ClinVar Miner

Variants studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (45):
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
157 47 408 121 82 9 794

Gene and significance breakdown #

Total genes and gene combinations: 43
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AARS2 6 2 57 12 12 0 87
FARS2 5 14 45 19 13 0 85
ELAC2 7 2 37 15 13 0 72
CARS2 3 0 27 21 13 1 65
EARS2 8 2 41 4 9 2 64
GFM1 5 1 36 10 5 0 57
DNAJC9, MRPS16 1 0 40 10 0 0 51
MTO1 6 4 19 11 6 0 45
TUFM 3 1 29 3 3 0 39
TSFM 4 1 23 1 1 0 30
C12orf65 3 1 14 6 4 0 27
AIFM1, RAB33A 2 1 5 8 3 0 19
MTFMT 11 1 1 0 0 1 14
NARS2 13 0 0 0 0 1 14
PNPT1 9 3 2 0 0 0 13
MIPEP 7 2 3 0 0 0 12
MRPS22 2 0 9 1 0 0 12
GTPBP3 7 3 0 0 0 0 10
VARS2 3 3 3 0 0 1 10
RMND1 7 0 1 0 0 1 8
C1QBP 6 0 0 0 0 0 6
TRIT1 6 1 4 0 0 0 6
MRPS34 4 2 0 0 0 0 4
SFXN4 4 0 0 0 0 0 4
SLC25A26 4 0 0 0 0 0 4
AVIL, TSFM 0 0 3 0 0 0 3
COPB2, MRPS22 0 0 3 0 0 0 3
LOC101928525, MRPS2 3 0 0 0 0 0 3
TARS2 2 0 1 0 0 0 3
TRMT5 3 0 0 0 0 0 3
ATP5F1A 2 0 0 0 0 0 2
ATPAF2 1 0 1 0 0 0 2
C12orf65, MPHOSPH9 0 0 2 0 0 0 2
LYRM4 1 0 1 0 0 0 2
MARS2 2 0 0 0 0 0 2
MRPL3 1 0 0 0 0 1 2
MRPL44 1 1 0 0 0 1 2
TRMT10C 2 0 0 0 0 0 2
ATP5F1E, SLMO2-ATP5E 1 0 0 0 0 0 1
FARS2, LYRM4 0 1 0 0 0 0 1
LOC112903839, MRPS22 0 0 1 0 0 0 1
MRPS7 1 1 0 0 0 0 1
TXN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 257 55 36 0 350
Invitae 3 0 105 56 39 0 203
OMIM 133 0 0 0 0 0 133
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 16 17 0 0 0 0 33
SIB Swiss Institute of Bioinformatics 4 4 4 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Baylor Genetics 3 2 3 0 0 0 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 8
Fulgent Genetics 2 1 4 0 0 0 7
Undiagnosed Diseases Network,NIH 1 2 3 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 3 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1 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
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
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
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 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.