ClinVar Miner

Variants studied for 46,XY disorder of sex development

Included ClinVar conditions (57):
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
1357 337 4062 378 121 1 8 6195

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 305 30 1281 75 0 0 0 1691
MSH2 209 45 888 51 0 0 1 1192
PMS2 159 36 741 48 2 0 0 985
MLH1 186 63 554 47 5 0 0 855
DHCR7 53 79 91 12 13 0 2 207
WT1 24 6 111 34 8 0 0 182
LOC107982234, WT1 4 1 107 18 4 0 0 132
AR 95 10 23 0 5 0 0 130
ATRX 24 7 83 14 3 0 1 130
SRD5A2 39 6 26 6 5 0 0 78
ELP4, PAX6 2 0 31 24 12 0 0 69
SOX9 19 3 24 13 9 0 0 68
LHCGR, STON1-GTF2A1L 14 3 7 17 10 0 0 51
STAR 15 20 6 0 0 0 0 38
ZFPM2 3 0 17 2 16 0 0 36
SRY 27 1 2 0 0 0 0 30
MAP3K1 6 4 7 1 11 0 0 29
NR5A1 18 8 4 0 1 0 0 29
ARX 22 2 2 0 0 0 0 26
CYP11A1 10 1 14 1 0 0 0 25
LOC108021846, SOX9 3 0 8 6 0 0 0 17
EPCAM, MIR559, MSH2 14 0 3 0 0 0 0 16
AR, LOC109504725 11 0 1 1 2 0 0 15
PAX6 1 0 5 8 1 0 0 15
POR 7 3 4 0 0 0 0 13
EPCAM 7 0 4 0 1 0 0 12
HSD17B3 11 1 0 0 0 0 0 12
HSD3B2 10 1 0 0 0 0 0 11
LHB 6 0 1 0 4 0 0 11
EPCAM, MIR559 7 0 3 0 0 0 0 10
EPM2AIP1, MLH1 9 0 1 0 0 0 0 10
CYP17A1 5 2 1 0 0 0 2 9
DHH 5 2 2 0 0 0 0 9
NR0B1 7 0 1 0 0 0 0 8
ARX, LOC109610631 6 1 0 0 0 0 0 7
GATA4 2 0 1 0 3 0 0 6
AKR1C2 4 0 0 0 1 0 0 5
LOC106014249, PAX6 0 0 4 0 0 0 0 4
AMH 0 0 0 0 3 0 0 3
CBX2 2 0 1 0 0 0 2 3
EPCAM, MSH2 2 0 1 0 0 0 0 3
LHCGR 3 0 0 0 0 0 0 3
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 0 1 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
AMHR2 0 0 0 0 1 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
DMRT1 0 1 0 0 0 0 0 1
DSE, TSPYL1 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
TSPYL1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1000 198 3770 261 28 0 0 5255
Illumina Clinical Services Laboratory,Illumina 8 4 203 110 47 0 0 372
OMIM 251 0 0 0 0 1 0 252
Counsyl 14 82 47 0 0 0 0 143
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 64 0 12 0 0 0 0 76
Baylor Genetics 34 15 1 0 0 0 0 50
Fulgent Genetics,Fulgent Genetics 19 3 16 0 0 0 0 38
Genetic Services Laboratory, University of Chicago 24 10 0 0 0 0 0 34
Mendelics 3 4 11 4 7 0 0 29
GeneReviews 17 0 0 0 4 0 0 21
Integrated Genetics/Laboratory Corporation of America 12 4 0 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 13 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 11 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
Athena Diagnostics Inc 0 0 0 0 9 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 6 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 5 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 6 0 1 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 3 0 0 0 0 0 7
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 3 2 0 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Natera Inc 0 1 2 0 1 0 0 4
Krakow/Cohn Lab,University of California, Los Angeles 4 0 0 0 0 0 0 4
Center for Human Genetics, Inc 2 0 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 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
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 1 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
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 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 Human Genetics,University of Goettingen 0 0 1 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
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
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
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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

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