ClinVar Miner

Variants studied for Kallmann syndrome

Included ClinVar conditions (26):
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
206 112 752 429 179 19 5 1607

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FGFR1 93 68 296 260 42 6 1 713
CHD7 17 7 261 106 49 0 2 433
ANOS1 50 13 43 21 37 0 0 154
PROKR2 9 16 27 18 10 0 0 67
FGFR1, LOC102723716 0 1 31 4 11 0 0 47
TACR3 5 1 32 4 5 0 0 45
CHD7, LOC126860403 1 0 18 5 1 0 0 25
WDR11 2 2 7 1 10 0 0 20
FGF8 7 4 6 1 2 0 1 18
SEMA3A 1 0 5 3 0 5 0 13
KISS1R 2 0 2 2 2 1 0 9
PROK2 6 0 0 1 1 0 0 8
DUSP6 3 0 2 0 1 2 0 7
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
NSMF 0 0 2 1 0 1 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
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
IL17RD, LOC126806689 0 0 1 0 1 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
KISS1R, LOC130062853 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
POLR2F, SOX10 0 0 0 0 0 0 1 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: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 58 20 214 253 71 0 0 616
Illumina Laboratory Services, Illumina 1 0 275 78 84 0 0 438
Fulgent Genetics, Fulgent Genetics 8 8 184 126 10 0 0 336
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 6 3 10 0 0 0 0 19
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 0 0 0 0 6
3billion 0 3 3 0 0 0 0 6
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 0 4
Athena Diagnostics Inc 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
New York Genome Center 0 0 3 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 0 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
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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 1 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
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 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
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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1

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