ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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
949 333 7835 3094 1182 3 18 12607

Gene and significance breakdown #

Total genes and gene combinations: 140
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DYNC1H1 8 11 577 466 100 0 1 1093
SH3TC2 65 24 726 223 126 0 0 1090
PRX 41 12 515 177 37 0 0 720
IGHMBP2 49 21 319 144 50 0 0 543
SBF2 16 10 347 122 27 0 0 500
INF2 16 4 301 129 43 0 0 488
TRPV4 13 8 277 136 47 0 1 449
DNM2 14 6 265 125 58 0 0 445
GJB1 64 16 357 11 7 0 0 419
PLEKHG5 20 1 265 98 25 0 1 406
LRSAM1 21 19 244 106 29 0 2 392
FGD4 24 3 245 62 55 0 0 369
FIG4 37 6 233 93 27 0 0 365
MFN2 30 28 237 47 47 0 0 347
NDRG1 11 7 198 110 21 0 0 316
GDAP1 53 11 206 46 22 0 0 305
MORC2 5 3 193 72 17 0 1 284
MPZ 69 17 204 16 14 0 2 271
NEFL 26 7 174 57 25 0 0 269
MTMR2 26 7 162 53 33 0 0 262
NAGLU 45 11 38 102 11 0 0 206
HSPB1 24 6 110 50 13 0 0 181
LOC101928008, SBF2 5 3 123 41 8 0 0 171
YARS1 5 1 116 36 21 0 0 170
MARS1 4 0 89 56 16 0 0 158
PMP22 25 10 103 19 12 0 1 155
SLC25A46 13 7 95 27 7 0 0 147
TRIM2 4 1 89 49 3 0 0 145
LITAF 11 3 97 24 23 0 0 141
KIF1B 2 1 52 44 30 0 0 127
GARS1 8 4 58 41 25 0 1 126
TFG 4 1 73 37 9 0 1 124
AARS1 3 1 71 22 24 0 1 113
LMNA 10 3 52 32 12 0 2 109
HSPB8 4 0 76 14 14 0 2 105
GNB4 3 4 52 27 6 0 0 88
RAB7A 6 0 53 18 17 0 0 88
MED25 1 3 22 39 11 0 0 74
FBLN5 11 1 33 10 12 0 0 63
SBF1 4 7 22 13 18 0 0 62
EGR2 8 0 34 18 7 0 0 61
HINT1 16 3 34 2 4 0 0 57
PDK3 1 0 34 17 6 0 0 56
SPTLC1 2 0 20 9 7 0 0 37
ARHGEF10 1 1 15 4 13 0 0 32
NTRK1 0 0 29 1 0 0 0 30
S100PBP, YARS1 0 0 13 1 15 0 0 29
TTR 5 2 7 10 5 0 0 29
AIFM1, RAB33A 4 1 6 9 6 0 0 25
DNAJB2 3 0 7 14 3 0 0 25
MME 7 3 6 0 0 3 0 19
OPA1 10 2 6 0 0 0 0 18
SEPTIN9 0 0 18 0 0 0 0 18
ATP1A3 7 6 3 0 0 0 0 16
SPG11 9 1 6 0 0 0 0 16
SCYL1 7 2 3 0 0 0 0 12
SURF1 9 0 2 0 0 0 1 12
DHTKD1 2 3 4 0 0 0 1 10
HARS1 5 2 3 0 0 0 0 10
LOC112872299, RAB7A 0 0 6 4 0 0 0 10
SLC12A6 0 0 9 0 0 0 0 9
SCN11A 0 0 8 0 0 0 0 8
SETX 0 0 8 0 0 0 0 8
ATP1A1 5 2 0 0 0 0 0 7
KARS1 2 0 3 0 2 0 0 7
ARHGAP9, MARS1 0 0 3 3 0 0 0 6
CTDP1 1 0 0 1 4 0 0 6
HK1 2 2 2 0 0 0 0 6
PRPS1 6 0 0 0 0 0 0 6
GAN 0 0 5 0 0 0 0 5
NEFH 2 1 2 0 0 0 0 5
PTRH2 4 1 0 0 0 0 0 5
RETREG1 0 0 5 0 0 0 0 5
WNK1 0 0 5 0 0 0 0 5
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 0 4
DCTN1 0 1 3 0 0 0 0 4
DNM2, MIR638 0 0 2 2 0 0 0 4
DNMT1 0 0 4 0 0 0 0 4
MPV17 3 3 0 0 0 0 0 4
COX6A1 3 0 0 0 0 0 0 3
DMXL2 1 0 2 0 0 0 0 3
ELP1 0 0 3 0 0 0 0 3
LOC114004390, SH3TC2 1 0 2 0 0 0 0 3
MIR4497, TRPV4 0 0 3 0 0 0 0 3
MPZ, SDHC 0 1 0 0 2 0 0 3
NGF 0 0 3 0 0 0 0 3
PDXK 2 1 0 0 0 0 0 3
PMP2 3 1 0 0 0 0 0 3
PNKP 2 1 0 0 0 0 0 3
REEP1 0 0 3 0 0 0 0 3
ARF1 0 0 2 0 0 0 0 2
ATL1 0 0 2 0 0 0 0 2
ATP7A 0 0 2 0 0 0 0 2
BICD2 0 0 2 0 0 0 0 2
BSCL2, HNRNPUL2-BSCL2 0 1 1 0 0 0 0 2
DCAF8 1 0 1 0 0 0 0 2
DNM2, MIR6793 0 0 0 1 1 0 0 2
DST 0 1 1 0 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 0 2
MARS1, MIR6758 0 0 1 1 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 0 2
MIR6841, NEFL 0 0 0 1 1 0 0 2
PLD3, PRX 0 1 2 0 1 0 0 2
POLR2F, SOX10 0 0 2 0 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 0 2
VCP 2 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
A3GALT2, ADPRS, AGO1, AGO3, AGO4, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf109, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP57, CITED4, CLDN19, CLSPN, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, FAM183A, FHL3, FNDC5, FOXJ3, FOXO6, GJA4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, LSM10, MACF1, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MMACHC, MPL, MRPS15, MTF1, MUTYH, MYCBP, MYCL, NASP, NCDN, NDUFS5, NFYC, NT5C1A, OSCP1, OXCT2, P3H1, PABPC4, PHC2, PIK3R3, PLK3, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PSMB2, PTCH2, PTPRF, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RPS8, RRAGC, RSPO1, S100PBP, SCMH1, SF3A3, SFPQ, SH3D21, SLC2A1, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, ST3GAL3, STK40, SVBP, SZT2, TEKT2, TESK2, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TOE1, TRAPPC3, TRIM62, TRIT1, TSPAN1, UROD, UTP11, YARS1, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5 0 0 1 0 0 0 0 1
ACAD9, CFAP92, LOC112872299, MIR12124, RAB7A 0 0 1 0 0 0 0 1
BAG3 0 1 0 0 0 0 0 1
CACNA1S 0 0 0 1 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 1
