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 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
127 408 28 94 137 13 37 240

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 risk factor other
pathogenic 4 31 9 0 0 6 1
likely pathogenic 33 0 11 1 0 3 0
uncertain significance 9 7 11 102 30 1 0
likely benign 0 0 10 0 9 1 0
benign 1 0 19 21 13 0 0
risk factor 1 1 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 71
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
Color 0 278 0 18 72 1 2 93
Ambry Genetics 0 386 0 28 60 1 1 90
Invitae 0 384 0 35 44 0 2 81
GeneDx 0 317 0 21 28 0 1 50
Integrated Genetics/Laboratory Corporation of America 0 192 0 17 23 1 2 43
Counsyl 0 193 0 28 7 1 1 37
Illumina Clinical Services Laboratory,Illumina 0 38 0 22 4 0 3 28
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 24 2 0 1 0 27
OMIM 0 18 0 8 2 11 6 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 149 0 10 6 1 1 18
Breast Cancer Information Core (BIC) (BRCA1) 0 74 0 3 10 0 4 17
Mendelics 0 103 0 7 8 1 0 16
PreventionGenetics 0 76 0 5 8 1 1 15
University of Washington Department of Laboratory Medicine,University of Washington 0 27 0 8 4 0 2 14
Fulgent Genetics 0 76 0 12 0 0 0 12
Breast Cancer Information Core (BIC) (BRCA2) 0 60 0 1 6 0 5 12
Genetic Services Laboratory, University of Chicago 0 32 0 6 4 0 1 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 94 0 7 2 1 1 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 45 0 8 1 0 1 10
CSER_CC_NCGL; University of Washington Medical Center 0 16 0 2 5 0 3 10
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 122 0 10 0 0 0 10
True Health Diagnostics 0 24 0 4 5 0 1 10
Sharing Clinical Reports Project (SCRP) 0 109 0 6 3 0 0 9
GeneReviews 0 5 4 2 0 1 2 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 53 0 5 2 1 0 8
Pathway Genomics 0 15 0 8 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 58 0 6 1 0 0 7
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 20 0 2 3 0 1 6
Vantari Genetics 0 4 0 4 1 0 0 5
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 11 0 4 1 0 0 5
Athena Diagnostics Inc 0 7 0 1 3 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 69 0 4 0 0 0 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 22 0 2 1 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 6 0 2 1 1 0 4
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 91 0 3 0 0 1 4
Center for Human Genetics, Inc 0 5 0 1 1 1 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 24 0 2 0 0 1 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 14 0 2 0 1 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 21 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 20 0 0 1 0 2 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 203 0 0 0 0 2 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 2 0 2 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 1 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 11 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 58 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 53 0 2 0 0 0 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 0 2 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 34 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 50 0 1 0 0 0 1
Division Human Genetics,Medical University Innsbruck 0 12 0 1 0 0 0 1
PALB2 database 0 6 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 13 0 0 1 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 31 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 4 0 0 0 0 1 1
Dr. Peter K. Rogan Lab,Western University 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 5 0 1 0 0 0 1
Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 4 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 8 0 0 0 0 1 1
ARUP Institute,ARUP Laboratories 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 0 1 0 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 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 3 0 1 0 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 1 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 240
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.5(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
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.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.3614G>A (p.Arg1205His) rs769106895
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
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.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
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.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1733delG (p.Gly578Valfs) rs879255326
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438
NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.425+67A>C rs11571610
NM_000059.3(BRCA2):c.426-89T>C rs3783265
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) rs80359439
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620
NM_000059.3(BRCA2):c.5925delT (p.Cys1975Trpfs) rs1555284465
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.681+56C>T rs2126042
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7805+1G>A rs81002809
NM_000059.3(BRCA2):c.7806-2A>T rs81002836
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9257-83G>A rs9595456
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9472A>G (p.Thr3158Ala) rs786204284
NM_000059.3(BRCA2):c.9501+1G>A rs397508058
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000179.2(MSH6):c.1068T>C (p.Gly356=) rs749752524
NM_000179.2(MSH6):c.1618_1620delCTT (p.Leu540del) rs1064793600
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.91_92delGCinsTG (p.Ala31Cys) rs63749994
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu) rs587782333
NM_000465.3(BARD1):c.1448A>G (p.His483Arg) rs587781874
NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000535.6(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.6(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
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.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
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.847C>T (p.Arg283Cys) rs149633775
NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.2(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.572G>A (p.Arg191Gln) rs369677603
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu) rs374950566
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) rs201141245
NM_002878.3(RAD51D):c.413A>G (p.Asn138Ser) rs201676898
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_002878.3(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
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.2387G>A (p.Arg796Gln) rs587782549
NM_004360.4(CDH1):c.546A>C (p.Lys182Asn) rs201141645
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005431.1(XRCC2):c.190C>T (p.Arg64Ter) rs151110146
NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys) rs375261439
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_005591.3(MRE11):c.1783+7A>G rs774520952
NM_005732.3(RAD50):c.1094G>A (p.Arg365Gln) rs146370443
NM_005732.3(RAD50):c.2288G>A (p.Arg763His) rs141989813
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005732.3(RAD50):c.980G>A (p.Arg327His) rs28903091
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.902delT (p.Leu301Trpfs) rs748005072
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
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.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007294.3(BRCA1):c.*1287C>T rs12516
NM_007294.3(BRCA1):c.*421G>T rs8176318
NM_007294.3(BRCA1):c.-19-115T>C rs3765640
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) rs876659327
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.213-161A>G rs799912
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.302-70G>A rs147809611
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) rs80357169
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs) rs80357720
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.548-58delT rs8176144
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
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.785T>C (p.Val262Ala) rs139790943
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.2747_2748+4delAGGTAA rs786203892
NM_024675.3(PALB2):c.292A>G (p.Ile98Val) rs587782831
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_032043.2(BRIP1):c.10A>G (p.Met4Val) rs45512093
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
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.2947delA (p.Ile983Leufs) rs774684620
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.904+5G>T rs587782702
NM_130799.2(MEN1):c.1434C>T (p.Gly478=) rs200280309
NM_139076.2(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836
NM_139076.2(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472

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