ClinVar Miner

Variants studied for Pelizeaus-Merzbacher spectrum disorder

Included ClinVar conditions (2):
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
30 13 15 1 4 3 64

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLP1, RAB9B 27 12 13 1 4 3 59
GJC2 0 1 1 0 0 0 2
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31 1 0 0 0 0 0 1
ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, LINC02589, LL0XNC01-250H12.3, LOC113845781, LOC126863296, LOC126863297, LOC130068509, LOC130068510, LOC130068511, LOC130068512, LOC130068513, LOC130068514, LOC130068515, LOC130068516, LOC130068517, LOC286437, MORF4L2, PLP1, RAB40A, RAB9B, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B, TMSB15C, ZCCHC18 1 0 0 0 0 0 1
ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, LOC126863297, LOC130068514, LOC130068515, LOC130068516, LOC130068517, LOC286437, PLP1, RAB9B, SLC25A53, TMSB15B, TMSB15C, ZCCHC18 1 0 0 0 0 0 1
H2BW1, H2BW2, LOC126863297, LOC130068514, PLP1, RAB9B, TMSB15B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 16 0 0 0 0 0 16
Baylor Genetics 4 0 4 0 0 0 8
Mendelics 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 0 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Optical Genome Mapping Laboratory, Clinical Institute of Genomic Medicine, University Medical Center Ljubljana 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 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.