ClinVar Miner

Variants studied for MELAS syndrome

Coded as:
Minimum submission review status: Collection method:
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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
67 42 151 90 251 33 598

Gene and significance breakdown #

Total genes and gene combinations: 37
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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 3 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-TN 1 0 5 2 7 0 15
MT-ND5 7 3 3 0 0 6 14
MT-TM 0 1 5 1 6 0 13
MT-ND1 5 2 0 0 0 3 7
MT-CYB 0 1 0 0 2 1 4
MT-ND6 2 1 0 0 0 1 3
POLG 0 2 1 0 0 0 3
MT-CO3 0 0 1 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-ND3 0 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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 2 0 26
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 2 2 1 0 0 0 5
3billion 4 1 0 0 0 0 5
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
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University 0 1 0 0 0 0 1

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