ClinVar Miner

Variants studied for Hypogonadotropic hypogonadism 2 with or without anosmia

Coded as:
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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 total
75 55 163 22 26 6 335

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
FGFR1 73 54 127 18 14 6 280
FGFR1, LOC102723716 0 1 31 3 11 0 46
FGFR1, LOC130000233 0 0 3 1 0 0 4
FGFR1, LOC130000232 0 0 2 0 1 0 3
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 1
PROKR2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Reproductive Endocrine Unit, Massachusetts General Hospital 53 34 55 1 0 0 143
Illumina Laboratory Services, Illumina 0 0 90 21 26 0 137
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 10
OMIM 3 0 0 0 0 6 9
3billion 1 3 3 0 0 0 7
Endocrinology Clinic, Seth G.S. Medical College 4 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 3 1 0 0 0 0 4
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 1 1 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 1
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Sun Yet-sen University 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 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 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 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 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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