ClinVar Miner

Variants from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute with conflicting interpretations

Location: Netherlands  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute: Collection method of the submission from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission 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
15 313 38 410 135 3 11 496

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
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 16 4 0 0 1 1
likely pathogenic 7 0 1 0 0 0 0
uncertain significance 3 3 0 13 2 0 0
likely benign 0 0 64 0 141 0 0
benign 0 0 57 246 38 0 1

Submitter to submitter summary #

Total submitters: 53
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
GeneDx 0 465 0 142 28 0 4 174
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 209 0 78 18 0 1 97
Quest Diagnostics Nichols Institute San Juan Capistrano 0 181 0 61 28 0 1 90
Genetic Services Laboratory, University of Chicago 0 105 0 79 10 0 0 89
CeGaT Center for Human Genetics Tuebingen 0 179 0 74 13 0 1 88
PreventionGenetics, part of Exact Sciences 0 337 0 73 12 0 1 86
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 99 0 64 21 0 1 86
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 347 0 74 8 0 2 84
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 181 0 73 0 0 0 73
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 314 0 57 7 0 1 65
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 38 11 12 0 0 61
Mayo Clinic Laboratories, Mayo Clinic 0 151 0 50 9 0 0 59
Department of Pathology and Laboratory Medicine, Sinai Health System 0 122 0 33 22 0 3 58
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 66 0 19 29 0 0 48
Breakthrough Genomics, Breakthrough Genomics 0 208 0 47 0 0 0 47
Eurofins Ntd Llc (ga) 0 170 0 37 9 0 0 46
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 525 0 43 0 0 0 43
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 128 0 32 0 0 0 32
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 163 0 31 0 0 0 31
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 73 0 10 9 0 1 20
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 91 0 20 0 0 0 20
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 26 0 5 12 0 1 18
Labcorp Genetics (formerly Invitae), Labcorp 0 63 0 13 1 0 2 16
Fulgent Genetics, Fulgent Genetics 0 36 0 12 3 0 0 15
Clinical Genetics, Academic Medical Center 0 118 0 13 0 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 18 0 11 2 0 0 13
Athena Diagnostics 0 32 0 11 1 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 121 0 12 0 0 0 12
Leiden Open Variation Database 0 18 0 7 1 0 0 8
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 59 0 7 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 0 3 3 0 0 6
Revvity Omics, Revvity 0 46 0 2 1 0 2 5
Mendelics 0 2 0 0 5 0 0 5
Department of Pathology and Molecular Medicine, Queen's University 0 10 0 3 2 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 3 1 0 0 4
OMIM 0 4 0 0 0 2 1 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 31 0 2 0 0 1 3
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 13 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 33 0 2 0 0 1 3
GeneKor MSA 0 62 0 2 0 0 0 2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 8 0 1 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
CZECANCA consortium 0 20 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 29 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 40 0 1 0 0 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 7 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 496
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.212-58A>C rs80291632 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_002354.3(EPCAM):c.*265A>T rs11554292 0.01658
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000051.4(ATM):c.3403-34T>A rs148368017 0.01280
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002878.4(RAD51D):c.903+53C>T rs45496096 0.01225
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000059.4(BRCA2):c.8632+132dup rs201392123 0.00742
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_000051.4(ATM):c.6348-54T>C rs116924981 0.00493
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000051.4(ATM):c.5762+27G>A rs3218686 0.00428
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000548.5(TSC2):c.1362-32C>G rs45517166 0.00391
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000051.4(ATM):c.6007-44G>A rs185700860 0.00300
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_002439.5(MSH3):c.1992G>A (p.Gln664=) rs144019582 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000059.4(BRCA2):c.425+33A>G rs200065709 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
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_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.-61C>T rs549332987 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln) rs773433679 0.00004
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.6938-26T>C rs774079948 0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn) rs398122756 0.00001
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.68-17A>G rs1060504621 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile) rs753067824 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.6198+130G>A rs55982799
NM_000051.4(ATM):c.6573-42del rs11366542
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs) rs1064792995
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro) rs753512842
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu) rs1064793402
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp) rs276174821
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.681+30T>C rs2137458697
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys) rs876661273
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr) rs80359040
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9648+106del rs11571824
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG rs758718643
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_001042492.3(NF1):c.730+32del rs71142032
NM_002382.5(MAX):c.37-15del rs747340873
NM_004168.4(SDHA):c.622-13del rs3835068
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.302-41T>C rs8176135
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) rs397509121
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+64del rs72434991
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_024675.4(PALB2):c.1684+18TGA[9] rs368593832
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_032043.3(BRIP1):c.380-28G>A rs4988343

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