ClinVar Miner

Variants studied for Pelizaeus-Merzbacher-like disease

Included ClinVar conditions (5):
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
41 8 2 0 2 1 53

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
SLC16A2 24 5 1 2 0 31
GJC2 10 2 1 0 0 13
AIMP1 4 0 0 0 1 5
SNAP29 2 0 0 0 0 2
HSPD1 1 0 0 0 0 1
POLR3A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 24 0 0 0 0 24
Genetic Services Laboratory, University of Chicago 9 5 1 0 0 15
GeneReviews 8 0 0 2 0 10
Fulgent Genetics 1 0 1 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 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.