ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (132):
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
679 187 4243 465 174 3 16 5507

Gene and significance breakdown #

Total genes and gene combinations: 128
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SH3TC2 50 16 500 63 13 0 0 621
GJB1 56 9 340 1 0 0 0 382
PRX 27 2 271 28 9 0 0 325
DYNC1H1 3 10 241 52 6 0 0 308
MFN2 29 23 189 34 2 0 0 256
MPZ 68 5 170 8 6 0 2 226
IGHMBP2 31 13 173 15 1 0 0 219
FGD4 17 2 151 32 16 0 0 211
SBF2 10 2 168 27 10 0 0 211
INF2 7 2 146 15 5 0 0 175
PLEKHG5 9 1 135 10 4 0 1 159
FIG4 20 2 111 24 6 0 0 154
TRPV4 11 5 126 11 3 0 1 151
MTMR2 17 4 100 20 13 0 0 148
LRSAM1 14 7 106 11 7 0 2 144
GDAP1 38 8 104 2 1 0 0 135
DNM2 10 7 103 6 1 0 0 123
MORC2 4 3 105 7 3 0 1 117
PMP22 21 2 83 13 1 0 1 114
NDRG1 5 2 79 18 5 0 0 107
NEFL 19 3 77 7 0 0 0 102
LOC101928008, SBF2 3 2 60 7 1 0 0 72
SLC25A46 12 5 43 4 2 0 0 65
HSPB1 15 6 48 2 0 0 0 63
YARS1 5 1 48 3 2 0 0 56
TRIM2 5 1 44 5 1 0 0 55
LITAF 10 2 43 2 2 0 0 53
MARS1 2 0 38 8 0 0 0 48
AARS1 3 1 34 4 4 0 1 45
TFG 2 1 33 2 2 0 1 40
GARS1 7 2 25 1 5 0 1 36
GNB4 3 1 24 5 2 0 0 34
HSPB8 4 0 28 2 0 0 1 34
SBF1 4 3 13 5 8 0 0 31
NTRK1 0 0 29 1 0 0 0 30
HINT1 9 3 14 0 1 0 0 27
ARHGEF10 1 1 9 4 12 0 0 26
LMNA 8 1 11 0 2 0 2 24
KIF1B 1 1 19 0 0 0 0 21
NAGLU 6 3 12 0 0 0 0 20
EGR2 8 0 14 0 1 0 0 18
SEPTIN9 0 0 18 0 0 0 0 18
PDK3 1 0 14 1 1 0 0 17
ATP1A3 6 6 2 0 0 0 0 14
MME 5 2 4 0 0 3 0 14
SPG11 8 1 5 0 0 0 0 14
OPA1 9 1 3 0 0 0 0 13
FBLN5 11 1 2 0 0 0 0 12
RAB7A 4 0 7 4 1 0 0 12
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
SCN11A 0 0 8 0 0 0 0 8
SETX 0 0 8 0 0 0 0 8
KARS1 2 0 3 0 2 0 0 7
SCYL1 5 1 1 0 0 0 0 7
AIFM1, RAB33A 4 1 2 0 0 0 0 6
DHTKD1 1 2 2 0 0 0 1 6
PRPS1 6 0 0 0 0 0 0 6
SPTLC1 0 0 6 0 0 0 0 6
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
DNAJB2 3 0 3 0 0 0 0 4
DNMT1 0 0 4 0 0 0 0 4
MED25 1 0 2 0 1 0 0 4
RETREG1 0 0 4 0 0 0 0 4
ELP1 0 0 3 0 0 0 0 3
LOC112872299, RAB7A 0 0 3 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
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
ARHGAP9, MARS1 0 0 1 1 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
DNM2, MIR638 0 0 2 0 0 0 0 2
DST 0 1 1 0 0 0 0 2
LOC114004390, SH3TC2 1 0 1 0 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 0 2
PLD3, PRX 0 0 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, 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, TCTEX1D4, 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
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
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
MARS1, MIR6758 0 0 1 0 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
S100PBP, YARS1 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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 166 55 2205 238 29 0 0 2693
Inherited Neuropathy Consortium 45 19 1090 4 1 0 0 1159
Illumina Clinical Services Laboratory,Illumina 1 0 663 198 65 0 0 926
OMIM 322 0 0 0 0 3 0 325
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 6 6 18 0 0 0 0 30
Dept. of Medical Genetics, Telemark Hospital Trust 4 6 17 0 1 0 0 27
Molecular Genetics Laboratory,London Health Sciences Centre 1 0 23 0 0 0 0 24
Institute of Human Genetics,Cologne University 11 5 7 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 21 0 0 21
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 11 0 0 0 0 0 19
Baylor Genetics 15 2 1 0 0 0 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 8 0 0 16
Institute of Human Genetics,Klinikum rechts der Isar 10 6 0 0 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 0 16 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 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
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
Undiagnosed Diseases Network,NIH 3 0 2 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
SIB Swiss Institute of Bioinformatics 0 3 1 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
Department of Medical Genetics,Oslo University Hospital 0 3 0 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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 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
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
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
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
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
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1

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