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
836 278 6801 2083 1169 3 18 10477

Gene and significance breakdown #

Total genes and gene combinations: 138
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SH3TC2 58 21 676 175 126 0 0 992
DYNC1H1 5 10 468 296 99 0 1 822
PRX 37 10 437 116 37 0 0 583
IGHMBP2 43 18 279 95 50 0 0 446
GJB1 60 13 352 10 6 0 0 410
SBF2 12 4 289 90 27 0 0 403
TRPV4 12 7 225 89 47 0 1 353
INF2 9 3 230 63 43 0 0 347
MFN2 30 27 230 47 47 0 0 340
DNM2 13 5 216 56 58 0 0 329
FGD4 21 3 218 49 55 0 0 326
LRSAM1 18 17 208 79 29 0 2 325
PLEKHG5 16 1 203 55 25 0 1 299
FIG4 30 5 198 66 27 0 0 298
GDAP1 44 10 189 34 22 0 0 273
MPZ 71 14 199 16 14 0 2 266
NDRG1 7 5 164 70 21 0 0 246
MTMR2 22 6 144 41 33 0 0 230
NEFL 24 6 148 38 25 0 0 224
MORC2 4 3 154 33 15 0 1 204
PMP22 25 9 102 19 12 0 1 154
HSPB1 22 7 95 37 13 0 0 153
LITAF 11 3 91 21 23 0 0 133
MARS1 2 0 77 43 16 0 0 132
YARS1 5 1 94 19 21 0 0 131
LOC101928008, SBF2 4 3 99 23 8 0 0 129
KIF1B 1 1 52 44 30 0 0 127
GARS1 7 3 57 41 25 0 1 123
SLC25A46 15 6 73 15 7 0 0 114
AARS1 3 1 69 22 24 0 1 111
TRIM2 5 1 76 27 3 0 0 111
LMNA 10 3 52 32 12 0 2 109
NAGLU 32 4 25 35 11 0 0 106
HSPB8 4 0 67 7 14 0 2 89
TFG 3 1 56 18 9 0 1 87
RAB7A 5 0 49 11 17 0 0 77
MED25 1 3 22 39 11 0 0 74
GNB4 3 4 45 12 6 0 0 67
FBLN5 11 1 33 10 12 0 0 63
EGR2 8 0 33 18 7 0 0 60
HINT1 11 3 28 1 4 0 0 46
PDK3 1 0 26 9 6 0 0 40
SPTLC1 2 0 20 9 7 0 0 37
SBF1 3 4 13 5 8 0 0 31
NTRK1 0 0 29 1 0 0 0 30
TTR 4 2 7 10 5 0 0 28
S100PBP, YARS1 0 0 12 0 15 0 0 27
ARHGEF10 1 1 9 4 12 0 0 26
AIFM1, RAB33A 4 1 6 9 6 0 0 25
DNAJB2 3 0 7 14 3 0 0 25
SEPTIN9 0 0 18 0 0 0 0 18
MME 5 3 5 0 0 3 0 16
ATP1A3 7 6 2 0 0 0 0 15
OPA1 10 1 4 0 0 0 0 15
SPG11 8 1 5 0 0 0 0 14
HARS1 5 2 3 0 0 0 0 10
SLC12A6 0 0 9 0 0 0 0 9
SURF1 5 0 1 0 2 0 1 9
LOC112872299, RAB7A 0 0 5 3 0 0 0 8
SCN11A 0 0 8 0 0 0 0 8
SCYL1 5 2 1 0 0 0 0 8
SETX 0 0 8 0 0 0 0 8
DHTKD1 1 2 3 0 0 0 1 7
KARS1 2 0 3 0 2 0 0 7
PRPS1 6 0 0 0 0 0 0 6
ARHGAP9, MARS1 0 0 3 2 0 0 0 5
ATP1A1 5 0 0 0 0 0 0 5
CTDP1 1 0 0 0 4 0 0 5
GAN 0 0 5 0 0 0 0 5
HK1 2 2 1 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
DNMT1 0 0 4 0 0 0 0 4
RETREG1 0 0 4 0 0 0 0 4
DNM2, MIR638 0 0 2 1 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
MPV17 3 1 0 0 0 0 0 3
MPZ, SDHC 0 1 0 0 2 0 0 3
NEFH 2 1 0 0 0 0 0 3
NGF 0 0 3 0 0 0 0 3
PDXK 3 0 0 0 0 0 0 3
PMP2 3 1 0 0 0 0 0 3
PTRH2 3 0 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
DST 0 1 1 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
PNKP 2 0 0 0 0 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, KCNQ3, LRRC6, 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
COX6A1 1 0 0 0 0 0 0 1
DCAF8 1 0 0 0 0 0 0 1
DCTN2 0 0 1 0 0 0 0 1
DMXL2 1 0 0 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
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
FBXO38 0 1 0 0 0 0 0 1
GDAP1, JPH1, LY96, TMEM70 0 0 1 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
LOC101929524, RETREG1 0 0 1 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
MYH14 0 0 1 0 0 0 0 1
POLG 0 0 1 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: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 307 79 3613 1126 511 0 0 5636
Illumina Clinical Services Laboratory,Illumina 3 0 1532 362 671 0 0 2554
Molecular Genetics Laboratory,London Health Sciences Centre 61 57 642 833 320 0 0 1913
Inherited Neuropathy Consortium 45 19 1090 4 1 0 0 1159
OMIM 331 0 1 0 0 3 0 335
Genesis Genome Database 0 0 230 0 0 0 0 230
GeneReviews 150 0 0 0 0 0 0 150
Fulgent Genetics,Fulgent Genetics 21 6 48 0 0 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 3 14 14 31 0 0 63
Athena Diagnostics Inc 31 3 0 0 27 0 0 61
Mendelics 11 15 13 6 12 0 0 57
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 6 19 0 0 0 0 30
Dept. of Medical Genetics, Telemark Hospital Trust 4 6 17 0 1 0 0 27
Institute of Human Genetics,Cologne University 12 5 8 0 0 0 0 25
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 12 0 0 0 0 0 20
Baylor Genetics 15 2 1 0 0 0 0 18
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
Institute of Human Genetics, University of Leipzig Medical Center 2 4 6 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 0 12
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
Mayo Clinic Genetic Testing 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 2 0 0 0 0 6
Institute of Human Genetics,University of Goettingen 3 1 1 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 3 0 0 0 0 0 5
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
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
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: University of Minnesota 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
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
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
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
Johns Hopkins Genomics,Johns Hopkins University 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
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1

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