ClinVar Miner

Variants studied for myopathy of extraocular muscle

Included ClinVar conditions (13):
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
40 10 87 11 56 13 204

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF21A 8 2 57 11 56 0 132
BCL2L2-PABPN1, PABPN1 10 1 13 0 0 0 22
TUBB3 8 2 4 0 0 13 19
COL25A1 4 3 2 0 0 0 9
HNRNPA2B1 4 0 0 0 0 0 4
PHOX2A 3 0 1 0 0 0 3
TUBA1A 1 2 0 0 0 0 3
MYH10 0 0 2 0 0 0 2
ANXA11 1 0 0 0 0 0 1
CTNNA1 0 0 1 0 0 0 1
FGF21, LOC109279247 0 0 1 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 1
KIF21A, LOC130007673 0 0 1 0 0 0 1
MCM3AP 0 0 1 0 0 0 1
NES 0 0 1 0 0 0 1
PABPN1 1 0 0 0 0 0 1
TUBA1B 0 0 1 0 0 0 1
TUBB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 53 9 55 0 118
OMIM 25 0 0 0 0 0 25
Revvity Omics, Revvity 6 1 13 0 0 0 20
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 11 0 0 0 12
GeneReviews 1 0 0 0 0 10 11
Fulgent Genetics, Fulgent Genetics 2 0 1 2 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 1 0 5
MGZ Medical Genetics Center 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Engle Laboratory, Boston Children's Hospital 1 2 0 0 0 0 3
Mendelics 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory - IPER, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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