ClinVar Miner

Variants studied for congenital myasthenic syndrome

Included ClinVar conditions (56):
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
773 447 4886 4772 628 35 11122

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGRN 38 20 926 822 109 11 1891
LRP4 10 8 435 423 49 0 912
DOK7 79 30 295 465 42 2 891
CHAT 60 59 284 451 43 2 852
C17orf107, CHRNE 99 76 167 377 15 1 677
MUSK 48 23 259 341 43 3 676
RAPSN 79 24 199 330 19 3 611
PREPL 37 16 262 213 24 0 548
GFPT1 32 15 235 153 49 0 470
COLQ 59 54 206 126 34 0 449
SLC5A7 5 5 243 161 9 0 419
CHRNB1 19 10 214 122 27 1 372
CHRNE 43 27 106 151 21 1 319
ALG2 3 2 159 108 12 0 280
GH-LCR, SCN4A 11 4 181 40 35 4 269
DPAGT1 12 10 86 71 6 0 181
SNAP25 2 8 52 87 12 0 161
SCN4A 5 3 102 29 12 2 148
CHRND 12 4 71 6 8 0 99
CHRNE, LOC130060041 17 7 36 44 3 0 99
ALG14 3 0 56 29 4 0 91
CHRNE, LOC130060040 11 6 24 48 2 0 85
CHRNA1 16 5 47 5 9 0 81
PREPL, SLC3A1 10 1 29 23 3 0 66
DOK7, LOC129992118 3 1 26 25 3 0 57
AGRN, LOC126805576 1 1 26 22 3 2 54
DPAGT1, LOC126861360 5 2 22 27 0 0 54
COL13A1 9 8 14 0 8 0 38
DOK7, LOC126806951 2 2 12 18 2 0 35
AGRN, LOC129929077 1 1 13 20 0 0 34
ALG14, LOC129930989 0 0 14 13 1 0 27
MYO9A 5 2 18 0 3 0 26
AGRN, LOC129929078 1 1 12 10 1 1 24
SYT2 10 3 4 0 3 0 19
CHRNB1, LOC130060147 0 0 13 5 0 0 17
CHRNE, MINK1 0 0 9 1 7 0 17
CHAT, SLC18A3 2 1 9 0 1 0 11
TAPBPL, VAMP1 5 2 2 0 3 0 11
CHRND, CHRNG 0 0 0 2 2 0 4
LOC130005663, LRP4 0 0 1 3 0 0 4
SLC25A1 2 2 1 0 0 0 4
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 3
RYR1 0 0 3 0 0 0 3
ABCG4, C2CD2L, CBL, DPAGT1, DRC12, HINFP, NHERF4, NLRX1 1 0 1 0 0 0 2
C17orf107, CHRNE, MINK1 1 1 0 0 0 1 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 2
DPAGT1, HMBS 0 0 0 1 1 1 2
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BACC1, BCL6B, C17orf100, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMP23B, MRPL20, MXRA8, NADK, PRKCZ, PUSL1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, LINC01342, LINC01786, LOC100288175, LOC105378948, LOC106783496, LOC110599576, LOC112577469, LOC115801415, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, RNF223, SCNN1D, SDF4, SNORD167, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 1 0 0 0 0 0 1
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2 1 0 0 0 0 0 1
AGRN, B3GALT6, C1orf159, MIR200A, MIR200B, MIR429, RNF223, SDF4, TNFRSF18, TNFRSF4, TTLL10 0 0 1 0 0 0 1
AGRN, PERM1 1 0 0 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 0 1
ANKEF1, BMP2, BTBD3, CHGB, CRLS1, FERMT1, GPCPD1, HAO1, ISM1, JAG1, LAMP5, LRRN4, MCM8, MKKS, PAK5, PLCB1, PLCB4, SHLD1, SLX4IP, SNAP25, SPTLC3, TASP1, TMX4, TRMT6 0 1 0 0 0 0 1
ASL 1 0 0 0 0 0 1
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 0 1
C17orf107, CHRNE, GP1BA, LOC125177409, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, PFN1, RNF167, SLC25A11 0 0 1 0 0 0 1
C17orf107, CHRNE, GP1BA, PFN1, RNF167, SLC25A11 1 0 0 0 0 0 1
C17orf107, CHRNE, LOC125177409, LOC130060043 1 0 0 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, LOC122817721, LOC122817722, LOC126806301, LOC126806302, LOC126806303, LOC129388897, LOC129388898, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 1
CHRNE, LOC130060040, LOC130060041 1 0 0 0 0 0 1
FAT1 0 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1
LOC124310625, LOC126860730, MUSK 1 0 0 0 0 0 1
LOC124310625, MUSK 0 1 0 0 0 0 1
LOC130057457, MYO9A 0 0 1 0 0 0 1
MUSK, SVEP1, TXN, TXNDC8 0 0 1 0 0 0 1
PSMC3, RAPSN, SLC39A13 0 0 1 0 0 0 1
RANBP2 0 0 1 0 0 0 1
SLC22A5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 546 165 3945 4620 450 0 9726
Illumina Laboratory Services, Illumina 1 5 605 61 159 0 831
Fulgent Genetics, Fulgent Genetics 18 15 299 114 5 0 451
Baylor Genetics 87 150 68 0 0 0 304
Natera, Inc. 18 9 169 28 22 0 246
OMIM 163 0 0 0 0 0 163
Revvity Omics, Revvity 16 12 131 0 0 0 159
Genome-Nilou Lab 0 0 15 2 95 0 112
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 36 25 0 0 0 0 61
3billion 11 8 8 13 0 0 40
Neuberg Centre For Genomic Medicine, NCGM 2 7 22 0 0 0 31
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 9 9 0 0 0 22
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 4 13 0 0 0 22
GeneReviews 2 0 0 0 0 19 21
MGZ Medical Genetics Center 3 8 6 0 0 0 17
Mendelics 9 3 0 1 4 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 4 4 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 11 1 0 0 16
Athena Diagnostics 0 0 0 0 14 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 9 0 0 0 14
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 7 2 1 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Genetic Services Laboratory, University of Chicago 5 4 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 1 8 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 5 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 3 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 3 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 3 4 1 0 0 0 8
New York Genome Center 2 1 5 0 0 0 8
Solve-RD Consortium 0 8 0 0 0 0 8
Centogene AG - the Rare Disease Company 2 1 4 0 0 0 7
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 3 2 2 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 2 0 0 0 6
Undiagnosed Diseases Network, NIH 5 1 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 2 2 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 2 0 0 0 5
Ricardo Maselli Laboratory, University of California Davis 1 3 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 1 0 3
Counsyl 2 0 1 0 0 0 3
Mayo Muscle Lab, Mayo Clinic 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
University of Malaya Medical Center, University of Malaya 2 1 0 0 0 0 3
Genetic Diseases Diagnostic Center, Koc University Hospital 0 3 0 0 0 0 3
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 3 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Neuromuscular Disease Laboratory, Mayo Clinic College of Medicine 1 0 0 0 0 0 1
Department of Neurology, Children's Hospital of Fudan University 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
John Walton Muscular Dystrophy Research Centre, Newcastle University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Neurology Laboratory, The First Affiliated Hospital of Nanchang University 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 1
Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1

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