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
120 58 445 119 123 16 1 851

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CHD7 15 5 159 42 43 0 0 262
FGFR1 22 24 123 46 33 6 0 244
GNRHR 19 2 73 8 17 0 0 118
ANOS1 26 9 13 4 10 0 0 61
PROKR2 7 6 19 14 10 0 0 47
TACR3 5 2 31 2 5 0 0 45
FGF8 7 3 4 0 1 0 0 14
SEMA3A 1 0 4 0 0 3 0 8
PROK2 6 0 0 0 1 0 0 7
DUSP6 2 0 2 0 1 2 0 6
HS6ST1 0 1 2 3 2 0 0 5
NSMF 0 0 3 0 0 2 0 5
SPRY4 3 0 1 0 0 1 0 4
WDR11 2 1 2 0 0 0 0 4
POLR3B 1 1 1 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 2
CCDC141 0 0 2 0 0 0 0 2
FGF17 1 0 0 0 0 1 0 2
FLRT3, MACROD2 1 0 1 0 0 0 0 2
KISS1R 0 0 1 0 0 1 0 2
PNPLA6 0 2 0 0 0 0 0 2
BBIP1 1 0 0 0 0 0 0 1
IL17RD 0 0 1 0 0 0 0 1
POLR2F, SOX10 0 0 0 0 0 0 1 1
RNF216 0 1 0 0 0 0 0 1
SEMA3E 0 0 1 0 0 0 0 1
SRA1 0 0 1 0 0 0 0 1
TAC3 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 4 0 345 86 101 0 0 536
Invitae 11 5 34 29 23 0 0 102
OMIM 67 0 1 0 0 16 0 84
Fulgent Genetics,Fulgent Genetics 5 3 12 0 0 0 0 20
Baylor Genetics 5 2 12 0 0 0 0 19
Mendelics 0 0 8 4 2 0 0 14
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 7 0 1 0 0 13
Genetics Department,Polish Mother's Memorial Hospital Research Institute 3 3 7 0 0 0 0 13
Endocrinology Clinic, Seth G.S. Medical College 10 2 0 0 0 0 0 12
Department of Urology, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 0 10
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 5 1 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 5
Athena Diagnostics Inc 0 0 0 0 3 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 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
Reproductive Health Research and Development,BGI Genomics 2 0 1 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 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
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 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
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 1 0 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
Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 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 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 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
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
School of Life Sciences,Central South University 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1

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