ClinVar Miner

Variants studied for arthrogryposis multiplex congenita

Included ClinVar conditions (55):
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 association not provided total
488 819 1472 1560 396 1 12 4613

Gene and significance breakdown #

Total genes and gene combinations: 106
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
DOK7 75 66 292 500 42 0 2 950
MUSK 49 28 234 353 42 0 3 697
RAPSN 80 53 185 345 18 0 1 638
NEB 67 341 56 17 47 0 0 516
UBA1 3 0 212 207 94 0 3 507
NEB, RIF1 39 157 17 1 13 0 0 224
VPS33B 22 20 116 8 14 1 0 179
SYNE1 8 6 36 21 32 0 2 105
VIPAS39 12 8 62 5 0 0 0 87
DOK7, LOC129992118 4 3 23 29 3 0 0 61
LOC126863253, UBA1 1 0 27 21 13 0 0 60
ZC4H2 26 11 15 0 1 0 1 52
GLE1, LOC101929270 6 10 29 3 6 0 0 50
PIEZO2 4 5 11 5 24 0 0 49
GLE1 2 10 27 4 5 0 0 45
DOK7, LOC126806951 1 3 11 19 2 0 0 36
LGI4 8 10 8 0 8 0 0 34
FKBP10 11 12 6 1 2 0 0 30
SCARF2 10 3 4 1 9 0 0 26
KIF14 2 11 6 2 3 0 0 24
ASCC1 15 6 4 0 1 0 0 23
TNNT3 0 0 15 5 0 0 0 20
RYR1 5 8 0 0 0 0 0 13
SLC35A3 0 0 9 2 2 0 0 13
TOR1A 4 5 3 1 1 0 0 13
TRIP4 6 5 1 1 1 0 0 13
NUP88 3 0 3 0 6 0 0 12
TNNI2 0 0 10 2 0 0 0 12
SCYL2 3 3 0 0 3 0 0 9
MYH3 0 0 4 3 0 0 0 6
LOC126859837, SYNE1 0 0 3 1 1 0 0 5
BLTP1 0 4 0 0 0 0 0 4
ADGRG6 3 0 0 0 0 0 0 3
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 0 3
ERGIC1 2 0 1 0 0 0 0 3
GLDN 0 3 1 0 0 0 0 3
GLE1, LOC130002710 0 0 3 0 0 0 0 3
NALCN 0 3 0 0 0 0 0 3
TPM2 0 0 1 2 0 0 0 3
ACTA1 1 1 0 0 0 0 0 2
ASAH1 0 2 0 0 0 0 0 2
ASPM 1 1 0 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 0 2
EARS2 0 2 0 0 0 0 0 2
ECEL1 0 0 2 0 0 0 0 2
FBN1 1 0 1 0 0 0 0 2
INE1, UBA1 0 0 2 0 0 0 0 2
LOC126862474, NUP88 0 0 1 0 1 0 0 2
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 2 0 0 0 0 0 0 2
ROR2 0 2 0 0 0 0 0 2
SPAG16 0 0 2 0 0 0 0 2
VPS13D 0 0 2 0 0 0 0 2
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 1
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2 1 0 0 0 0 0 0 1
ADSS1 1 0 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 0 1
AVEN, RYR3 0 0 1 0 0 0 0 1
AVEN, RYR3, RYR3-DT 0 0 1 0 0 0 0 1
BICD2 0 1 0 0 0 0 0 1
CHRND 0 1 0 0 0 0 0 1
CHRNG 0 1 0 0 0 0 0 1
CNTNAP1 0 1 0 0 0 0 0 1
CNTNAP1, LOC125177481 1 0 0 0 0 0 0 1
COL1A2 0 1 0 0 0 0 0 1
DOCK7 0 1 0 0 0 0 0 1
DQX1 0 0 1 0 0 0 0 1
ESR1, SYNE1 1 0 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 1
F9, FGF13, MCF2 0 0 1 0 0 0 0 1
FBLN1 0 0 1 0 0 0 0 1
FBN2 0 1 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 1
GBE1 0 1 0 0 0 0 0 1
GCN1 0 0 1 0 0 0 0 1
GFRA4 0 0 1 0 0 0 0 1
IQSEC3 0 0 1 0 0 0 0 1
IQSEC3, LOC574538 0 0 1 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 1
LOC124310625, LOC126860730, MUSK 1 0 0 0 0 0 0 1
LOC124310625, MUSK 0 1 0 0 0 0 0 1
LOC126806373, NEB 0 1 0 0 0 0 0 1
LOC126862156, TRIP4 0 0 0 0 1 0 0 1
LOC129997480, SYNE1 0 0 0 1 0 0 0 1
LOC130002772, TOR1A 0 0 1 0 0 0 0 1
LOC130068210, UBA1 0 0 1 0 0 0 0 1
MAGI3 0 0 1 0 0 0 0 1
MUSK, SVEP1, TXN, TXNDC8 0 0 1 0 0 0 0 1
MYBPC1 0 0 1 0 0 0 0 1
MYOD1 1 0 0 0 0 0 0 1
NAGA 0 0 1 0 0 0 0 1
NUP88, RABEP1 0 0 0 0 1 0 0 1
PRG4 0 0 1 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 0 1
PSMC3, RAPSN, SLC39A13 0 0 1 0 0 0 0 1
SCN4A 0 1 0 0 0 0 0 1
SCN5A 0 1 0 0 0 0 0 1
SCN8A 0 1 0 0 0 0 0 1
SENP7 0 0 1 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 0 1
SETBP1 1 0 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 0 1
TMPO 0 0 1 0 0 0 0 1
UNC50 0 0 1 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 1
ZNF875 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 205 49 922 1459 207 0 0 2842
Baylor Genetics 125 449 50 0 0 0 0 620
Fulgent Genetics, Fulgent Genetics 67 239 248 55 8 0 0 617
Illumina Laboratory Services, Illumina 2 1 159 32 53 0 0 246
Genome-Nilou Lab 0 0 4 2 166 0 0 172
OMIM 101 0 0 0 0 0 0 101
Cirak Lab, University Hospital Cologne 13 33 22 0 0 0 0 68
Neuberg Centre For Genomic Medicine, NCGM 1 11 18 0 0 0 0 30
Natera, Inc. 0 0 21 3 2 0 0 26
3billion, Medical Genetics 5 3 5 6 0 0 0 19
Revvity Omics, Revvity 1 3 9 1 0 0 0 14
Mendelics 6 4 0 0 4 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 5 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 4 2 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 6 0 1 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 3 4 5 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 2 4 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 3 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 0 8
University of Washington Center for Mendelian Genomics, University of Washington 4 3 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 4 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 5 1 0 0 0 7
Centogene AG - the Rare Disease Company 0 4 2 0 0 0 0 6
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 4 1 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Genomic Medicine Lab, University of California San Francisco 3 2 0 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 3 0 2 0 0 0 0 5
Harry Perkins Institute Of Medical Research, University Of Western Australia 3 1 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 3 0 0 0 0 4
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 2 0 0 0 0 0 4
Solve-RD Consortium 0 3 1 0 0 0 0 4
Institute of Human Genetics, Cologne University 1 2 0 0 0 0 0 3
Counsyl 2 0 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 3 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 1 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 1 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 3
Suma Genomics 1 1 0 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 0 0 2
Pediatric Genomics Discovery Program, Yale University 0 2 0 0 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 0 0 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 1 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 1 1 0 0 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Research Center for Immunodeficiencies, Tehran University of Medical Sciences 0 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa 0 1 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 1

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