ClinVar Miner

Variants in gene ATP13A2

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
20 3 140 44 32 2 208

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parkinson disease 9 12 2 49 12 8 2 82
not provided 3 1 41 9 24 0 73
Parkinson disease 9; Spastic paraplegia 78, autosomal recessive 1 1 41 8 13 0 64
History of neurodevelopmental disorder 0 1 22 21 15 0 59
not specified 0 0 5 7 15 0 24
Spastic paraplegia 78, autosomal recessive 5 0 1 0 0 0 6
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 49 7 8 0 65
Ambry Genetics 1 1 22 21 15 0 60
Invitae 2 1 34 8 13 0 58
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 8 14 0 25
Athena Diagnostics Inc 0 0 6 1 17 0 24
Genetic Services Laboratory, University of Chicago 0 0 6 4 10 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 12 2 5 0 20
PreventionGenetics 0 0 0 2 13 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 13 1 0 0 15
OMIM 13 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 6 4 0 10
GeneDx 2 0 5 1 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Fulgent Genetics 1 0 3 0 0 0 4
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 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.