ClinVar Miner

Variants from Mendelics with conflicting interpretations

Location: Brazil — Primary collection method: clinical testing
Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
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
570 960 49 192 441 29 104 663

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
Mendelics pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 4 86 21 2 0 0 15 8
likely pathogenic 42 1 32 2 0 0 0 2
uncertain significance 29 21 37 370 122 1 2 2
likely benign 3 1 52 4 54 0 0 0
benign 0 1 6 10 3 0 0 0

Submitter to submitter summary #

Total submitters: 89
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 0 961 0 69 203 1 17 290
Color 0 563 0 39 221 0 9 269
Ambry Genetics 0 801 0 53 195 0 10 258
GeneDx 0 677 0 42 129 1 10 182
Integrated Genetics/Laboratory Corporation of America 0 386 1 31 93 0 18 143
Counsyl 0 470 0 52 35 0 12 99
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 42 2 13 0 1 58
Quest Diagnostics Nichols Institute San Juan Capistrano 0 329 0 19 28 0 9 56
PreventionGenetics 0 133 0 13 30 0 2 45
Sharing Clinical Reports Project (SCRP) 0 94 0 15 26 0 1 42
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 145 0 12 15 0 11 38
Illumina Clinical Services Laboratory,Illumina 0 68 0 4 21 0 7 32
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 83 0 12 13 0 6 31
True Health Diagnostics 0 45 0 6 19 1 3 29
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 81 0 6 18 0 4 28
Department of Pathology and Laboratory Medicine,Sinai Health System 0 79 0 13 12 0 3 28
OMIM 0 74 0 4 1 12 12 27
Genetic Services Laboratory, University of Chicago 0 52 0 4 13 0 1 18
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 50 2 2 12 0 2 18
PharmGKB 0 0 0 0 0 17 0 17
Breast Cancer Information Core (BIC) (BRCA2) 0 86 0 3 9 0 5 17
University of Washington Department of Laboratory Medicine,University of Washington 0 25 0 2 10 1 4 17
GeneKor MSA 0 103 0 7 8 1 0 16
CSER_CC_NCGL; University of Washington Medical Center 0 36 0 3 9 0 3 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 45 0 6 5 0 1 12
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 91 0 7 3 0 2 12
Database of Curated Mutations (DoCM) 0 3 0 9 0 0 3 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 24 0 6 6 0 0 12
GeneReviews 0 15 4 2 0 0 4 10
Vantari Genetics 0 6 0 4 6 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 29 0 1 6 0 3 10
Michigan Medical Genetics Laboratories,University of Michigan 0 21 0 5 4 0 0 9
Breast Cancer Information Core (BIC) (BRCA1) 0 61 0 1 4 0 4 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 13 0 2 5 0 1 8
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 15 0 3 4 0 1 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 21 0 0 6 0 2 8
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 21 0 8 0 0 0 8
Athena Diagnostics Inc 0 7 0 3 4 0 0 7
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 17 0 2 4 0 1 7
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 67 0 4 1 0 2 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 28 0 6 1 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 11 0 3 3 0 0 6
Fulgent Genetics 0 170 0 1 4 0 1 6
Pathway Genomics 0 28 0 2 3 0 1 6
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 21 0 1 5 0 0 6
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 93 0 6 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1 2 0 2 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 2 1 0 2 5
Center for Human Genetics, Inc 0 12 0 1 1 0 2 4
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 16 0 3 0 1 0 4
ARUP Institute,ARUP Laboratories 0 9 0 0 2 0 2 4
Baylor Miraca Genetics Laboratories, 0 17 0 1 0 0 2 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 7 0 1 0 0 2 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 10 0 1 1 0 1 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 2 0 1 3
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 3 0 2 1 0 0 3
Department of Pathology and Molecular Medicine,Queen's University 0 10 0 1 2 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 4 0 3 0 0 0 3
3DMed Clinical Laboratory Inc 0 6 0 1 2 0 0 3
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 2 0 0 1 3
ClinGen CDH1 Variant Curation Expert Panel 0 3 0 2 1 0 0 3
Division Human Genetics,Medical University Innsbruck 0 10 0 2 0 0 0 2
CFTR2 0 100 0 2 0 0 0 2
PALB2 database 0 9 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology 0 10 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 2 0 0 0 2
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 6 0 0 2 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 1 0 1 1 0 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 28 0 0 1 0 1 2
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 23 0 1 0 0 0 1
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 6 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 1 0 0 0 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 1
Dr. Peter K. Rogan Lab,Western University 0 0 0 1 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 0 0 0 1 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 1 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 13 0 1 0 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 1 0 0 1 0 0 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 2 0 0 1 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 663
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.-30108G>C rs587778028
NM_000038.5(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.5(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.5(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.5(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.5(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.5(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.5(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.5(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.5(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.5(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.5(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.5(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.5(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.5(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.5(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.5(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn)
