ClinVar Miner

Variants studied for Pelizaeus-Merzbacher disease

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Gene type:
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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 total
20 4 2 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PLP1, RAB9B 18 3 1 22
GJC2 0 1 1 2
PLP1 2 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 16 0 0 16
Baylor Miraca Genetics Laboratories, 2 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 2
Center for Human Genetics, Inc 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 1
TIDEX, University of British Columbia 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 1

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