ClinVar Miner

Variants studied for hypogonadotropic hypogonadism 2 with or without anosmia

Included ClinVar conditions (4):
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
98 69 336 264 54 6 1 773

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FGFR1 95 68 299 260 42 6 1 716
FGFR1, LOC102723716 0 1 31 3 11 0 0 46
FGFR1, LOC130000233 0 0 3 1 0 0 0 4
FGFR1, LOC130000232 0 0 2 0 1 0 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
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
PROKR2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 32 16 183 241 34 0 0 506
Reproductive Endocrine Unit, Massachusetts General Hospital 53 34 55 1 0 0 0 143
Illumina Laboratory Services, Illumina 0 0 90 21 26 0 0 137
Fulgent Genetics, Fulgent Genetics 1 5 39 26 2 0 0 73
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 0 10
OMIM 3 0 0 0 0 6 0 9
Endocrinology Clinic, Seth G.S. Medical College 4 0 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 3 1 0 0 0 0 0 4
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 1 1 2 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 0 3
3billion 0 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 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 0 1
Laboratory of Human Genetics, Universidade de São Paulo 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.