ClinVar Miner

Variants studied for Pelizaeus-Merzbacher disease

Coded as:
Minimum submission review status: Collection method:
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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
43 87 26 0 3 3 151

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PLP1, RAB9B 41 86 25 3 3 147
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 1
ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, LOC126863297, LOC130068514, LOC130068515, LOC130068516, LOC130068517, LOC286437, PLP1, RAB9B, SLC25A53, TMSB15B, TMSB15C, ZCCHC18 1 0 0 0 0 1
GJC2 0 1 0 0 0 1
H2BW1, H2BW2, LOC126863297, LOC130068514, PLP1, RAB9B, TMSB15B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 14 73 13 0 0 100
OMIM 16 0 0 0 0 16
Baylor Genetics 4 0 2 0 0 6
Mendelics 2 1 0 0 0 3
GeneReviews 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 0 2
3billion, Medical Genetics 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Optical Genome Mapping Laboratory, Clinical Institute of Genomic Medicine, University Medical Center Ljubljana 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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