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
1095 272 3131 1045 361 1 8 5853

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 234 20 972 327 44 0 0 1597
MSH2 148 37 669 190 39 0 1 1084
PMS2 120 31 586 159 40 0 0 936
MLH1 144 49 416 158 58 0 0 825
DHCR7 40 68 87 14 15 0 2 194
WT1 23 4 87 59 13 0 0 183
ATRX 21 3 53 28 33 0 1 136
AR 87 8 14 2 7 0 0 117
LOC107982234, WT1 3 0 83 27 10 0 0 115
SRD5A2 39 5 26 6 7 0 0 79
ELP4, PAX6 2 0 31 24 12 0 0 69
SOX9 16 3 23 13 8 0 0 63
LHCGR, STON1-GTF2A1L 14 1 7 17 10 0 0 49
STAR 15 20 6 0 0 0 0 38
ZFPM2 3 0 12 4 18 0 0 36
MAP3K1 6 3 5 1 15 0 0 30
SRY 26 1 1 0 0 0 0 28
ARX 21 2 2 0 0 0 0 25
NR5A1 18 5 2 0 2 0 0 25
CYP11A1 9 1 13 1 0 0 0 24
AR, LOC109504725 10 0 1 1 10 0 0 22
LOC108021846, SOX9 3 0 8 6 1 0 0 18
EPCAM 4 0 1 0 11 0 0 16
PAX6 1 0 5 8 1 0 0 15
POR 7 3 4 0 0 0 0 13
HSD17B3 11 1 0 0 0 0 0 12
HSD3B2 10 1 0 0 0 0 0 11
LHB 6 0 0 0 4 0 0 10
CYP17A1 5 1 1 0 0 0 2 9
DHH 5 2 2 0 0 0 0 9
EPCAM, MIR559, MSH2 5 0 3 0 0 0 0 8
ARX, LOC109610631 6 1 0 0 0 0 0 7
EPM2AIP1, MLH1 7 0 0 0 0 0 0 7
NR0B1 6 0 1 0 0 0 0 7
EPCAM, MIR559 4 0 1 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
LOC106014249, PAX6 0 0 4 0 0 0 0 4
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
AMH 0 0 0 0 2 0 0 2
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
GATA4 1 0 1 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
FRS3, MDFI, PGC, TFEB 0 1 0 0 0 0 0 1
LOC106707172, LOC107982234, WT1 1 0 0 0 0 0 0 1
TSPYL1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 751 149 2852 933 291 0 0 4976
Illumina Clinical Services Laboratory,Illumina 8 4 203 110 47 0 0 372
OMIM 251 0 0 0 0 1 0 252
Counsyl 14 81 47 0 0 0 0 142
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 64 0 12 0 0 0 0 76
Fulgent Genetics 19 3 16 0 0 0 0 38
Genetic Services Laboratory, University of Chicago 24 10 0 0 0 0 0 34
GeneReviews 16 0 0 0 4 0 0 20
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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 0 0 1 0 0 10
Athena Diagnostics Inc 0 0 0 0 9 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 0 8
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 2 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 3 0 0 0 0 6
Baylor Miraca Genetics Laboratories, 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
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 1 0 0 0 4
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
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
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 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
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
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,Institute of Human Genetics 0 1 0 0 0 0 0 1
Medical Molecular Genetics,National Research Centre 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
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
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1

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