ClinVar Miner

Variants from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
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
344 144 10 34 209 2 31 261

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 8 19 9 1 1 0 0 0 1
likely pathogenic 15 0 3 1 1 1 1 1 0
uncertain significance 11 11 2 176 89 0 0 0 0
likely benign 0 0 2 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 123
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
Invitae 0 153 0 10 182 0 3 194
GeneDx 0 99 0 8 61 0 6 74
Ambry Genetics 0 55 0 1 40 0 2 43
Illumina Clinical Services Laboratory,Illumina 0 38 0 3 18 0 5 25
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 56 0 2 20 0 3 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 29 0 1 14 0 5 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 30 0 3 13 0 3 19
Athena Diagnostics Inc 0 16 0 2 16 0 1 18
OMIM 0 22 0 7 0 1 7 15
Mendelics 0 20 0 0 13 0 2 15
GeneReviews 0 10 8 4 2 0 2 15
PreventionGenetics,PreventionGenetics 0 0 0 1 12 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 12 0 1 11 0 1 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 29 0 2 9 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 25 1 0 9 0 1 11
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 7 0 2 10
Genetic Services Laboratory, University of Chicago 0 23 0 0 8 0 0 8
Counsyl 0 8 0 5 0 0 2 6
Color 0 5 0 0 6 0 0 6
Center for Human Genetics, Inc 0 11 0 1 4 0 0 5
Center for Medical Genetics Ghent,University of Ghent 0 8 0 2 1 0 2 5
Baylor Genetics 0 8 0 3 0 0 1 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 2 0 1 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 3 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 4 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 2 0 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 1 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 2 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 0 1 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 2
Blueprint Genetics 0 14 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 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
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 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 1 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 5 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
Wellcome Centre for Mitochondrial Research,Newcastle 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 3 0 0 1 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 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
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 0 1 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 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 1 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 0 1
Database of Curated Mutations (DoCM) 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 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
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
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 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
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
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
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 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
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 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 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 0 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 0 1 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 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
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 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
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 261
Download table as spreadsheet
HGVS dbSNP
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) rs185342631
NM_000064.4(C3):c.2951-5_2951-3del
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000101.4(CYBA):c.226G>A (p.Val76Met)
NM_000101.4(CYBA):c.524_526CGG[3] (p.Ala176dup) rs760275837
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000397.3(CYBB):c.969A>G (p.Gln323=) rs144764222
NM_000417.2(IL2RA):c.584-8del rs748515506
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) rs754502950
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117
NM_000639.3(FASLG):c.451+7A>G rs201525996
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=) rs782557596
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001079.3(ZAP70):c.1082+8C>T rs55933862
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) rs10127939
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001193376.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001250.6(CD40):c.381C>T (p.Pro127=) rs763263083
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.4068+7G>A rs587780905
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001367624.1(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673
NM_001367624.1(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_002187.2(IL12B):c.749G>A (p.Arg250Gln) rs74644143
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) rs759929786
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) rs199636472
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002831.6(PTPN6):c.9-6G>A rs200900053
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_002838.5(PTPRC):c.3073-6A>G rs191867796
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257
NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931
NM_003190.4(TAPBP):c.591G>A (p.Pro197=) rs200497341
NM_003200.5(TCF3):c.307G>A (p.Gly103Ser)
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359
NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) rs140014632
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006904.6(PRKDC):c.5572-4G>A rs367584015
NM_006920.6(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007315.3(STAT1):c.1222-5T>C rs191364028
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) rs367634881
NM_012448.3(STAT5B):c.551-5T>C rs200299299
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) rs756947754
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) rs116690692
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=) rs540345773
NM_014795.4(ZEB2):c.332-6C>T rs730881186
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) rs140090983
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_019032.5(ADAMTSL4):c.2560-4G>A rs374389962
NM_019032.5(ADAMTSL4):c.2944-7G>A rs193025475
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075
NM_024589.2(ROGDI):c.532-4G>A rs3747610
NM_024598.3(USB1):c.641G>A (p.Cys214Tyr) rs146685901
NM_024675.3(PALB2):c.1540G>A (p.Gly514Arg) rs756778249
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_033360.4(KRAS):c.112-5C>T rs376520586
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_052813.4(CARD9):c.1434+1G>C rs141992399
NM_052813.4(CARD9):c.809A>T (p.Glu270Val) rs114895119
NM_052814.4(CARD9):c.1312-13CT[2] rs770532797
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_138387.3(G6PC3):c.201C>T (p.Leu67=) rs375273894
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139276.2(STAT3):c.2228G>T (p.Gly743Val) rs151033214
NM_144687.3(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) rs144405088
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152468.4(TMC8):c.1364G>A (p.Arg455Gln) rs151076155
NM_172056.2(KCNH2):c.1341C>T (p.Tyr447=) rs367570298
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_174963.5(ST3GAL3):c.1286G>A (p.Arg429Gln) rs553120567
NM_178443.2(FERMT3):c.331C>T (p.Arg111Cys) rs140328152
NM_178443.2(FERMT3):c.736G>A (p.Ala246Thr) rs150869428
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_199242.2(UNC13D):c.227C>T (p.Thr76Met) rs78028658
NM_199242.2(UNC13D):c.972C>T (p.Asp324=) rs368990813
NM_203447.3(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018
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.