ClinVar Miner

Variants studied for Kallmann syndrome

Included ClinVar conditions (24):
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 total
96 34 160 92 26 16 412

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
CHD7 9 3 102 38 8 0 159
FGFR1 13 12 38 41 13 6 116
ANOS1 21 4 7 2 2 0 36
PROKR2 7 3 6 11 3 0 26
GNRHR 18 1 2 0 0 0 21
FGF8 7 3 1 0 0 0 11
TACR3 4 2 2 0 0 0 8
PROK2 6 0 0 0 0 0 6
DUSP6 2 0 0 0 0 2 4
SEMA3A 1 0 0 0 0 3 4
SPRY4 3 0 0 0 0 1 4
POLR3B 1 1 1 0 0 0 3
FGF17 1 0 0 0 0 1 2
NSMF 0 0 0 0 0 2 2
PNPLA6 0 2 0 0 0 0 2
WDR11 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
FLRT3, MACROD2 1 0 0 0 0 0 1
HS6ST1 0 1 0 0 0 0 1
KISS1R 0 0 0 0 0 1 1
RNF216 0 1 0 0 0 0 1
TAC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 4 0 127 85 14 0 230
OMIM 67 0 1 0 0 16 84
Invitae 5 1 8 6 10 0 30
Fulgent Genetics 5 3 12 0 0 0 20
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 13
Endocrinology Clinic, Seth G.S. Medical College 10 2 0 0 0 0 12
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 5 1 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 5
Athena Diagnostics Inc 0 0 0 0 3 0 3
Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University 1 1 0 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 2 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Research Centre for Medical Genetics 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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