ClinVar Miner

Variants studied for Adult hypophosphatasia

Coded as:
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 total
75 80 14 1 18 179

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALPL 75 80 14 1 18 179

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 66 69 1 0 0 136
Genome-Nilou Lab 0 0 1 1 18 20
Institute of Human Genetics, University of Leipzig Medical Center 2 3 3 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 1 0 0 6
OMIM 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Mendelics 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
NxGen MDx 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 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.