ClinVar Miner

Variants studied for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Coded as:
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 40 151 90 249 33 592

Gene and significance breakdown #

Total genes and gene combinations: 33
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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 2 5 6 15 1 31
MT-TL1 12 4 6 4 6 7 30
MT-TC 1 0 6 4 19 0 29
MT-TK 4 2 5 7 10 2 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 3 0 0 0 4 7
POLG, POLGARF 0 2 1 0 0 0 3
MT-CO3 0 0 1 0 0 1 2
MT-CYB 0 1 0 0 0 1 2
MT-ND6 1 1 0 0 0 1 2
MT-ATP6 1 0 0 0 0 0 1
MT-CO1 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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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 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
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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