ClinVar Miner

Variants from GeneKor MSA with conflicting interpretations

Location: Greece  Primary collection method: clinical testing
Minimum review status of the submission from GeneKor MSA: Collection method of the submission from GeneKor MSA:
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
161 376 13 55 161 5 19 241

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
GeneKor MSA pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor
pathogenic 0 6 8 0 1 0 1
likely pathogenic 34 0 6 0 0 3 0
uncertain significance 1 4 0 148 28 0 0
likely benign 0 0 2 0 7 0 0
benign 0 0 3 8 13 0 0
risk factor 1 1 1 0 0 1 0

Submitter to submitter summary #

Total submitters: 45
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
Ambry Genetics 0 259 0 22 134 4 4 164
Color Diagnostics, LLC DBA Color Health 0 184 0 18 84 1 5 108
Sema4, Sema4 0 108 0 13 41 1 1 56
University of Washington Department of Laboratory Medicine, University of Washington 0 7 0 4 18 0 0 22
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 13 0 0 0 0 13
GeneDx 0 84 0 9 0 0 0 9
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 24 0 1 6 1 1 9
True Health Diagnostics 0 14 0 3 5 0 1 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 45 0 1 2 0 5 8
Mayo Clinic Laboratories, Mayo Clinic 0 34 0 6 0 0 1 7
Invitae 0 38 0 4 2 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 48 0 5 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 43 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 4 0 0 0 4
Revvity Omics, Revvity 0 26 0 3 0 0 0 3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 12 0 1 1 0 1 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 2 0 1 0 3
CeGaT Center for Human Genetics Tuebingen 0 27 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 3 0 0 0 3
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 2 0 0 0 0 3 3
OMIM 0 2 0 1 0 1 0 2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 30 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 13 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 37 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 0 3 0 1 1 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 31 0 2 0 0 0 2
Vantari Genetics 0 2 0 2 0 0 0 2
Leiden Open Variation Database 0 1 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 12 0 2 0 0 0 2
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 62 0 2 0 0 0 2
Baylor Genetics 0 17 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 5 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 12 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 35 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 18 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 0 0 0 1
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 12 0 0 0 0 1 1
CZECANCA consortium 0 9 0 1 0 0 0 1
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 0 4 0 1 0 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 0 0 0 0 0 0 1 1
BRCAlab, Lund University 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
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_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04289
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000075.4(CDK4):c.886C>T (p.His296Tyr) rs2227954 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys) rs375261439 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs) rs587780262 0.00006
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 0.00005
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000251.3(MSH2):c.183G>T (p.Gln61His) rs751082926 0.00004
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=) rs200280309 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_005591.4(MRE11):c.305G>T (p.Gly102Val) rs199736271 0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.2780C>G (p.Ala927Gly) rs587781500 0.00002
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile) rs907886109 0.00002
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000535.7(PMS2):c.852A>G (p.Ser284=) rs766177007 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_004360.5(CDH1):c.344C>T (p.Thr115Met) rs370973869 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr) rs753721331 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln) rs376934727 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874 0.00001
NM_000546.6(TP53):c.376-2dup rs751253294 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser) rs376872829 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn) rs201141645 0.00001
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr) rs749056300 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg) rs80357460 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_024675.4(PALB2):c.292A>G (p.Ile98Val) rs587782831 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032043.3(BRIP1):c.10A>G (p.Met4Val) rs45512093 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000057.4(BLM):c.955C>T (p.Leu319Phe) rs1567036793
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly) rs80358588
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln) rs1566228768
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn) rs745817393
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr) rs80358855
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr) rs80358868
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe) rs587782136
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln) rs80359145
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.2622C>T (p.Ile874=) rs1200093419
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val) rs780702096
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys) rs876659527
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu) rs80357459
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) rs786203979
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) rs80357428
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620

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