ClinVar Miner

Variants in gene ALPL

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 not provided total
93 98 155 123 38 2 424

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 77 33 64 107 13 0 275
Infantile hypophosphatasia 22 59 35 3 0 0 114
Hypophosphatasia 19 8 40 18 27 1 110
not specified 0 2 6 7 15 0 28
Adult hypophosphatasia 12 6 7 0 0 0 25
none provided 2 1 3 2 9 0 17
Low alkaline phosphatase 1 5 10 0 0 0 16
Childhood hypophosphatasia 9 2 1 0 0 0 11
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 5 2 0 0 0 0 7
Odontohypophosphatasia 4 0 0 0 0 0 4
Hypophosphatasia, perinatal lethal 2 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Skeletal dysplasia 2 0 0 0 0 0 2
Hypophosphatemia 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 20 36 105 10 0 246
Counsyl 4 52 35 3 0 0 94
Illumina Clinical Services Laboratory,Illumina 5 0 25 15 25 0 70
Natera, Inc. 9 1 15 6 9 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 3 12 0 8 0 29
Integrated Genetics/Laboratory Corporation of America 11 8 3 1 2 0 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 3 5 4 9 0 24
OMIM 23 0 0 0 0 0 23
GeneDx 3 4 9 2 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 4 12 0 16
Institute of Human Genetics,University of Wuerzburg 1 5 10 0 0 0 16
Athena Diagnostics Inc 0 3 2 0 9 0 14
Institute of Human Genetics, University of Leipzig Medical Center 4 1 6 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 1 0 1 1 0 9
GeneReviews 5 0 0 0 3 0 8
Fulgent Genetics,Fulgent Genetics 5 2 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 2 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 1 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 1 0 0 0 0 5
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Baylor Genetics 1 1 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 2 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 1 0 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 0 0 0 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 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.