ClinVar Miner

Variants from Broad Institute Rare Disease Group,Broad Institute with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Broad Institute Rare Disease Group,Broad Institute: Collection method of the submission from Broad Institute Rare Disease Group,Broad Institute:
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
277 73 15 92 0 3 52 150

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
Broad Institute Rare Disease Group,Broad Institute pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 14 42 5 1 1 1 1 1 2
likely pathogenic 46 1 10 2 1 1 1 1 0
uncertain significance 21 20 0 0 0 0 0 0 0
benign 0 0 0 5 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 145
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 55 0 18 0 1 14 33
Counsyl 0 35 0 17 0 0 5 21
Invitae 0 72 0 15 0 0 7 21
GeneDx 0 66 0 13 0 0 8 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 52 0 16 0 0 4 19
GeneReviews 0 12 14 2 0 0 1 17
Illumina Clinical Services Laboratory,Illumina 0 20 0 5 0 0 3 7
Genetic Services Laboratory, University of Chicago 0 13 0 3 0 1 2 6
Fulgent Genetics,Fulgent Genetics 0 28 0 5 0 0 1 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 4 0 0 3 6
Ambry Genetics 0 12 0 4 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 1 1 0 0 2 4
Institute of Human Genetics,Klinikum rechts der Isar 0 8 0 3 0 0 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 1 0 0 3 4
Undiagnosed Diseases Network,NIH 0 4 0 2 0 0 3 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 3 0 2 0 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 3 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 8 0 3 0 0 0 3
Baylor Genetics 0 11 0 2 0 0 0 2
Athena Diagnostics Inc 0 24 0 2 0 0 1 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 20 0 2 0 0 0 2
PreventionGenetics,PreventionGenetics 0 1 0 1 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 2 0 0 0 2
Blueprint Genetics 0 6 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 0 0 1 2
UW Hindbrain Malformation Research Program,University of Washington 0 2 0 1 0 0 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 1 0 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 1 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 5 0 0 0 0 2 2
Gharavi Laboratory,Columbia University 0 3 0 1 0 0 1 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 8 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 1 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 17 0 1 0 0 0 1
Mendelics 0 8 0 0 0 0 1 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 3 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 1 0 0 0 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 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
GOLD service, Hunter New England Health 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 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
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
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 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
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 3 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
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 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 1 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
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
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 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 2 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
Human Genetics - Radboudumc,Radboudumc 0 2 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 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
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 0 0 1 0 0 0 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 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
Yale Center for Mendelian Genomics,Yale University 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 0 0 0 1 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
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Cirak Lab,University Hospital Cologne 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 0 0 0 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratory of Medical Genetics, INSERM 0 1 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
Broad Institute Rare Disease Group,Broad Institute 497 2 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Department of Pediatrics,Driscoll Children's Hospital 0 0 0 1 0 0 0 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
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 3 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 1 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 150
Download table as spreadsheet
HGVS dbSNP
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001042723.2(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.2605G>A (p.Val869Met) rs771551765
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003688.3(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005105.4(RBM8A):c.-21G>A rs139428292
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_005321.3(H1-4):c.408dup (p.Lys137fs)
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634
NM_007123.5(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_015166.3(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016360.4(TACO1):c.472dup (p.His158fs) rs587776513
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241
NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024818.4(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_032504.1(UNC80):c.8058+2T>G
NM_032856.3(WDR73):c.766dup (p.Arg256Profs) rs727502864
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033500.2(HK1):c.2503G>A (p.Glu835Lys) rs777849213
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter)
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val)
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
Single allele

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