ClinVar Miner

Variants studied for Leigh syndrome

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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
152 84 1625 714 802 39 3367

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SURF1 88 17 176 285 13 0 557
MT-ND5 2 3 112 48 104 3 269
MT-CYB 1 0 121 36 94 0 252
MT-ATP6 6 4 86 47 92 9 238
MT-ND2 1 1 61 42 51 1 157
MT-CO1 0 1 86 20 47 0 154
NDUFA10 0 0 115 11 29 0 154
MT-CO3 0 0 69 29 40 2 140
MT-ND1 1 1 54 23 52 4 134
MT-ND4 0 1 54 20 38 2 114
MT-CO2 0 0 45 18 25 0 88
MT-ND6 2 1 34 16 33 3 87
COX10 0 0 49 10 24 0 83
SDHA 1 1 46 10 20 0 78
COX15 2 1 62 4 3 0 72
DLD 0 0 48 5 19 0 72
NDUFS1 0 3 45 9 13 0 70
MT-ATP8 0 0 22 7 28 0 57
LOC130002899, SURF1 3 5 10 28 2 0 46
MT-ND3 4 1 17 7 12 4 41
NDUFV1 4 5 27 1 2 0 38
COX15, ENTPD7 0 0 28 4 3 0 35
SCO1 0 0 28 1 6 0 35
NDUFAF5 1 7 19 1 3 0 30
MT-ND4L 0 0 12 6 7 0 25
NDUFS4 8 3 10 1 3 0 25
NDUFS8 0 3 21 0 1 0 25
MT-ATP6, MT-ATP8 0 0 3 8 13 0 24
BCS1L 1 1 16 1 3 0 22
NDUFAF2 4 2 13 1 2 0 22
NDUFS3 0 0 22 0 0 0 22
NDUFS7 1 1 18 0 2 0 22
LOC126861242, NDUFV1 3 2 11 0 1 0 17
LOC112529895, SCO1 0 0 11 2 1 0 14
COX15, CUTC 0 0 10 0 2 0 12
LRPPRC 0 0 11 0 1 0 12
LOC129935473, NDUFS1 0 0 7 1 2 0 10
LOC129993885, NDUFS4 0 0 7 1 2 0 10
FOXRED1 3 2 3 0 0 0 8
GAMT, NDUFS7 0 0 0 7 0 0 7
LOC130006217, NDUFV1 0 1 4 1 1 0 7
NDUFAF6 2 1 3 0 0 0 6
COX10, LOC105943586 0 0 2 1 2 0 5
FBXL4 1 4 0 0 0 0 5
LOC130065433, NDUFAF5 0 1 3 0 0 1 5
ERCC8, NDUFAF2 0 0 1 1 2 0 4
IARS2 2 1 1 0 0 0 4
LOC112081413, NDUFS8 0 0 2 0 1 0 3
LOC113788297, NDUFAF6 0 0 3 0 0 0 3
MRPL39 1 3 0 0 0 0 3
MT-TW 1 0 0 0 0 3 3
BCS1L, LOC129935609 0 0 2 0 0 0 2
COX15, LOC130004506 0 1 1 0 0 0 2
ECHS1, LOC130005023 0 2 0 0 0 0 2
FASTKD2, LOC126806484 2 0 0 0 0 0 2
MT-TK 1 0 0 0 0 2 2
MT-TV 1 0 0 0 0 2 2
NDUFA12 0 0 2 0 0 0 2
NDUFA9 0 0 2 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
VPS13D 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 1
ATP5PO, LOC126653351 0 1 0 0 0 0 1
COX10, COX10-DT 0 0 1 0 0 0 1
COX10, LOC130060303 0 0 0 0 1 0 1
DLD, LAMB1 0 0 0 0 1 0 1
ECHS1 0 1 0 0 0 0 1
EME2, LOC130058184, MRPS34 0 1 0 0 0 0 1
FASTKD2 1 0 0 0 0 0 1
FOXRED1, LOC130007026 0 0 1 0 0 0 1
GYG2 0 0 0 0 0 1 1
HTRA2 0 0 1 0 0 0 1
HTRA2, LOXL3 0 0 1 0 0 0 1
LOC130058183, MRPS34 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1 1
MT-CO1, MT-TS1 0 0 0 0 1 0 1
MT-TL1 0 0 0 0 0 1 1
MTFMT 1 0 0 0 0 0 1
NDUFA2, TMCO6 0 0 1 0 0 0 1
PYROXD2 0 0 1 0 0 0 1
TIMMDC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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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 Laboratory Services, Illumina 0 1 619 76 148 0 844
Invitae 83 6 170 309 12 0 580
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 43 33 0 0 0 0 76
GeneReviews 1 0 0 0 0 36 37
Baylor Genetics 1 3 28 0 0 0 32
Natera, Inc. 0 1 22 1 3 0 27
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 1 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 2 0 0 0 5
Mitochondrial Research Group, Murdoch Children's Research Institute 2 2 1 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
Pediatric Department, Xiangya Hospital, Central South University 2 1 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 2 0 0 0 4
3billion 4 0 0 0 0 0 4
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
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 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
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
MGZ Medical Genetics Center 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Genetics of Mitochondrial Diseases, Imagine Institute 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 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
Breda Genetics srl 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1

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