ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (61):
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 risk factor not provided total
269 92 2050 705 426 3 13 3442

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DYNC1H1 5 8 442 226 86 0 1 731
IGHMBP2 40 15 225 58 35 0 0 367
DNM2 10 3 210 56 58 0 0 322
TRPV4 12 5 199 66 44 0 1 310
LRSAM1 18 12 187 63 26 0 2 290
MORC2 4 3 146 33 15 0 1 199
NEFL 16 1 99 20 12 0 0 147
HSPB1 19 6 70 25 12 0 0 130
TRIM2 5 1 76 27 3 0 0 111
NAGLU 32 4 25 35 11 0 0 106
GDAP1 15 1 63 8 15 0 0 102
MARS1 2 0 57 20 14 0 0 93
AARS1 2 1 41 22 24 0 1 86
HSPB8 3 0 63 7 14 0 2 85
GARS1 5 2 31 16 24 0 1 78
RAB7A 5 0 42 8 17 0 0 72
LMNA 4 0 29 8 11 0 2 54
MFN2 23 16 6 1 0 0 0 43
MPZ 11 2 1 0 2 0 1 17
MME 5 3 4 0 0 3 0 15
SPG11 8 1 5 0 0 0 0 14
HARS1 5 2 3 0 0 0 0 10
DHTKD1 1 2 3 0 0 0 1 7
LOC112872299, RAB7A 0 0 5 2 0 0 0 7
MED25 1 2 3 0 1 0 0 6
ARHGAP9, MARS1 0 0 3 2 0 0 0 5
ATP1A1 5 0 0 0 0 0 0 5
DNM2, MIR638 0 0 2 1 0 0 0 3
KIF1B 1 0 2 0 0 0 0 3
MIR4497, TRPV4 0 0 3 0 0 0 0 3
MPV17 3 1 0 0 0 0 0 3
NEFH 2 1 0 0 0 0 0 3
MARS1, MIR6758 0 0 1 1 0 0 0 2
PNKP 2 0 0 0 0 0 0 2
VCP 2 0 0 0 0 0 0 2
ACAD9, CFAP92, LOC112872299, MIR12124, RAB7A 0 0 1 0 0 0 0 1
DCAF8 1 0 0 0 0 0 0 1
DNAJB2 1 0 0 0 0 0 0 1
DNM2, MIR4748, MIR638 0 0 1 0 0 0 0 1
DNM2, MIR6793 0 0 0 0 1 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 1
PMP22 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 134 35 1582 574 254 0 0 2579
Illumina Clinical Services Laboratory,Illumina 0 0 437 163 248 0 0 848
OMIM 116 0 1 0 0 3 0 120
Fulgent Genetics,Fulgent Genetics 12 4 36 0 0 0 0 52
Mendelics 3 8 10 5 7 0 0 33
Athena Diagnostics Inc 9 2 0 0 10 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 6 0 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
GeneReviews 9 0 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 4 0 0 7
Institute of Human Genetics,Cologne University 2 3 2 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 3 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 3 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 4 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 0 0 6
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 2 1 3 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 1 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 4 0 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 0 5
Baylor Genetics 4 0 0 0 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 1 1 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 3 0 0 0 0 0 0 3
Antonellis Laboratory at Michigan,University of Michigan 0 0 3 0 0 0 0 3
Institute of Human Genetics,University of Goettingen 0 1 1 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 0 2
Neurology Department,Peking University First Hospital 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 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 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 0 0 1

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