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.5712dupA (p.Ser1905Ilefs) rs587781730
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.640delT (p.Ser214Profs) rs786204543
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7629+12_7629+15delTGAA rs1555124156
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) rs879254036
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000057.3(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.298_299delCA (p.Gln100Glufs) rs745807085
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000059.3(BRCA2):c.-39-12_-39-10delTCT rs276174798
NM_000059.3(BRCA2):c.-41G>A rs879255312
NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.3(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.3(BRCA2):c.353G>A (p.Arg118His) rs80358603
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.4023A>C (p.Ser1341=) rs276174840
NM_000059.3(BRCA2):c.4963delT (p.Tyr1655Thrfs) rs886040557
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6039delA (p.Val2014Tyrfs) rs876660637
NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg) rs786204274
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323
NM_000059.3(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9502-12T>G rs81002803
NM_000059.3(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.3(BRCA2):c.9645T>A (p.Leu3215=) rs755111487
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9945delA (p.Glu3316Asnfs) rs431825381
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000075.3(CDK4):c.632+9C>T rs1192976748
NM_000075.3(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.3(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000077.4(CDKN2A):c.-34G>A rs1800586
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.2(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1634_1635delAA (p.Lys545Argfs) rs267608064
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.3753_3756dupATTA (p.Val1253Ilefs) rs876661222
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.4001+11_4001+15dupAACTA rs587779302
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4001+32_4001+35dup rs267608136
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000245.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) rs201037977
NM_000245.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_000245.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1500_1502delCAT (p.Ile501del) rs587778920
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2262del (p.Arg755Glyfs) rs267607904
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2005+8dupA rs267607992
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT (p.Leu94del) rs267607919
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.4111-8_4111-6delGTT rs751729752
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000268.3(NF2):c.1340+8G>T rs370604189
NM_000268.3(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.3(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.3(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.3(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000314.6(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.6(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000455.4(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.559G>A (p.Gly187Ser) rs587782032
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000455.4(STK11):c.920+1G>A rs1131690920
NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.3(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.3(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.3(BARD1):c.176_177delAG (p.Glu59Alafs) rs1057517589
NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.3(BARD1):c.1973G>A (p.Arg658His) rs377227840
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) rs145009419
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1209+1G>T rs397508176
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1408_1417del10 (p.Val470Glufs) rs397508204
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) rs397508387
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2554dupT (p.Tyr852Leufs) rs1057517068
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2989-1G>A rs397508470
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.2997_3000delAATT (p.Ile1000Terfs) rs397508472
NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3294G>T (p.Trp1098Cys)
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro)
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.4300_4301dupAG (p.Ser1435Glyfs) rs397508709
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.488delA (p.Lys163Argfs) rs1554379899
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.53+1G>T rs397508746
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.5(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000546.5(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001008537.2(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001012331.1(NTRK1):c.1178-179C>T rs199646180
NM_001012331.1(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_001012331.1(NTRK1):c.570C>G (p.Ser190Arg) rs138608619
NM_001012331.1(NTRK1):c.865C>A (p.Gln289Lys) rs137979116
NM_001012331.1(NTRK1):c.940C>T (p.Arg314Cys) rs137994522
NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.2(NF1):c.8395G>A (p.Val2799Ile) rs377393842
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127500.1(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_001127500.2(MET):c.103A>T (p.Met35Leu) rs375353223
