ClinVar Miner

Variants from True Health Diagnostics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from True Health Diagnostics: Collection method of the submission from True Health Diagnostics:
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
18 115 42 363 205 6 19 456

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
True Health Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 2 8 4 0 0 3 0
likely pathogenic 1 0 4 0 0 0 0
uncertain significance 1 3 4 54 18 0 0
likely benign 4 0 130 7 313 1 1
benign 2 1 21 41 29 0 0
risk factor 1 1 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 66
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 0 214 0 280 55 0 2 337
Ambry Genetics 0 295 0 180 29 1 1 211
GeneDx 0 236 0 177 23 0 0 200
Color 0 228 0 161 31 1 0 193
PreventionGenetics 0 142 0 175 14 1 2 192
Integrated Genetics/Laboratory Corporation of America 0 106 1 121 38 1 2 163
Quest Diagnostics Nichols Institute San Juan Capistrano 0 118 0 99 11 1 1 112
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 63 0 88 11 0 0 99
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 62 0 84 5 1 0 90
Department of Pathology and Laboratory Medicine,Sinai Health System 0 55 0 76 11 1 0 88
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 34 14 22 1 0 71
Counsyl 0 158 0 47 19 1 1 67
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 73 0 51 13 0 0 64
Illumina Clinical Services Laboratory,Illumina 0 115 0 34 15 0 0 49
Breast Cancer Information Core (BIC) (BRCA2) 0 14 0 11 29 0 2 42
Sharing Clinical Reports Project (SCRP) 0 27 0 36 3 0 0 39
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 35 0 37 1 0 0 38
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 60 0 17 17 0 0 34
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 15 10 19 5 0 0 34
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 38 0 32 1 0 0 33
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 30 0 30 2 0 0 32
Michigan Medical Genetics Laboratories,University of Michigan 0 20 0 29 1 0 0 30
Mendelics 0 45 0 6 19 1 3 29
Breast Cancer Information Core (BIC) (BRCA1) 0 4 0 5 22 0 1 28
Pathway Genomics 0 31 0 24 2 0 0 26
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 18 0 17 7 1 0 25
Genetic Services Laboratory, University of Chicago 0 63 0 15 8 0 0 23
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 34 0 22 1 0 0 23
Vantari Genetics 0 25 0 17 3 0 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 21 0 18 1 0 0 19
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 13 0 18 1 0 0 19
Baylor Miraca Genetics Laboratories, 0 11 0 17 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 30 0 2 10 0 3 15
OMIM 0 6 0 0 5 4 5 14
Athena Diagnostics Inc 0 6 0 12 2 0 0 14
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 24 0 12 2 0 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 23 0 9 1 1 0 11
Fulgent Genetics 0 34 0 9 1 0 0 10
PALB2 database 0 10 0 7 3 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 0 29 0 3 7 0 0 10
GeneKor MSA 0 24 0 4 5 0 1 10
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 4 0 4 4 0 1 9
University of Washington Department of Laboratory Medicine,University of Washington 0 10 0 1 6 0 2 9
Center for Human Genetics, Inc 0 7 0 1 6 1 0 8
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 41 0 7 1 0 0 8
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 11 0 6 1 0 0 7
GeneReviews 0 2 2 0 0 1 3 6
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 14 0 1 4 0 0 5
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 3 0 0 5 0 0 5
Department of Pathology and Molecular Medicine,Queen's University 0 4 0 3 1 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 3 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 6 0 0 2 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 5 0 0 2 0 0 2
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Department of Medical Genetics,University Hospital of North Norway 0 5 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 1 1
ARUP Institute,ARUP Laboratories 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 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 Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
ClinGen CDH1 Variant Curation Expert Panel 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 456
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
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.3471G>A (p.Glu1157=) rs143927847
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
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.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.8068G>A (p.Ala2690Thr) rs140868933
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
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.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
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.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1875T>A (p.Phe625Leu) rs80358478
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.3392G>A (p.Arg1131Lys) rs1555283214
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) rs45484897
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5688A>G (p.Ala1896=) rs768907899
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000075.3(CDK4):c.522+8G>A rs758294834
NM_000075.3(CDK4):c.549C>T (p.Pro183=) rs778696237
NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.3(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.405G>A (p.Gly135=) rs751586391
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2940A>G (p.Glu980=) rs730881818
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) rs373425206
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.603G>A (p.Glu201=) rs587779314
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.264C>A (p.Ile88=) rs56354945
