ClinVar Miner

Variants studied for arthrogryposis multiplex congenita

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
429 510 1265 1437 388 1 12 3945

Gene and significance breakdown #

Total genes and gene combinations: 103
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
DOK7 68 43 293 463 42 0 2 894
MUSK 42 22 231 330 42 0 3 660
RAPSN 75 44 184 331 18 0 1 616
UBA1 3 0 184 171 88 0 3 438
NEB 55 192 45 17 47 0 0 351
NEB, RIF1 30 101 13 1 13 0 0 158
VPS33B 17 7 40 8 14 1 0 87
SYNE1 4 3 25 20 30 0 2 84
DOK7, LOC129992118 3 2 24 25 3 0 0 56
LOC126863253, UBA1 0 0 24 20 13 0 0 56
ZC4H2 26 9 14 0 1 0 1 49
PIEZO2 4 3 8 4 24 0 0 43
GLE1, LOC101929270 6 3 28 3 6 0 0 42
DOK7, LOC126806951 1 3 11 18 2 0 0 35
GLE1 2 0 27 2 5 0 0 35
LGI4 8 10 6 0 8 0 0 32
SCARF2 10 3 3 1 9 0 0 25
VIPAS39 11 4 4 2 0 0 0 21
FKBP10 10 3 6 1 2 0 0 20
TNNT3 0 0 15 5 0 0 0 20
ASCC1 14 3 2 0 1 0 0 18
KIF14 2 1 6 2 3 0 0 14
RYR1 5 8 0 0 0 0 0 13
SLC35A3 0 0 9 2 2 0 0 13
NUP88 3 0 3 0 6 0 0 12
TNNI2 0 0 10 2 0 0 0 12
TOR1A 4 2 3 1 1 0 0 10
TRIP4 3 4 1 1 1 0 0 10
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
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
ATP1A2 0 2 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
ERGIC1 2 0 0 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
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
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
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
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 1 0 0 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
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
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: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 186 46 893 1347 201 0 0 2673
Baylor Genetics 104 347 48 0 0 0 0 495
Illumina Laboratory Services, Illumina 2 1 159 32 53 0 0 246
Fulgent Genetics, Fulgent Genetics 20 16 85 52 8 0 0 181
Genome-Nilou Lab 0 0 4 2 166 0 0 172
OMIM 100 0 0 0 0 0 0 100
Cirak Lab, University Hospital Cologne 13 33 22 0 0 0 0 68
Natera, Inc. 0 0 21 3 2 0 0 26
Mendelics 6 6 0 0 4 0 0 16
Revvity Omics, Revvity 1 3 9 1 0 0 0 14
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 4 10 0 0 0 0 14
3billion 5 3 5 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 6 0 1 0 0 12
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 3 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 2 0 0 0 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 2 0 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 0 0 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
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 0 0 0 0 3
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
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
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Suma Genomics 1 0 0 1 0 0 0 2
DASA 1 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 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
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
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 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
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

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