ClinVar Miner

Variants studied for Leigh 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
90 37 1424 412 795 1 2739

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MT-ND5 3 2 112 48 104 0 268
MT-CYB 1 0 121 36 94 0 252
MT-ATP6 11 4 85 47 92 0 238
MT-ND2 2 1 61 42 51 0 157
MT-CO1 0 1 86 20 47 0 154
NDUFA10 0 0 114 11 29 0 153
MT-CO3 2 0 69 29 40 0 140
MT-ND1 5 0 54 23 52 0 133
MT-ND4 2 1 54 20 38 0 114
MT-CO2 0 0 44 18 25 0 87
MT-ND6 3 1 34 16 33 0 87
SURF1 26 10 41 12 11 0 86
COX10 0 0 45 10 25 0 80
NDUFS1 0 3 52 10 15 0 80
SDHA 1 0 45 10 20 0 76
DLD 0 0 48 5 19 0 72
COX15 0 1 62 4 3 0 70
MT-ATP8 0 0 22 7 28 0 57
NDUFV1 1 3 42 2 4 0 51
MT-ND3 5 0 17 7 12 0 41
SCO1 0 0 30 2 7 0 39
COX15, ENTPD7 0 0 28 4 3 0 35
NDUFS4 4 1 15 2 5 0 27
MT-ND4L 0 0 12 6 7 0 25
MT-ATP6, MT-ATP8 0 0 3 8 13 0 24
NDUFS8 0 3 20 0 1 0 24
BCS1L 1 0 18 1 3 0 23
NDUFS3 0 0 22 0 0 0 22
NDUFS7 0 0 17 0 2 0 19
NDUFAF2 2 0 13 1 2 0 18
COX15, CUTC 0 0 10 0 2 0 12
LOC112529895, SCO1 0 0 9 1 0 0 10
LRPPRC 0 0 8 0 1 0 9
GAMT, NDUFS7 0 0 0 7 0 0 7
COX10, LOC105943586 0 0 2 1 2 0 5
FOXRED1 3 0 2 0 0 0 5
ERCC8, NDUFAF2 0 0 1 1 2 0 4
NDUFAF6 2 1 1 0 0 0 4
FASTKD2 3 0 0 0 0 0 3
LOC112081413, NDUFS8 0 0 2 0 1 0 3
MT-TW 3 0 0 0 0 0 3
ECHS1 0 2 0 0 0 0 2
IARS2 2 0 0 0 0 0 2
MRPS34 1 1 0 0 0 0 2
MT-TK 2 0 0 0 0 0 2
MT-TV 2 0 0 0 0 0 2
NDUFAF5 0 2 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
​intergenic 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
GYG2 0 0 0 0 0 1 1
MT-CO1, MT-TS1 0 0 0 0 1 0 1
MT-TL1 1 0 0 0 0 0 1
MTFMT 1 0 0 0 0 0 1
NDUFA12 0 0 1 0 0 0 1
TIMMDC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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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 15 10 772 327 637 0 1761
Illumina Clinical Services Laboratory,Illumina 0 1 617 76 148 0 842
Invitae 12 1 21 8 8 0 50
GeneReviews 37 0 0 0 0 0 37
Integrated Genetics/Laboratory Corporation of America 15 6 0 0 0 0 21
Mendelics 3 5 4 1 3 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 8 0 0 0 10
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 5
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 2 3 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 2 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 0 1 2 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Samuels research lab,Centre de Recherche du CHU Ste-Justine 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Mitochondrial Research Group,Murdoch Children's Research Institute 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Simons Lab, The University of Queensland 1 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics of Mitochondrial Diseases,Imagine Institute 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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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