ClinVar Miner

Variants studied for Mitochondrial complex IV deficiency, nuclear type 1

Coded as:
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
64 30 314 38 39 1 480

Gene and significance breakdown #

Total genes and gene combinations: 38
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FASTKD2 2 1 126 11 10 0 150
COX10 1 2 56 11 14 0 83
SURF1 29 21 4 0 0 0 51
SCO1 1 0 30 4 2 0 37
TACO1 1 2 19 1 1 0 24
NCAPH2, SCO2 0 0 15 0 0 0 15
LOC112529895, SCO1 0 0 12 2 0 0 14
COX6B1 2 1 5 1 1 0 9
FASTKD2, LOC129935479 0 0 7 1 1 0 9
LOC130067862, SCO2, TYMP 0 0 6 1 2 0 9
MT-TS1 6 0 1 0 0 0 7
MT-CO2 5 0 1 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 3 0 6
COX10, LOC105943586 0 0 3 0 2 0 5
MT-CO3 4 0 1 0 0 0 5
SCO2, TYMP 0 0 3 2 0 0 5
COA8 1 1 2 0 0 0 4
COX15, ENTPD7 0 0 3 0 1 0 4
COX15 0 0 3 0 0 0 3
COX20 0 0 3 0 0 0 3
LOC130002899, SURF1 0 2 1 0 0 0 3
PET100, STXBP2 3 0 0 0 0 0 3
SCO2 0 0 3 0 0 0 3
COA3 2 0 0 0 0 0 2
COX6B1, LOC130064250 0 0 2 0 0 0 2
COX8A 1 0 1 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 2
MT-CO1 2 0 0 0 0 0 2
MT-TN 2 0 0 0 0 0 2
COX10, COX10-DT 0 0 1 0 0 0 1
COX10, LOC130060303 0 0 0 1 0 0 1
COX15, CUTC 0 0 1 0 0 0 1
COX18 0 0 1 0 0 0 1
COX4I1 1 0 0 0 0 0 1
FASTKD2, LOC126806484 0 0 1 0 0 0 1
MRPL44 0 0 0 0 0 1 1
MT-TL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 290 38 38 0 367
OMIM 30 0 0 0 0 0 30
Baylor Genetics 5 1 10 0 0 0 16
Mendelics 11 1 2 0 2 0 16
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 12 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 5 0 1 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 4 0 0 0 0 4
3billion 1 2 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 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.