CLCN1 0 0 1 0 0 0 0 1
CNTNAP2 0 0 1 0 0 0 0 1
DCTN2 0 0 1 0 0 0 0 1
DNM1L, FGD4 0 0 1 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
FBXO38 0 1 0 0 0 0 0 1
HADHB 0 0 1 0 0 0 0 1
IFRD1 0 0 1 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 1
LAMA2 0 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 1
MED25, MIR6800 0 0 0 1 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 1
MT-TV 1 0 0 0 0 0 0 1
MTRFR 0 1 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 0 1
POLG 0 0 1 0 0 0 0 1
PPP6R2 1 0 0 0 0 0 0 1
SEMA5A 0 0 1 0 0 0 0 1
SLC5A7 0 0 1 0 0 0 0 1
SPTLC2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 397 101 4571 2159 511 0 0 7739
Illumina Clinical Services Laboratory,Illumina 3 0 1533 362 671 0 0 2555
Molecular Genetics Laboratory,London Health Sciences Centre 62 57 642 833 320 0 0 1914
Inherited Neuropathy Consortium 45 19 1089 4 1 0 0 1158
OMIM 331 0 1 0 0 3 0 335
Genesis Genome Database 0 0 230 0 0 0 0 230
GeneReviews 143 0 0 0 0 0 0 143
Baylor Genetics 42 10 77 0 0 0 0 129
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 4 22 31 50 0 0 109
Fulgent Genetics,Fulgent Genetics 21 6 48 0 0 0 0 75
Natera, Inc. 5 0 43 10 6 0 0 64
Centre for Mendelian Genomics,University Medical Centre Ljubljana 10 13 33 1 1 0 0 58
Mendelics 11 15 13 6 12 0 0 57
Athena Diagnostics Inc 26 3 0 0 25 0 0 54
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 6 19 0 0 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 8 6 14 0 0 0 0 28
Institute of Human Genetics,Cologne University 11 7 9 0 0 0 0 27
Dept. of Medical Genetics, Telemark Hospital Trust 4 6 17 0 1 0 0 27
CMT Laboratory,Bogazici University 21 4 2 0 0 0 0 27
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 12 0 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 21 0 0 21
Institute of Human Genetics, Klinikum rechts der Isar 13 7 0 0 0 0 0 20
GenomeConnect, ClinGen 0 0 0 0 0 0 18 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 8 0 0 16
Kariminejad - Najmabadi Pathology & Genetics Center 6 4 6 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 0 12
Clinical Genetics laboratory, University of Goettingen 3 3 4 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 3 0 0 0 0 8
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 3 2 3 0 0 0 0 8
UCLA Clinical Genomics Center, UCLA 3 4 0 0 0 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 3 2 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 0 6
Northcott Neuroscience Laboratory, ANZAC Research Institute 6 0 0 0 0 0 0 6
Undiagnosed Diseases Network,NIH 3 1 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 1 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 4 1 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 4 1 0 0 0 0 0 5
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 4 0 0 0 0 4
Cirak Lab,University Hospital Cologne 4 0 0 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 2 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 1 0 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 2 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 3 0 0 0 0 3
Antonellis Laboratory at Michigan,University of Michigan 0 0 3 0 0 0 0 3
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1 2 0 0 0 0 0 3
Section for Clinical Neurogenetics,University of Tübingen 0 2 1 0 0 0 0 3
Nilou-Genome Lab 0 0 0 0 3 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 0 2
Molecular Genetics and RNA Biology,University of Milan 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Neurology Department,Peking University First Hospital 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 2 0 0 0 0 0 0 2
Neuromuscular Group,Huashan Hospital, Fudan University 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 0 0 2
Paris Brain Institute,Inserm - ICM 2 0 0 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs,University of Bari 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 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
Division of Genomics,Kyushu university 0 1 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 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
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
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 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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