ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
377 91 18 137 28 12 72 211

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 14 49 14 1 1 2 3 1 3 1
likely pathogenic 82 1 22 4 2 1 1 1 0 0
uncertain significance 22 14 3 19 11 0 0 0 1 0
likely benign 6 1 5 0 5 0 0 0 1 0
benign 3 0 4 4 0 0 0 0 2 0
drug response 2 0 0 0 0 0 0 0 0 0
risk factor 0 0 0 0 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 171
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
OMIM 0 76 0 42 2 9 22 72
GeneDx 0 81 0 31 9 1 19 59
Invitae 0 70 0 21 15 1 18 54
Ambry Genetics 0 43 0 16 9 0 11 36
GeneReviews 0 9 14 9 0 2 2 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 38 0 16 4 1 4 24
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 32 0 7 8 1 5 21
Illumina Clinical Services Laboratory,Illumina 0 12 0 6 6 0 8 20
Mendelics 0 21 0 5 9 0 5 18
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 7 3 1 9 0 2 15
Integrated Genetics/Laboratory Corporation of America 0 25 0 5 8 0 2 15
Color 0 10 0 2 6 0 4 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 21 0 3 6 0 2 11
Counsyl 0 25 0 7 2 0 4 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 15 0 1 3 0 7 11
Baylor Genetics 0 16 0 8 0 0 2 10
Athena Diagnostics Inc 0 10 0 8 2 0 1 10
CSER _CC_NCGL, University of Washington 0 11 0 2 4 0 3 9
Genetic Services Laboratory, University of Chicago 0 15 0 3 2 0 3 8
Fulgent Genetics,Fulgent Genetics 0 27 0 5 0 0 3 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 17 0 3 2 1 1 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 5 0 1 2 1 2 6
PreventionGenetics,PreventionGenetics 0 4 0 0 5 0 0 5
Blueprint Genetics 0 15 0 0 4 0 1 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 11 0 5 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 663 11 0 3 0 0 2 5
SIB Swiss Institute of Bioinformatics 0 3 0 5 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 3 1 0 1 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 2 0 0 2 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 8 0 2 0 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 2 0 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 7 0 3 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 1 1 0 1 3
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 7 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 1 3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 2 0 1 0 1 1 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 1 2 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 9 0 0 2 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 4 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 3 0 1 0 0 1 2
Sharing Clinical Reports Project (SCRP) 0 5 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 5 0 1 0 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 9 0 2 0 0 0 2
PharmGKB 0 2 0 0 0 2 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 3 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 5 0 2 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 1 0 2
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 1 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 2 0 0 1 2
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 2 2
ClinGen PAH Variant Curation Expert Panel 0 2 0 1 0 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 2 0 0 0 2
Raymond Lab,University of Cambridge 0 0 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 1 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 0 0 1 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 1 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 4 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 1
PXE International 0 0 0 1 0 0 0 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 1 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 2 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 0 0 0 0 1 1
University of British Columbia 0 0 0 1 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 1 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
GeneKor MSA 0 2 0 0 0 1 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 4 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 0 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 0 0 0 1 0 0 0 1
Vantari Genetics 0 1 0 1 0 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 3 0 1 0 0 1 1
Research and Development, ARUP Laboratories 0 2 0 0 1 0 0 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 0 1
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 4 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
True Health Diagnostics 0 1 0 0 0 1 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 0 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 0 1
Department of Human Genetics,University Hospital Magdeburg 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 4 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 3 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 0 1 0 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Institute for Human Genetics,University Hospital Essen 0 0 0 1 0 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Robert's Program,Boston Children's Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 211
Download table as spreadsheet
HGVS dbSNP
NC_012920.1(MT-ATP6):m.9035T>C
NC_012920.1(MT-ND6):m.14502T>C
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.1555A>G rs267606617
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000059.3(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634
NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001029882.3(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001079846.1(CREBBP):c.5252A>G (p.Asn1751Ser) rs1064794963
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137
NM_001164731.2(REEP1):c.431del (p.Pro144fs) rs387906263
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001314077.1(PROS1):c.1597T>C (p.Ser533Pro) rs121918472
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001348803.2(ZBTB20):c.1862T>C (p.Leu621Pro)
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001365.4(DLG4):c.1147_1154del (p.Phe383fs)
NM_001365.4(DLG4):c.1672+2T>C
NM_001365.4(DLG4):c.1843del (p.Glu615fs)
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) rs397516706
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) rs786204849
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005321.2(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) rs71539673
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) rs1553248641
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006920.6(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014381.3(MLH3):c.2791_2792GA[1] (p.Asn932fs) rs754716792
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_015125.4(CIC):c.2974C>T (p.Gln992Ter) rs1135401825
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024665.6(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) rs199472821
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.5215C>T (p.Arg1739Trp) rs199473303
Single allele
m.1494C>T rs267606619

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