NM_001127500.2(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_001127500.2(MET):c.2372C>T (p.Pro791Leu) rs771333219
NM_001127500.2(MET):c.3272C>T (p.Pro1091Leu) rs370529693
NM_001127500.2(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.2(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_001127500.2(MET):c.789G>A (p.Thr263=) rs554190225
NM_001127500.2(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1310G>A (p.Arg437Gln) rs587782120
NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) rs587778542
NM_001128425.1(MUTYH):c.251A>G (p.Tyr84Cys) rs200747973
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.481G>C (p.Asp161His) rs564930066
NM_001128425.1(MUTYH):c.577-5A>T rs758377868
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) rs587780749
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_001128425.1(MUTYH):c.933+3A>C rs587780751
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_001845.4(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.156_157delTT (p.Ser53Cysfs) rs767454740
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002691.3(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002691.3(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.3(RAD51D):c.263+1509C>T rs201506572
NM_002878.3(RAD51D):c.263+1588A>G rs180869630
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.355T>C (p.Cys119Arg) rs201313861
NM_002878.3(RAD51D):c.363delA (p.Ala122Glnfs) rs730881935
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) rs138969595
NM_002907.3(RECQL):c.1215A>C (p.Ala405=) rs147610182
NM_002907.3(RECQL):c.426delT (p.Met144Trpfs) rs753723230
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004360.3(CDH1):c.387+5G>A rs113055163
NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.4(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.4(CDH1):c.2439+10C>T rs35236080
NM_004360.4(CDH1):c.2440-6C>G rs139757930
NM_004360.4(CDH1):c.269G>A (p.Arg90Gln) rs587782647
NM_004360.4(CDH1):c.371G>A (p.Arg124His) rs115418995
NM_004360.4(CDH1):c.671G>A (p.Arg224His) rs201511530
NM_004360.4(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004656.3(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.3(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005228.4(EGFR):c.2543C>T (p.Pro848Leu) rs148934350
NM_005431.1(XRCC2):c.283A>G (p.Ile95Val) rs140214637
NM_005431.1(XRCC2):c.378_381delACTT (p.Leu126Phefs) rs763401560
NM_005431.1(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_005431.1(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006147.3(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006280.2(SSR4):c.358_359del (p.Arg120Glufs) rs794729223
NM_006493.2(CLN5):c.334C>T (p.Arg112Cys) rs786205211
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1188delT (p.Val397Phefs) rs753159426
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007254.3(PNKP):c.1221_1223delCAC (p.Thr408del) rs786205207
NM_007294.3(BRCA1):c.-20+5T>C rs1057524628
NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488
NM_007294.3(BRCA1):c.135-5T>C rs587781916
NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182
NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) rs786201784
NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) rs80357678
NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) rs80357079
NM_007294.3(BRCA1):c.4344C>T (p.Ser1448=) rs1250691798
NM_007294.3(BRCA1):c.4358-2725T>C rs374519494
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5211A>G (p.Arg1737=) rs1555576963
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.671-18_671-16delATT rs398122354
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.755G>A (p.Arg252His) rs80357138
NM_007294.3(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) rs80357464
NM_007299.3(BRCA1):c.787+11_787+12delTT rs80357724
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_020630.4(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.4(RET):c.1063+9G>A rs765463636
NM_020975.4(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.4(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.262A>G (p.Ile88Val) rs141679950
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.5(RET):c.1013C>T (p.Thr338Ile) rs377767433
NM_020975.5(RET):c.1529C>T (p.Ala510Val) rs201745826
NM_020975.5(RET):c.1642G>A (p.Gly548Ser) rs374461212
NM_020975.5(RET):c.3188-9C>T rs551159582
NM_020975.5(RET):c.405C>T (p.Gly135=) rs142345108
NM_020975.5(RET):c.973G>A (p.Ala325Thr) rs779719517
NM_021007.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_024426.4(WT1):c.647-6C>A rs372418954
NM_024426.5(WT1):c.1063T>C (p.Cys355Arg) rs142059681
NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.3(PALB2):c.1192delG (p.Val398Cysfs) rs1555461407
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.1424dupC (p.Arg476Lysfs) rs1555461294
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1611G>A (p.Ser537=) rs730881874
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) rs587782443
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.3(PALB2):c.2438T>C (p.Ile813Thr) rs763191051
NM_024675.3(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2834+4T>C rs982643702
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.3(PALB2):c.3350+5G>A rs587782566
NM_024675.3(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) rs771028677
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_058216.2(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.2(RAD51C):c.571+4A>G rs587780257
NM_058216.2(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.870T>A (p.Ile290=) rs376402418
NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_130799.2(MEN1):c.655-6C>G rs77461664
NM_153026.2(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_183075.2(CYP2U1):c.1210_1211delGA (p.Glu404Serfs) rs767024102
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664

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