ClinVar Miner

Variants from CSER _CC_NCGL, University of Washington with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from CSER _CC_NCGL, University of Washington: Collection method of the submission from CSER _CC_NCGL, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
341 154 2 87 191 3 75 313

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
CSER _CC_NCGL, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign drug response other
pathogenic 2 5 1 0 0 2 0
likely pathogenic 24 0 5 1 0 0 0
uncertain significance 34 33 0 120 72 0 0
likely benign 12 10 56 0 56 0 1
benign 0 0 1 2 0 0 0

Submitter to submitter summary #

Total submitters: 149
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 72 1 27 77 1 19 125
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 38 0 18 40 0 10 68
GeneDx 0 62 0 12 36 0 13 61
CeGaT Center for Human Genetics Tuebingen 0 27 0 9 33 0 6 48
All of Us Research Program, National Institutes of Health 0 74 0 9 23 0 9 41
Mendelics 0 17 0 15 21 0 3 39
PreventionGenetics, part of Exact Sciences 0 35 0 9 26 0 3 38
Ambry Genetics 0 24 0 8 20 0 9 37
Mayo Clinic Laboratories, Mayo Clinic 0 27 0 12 21 0 3 36
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 28 0 9 24 0 1 34
Quest Diagnostics Nichols Institute San Juan Capistrano 0 25 0 8 20 0 6 34
Illumina Laboratory Services, Illumina 0 39 0 8 19 0 6 33
Color Diagnostics, LLC DBA Color Health 0 36 0 10 20 0 2 32
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 20 0 9 19 0 3 31
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 39 0 5 18 0 4 27
Genetic Services Laboratory, University of Chicago 0 22 0 5 15 0 1 21
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 13 0 7 13 0 0 20
OMIM 0 2 1 2 3 0 13 19
Eurofins Ntd Llc (ga) 0 15 0 4 12 0 2 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 14 0 4 6 0 8 18
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 5 0 2 15 0 0 17
Fulgent Genetics, Fulgent Genetics 0 24 0 3 7 0 4 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 9 0 5 8 0 1 14
Revvity Omics, Revvity 0 20 0 3 6 0 5 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 16 0 6 2 0 4 12
Baylor Genetics 0 16 0 4 2 0 5 11
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 13 0 6 4 0 1 11
Myriad Genetics, Inc. 0 9 0 1 9 0 1 11
Natera, Inc. 0 5 0 2 4 0 4 10
Athena Diagnostics 0 3 0 1 6 0 2 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 9 0 4 2 0 3 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 5 0 0 7 0 1 8
Dasa 0 4 0 2 3 0 3 8
Institute of Human Genetics, University of Leipzig Medical Center 0 7 0 3 0 0 5 8
AiLife Diagnostics, AiLife Diagnostics 0 5 0 1 0 0 6 7
Breakthrough Genomics, Breakthrough Genomics 0 5 0 4 3 0 0 7
Clinical Genetics, Academic Medical Center 0 8 0 1 5 0 1 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 5 0 1 5 0 1 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 9 0 2 5 0 0 7
MGZ Medical Genetics Center 0 6 0 1 3 0 3 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 0 1 4 0 2 7
Variantyx, Inc. 0 1 0 3 0 0 4 7
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 1 0 3 3 0 0 6
Counsyl 0 13 0 1 4 0 1 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 0 5 0 1 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 1 5 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 7 0 2 4 0 0 6
Blueprint Genetics 0 8 0 2 1 0 2 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 0 1 0 4 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 3 1 0 1 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 6 0 2 2 0 0 4
Center for Medical Genetics Ghent, University of Ghent 0 3 0 0 4 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 3 0 1 2 0 1 4
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 4 4
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 2 0 2 0 0 2 4
Genetics and Molecular Pathology, SA Pathology 0 4 0 0 2 0 2 4
Genome-Nilou Lab 0 11 0 0 3 0 1 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 5 0 1 3 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 3 0 1 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 3 0 0 4 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 3 4
Undiagnosed Diseases Network, NIH 0 1 0 1 3 0 0 4
3billion 0 2 0 2 0 0 1 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 1 0 1 3
Dept of Medical Biology, Uskudar University 0 3 0 0 2 0 1 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 3 3
GeneReviews 0 5 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 2 0 1 3
Institute of Immunology and Genetics Kaiserslautern 0 1 0 2 1 0 0 3
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 0 0 3 0 0 3
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 3 0 0 3 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 2 0 1 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 1 0 2 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 0 2 0 0 2
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 2 0 1 1 0 0 2
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 0 0 0 0 2 0 0 2
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 1 0 0 2 0 0 2
ClinGen VHL Variant Curation Expert Panel, ClinGen 0 0 0 1 1 0 0 2
ClinPGx 0 0 0 0 0 2 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 1 0 0 1 2
Department of Pathology and Molecular Medicine, Queen's University 0 0 0 0 2 0 0 2
Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen 0 2 0 0 0 0 2 2
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 0 2 0 0 2
Familial Cancer Clinic, Veneto Institute of Oncology 0 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 1 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 0 0 0 0 0 2 2
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 0 2 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 1 0 1 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 5 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 1 0 1 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 1 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 8 0 0 1 0 1 2
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 1 0 1 2
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 1 0 1 1 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 1 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 0 0 0 1 1
CeMIA 0 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 2 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 1 0 0 1 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1 1
Clinical Genomics Labs, University Health Network 0 0 0 0 1 0 0 1
Cohesion Phenomics 0 1 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 0 1 0 0 1
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
GeneKor MSA 0 0 0 0 1 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 1 1
Genetics Program, Instituto Nacional de Cancer 0 1 0 1 0 0 0 1
Genomenon, Inc, Genomenon, Inc 0 1 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 0 0 1 1
King Laboratory, University of Washington 0 0 0 0 1 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 0 0 0 1 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 0 0 0 1 1
Pathway Genomics 0 1 0 0 0 0 1 1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City 0 0 0 0 0 0 1 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1 0 0 0 1
Russ Altman Lab, Stanford University 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 313
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11353
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00400
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00329
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00279
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00259
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00243
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00242
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00199
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00152
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00110
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00093
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00087
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00072
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00070
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00068
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00064
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117 0.00052
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00032
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00025
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00017
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00017
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00017
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00017
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys) rs13306191 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00005
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00005
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys) rs63750732 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser) rs377337763 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val) rs772368023 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_002354.3(EPCAM):c.426-1G>A rs373597944 0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu) rs63751403 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) rs141735183 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser) rs376526576 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.