ClinVar Miner

Variants studied for congenital myasthenic syndrome

Included ClinVar conditions (47):
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 not provided total
383 108 2613 983 396 3 4323

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGRN 21 5 524 233 71 1 850
DOK7 41 11 198 64 24 0 333
GFPT1 19 8 173 43 32 0 269
CHAT 21 9 152 60 26 1 263
LRP4 3 1 150 71 26 0 249
MUSK 12 7 163 43 27 0 229
RAPSN 34 8 126 72 16 0 229
COLQ 33 11 135 22 21 0 212
CHRNE 36 16 96 64 23 0 209
PREPL 18 7 123 46 11 0 204
C17orf107, CHRNE 44 9 78 76 6 0 192
CHRNB1 11 2 114 48 19 0 176
SLC5A7 5 1 107 43 6 0 159
GH-LCR, SCN4A 7 1 110 6 35 0 158
ALG2 3 1 74 28 8 0 113
DPAGT1 8 1 54 26 3 0 90
CHRND 10 0 61 4 8 0 82
CHRNA1 16 1 38 4 5 0 64
SCN4A 4 1 45 5 12 0 64
ALG14 2 1 29 7 3 0 42
SNAP25 1 3 21 10 3 0 38
PREPL, SLC3A1 8 0 7 4 1 0 20
CHRNE, MINK1 0 0 9 1 7 0 17
COL13A1 4 2 5 0 0 0 11
MYO9A 5 0 6 0 0 0 11
CHAT, SLC18A3 2 0 5 0 1 0 7
SYT2 2 0 3 0 0 0 5
TAPBPL, VAMP1 5 0 0 0 0 0 5
CHRND, CHRNG 0 0 0 2 2 0 4
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 1 0 1 0 0 0 2
C17orf107, CHRNE, GP1BA, PFN1, RNF167, SLC25A11 1 0 1 0 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 2
RYR1 0 0 2 0 0 0 2
SLC25A1 2 0 0 0 0 0 2
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, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, RNF223, SCNN1D, SDF4, SNORD167, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 1 0 0 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 1
DPAGT1, HMBS 0 0 0 1 0 1 1
FAT1 0 1 0 0 0 0 1
GMPPB 1 0 0 0 0 0 1
LAMA5 0 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 206 54 1946 921 250 0 3377
Illumina Clinical Services Laboratory,Illumina 1 3 605 61 159 0 829
OMIM 151 0 0 0 0 0 151
Natera, Inc. 10 1 65 15 21 0 112
Baylor Genetics 15 7 52 0 0 0 74
Fulgent Genetics,Fulgent Genetics 5 3 24 0 0 0 32
GeneReviews 21 0 0 0 0 0 21
Athena Diagnostics Inc 0 0 0 0 16 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 12 1 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 9 0 0 0 14
Mendelics 3 2 0 1 4 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 3 0 0 0 0 8
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 6 1 1 0 0 0 8
Institute of Human Genetics, Klinikum rechts der Isar 4 2 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 3 2 1 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 2 2 0 0 0 4
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
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
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

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