ClinVar Miner

Variants studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (97):
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
1230 526 3513 1042 572 9 6496

Gene and significance breakdown #

Total genes and gene combinations: 123
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD7 260 63 415 165 70 1 940
BBS10 73 75 160 76 17 0 351
BBS2 55 62 158 102 23 0 350
BBS9 34 5 183 57 40 0 297
BBS12 55 31 134 69 29 0 275
ASTN2, TRIM32 17 2 190 47 9 0 256
BBS1, ZDHHC24 42 32 110 56 14 1 229
WDPCP 9 4 158 46 15 0 215
POLR3A 30 4 111 24 40 0 206
BBS4 32 15 103 34 28 0 198
RAB3GAP2 3 4 132 41 21 1 192
BBS7 27 13 110 18 15 0 174
SDCCAG8 15 9 111 30 11 0 167
MKKS 27 6 100 22 18 0 163
BTK 59 13 63 17 13 0 159
CEP290 12 4 118 6 19 0 158
BBS1 40 30 53 36 4 1 145
SEMA3E 1 0 92 36 13 0 142
TTC8 7 8 99 25 12 0 140
DCAF17 11 3 79 15 30 0 135
GNRHR 19 2 73 8 17 0 118
MKS1 5 23 69 8 8 0 106
LOC101929710, PCSK1 6 2 78 6 4 0 96
LHX3 9 0 71 10 5 0 91
BBS5 21 8 34 11 10 0 84
NR0B1 71 5 5 0 3 0 81
PROP1 13 24 38 8 9 0 81
LEP 2 1 62 6 3 0 74
LEPR 4 0 57 6 7 0 74
GHRHR 10 5 41 4 9 0 69
ARL6 14 4 33 12 4 0 66
POLR3B 11 6 32 8 8 0 63
MAGEL2 18 9 17 1 1 1 46
ACBD6, LHX4 5 0 15 7 11 1 39
POU1F1 17 5 16 0 1 1 39
HBB, LOC106099062, LOC107133510 30 1 7 0 2 1 38
POLR1C 31 1 5 0 0 0 34
HESX1 10 1 19 5 2 0 32
OTX2 1 0 23 3 5 0 32
GH-LCR, GH1 15 2 7 3 3 0 29
LOC100287944, POLR3B 0 1 23 0 5 0 29
SMCHD1 20 0 4 0 0 0 24
LHX4 2 0 12 5 4 0 22
HBB, LOC107133510, LOC110006319 11 2 6 0 0 0 18
PNPLA6 10 2 4 0 0 0 16
DCAF17, METTL8 2 0 13 1 0 0 15
AKT3, SDCCAG8 0 1 10 1 1 0 12
RNF216 8 1 2 0 0 0 11
GH1 9 0 0 0 0 0 9
C12orf29, CEP290 0 0 7 1 0 0 8
FGFR1 0 8 0 0 0 0 8
HERC2 1 0 6 0 0 0 7
TMEM67 3 2 2 0 0 0 7
LEPR, LEPROT 0 0 4 1 1 0 6
BBS4, HIGD2B 0 0 2 0 3 0 5
CFAP418 2 2 1 0 0 0 5
CHMP2B, POU1F1 0 0 0 0 5 0 5
LZTFL1 3 1 1 0 0 0 5
BBIP1 3 0 1 0 0 0 4
HS6ST1 0 1 1 3 0 0 4
IFT74 2 2 1 0 0 1 4
RBM28 2 1 1 0 0 0 4
SIM1 0 0 4 0 0 0 4
​intergenic 2 0 1 0 0 0 3
DMXL2 1 0 2 0 0 0 3
IFT172 2 1 0 0 0 0 3
NDN 0 0 3 0 0 0 3
ALMS1 0 2 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 2
BBS9, RP9 0 0 2 0 0 0 2
CCDC141 0 0 2 0 0 0 2
CRIPT 2 0 0 0 0 0 2
IFT27 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
POLR3A, RPS24 0 0 2 0 0 0 2
RALGAPB 0 2 0 0 0 0 2
RNPC3 2 0 0 0 0 0 2
SOX3 2 0 0 0 0 0 2
WDR11 0 0 2 0 0 0 2
WDR19 0 0 2 0 0 0 2
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
ANOS1 0 1 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
BRCA2 1 0 0 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DNA2 0 1 0 0 0 0 1
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP 0 0 1 0 0 0 1
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
EP300 0 1 0 0 0 0 1
GLI1 0 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HCN1 1 0 0 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
KDM6A 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 1
LOC108281134, SOX3 0 0 1 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 1
NPHP1 1 0 0 0 0 0 1
PDE11A 0 0 0 1 0 0 1
POC1A 0 1 0 0 0 0 1
PROKR2 0 1 0 0 0 0 1
PUF60 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 1
SYNE2 0 0 1 0 0 0 1
TAC3 0 1 0 0 0 0 1
TACR3 0 1 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1
TRIM32 0 0 1 0 0 0 1
XRCC4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 513 93 1662 794 263 0 3325
Illumina Clinical Services Laboratory,Illumina 10 4 1606 197 348 0 2165
Counsyl 25 194 111 9 1 0 340
OMIM 308 0 0 0 0 0 308
Natera, Inc. 25 3 101 33 52 0 214
Baylor Genetics 78 9 89 0 0 0 176
Fulgent Genetics,Fulgent Genetics 40 8 46 1 0 0 95
GeneReviews 47 0 0 0 16 0 63
Genetic Services Laboratory, University of Chicago 41 7 13 0 0 0 61
Integrated Genetics/Laboratory Corporation of America 34 20 0 2 2 0 58
Centre for Mendelian Genomics,University Medical Centre Ljubljana 15 6 30 1 2 0 54
Laboratory of Medical Genetics, INSERM 51 0 0 0 0 0 51
