ClinVar Miner

Variants studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (62):
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
282 93 1015 246 175 12 1745

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CARS2 4 1 204 71 15 1 291
FARS2 27 17 129 51 14 0 218
AARS2, POLR1C 9 7 99 8 32 0 152
ELAC2 11 3 91 34 13 0 150
MTO1 13 11 69 23 6 0 117
GFM1 20 7 60 17 20 0 116
EARS2 11 3 56 12 24 3 107
TUFM 3 1 50 5 6 0 64
MTRFR 7 1 38 10 8 0 61
TSFM 5 1 38 7 4 0 51
ATPAF2 1 1 29 2 9 0 41
VARS2 12 5 19 0 3 1 37
AIFM1, RAB33A 5 2 12 4 14 0 36
NARS2 12 3 10 0 1 1 24
PNPT1 11 7 7 0 0 1 24
MRPS22 4 0 16 2 1 0 23
MIPEP 7 5 11 0 0 0 22
MTFMT 10 1 6 0 1 1 19
RMND1 9 3 8 0 0 1 19
GTPBP3 7 4 6 0 1 1 18
DNAJC9, MRPS16 1 0 9 0 0 0 10
TRIT1 6 2 6 0 0 0 9
SFXN4 6 1 1 0 0 0 8
TARS2 2 0 6 0 0 0 8
TRMT5 3 0 5 0 0 0 8
FASTKD2 6 0 0 0 1 0 7
GFM2 6 0 1 0 0 0 7
C1QBP 6 0 0 0 0 0 6
LOC101928525, MRPS2 3 0 2 0 0 0 5
MARS2 3 0 2 0 0 0 5
MPHOSPH9, MTRFR 0 0 5 0 0 0 5
MT-ATP6 5 0 0 0 0 0 5
QRSL1 5 0 0 0 0 0 5
AVIL, TSFM 0 0 2 0 2 0 4
COPB2, MRPS22 1 0 4 0 0 0 4
LOC112903839, MRPS22 0 0 4 0 0 0 4
MRPL3 2 0 1 0 0 1 4
MRPL44 2 1 1 0 0 1 4
NSUN3 4 0 0 0 0 0 4
SLC25A26 4 0 0 0 0 0 4
ATP5F1A 2 0 1 0 0 0 3
ATP5MK 1 1 1 0 0 0 3
LYRM4 1 0 2 0 0 0 3
MICOS13 3 0 0 0 0 0 3
EME2, MRPS34 2 2 0 0 0 0 2
GATB 2 0 0 0 0 0 2
MRPS34 2 0 0 0 0 0 2
MRPS7 1 1 2 0 0 0 2
PTCD3 2 0 0 0 0 0 2
TIMM22 2 0 0 0 0 0 2
TRMT10C 2 0 0 0 0 0 2
TXN2 1 0 1 0 0 0 2
ATP5F1E, SLMO2-ATP5E 1 0 0 0 0 0 1
FARS2, LOC121099722 0 1 0 0 0 0 1
FARS2, LYRM4 0 1 0 0 0 0 1
GATC 1 0 0 0 0 0 1
LOC110121048, MRPS28, TPD52 1 0 0 0 0 0 1
MIPEP, PCOTH 0 0 1 0 0 0 1
MRPL12 1 0 0 0 0 0 1
MRPS14 1 0 0 0 0 0 1
MRPS23 1 0 0 0 0 0 1
MRPS28, TPD52 1 0 0 0 0 0 1
TMEM70 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 32 6 467 176 44 0 725
Illumina Clinical Services Laboratory,Illumina 0 2 368 49 114 0 533
OMIM 186 0 0 0 0 0 186
Baylor Genetics 16 9 113 0 0 0 138
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 13 19 10 11 0 54
Institute of Human Genetics, Klinikum rechts der Isar 20 19 0 0 0 0 39
Natera, Inc. 2 0 14 14 7 0 37
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 5 8 1 2 0 22
Mendelics 4 5 2 1 8 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 11 0 0 0 16
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 15 1 0 0 0 0 16
SIB Swiss Institute of Bioinformatics 4 6 4 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 12 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 7 0 8
Fulgent Genetics,Fulgent Genetics 2 1 4 0 0 0 7
Undiagnosed Diseases Network,NIH 1 2 3 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 0 5
Kids Research, The Children's Hospital at Westmead 4 1 0 0 0 0 5
Department of Medical Genetics,Faculty of Medicine, Istanbul University 3 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 1 0 0 0 3
Institute of Pediatric Research, Children's Hospital of Soochow University,Soochow University 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 2 0 0 0 0 0 2
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 0 1 1 0 0 0 2
Rare Disease Research Group,Islamia College Peshawar 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Department of Human Genetics,McGill University 1 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 0 1 0 0 0 0 1
ENT and Head & Neck Research Center and Department,The Five Senses Institute 0 0 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 0 1

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