ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (59):
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
202 79 1034 136 38 3 11 1483

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DYNC1H1 3 8 223 52 6 0 0 291
IGHMBP2 28 13 145 15 1 0 0 197
TRPV4 11 5 114 11 3 0 1 142
LRSAM1 14 7 99 11 7 0 2 138
DNM2 7 5 97 6 1 0 0 116
MORC2 4 3 95 7 3 0 1 110
NEFL 13 1 63 7 0 0 0 84
TRIM2 5 1 44 5 1 0 0 55
HSPB1 12 6 30 2 0 0 0 49
MARS1 2 0 38 8 0 0 0 48
MFN2 22 14 5 1 0 0 0 40
HSPB8 2 0 24 2 0 0 1 29
NAGLU 6 3 12 0 0 0 0 20
GDAP1 14 1 3 0 1 0 0 19
MPZ 11 2 1 0 2 0 1 17
GARS1 5 1 4 0 4 0 1 15
AARS1 2 1 3 4 4 0 1 14
SPG11 8 1 5 0 0 0 0 14
LMNA 4 0 5 0 2 0 2 13
MME 5 2 3 0 0 3 0 13
HARS1 5 2 3 0 0 0 0 10
RAB7A 4 0 1 4 1 0 0 10
DHTKD1 1 2 2 0 0 0 1 6
ATP1A1 5 0 0 0 0 0 0 5
MED25 1 0 2 0 1 0 0 4
KIF1B 1 0 2 0 0 0 0 3
LOC112872299, RAB7A 0 0 3 0 0 0 0 3
NEFH 2 1 0 0 0 0 0 3
ARHGAP9, MARS1 0 0 1 1 0 0 0 2
DNM2, MIR638 0 0 2 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
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
MARS1, MIR6758 0 0 1 0 0 0 0 1
PMP22 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 67 29 965 125 13 0 0 1199
OMIM 112 0 0 0 0 3 0 115
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 6 0 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 11 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 3 2 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
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
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 0 5
Baylor Genetics 4 0 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 0 4
Department of Medical Genetics,Oslo University Hospital 0 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 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
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 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
The Genetics Institute,Rambam Health Care Campus 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 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
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

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