Mendelics 15 2 8 12 10 0 47
Institute of Human Genetics, Klinikum rechts der Isar 42 3 0 0 0 0 45
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 26 3 6 0 6 0 41
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 1 9 27 0 39
MyeliNeuroGene Lab,McGill University Health Center Research Institute 35 0 0 0 0 0 35
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 0 3 27 0 34
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 20 9 1 1 0 0 31
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 25 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 18 0 5 1 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 5 12 1 0 0 24
Myriad Women's Health, Inc. 5 18 0 0 0 0 23
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 20
Center for Human Genetics, Inc,Center for Human Genetics, Inc 5 6 5 2 1 0 19
Institute of Human Genetics, University of Leipzig Medical Center 9 2 8 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 13 0 18
Endocrinology Clinic, Seth G.S. Medical College 9 7 0 0 0 0 16
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 13 2 0 0 0 0 15
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 4 1 0 0 0 13
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 13
Sharon lab,Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 12
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 6 3 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 1 0 0 0 11
Athena Diagnostics Inc 0 0 0 0 10 0 10
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 4 6 0 0 0 0 10
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Broad Institute Rare Disease Group, Broad Institute 4 3 1 1 0 0 9
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 7 0 0 0 8
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 6 0 0 0 0 8
Sydney Genome Diagnostics,Children's Hospital Westmead 2 4 2 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 7 0 0 0 0 0 7
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 5 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 5 2 0 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 4 0 0 0 0 6
Hadassah Hebrew University Medical Center 1 5 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 1 0 0 0 6
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 2 0 0 0 0 6
Clinical Genetics laboratory, University of Goettingen 3 2 0 0 0 0 5
Institute of Human Genetics,Cologne University 2 2 1 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 1 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 1 1 2 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 3 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 2 3 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 2 1 1 0 0 0 4
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 4 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 2 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Autoinflammatory diseases unit,CHU de Montpellier 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 3
Department of Neurology,Kindai University 3 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 1 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Human Molecular Genetics Lab,Quaid-I-Azam University 1 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 1
Research Centre for Medical Genetics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Gujarat Genomics Initiative,Gujarat State Biotechnology Mission 1 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology,Tokyo Medical and Dental University 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 1 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Heon Lab,The Hospital for Sick Children 1 0 0 0 0 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Department of Endocrinology, Metabolism and Genetics,Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine,Vilnius university 1 0 0 0 0 0 1

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