ClinVar Miner

Variants from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet with conflicting interpretations

Location: Denmark  Primary collection method: clinical testing
Minimum review status of the submission from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet: Collection method of the submission from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet:
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
724 291 3 190 21 2 83 269

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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet pathogenic likely pathogenic uncertain significance likely benign benign affects association
pathogenic 0 64 19 1 0 0 0
likely pathogenic 123 3 38 3 3 0 1
uncertain significance 8 18 0 9 5 1 0
likely benign 0 0 8 0 0 0 0
benign 0 0 2 4 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 86 0 41 4 1 16 62
OMIM 0 43 0 20 0 1 2 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 42 0 16 1 0 6 23
Ambry Genetics 0 29 0 15 1 0 1 17
Color Diagnostics, LLC DBA Color Health 0 25 0 11 1 0 5 17
Illumina Laboratory Services, Illumina 0 24 1 10 2 0 4 17
NIHR Bioresource Rare Diseases, University of Cambridge 0 22 0 11 0 0 5 16
GeneDx 0 12 0 7 3 0 5 15
Counsyl 0 46 0 10 3 0 1 14
Institute of Human Genetics, University of Leipzig Medical Center 0 43 0 9 1 0 4 14
PreventionGenetics, part of Exact Sciences 0 6 0 7 2 0 3 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 36 0 9 2 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 16 0 7 0 0 3 10
CeGaT Center for Human Genetics Tuebingen 0 13 0 5 3 0 2 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 12 0 6 2 0 2 10
Breast Cancer Information Core (BIC) (BRCA2) 0 37 0 0 3 0 6 9
Mendelics 0 20 0 7 0 0 2 9
Sharing Clinical Reports Project (SCRP) 0 63 0 5 3 0 1 9
Sharon lab, Hadassah-Hebrew University Medical Center 0 15 0 8 0 0 1 9
Myriad Genetics, Inc. 0 31 0 8 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 5 2 0 0 7
Baylor Genetics 0 54 0 4 1 0 2 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 31 0 2 3 0 2 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 21 0 3 0 0 4 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 7 0 0 0 7
3billion 0 24 0 6 0 0 0 6
Breast Cancer Information Core (BIC) (BRCA1) 0 35 0 0 0 0 6 6
Clinical Genetics, Academic Medical Center 0 8 0 2 3 0 1 6
Eurofins Ntd Llc (ga) 0 10 0 2 2 0 2 6
Fulgent Genetics, Fulgent Genetics 0 15 0 4 0 0 2 6
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 11 0 3 0 0 3 6
Leiden Open Variation Database 0 3 0 5 0 0 1 6
Sema4, Sema4 0 7 0 5 0 0 1 6
All of Us Research Program, National Institutes of Health 0 50 0 1 3 0 1 5
Dasa 0 16 1 3 0 0 1 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 11 0 4 0 0 1 5
Institute of Medical Molecular Genetics, University of Zurich 0 5 0 5 0 0 0 5
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 6 0 4 0 0 1 5
Natera, Inc. 0 9 0 4 0 0 1 5
Revvity Omics, Revvity 0 12 0 4 0 0 1 5
BRCAlab, Lund University 0 70 0 2 2 0 0 4
Blueprint Genetics 0 6 0 2 0 0 2 4
GeneKor MSA 0 7 3 1 0 0 0 4
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 2 0 0 0 2 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 11 1 1 0 0 2 4
Neuberg Centre For Genomic Medicine, NCGM 0 14 0 1 0 0 3 4
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 3 0 4 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 4 0 0 0 4
Variantyx, Inc. 0 20 0 4 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 38 0 3 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 0 2 1 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 12 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 7 0 2 0 0 1 3
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 2 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 22 0 2 0 0 1 3
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 17 0 2 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 2 1 0 0 0 3
MGZ Medical Genetics Center 0 25 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 3 0 0 0 3
Athena Diagnostics 0 2 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1 0 1 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 1 0 0 1 2
Centre of Medical Genetics, University Hospital Muenster 0 2 0 2 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 0 0 2 0 0 0 2
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 2 2
Dept Of Ophthalmology, Nagoya University 0 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 30 0 2 0 0 0 2
Genesis Genomics 0 16 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 0 1 0 1 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 4 0 2 0 0 0 2
Institute of Human Genetics, Medical University Innsbruck 0 7 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 2 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 1 0 2 0 0 0 2
New York Genome Center 0 6 0 1 0 0 1 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 11 0 2 0 0 0 2
Otogenetics 0 0 0 1 0 0 1 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 0 3 0 2 0 0 0 2
True Health Diagnostics 0 1 0 1 0 0 1 2
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 7 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 1 1 0 0 0 2
deCODE genetics, Amgen 0 1 0 2 0 0 0 2
Arcensus 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 0 0 0 0 0 0 1 1
Care4Rare-SOLVE, CHEO 0 0 0 1 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 6 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 1 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 0 0 0 0 1 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 8 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 100 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 11 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 4 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 1 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 10 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 5 0 1 0 0 0 1
Genome-Nilou Lab 0 29 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 7 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 1
Human Molecular Lab, Hazara University 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 0 1 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 15 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 0 0 0 1 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 0 0 0 1
MNM Diagnostics 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 1 0 0 0 1
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 0 2 0 1 0 0 0 1
Michigan Medical Genetics Laboratories, University of Michigan 0 19 0 1 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 23 0 0 0 0 1 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 1 0 0 0 0 1 1
NHS Central & South Genomic Laboratory Hub 0 4 0 1 0 0 0 1
National Institute of Cancer Research, National Health Research Institutes 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 5 1 0 0 0 0 1
Pathway Genomics 0 10 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 11 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 1 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 269
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00546
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00369
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00350
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00084
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00061
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00040
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00012
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00007
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00005
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00003
NM_004453.4(ETFDH):c.897G>A (p.Leu299=) rs764284379 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875 0.00002
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) rs760559435 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031 0.00001
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp) rs80359142 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn) rs587779272 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000275.3(OCA2):c.1045-15T>G rs779461179 0.00001
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs) rs750681891 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter) rs775365939 0.00001
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter) rs771007945 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00001
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter) rs898553156 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00001
NC_000018.9:g.77748581_77748614del34 rs535089924
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly) rs398122611
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000249.4(MLH1):c.1919C>G (p.Pro640Arg) rs267607875
NM_000275.3(OCA2):c.408_409del (p.Arg137fs) rs2548495570
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000322.5(PRPH2):c.276dup (p.Arg93fs) rs1582780842
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs) rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) rs762326108
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.863-1G>C rs863224448
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1]) rs2145428787
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000546.6(TP53):c.241dup (p.Thr81fs) rs2073470833
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.711G>C (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.761T>C (p.Ile254Thr) rs1330865474
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs) rs2535934098
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer) rs864309545
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379659.1(ZNF142):c.2510del (p.Pro837fs) rs34864794
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys) rs2533186607
NM_002317.7(LOX):c.351del (p.Arg118fs) rs1274931972
NM_002485.5(NBN):c.2071del rs2130756322
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.564_568delinsA (p.Val189fs) rs2509135094
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer) rs2543931410
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala) rs535695655
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) rs2108429509
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) rs1553159719
NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) rs2108832865
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_015450.3(POT1):c.676C>T (p.His226Tyr) rs1225635203
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser) rs2141298527
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_152443.3(RDH12):c.697G>T (p.Val233Phe) rs140257538
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
UGT1A1*28 rs3064744

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