ClinVar Miner

Variants from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine: Collection method of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:
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
474 153 0 113 30 3 70 202

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 0 32 21 3 4 1 1 1 0
likely pathogenic 83 0 23 11 11 1 1 1 1
uncertain significance 17 9 0 24 17 1 1 1 0
likely benign 0 0 1 0 1 0 0 0 0
benign 0 0 0 1 0 0 0 0 0
association 0 0 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 153
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 0 102 0 68 0 1 16 84
Invitae 0 54 0 11 23 0 24 56
GeneDx 0 38 0 18 8 0 16 40
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 15 0 7 7 0 11 24
Ambry Genetics 0 15 0 5 5 0 12 22
Illumina Clinical Services Laboratory,Illumina 0 7 0 3 10 1 8 21
Genetic Services Laboratory, University of Chicago 0 4 0 2 4 0 7 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 9 0 5 4 0 4 13
PreventionGenetics,PreventionGenetics 0 1 0 3 6 0 2 11
Athena Diagnostics Inc 0 3 0 2 7 0 3 10
Baylor Genetics 0 7 0 5 0 0 5 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 4 0 5 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 0 2 0 6 8
Mendelics 0 9 0 2 1 0 4 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 2 2 0 2 6
Counsyl 0 1 0 3 0 0 4 6
Integrated Genetics/Laboratory Corporation of America 0 3 0 3 2 0 1 6
GeneReviews 0 11 0 5 0 0 2 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 4 0 0 2 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 4 0 1 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 819 5 0 4 0 0 2 5
Fulgent Genetics,Fulgent Genetics 0 10 0 3 0 0 1 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 4 0 0 1 4
Blueprint Genetics 0 2 0 3 0 0 1 4
Institute of Human Genetics,Klinikum rechts der Isar 0 3 0 4 0 0 1 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 3 1 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 1 3
Center for Human Genetics, Inc 0 4 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 3 0 0 0 0 2 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 2 0 0 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 2 0 0 1 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 2 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 1 0 0 1 2
Color 0 2 0 0 0 0 2 2
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 1 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 2 2
Undiagnosed Diseases Network,NIH 0 0 0 2 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 1 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 1 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 2 0 0 1 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 1 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 1 0 2 0 0 1 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 2 0 0 1 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 1 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 1 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 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 0 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 0 0 0 0 1 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 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 0 1 0 0 0 1
Harry Perkins Institute of Medical Research,University of Western Australia 0 0 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 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 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 3 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 1 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 1 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 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 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 1 1
National Research Council,Institute of Genetics and Biomedical Research 0 1 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 1
Demoulin lab,University of Louvain 0 1 0 1 0 0 0 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1 1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 2 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 1 1
Gharavi Laboratory,Columbia University 0 1 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 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 1 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 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

All variants with conflicting interpretations #

Total variants: 202
Download table as spreadsheet
HGVS dbSNP
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) rs864309489
NM_001012415.3(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001012415.3(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001036.5(RYR3):c.2486G>A (p.Arg829His) rs199500216
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001127221.1(CACNA1A):c.5018G>C (p.Arg1673Pro) rs1057519429
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) rs113614842
NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp) rs188582283
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_002108.3(HAL):c.1287+2T>C rs141634423
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) rs879253869
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly)
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681
NM_003098.2(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843
NM_003285.3(TNR):c.496A>G (p.Thr166Ala) rs147204644
NM_003285.3(TNR):c.538A>C (p.Asn180His) rs61731112
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu)
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)
NM_003587.5(DHX16):c.2091G>T (p.Gln697His)
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004667.5(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670
NM_005560.5(LAMA5):c.10726G>A (p.Glu3576Lys) rs139502000
NM_005560.5(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) rs1553904077
NM_005612.5(REST):c.2413del (p.Leu805fs) rs1553904346
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) rs1553904481
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005781.4(TNK2):c.2630G>A (p.Arg877His) rs112384084
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys) rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys) rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His) rs587777511
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln) rs587777514
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006659.3(TUBGCP2):c.1843G>C (p.Ala615Pro)
NM_006659.3(TUBGCP2):c.889C>T (p.Arg297Cys)
NM_006659.3(TUBGCP2):c.997C>T (p.Arg333Cys)
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) rs1567176190
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) rs869312865
NM_012090.5(MACF1):c.16131T>G (p.Phe5377Leu) rs138819868
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_015047.3(EMC1):c.1411G>C (p.Gly471Arg) rs879253819
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015047.3(EMC1):c.2602G>A (p.Gly868Arg) rs869320626
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017696.2(MCM9):c.911A>G (p.Asn304Ser) rs78231991
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018076.5(ARMC4):c.2780T>G (p.Leu927Trp) rs587777047
NM_018136.5(ASPM):c.1727_1728AG[1] (p.Ser577fs) rs199422146
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292
NM_020191.3(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_021150.4(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter) rs200618384
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021939.3(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn) rs185041492
NM_022463.5(NXN):c.625C>T (p.Arg209Ter) rs1555610590
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_030621.4(DICER1):c.4050+1G>A rs875989783
NM_030621.4(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_030621.4(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_032208.2(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.2(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.2(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032504.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) rs869025316
NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) rs869025317
NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) rs869025319
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val)
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.2191G>A (p.Val731Met)
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)
NM_032656.4(DHX37):c.500_501inv (p.Glu167Ala)
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_144966.5(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_152269.5(C12orf65):c.248del (p.Val83fs) rs587776508
NM_153832.2(GPR161):c.-5T>A rs200635937
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_178822.4(IGSF10):c.2237C>G (p.Pro746Arg)
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) rs749355583
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.