ClinVar Miner

Variants studied for Pelizaeus-Merzbacher disease

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 total
27 8 6 0 1 42

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PLP1, RAB9B 24 7 5 1 37
GJC2 0 1 1 0 2
PLP1 2 0 0 0 2
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 16 0 0 0 16
Baylor Genetics 3 0 3 0 6
GeneReviews 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 3
Mendelics 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 0 1
TIDEX, University of British Columbia 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 1

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