ClinVar Miner

Variants studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (52):
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
222 71 804 159 172 12 1385

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CARS2 3 1 140 36 15 1 196
FARS2 19 16 99 29 14 0 157
AARS2 6 4 92 8 32 0 140
ELAC2 8 2 71 21 13 0 113
EARS2 10 3 52 12 24 3 102
GFM1 15 6 46 11 19 0 94
MTO1 9 8 51 10 6 0 81
TUFM 3 1 47 5 6 0 61
C12orf65 7 1 37 8 8 0 58
DNAJC9, MRPS16 1 0 40 10 0 0 51
TSFM 4 1 36 1 4 0 46
ATPAF2 1 0 26 2 9 0 37
AIFM1, RAB33A 5 1 10 4 14 0 34
VARS2 10 4 6 0 3 1 22
MRPS22 2 0 14 2 1 0 19
NARS2 12 3 3 0 1 1 17
PNPT1 10 4 2 0 0 1 15
GTPBP3 7 4 1 0 1 1 14
RMND1 8 2 4 0 0 1 14
MTFMT 10 1 1 0 0 1 13
MIPEP 7 3 3 0 0 0 12
C1QBP 6 0 0 0 0 0 6
GFM2 6 0 0 0 0 0 6
SFXN4 6 0 0 0 0 0 6
TRIT1 6 1 4 0 0 0 6
TRMT5 3 0 3 0 0 0 6
C12orf65, MPHOSPH9 0 0 5 0 0 0 5
MT-ATP6 5 0 0 0 0 0 5
AVIL, TSFM 0 0 2 0 2 0 4
COPB2, MRPS22 0 0 4 0 0 0 4
MRPS34 4 2 0 0 0 0 4
SLC25A26 4 0 0 0 0 0 4
LOC101928525, MRPS2 3 0 0 0 0 0 3
LOC112903839, MRPS22 0 0 3 0 0 0 3
MICOS13 3 0 0 0 0 0 3
MRPL3 2 0 0 0 0 1 3
MRPL44 2 1 0 0 0 1 3
TARS2 2 0 1 0 0 0 3
ATP5F1A 2 0 0 0 0 0 2
LYRM4 1 0 1 0 0 0 2
MARS2 2 0 0 0 0 0 2
TRMT10C 2 0 0 0 0 0 2
ATP5F1E, SLMO2-ATP5E 1 0 0 0 0 0 1
ATP5MD 1 0 0 0 0 0 1
FARS2, LYRM4 0 1 0 0 0 0 1
MRPS14 1 0 0 0 0 0 1
MRPS7 1 1 0 0 0 0 1
TMEM70 1 0 0 0 0 0 1
TXN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 399 59 114 0 574
Invitae 16 3 344 90 44 0 497
OMIM 160 0 0 0 0 0 160
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
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
Baylor Genetics 4 2 3 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 6 0 7
Fulgent Genetics,Fulgent Genetics 2 1 4 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 2 0 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
Undiagnosed Diseases Network,NIH 1 2 3 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
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 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
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 Medical Genetics,Faculty of Medicine, Istanbul University 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 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
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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 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

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