ClinVar Miner

Variants studied for MELAS syndrome

Included ClinVar conditions (6):
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 40 152 90 249 35 595

Gene and significance breakdown #

Total genes and gene combinations: 35
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MT-TT 1 0 6 10 36 0 53
MT-TH 1 1 12 4 16 2 35
MT-TW 6 1 8 5 13 1 32
MT-TF 3 2 5 6 15 1 31
MT-TC 1 0 6 4 19 0 29
MT-TK 4 2 5 7 10 2 29
MT-TL1 11 4 6 4 6 6 29
MT-TG 0 1 11 5 11 0 28
MT-TV 4 3 12 6 5 2 28
MT-TD 0 1 9 6 11 0 27
MT-TQ 1 1 4 4 17 1 27
MT-TS2 3 2 7 2 13 1 25
MT-TS1 4 0 5 3 10 1 22
MT-TI 1 3 5 2 10 0 21
MT-TL2 2 1 6 2 9 1 21
MT-TA 1 0 6 4 8 0 19
MT-TP 1 1 9 2 6 0 19
MT-TR 0 3 3 4 8 0 18
MT-TY 0 0 9 5 4 0 18
MT-TE 2 2 2 2 9 0 17
MT-ND5 7 3 3 0 0 7 15
MT-TN 1 0 5 2 7 0 15
MT-TM 0 1 5 1 6 0 13
MT-ND1 4 2 0 0 0 3 6
MT-CYB 0 1 1 0 0 2 4
POLG 0 2 1 0 0 0 3
MT-CO3 0 0 1 0 0 1 2
MT-ND6 1 1 0 0 0 1 2
MT-ATP6 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 1 1
MT-CO1 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 1 1
MT-ND4 1 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 45 30 144 90 249 0 558
GeneReviews 0 0 0 0 0 32 32
Mendelics 23 0 1 0 0 0 24
OMIM 15 0 0 0 0 0 15
MGZ Medical Genetics Center 1 0 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Fulgent Genetics, Fulgent Genetics 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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.