ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
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
309 113 2495 1271 429 3 13 4489

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 8 9 551 399 87 0 1 1006
IGHMBP2 46 18 270 110 35 0 0 472
DNM2 11 4 259 125 58 0 0 438
TRPV4 13 6 253 115 44 0 1 411
LRSAM1 21 14 224 93 26 0 2 360
MORC2 5 3 185 72 17 0 1 279
NAGLU 45 11 38 102 11 0 0 206
NEFL 18 1 122 40 12 0 0 192
HSPB1 21 5 86 38 12 0 0 159
TRIM2 4 1 89 49 3 0 0 145
MARS1 4 0 72 33 14 0 0 122
GDAP1 15 1 65 8 15 0 0 104
HSPB8 3 0 72 14 14 0 2 101
AARS1 2 1 45 22 24 0 1 89
RAB7A 6 0 46 16 17 0 0 85
GARS1 6 3 32 16 24 0 1 81
LMNA 4 0 29 8 11 0 2 54
MFN2 23 16 11 1 0 0 0 48
MME 7 3 5 0 0 3 0 18
MPZ 11 2 1 0 2 0 1 17
SPG11 9 1 6 0 0 0 0 16
DHTKD1 2 3 4 0 0 0 1 10
HARS1 5 2 3 0 0 0 0 10
LOC112872299, RAB7A 0 0 6 3 0 0 0 9
ATP1A1 5 2 0 0 0 0 0 7
ARHGAP9, MARS1 0 0 3 3 0 0 0 6
MED25 1 2 3 0 1 0 0 6
NEFH 2 1 2 0 0 0 0 5
DNM2, MIR638 0 0 2 2 0 0 0 4
KIF1B 2 0 2 0 0 0 0 4
MPV17 3 3 0 0 0 0 0 4
MIR4497, TRPV4 0 0 3 0 0 0 0 3
PNKP 2 1 0 0 0 0 0 3
DCAF8 1 0 1 0 0 0 0 2
DNM2, MIR6793 0 0 0 1 1 0 0 2
MARS1, MIR6758 0 0 1 1 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
DNAJB2 1 0 0 0 0 0 0 1
DNM2, MIR4748, MIR638 0 0 1 0 0 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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 168 45 1987 1142 254 0 0 3596
Illumina Clinical Services Laboratory,Illumina 0 0 438 163 248 0 0 849
OMIM 118 0 1 0 0 3 0 122
Fulgent Genetics,Fulgent Genetics 12 4 36 0 0 0 0 52
Baylor Genetics 10 4 27 0 0 0 0 41
Mendelics 3 8 10 5 7 0 0 33
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 15 0 1 0 0 21
Athena Diagnostics Inc 9 2 0 0 8 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 6 9 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 3 4 7 0 0 0 0 14
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
Institute of Human Genetics,Cologne University 2 4 2 0 0 0 0 8
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
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
Clinical Genetics laboratory, University of Goettingen 0 2 3 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 1 0 0 5
Mayo Clinic 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
CMT Laboratory,Bogazici University 5 0 0 0 0 0 0 5
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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 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
Paris Brain Institute,Inserm - ICM 2 0 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
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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
Human Genetics Research Center,Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 1

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