ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (56):
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
181 58 719 363 224 3 6 1536

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DYNC1H1 2 4 163 144 67 0 0 377
IGHMBP2 22 12 101 37 29 0 0 197
TRPV4 11 3 84 29 29 0 0 154
LRSAM1 10 6 75 28 15 0 2 132
DNM2 7 4 59 30 19 0 0 119
MORC2 3 1 59 20 12 0 0 94
NEFL 12 1 41 15 10 0 0 79
MARS 2 0 29 15 12 0 0 58
HSPB1 8 7 23 9 5 0 0 51
TRIM2 5 1 22 17 3 0 0 47
HSPB8 2 0 19 6 4 0 1 32
MFN2 22 8 1 0 0 0 0 31
GDAP1 14 0 1 0 1 0 0 16
MPZ 10 2 1 0 2 0 0 15
GARS 5 1 3 0 4 0 1 14
NAGLU 3 1 7 1 3 0 0 14
RAB7A 4 0 1 5 3 0 0 13
SPG11 8 0 5 0 0 0 0 13
MME 5 2 2 0 0 3 0 12
AARS 2 1 2 4 2 0 1 11
HARS 5 2 3 0 0 0 0 10
LMNA 4 0 4 0 2 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
ARHGAP9, MARS 0 0 1 2 0 0 0 3
KIF1B 1 0 2 0 0 0 0 3
LOC112872299, RAB7A 0 0 3 0 0 0 0 3
DNM2, MIR638 0 0 2 0 0 0 0 2
NEFH 2 0 0 0 0 0 0 2
VCP 2 0 0 0 0 0 0 2
DCAF8 1 0 0 0 0 0 0 1
DNAJB2 1 0 0 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
MARS, MIR6758 0 0 0 1 0 0 0 1
PMP22 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 48 22 669 359 208 0 0 1306
OMIM 112 0 0 0 0 3 0 115
Fulgent Genetics 12 4 36 0 0 0 0 52
Athena Diagnostics Inc 12 2 0 0 10 0 0 24
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 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 4 0 2 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
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 Miraca Genetics Laboratories, 4 0 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 0 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
Neurology Department,Peking University First Hospital 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 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
Mendelics 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
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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