ClinVar Miner

Variants studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (84):
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
717 314 1197 289 258 5 2594

Gene and significance breakdown #

Total genes and gene combinations: 94
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD7 151 26 188 63 62 1 448
BBS10 38 63 62 10 7 0 162
BBS2 27 36 63 21 10 0 134
BBS12 18 27 54 20 22 0 119
BBS9 24 3 44 27 25 0 107
RAB3GAP2 2 1 82 18 6 0 105
CEP290 12 2 75 7 4 0 100
BBS1, ZDHHC24 24 23 46 5 8 0 95
ASTN2, TRIM32 4 1 65 9 3 0 80
BBS4 21 6 27 10 17 0 77
MKS1 5 20 47 7 1 0 77
DCAF17 9 1 43 10 15 0 76
NR0B1 67 3 2 0 0 0 70
MKKS 16 3 32 10 10 0 69
BBS7 14 3 33 6 10 0 62
WDPCP 2 0 46 11 7 0 61
LOC101929710, PCSK1 4 0 41 10 0 0 55
BBS1 12 21 11 6 3 1 46
LEP 2 1 33 8 1 0 45
PROP1 12 24 9 1 2 0 43
SDCCAG8 6 3 26 3 6 0 42
TTC8 4 0 23 6 6 0 36
LEPR 3 0 22 3 6 0 33
POLR1C 30 1 2 0 0 0 32
SIM1 0 0 22 5 4 0 31
BBS5 12 6 3 2 7 0 30
SEMA3E 1 0 18 1 7 0 27
ARL6 7 2 10 3 2 0 23
POLR3A 18 1 5 0 0 0 23
POU1F1 17 3 1 0 1 1 22
GNRHR 18 1 2 0 0 0 21
HESX1 10 1 8 1 1 0 20
SMCHD1 20 0 0 0 0 0 20
MAGEL2 13 1 4 1 0 0 19
POLR3B 10 3 2 0 0 0 15
HBB, LOC106099062, LOC107133510 11 1 0 0 1 1 14
LHX3 9 0 4 1 0 0 14
PNPLA6 10 2 2 0 0 0 14
ACBD6, LHX4 5 0 1 0 1 1 8
DCAF17, METTL8 2 0 6 0 0 0 8
FGFR1 0 8 0 0 0 0 8
RNF216 7 1 0 0 0 0 8
AKT3, SDCCAG8 0 0 6 0 1 0 7
TMEM67 3 2 2 0 0 0 7
C12orf29, CEP290 0 0 5 1 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 5
HBB, LOC107133510, LOC110006319 3 0 2 0 0 0 5
LEPR, LEPROT 0 0 3 0 1 0 4
LZTFL1 3 0 1 0 0 0 4
C8orf37 2 0 1 0 0 0 3
LHX4 2 0 1 0 0 0 3
​intergenic 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
BBIP1 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
IFT74 2 1 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 2
SOX3 2 0 0 0 0 0 2
ALMS1 0 1 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
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 0 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 0 0 0 1
DMXL2 1 0 0 0 0 0 1
GLI1 0 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HERC2 0 0 1 0 0 0 1
HS6ST1 0 1 0 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT27 1 0 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 1
LOC100287944, POLR3B 0 1 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 1
NDN 0 0 1 0 0 0 1
NPHP1 1 0 0 0 0 0 1
OTX2 1 0 0 0 0 0 1
PCSK1 1 0 0 0 0 0 1
PROKR2 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 1
RBM28 1 0 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
TRAPPC3 0 1 0 0 0 0 1
WDR11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 10 4 798 181 70 0 1063
Invitae 116 16 220 80 153 0 585
Counsyl 30 186 110 9 1 0 336
OMIM 270 0 0 0 0 0 270
Fulgent Genetics 40 8 46 1 0 0 95
GeneReviews 47 0 0 0 16 0 63
Genetic Services Laboratory, University of Chicago 41 8 13 0 0 0 62
Laboratory of Medical Genetics, INSERM 46 0 0 0 0 0 46
Division of Genomic Diagnostics,The 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
Integrated Genetics/Laboratory Corporation of America 20 14 0 2 2 0 38
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 0 3 27 0 34
Institute of Human Genetics,Klinikum rechts der Isar 30 1 0 0 0 0 31
MyeliNeuroGene Lab,McGill University Health Center Research Institute 29 0 0 0 0 0 29
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 7 3 12 0 0 0 22
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 20
Center for Human Genetics, Inc 5 6 5 2 1 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 13 0 18
Baylor Miraca Genetics Laboratories, 12 1 3 0 0 0 16
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 15
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 10 4 0 0 0 0 14
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
Endocrinology Clinic, Seth G.S. Medical College 6 4 0 0 0 0 10
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 8 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Broad Institute Rare Disease Group,Broad Institute 3 3 1 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
HudsonAlpha Institute for Biotechnology 4 0 1 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 1 1 2 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 2 0 0 0 0 5
Institute of Human Genetics,University of Goettingen 2 2 0 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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 0 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 2 0 0 0 3
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 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 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,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 (IUMS) 1 0 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute 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
The Translational Medicine Center of Children Development and Disease,Fudan University 1 0 0 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
InterGenetics 1 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1

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