ClinVar Miner

Variants studied for Mitochondrial complex IV deficiency, nuclear type 1

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
63 23 315 38 39 1 475

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FASTKD2 2 1 127 11 10 0 151
COX10 1 2 56 11 14 0 83
SURF1 29 14 4 0 0 0 46
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
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
PET100, STXBP2 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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 291 38 38 0 368
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
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
3billion 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 0 2 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 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
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

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