LOC106014249, PAX6 0 0 4 0 0 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 4
AMH 0 0 0 0 3 0 0 3
AMHR2 1 1 0 0 1 0 0 3
CBX2 2 0 1 0 0 0 2 3
HHAT 2 0 1 0 0 0 0 3
POR, TMEM120A 0 0 3 0 0 0 0 3
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 1 1 0 0 2
DMRT1 0 1 1 0 0 0 0 2
DSE, TSPYL1 1 2 0 0 0 0 0 2
FBXO11, KCNK12, MSH2, MSH2-OT1, MSH6 1 0 1 0 0 0 0 2
FBXO11, MSH6 0 0 2 0 0 0 0 2
LDLR 0 0 0 0 2 0 0 2
LHCGR 2 0 0 0 0 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 1
AMH, MIR4321 1 0 0 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 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
EPCAM, KCNK12, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 0 1
FRS3, MDFI, PGC, TFEB 0 1 0 0 0 0 0 1
HSD3B2, LOC109029530 0 0 1 0 0 0 0 1
TSPYL1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1879 348 6505 2363 436 0 0 11529
Illumina Clinical Services Laboratory,Illumina 9 5 509 73 152 0 0 718
OMIM 261 0 0 0 0 1 0 262
Natera, Inc. 8 4 83 34 26 0 0 155
Counsyl 7 77 47 0 0 0 0 131
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 64 0 12 0 0 0 0 76
Baylor Genetics 40 16 16 0 0 0 0 72
Fulgent Genetics,Fulgent Genetics 19 3 16 0 0 0 0 38
Genetic Services Laboratory, University of Chicago 26 8 0 0 0 0 0 34
Integrated Genetics/Laboratory Corporation of America 23 10 0 0 0 0 0 33
Mendelics 3 4 11 4 7 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 2 2 13 0 0 22
GeneReviews 17 0 0 0 4 0 0 21
Myriad Women's Health, Inc. 7 9 0 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 13 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 5 2 2 3 2 0 0 14
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 0 14
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 8 2 0 0 0 0 13
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 10 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 10 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 6 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 4 0 1 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 8 0 1 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 9 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 5 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 5 0 0 0 0 8
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Institute of Human Genetics, Klinikum rechts der Isar 4 2 0 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 1 0 0 0 0 0 4
Krakow/Cohn Lab,University of California, Los Angeles 4 0 0 0 0 0 0 4
Department of Medical Genetics,Hue University of Medicine and Pharmacy 4 0 0 0 0 0 0 4
Pediatric Endocrinology Clinic,Ege University School of Medicine 2 2 0 0 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 0 1 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 0 3
Human Genetics Disease in Children – Taif University,Taif University 1 0 0 0 2 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 2 1 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1 0 0 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 2 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
Institute of Molecular Biology and Genetics,National Academy of Sciences of Ukraine 2 0 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 0 2
Human Developmental Genetics,Institut Pasteur 2 0 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 0 1
Prenatal Diagnosis Centre,Shenzhen Maternity and Child Healthcare Hospital 0 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 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 0 1 0 0 0 0 0 1
Kahle Lab,Yale University 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1
Cytogenetics & Genomics Research Unit,University of Calcutta 0 1 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 0 1
Precision Medicine Center,Zhengzhou University 1 0 0 0 0 0 0 1

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