NM_000455.4(STK11):c.369G>A (p.Gln123=) rs140112347
NM_000455.4(STK11):c.787T>C (p.Leu263=) rs372378119
NM_000455.4(STK11):c.816C>T (p.Tyr272=) rs9282859
NM_000455.4(STK11):c.828C>T (p.Gly276=) rs200824447
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.6(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.6(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.6(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.97-6C>T rs35117667
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.129C>T (p.Asn43=) rs141679570
NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) rs74318065
NM_001128425.1(MUTYH):c.1449C>T (p.Thr483=) rs150269172
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1600C>T (p.Arg534Trp) rs144616312
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128425.1(MUTYH):c.505-4A>G rs201678305
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_001256849.1(POLD1):c.56G>A (p.Arg19His) rs3218773
NM_002354.2(EPCAM):c.159A>C (p.Ala53=) rs150562209
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) rs74531854
NM_002354.2(EPCAM):c.5C>T (p.Ala2Val) rs201402370
NM_002354.2(EPCAM):c.76+6G>T rs774722931
NM_002354.2(EPCAM):c.831A>G (p.Ile277Met) rs115283528
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002691.3(POLD1):c.1061C>T (p.Ala354Val) rs140990974
NM_002691.3(POLD1):c.1138-8A>G rs41544624
NM_002691.3(POLD1):c.1173C>T (p.Asp391=) rs2230244
NM_002691.3(POLD1):c.1539G>A (p.Leu513=) rs2230246
NM_002691.3(POLD1):c.1548C>T (p.Ala516=) rs2230247
NM_002691.3(POLD1):c.1620C>T (p.Gly540=) rs140216790
NM_002691.3(POLD1):c.1665C>T (p.Val555=) rs150238541
NM_002691.3(POLD1):c.1713C>T (p.Pro571=) rs2230248
NM_002691.3(POLD1):c.1761C>T (p.Ile587=) rs3218755
NM_002691.3(POLD1):c.1795G>A (p.Ala599Thr) rs149569984
NM_002691.3(POLD1):c.1860G>A (p.Thr620=) rs1726790
NM_002691.3(POLD1):c.1869G>T (p.Arg623=) rs748380365
NM_002691.3(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002691.3(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002691.3(POLD1):c.2103C>T (p.Tyr701=) rs201483538
NM_002691.3(POLD1):c.2185G>A (p.Glu729Lys) rs200931999
NM_002691.3(POLD1):c.234C>G (p.Arg78=) rs2228665
NM_002691.3(POLD1):c.2628C>T (p.Ile876=) rs75874199
NM_002691.3(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.3(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.3(POLD1):c.33C>T (p.Pro11=) rs3218768
NM_002691.3(POLD1):c.378C>T (p.Arg126=) rs145324823
NM_002691.3(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002691.3(POLD1):c.518G>A (p.Ser173Asn) rs1726803
NM_002691.3(POLD1):c.778A>G (p.Ile260Val) rs8105725
NM_002691.3(POLD1):c.783C>T (p.Val261=) rs34269084
NM_002691.3(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002691.3(POLD1):c.849G>T (p.Gln283His) rs113282414
NM_002691.3(POLD1):c.88C>T (p.Arg30Trp) rs3218772
NM_002878.3(RAD51D):c.263+1509C>T rs201506572
NM_002878.3(RAD51D):c.263+1588A>G rs180869630
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_002878.3(RAD51D):c.666A>G (p.Glu222=) rs114012742
NM_002878.3(RAD51D):c.695G>A (p.Arg232Gln) rs28363283
NM_002878.3(RAD51D):c.698A>G (p.Glu233Gly) rs28363284
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) rs150946485
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_004360.4(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.4(CDH1):c.1500C>T (p.Gly500=) rs781317341
NM_004360.4(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.4(CDH1):c.1744C>T (p.Leu582=) rs1801025
NM_004360.4(CDH1):c.1896C>T (p.His632=) rs33969373
NM_004360.4(CDH1):c.2073C>T (p.Ala691=) rs536104508
NM_004360.4(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.4(CDH1):c.2440-6C>G rs139757930
NM_004360.4(CDH1):c.2634C>T (p.Gly878=) rs2229044
NM_004360.4(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.4(CDH1):c.48+5C>G rs77312180
NM_004360.4(CDH1):c.933C>G (p.Leu311=) rs35539711
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004656.3(BAP1):c.1026C>T (p.Ser342=) rs71651686
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.123G>A (p.Thr41=) rs5744734
NM_006231.3(POLE):c.1323G>A (p.Pro441=) rs116573514
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2106G>T (p.Gly702=) rs5744801
NM_006231.3(POLE):c.2174-8G>A rs117409343
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2928C>T (p.Arg976=) rs5744845
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2982C>T (p.Leu994=) rs771463033
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3126G>A (p.Lys1042=) rs5744856
NM_006231.3(POLE):c.3379-5T>C rs5744886
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.5334C>T (p.Ala1778=) rs11146986
NM_006231.3(POLE):c.5496T>C (p.Leu1832=) rs147543146
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.5583A>C (p.Ser1861=) rs5744972
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.6004+5G>T rs372169366
NM_006231.3(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.846C>T (p.Pro282=) rs5744758
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs) rs587780174
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3394A>G (p.Asn1132Asp) rs530464947
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278
NM_007294.3(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_007300.3(BRCA1):c.3063T>C (p.Ser1021=)
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1623G>A (p.Arg541=) rs745665968
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.1935G>A (p.Glu645=) rs141707455
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr) rs200875161
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.2478C>T (p.Asn826=) rs786201885
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_058216.2(RAD51C):c.146-8A>G rs201079501
NM_058216.2(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.2(RAD51C):c.90G>A (p.Ala30=) rs115414895

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