ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
572 122 2263 903 494 3 8 4226

Gene and significance breakdown #

Total genes and gene combinations: 98
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SH3TC2 38 11 416 93 37 0 0 572
DYNC1H1 2 5 163 144 67 0 0 378
PRX 19 1 185 64 32 0 0 277
IGHMBP2 25 12 101 37 29 0 0 198
FGD4 16 2 120 41 23 0 0 190
SBF2 9 2 129 43 15 0 0 187
PLEKHG5 6 1 97 37 23 0 0 164
TRPV4 11 3 84 29 29 0 0 154
INF2 7 2 78 35 28 0 0 150
FIG4 15 1 73 42 13 0 0 132
LRSAM1 10 6 75 28 15 0 2 132
DNM2 10 5 59 30 19 0 0 122
MTMR2 11 3 69 28 22 0 0 120
MFN2 27 15 37 32 2 0 0 110
NDRG1 5 0 64 32 10 0 0 105
MORC2 3 1 59 20 12 0 0 94
NEFL 18 1 41 15 10 0 0 84
GDAP1 31 4 35 11 3 0 0 83
MPZ 57 3 10 8 5 0 1 82
LOC101928008, SBF2 3 0 52 12 5 0 0 67
MARS 2 0 29 15 12 0 0 58
SLC25A46 10 3 26 10 6 0 0 55
HSPB1 9 7 23 9 5 0 0 52
YARS 4 1 32 7 5 0 0 49
GJB1 44 4 0 0 0 0 0 48
TRIM2 5 1 22 17 3 0 0 47
PMP22 19 1 12 13 1 0 0 44
LITAF 10 0 19 8 4 0 0 41
TFG 2 0 22 6 10 0 0 40
GNB4 3 1 17 8 6 0 0 34
HSPB8 4 0 19 6 4 0 1 34
PDK3 1 0 10 6 3 0 0 20
HINT1 8 2 5 1 2 0 0 18
ARHGEF10 1 1 5 3 7 0 0 17
LMNA 8 1 5 0 2 0 0 16
GARS 5 1 3 0 5 0 1 15
NAGLU 3 1 7 1 3 0 0 14
AARS 3 1 3 4 2 0 1 13
MME 5 2 3 0 0 3 0 13
OPA1 9 1 3 0 0 0 0 13
RAB7A 4 0 1 5 3 0 0 13
SPG11 8 0 5 0 0 0 0 13
FBLN5 10 1 1 0 0 0 0 11
ATP1A3 5 3 2 0 0 0 0 10
HARS 5 2 3 0 0 0 0 10
EGR2 8 0 1 0 0 0 0 9
SBF1 4 2 2 0 0 0 0 7
SURF1 5 0 1 0 0 0 1 7
DHTKD1 1 2 2 0 0 0 1 6
PRPS1 6 0 0 0 0 0 0 6
ATP1A1 5 0 0 0 0 0 0 5
KARS 2 0 1 0 2 0 0 5
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 0 4
CTDP1 1 0 0 0 3 0 0 4
HK1 2 1 1 0 0 0 0 4
KIF1B 1 1 2 0 0 0 0 4
MED25 1 0 2 0 1 0 0 4
AIFM1, RAB33A 1 1 1 0 0 0 0 3
ARHGAP9, MARS 0 0 1 2 0 0 0 3
DNAJB2 3 0 0 0 0 0 0 3
GAN 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
SETX 0 0 3 0 0 0 0 3
DNM2, MIR638 0 0 2 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
NEFH 2 0 0 0 0 0 0 2
PTRH2 2 0 0 0 0 0 0 2
S100PBP, YARS 0 0 1 0 1 0 0 2
VCP 2 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
A3GALT2, ADPRHL2, 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, YARS, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5 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
DCTN1 0 0 1 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, 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
LAMA2 0 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 1
MARS, MIR6758 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
POLG 0 0 1 0 0 0 0 1
SCYL1 0 1 0 0 0 0 0 1
SEMA5A 0 0 1 0 0 0 0 1
SEPTIN9 0 0 1 0 0 0 0 1
SLC12A6 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 121 44 1543 698 394 0 0 2800
Illumina Clinical Services Laboratory,Illumina 1 0 663 198 65 0 0 926
OMIM 314 0 0 0 0 3 0 317
GeneReviews 150 0 0 0 0 0 0 150
Fulgent Genetics 21 6 48 0 0 0 0 75
Athena Diagnostics Inc 37 3 0 0 27 0 0 67
Dept. of Medical Genetics, Telemark Hospital Trust 4 6 18 0 1 0 0 29
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 6 14 0 0 0 0 25
Institute of Human Genetics,Cologne University 10 5 7 0 0 0 0 22
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 8 0 0 16
Baylor Miraca Genetics Laboratories, 14 0 1 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
UCLA Clinical Genomics Center, UCLA 3 4 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology 4 1 2 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
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,University of Goettingen 3 0 1 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 2 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 3 1 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 3 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
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
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
Mendelics 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 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
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
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
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 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
Inherited Neuropathy Consortium 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1

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