ClinVar Miner

Variants studied for Kallmann syndrome

Included ClinVar conditions (27):
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
240 132 1162 515 187 19 5 2123

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FGFR1 105 73 370 309 44 6 1 831
CHD7 27 13 478 132 49 0 2 691
ANOS1 60 15 82 28 43 0 0 214
PROKR2 8 20 85 19 10 0 0 117
FGFR1, LOC102723716 0 1 31 4 11 0 0 47
TACR3 5 1 33 4 5 0 0 46
CHD7, LOC126860403 2 0 25 7 1 0 0 35
WDR11 2 3 10 1 10 0 0 24
FGF8 7 4 8 1 2 0 1 20
SEMA3A 1 1 7 3 0 5 0 16
KISS1R 2 0 4 2 2 1 0 11
PROK2 6 0 1 1 1 0 0 8
DUSP6 3 0 2 0 1 2 0 7
NSMF 0 0 4 1 0 1 0 6
FLRT3, MACROD2 1 0 3 0 1 0 0 5
SPRY4 3 0 2 0 0 1 0 5
FGFR1, LOC130000233 0 0 3 1 0 0 0 4
FGFR1, LOC130000232 0 0 2 0 1 0 0 3
HS6ST1 0 0 1 0 2 0 0 3
IL17RD 0 0 0 0 3 0 0 3
IL17RD, LOC126806689 0 0 1 1 1 0 0 3
LOC126860797, NSMF 0 0 2 0 0 1 0 3
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 0 0 2
FEZF1 0 0 1 1 0 0 0 2
FGF17 1 0 0 0 0 1 0 2
KISS1R, LOC130062853 0 0 2 0 0 0 0 2
POLR2F, SOX10 1 0 0 0 0 0 1 2
SEMA3E 1 1 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, FGFR1, GOT1L1, LETM2, LINC03042, LOC102723716, LOC107133509, LOC108863620, LOC110121182, LOC113788278, LOC113788279, LOC116186927, LOC121740715, LOC124153143, LOC124153144, LOC124153145, LOC124153146, LOC124153147, LOC130000208, LOC130000209, LOC130000210, LOC130000211, LOC130000212, LOC130000213, LOC130000214, LOC130000215, LOC130000216, LOC130000217, LOC130000218, LOC130000219, LOC130000220, LOC130000221, LOC130000222, LOC130000223, LOC130000224, LOC130000225, LOC130000226, LOC130000227, LOC130000228, LOC130000229, LOC130000230, LOC130000231, LOC130000232, LOC130000233, LSM1, NSD3, PLPP5, RAB11FIP1, STAR 1 0 0 0 0 0 0 1
FGFR1, LOC130000230, LOC130000231, LOC130000232, LOC130000233 1 0 0 0 0 0 0 1
HS6ST1, LOC121725102 0 0 1 0 0 0 0 1
IL17RD, LOC129936924 0 0 1 0 0 0 0 1
LOC129998733, LOC129998734, SEMA3A 0 0 0 0 0 1 0 1
PNPLA6 1 0 0 0 0 0 0 1
SRA1 0 0 1 0 0 0 0 1
TCF12 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 13 18 552 161 11 0 0 755
Labcorp Genetics (formerly Invitae), Labcorp 77 21 257 299 78 0 0 732
Illumina Laboratory Services, Illumina 1 0 275 78 84 0 0 438
Reproductive Endocrine Unit, Massachusetts General Hospital 53 34 55 1 0 0 0 143
OMIM 53 0 1 0 0 19 0 73
Genome-Nilou Lab 0 0 0 0 27 0 0 27
Baylor Genetics 9 3 11 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 6 1 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 7 0 0 0 0 13
3billion, Medical Genetics 0 3 3 7 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 0 0 0 0 0 12
Mendelics 3 0 5 1 3 0 0 12
Genetics Department, Polish Mother's Memorial Hospital Research Institute 3 3 6 0 0 0 0 12
Revvity Omics, Revvity 1 3 7 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 4 0 0 0 11
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 0 10
Genomics England Pilot Project, Genomics England 4 5 0 0 0 0 0 9
Endocrinology Clinic, Seth G.S. Medical College 6 2 0 0 0 0 0 8
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 5 1 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 6 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 1 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 0 7
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 1 3 2 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 5
MGZ Medical Genetics Center 2 1 2 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 1 0 0 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 3 0 0 0 0 0 5
New York Genome Center 0 1 4 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 3
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Sun Yet-sen University 1 1 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 1 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 1 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
School of Life Sciences, Central South University 1 0 0 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 1

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