ClinVar Miner

Variants studied for intermediate Charcot-Marie-Tooth disease

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
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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 not provided total
237 116 2292 2343 337 38 5134

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
INF2 22 12 595 753 124 1 1408
PLEKHG5 56 25 414 626 48 4 1159
DNM2 18 8 502 513 68 1 1063
GDAP1 66 31 225 94 18 4 405
YARS1 7 3 229 148 23 1 400
GNB4 3 4 122 109 13 1 248
MPZ 42 27 34 6 12 25 130
LOC126805688, YARS1 0 0 45 21 1 0 66
GDAP1, LOC130000622 9 3 26 20 5 0 62
DNM2, LOC130063529 0 0 30 22 0 0 52
S100PBP, YARS1 0 0 18 6 11 0 35
LOC126805598, PLEKHG5 2 0 8 13 5 0 27
GBF1 4 0 10 0 0 0 14
KARS1 3 0 5 1 2 0 11
NEFL 3 0 8 0 0 0 11
DNM2, LOC130063529, MIR638 0 0 2 5 0 0 7
INF2, LOC130056630 0 0 3 3 1 0 7
DNM2, MIR6793 0 0 0 3 2 0 5
LOC132088696, S100PBP, YARS1 0 0 1 0 4 0 5
COX6A1 1 1 1 0 0 0 2
DNM2, MIR199A1 0 0 2 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 2
MPZ, SDHC 0 1 1 0 0 0 2
SH3TC2 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
A3GALT2, ADPRS, AGO1, AGO3, AGO4, AIRIM, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP144, CFAP57, CITED4, CLDN19, CLSPN, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, 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 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42 0 0 1 0 0 0 1
ADSS1, INF2 0 0 1 0 0 0 1
CLCN1 0 0 1 0 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 0 1
GDAP1, JPH1, LOC126860420, LOC129390012, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70 0 0 1 0 0 0 1
HSPB1 0 0 0 0 0 1 1
IGHMBP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 158 40 1908 2297 249 0 4652
Fulgent Genetics, Fulgent Genetics 18 28 213 82 5 0 346
Illumina Laboratory Services, Illumina 0 0 141 18 110 0 265
OMIM 63 0 0 0 0 0 63
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 53 0 0 0 53
GeneReviews 3 0 0 0 0 24 27
Baylor Genetics 4 1 15 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 2 3 15 0 0 0 20
MGZ Medical Genetics Center 2 6 8 0 0 0 16
Genome-Nilou Lab 0 0 0 1 15 0 16
3billion, Medical Genetics 6 5 3 0 0 0 14
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
Mendelics 4 6 1 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 4 2 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 1 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 5 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 0 7
Institute of Human Genetics, Cologne University 4 0 2 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 5 0 0 0 0 6
Athena Diagnostics 5 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 0 5
CMT Laboratory, Bogazici University 4 0 1 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 1 2 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 3 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 2 0 1 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
Genesis Genome Database 0 0 2 0 0 0 2
DASA 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Division of Genomics, Kyushu university 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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