ClinVar Miner

Variants from CSER _CC_NCGL, University of Washington with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from CSER _CC_NCGL, University of Washington: Collection method of the submission from CSER _CC_NCGL, University of Washington:
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
416 161 9 65 135 3 51 231

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
CSER _CC_NCGL, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 2 1 0 0 1 0
likely pathogenic 16 0 3 0 0 0 0
uncertain significance 19 20 7 84 43 0 0
likely benign 9 6 41 1 46 1 1
benign 0 0 0 1 1 0 0

Submitter to submitter summary #

Total submitters: 73
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
Invitae 0 63 0 17 39 1 10 67
Illumina Clinical Services Laboratory,Illumina 0 37 0 8 23 0 7 38
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 17 8 6 23 0 0 37
GeneDx 0 41 0 5 24 0 8 37
Integrated Genetics/Laboratory Corporation of America 0 24 0 11 25 0 1 37
Mendelics 0 22 0 14 11 0 3 28
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 31 0 6 15 0 1 22
Quest Diagnostics Nichols Institute San Juan Capistrano 0 9 0 2 16 0 1 19
PreventionGenetics, PreventionGenetics 0 11 0 2 10 0 1 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 10 0 4 7 0 2 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 17 0 0 11 0 2 13
OMIM 0 2 0 2 2 1 6 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 10 0 5 6 0 0 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 17 0 3 4 0 4 11
Genetic Services Laboratory, University of Chicago 0 10 0 2 7 0 1 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 7 0 2 4 0 0 6
Athena Diagnostics Inc 0 0 0 1 2 0 2 5
Counsyl 0 13 0 1 4 0 0 5
GeneReviews 0 3 0 0 0 0 5 5
Blueprint Genetics 0 8 0 2 1 0 2 5
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 4 0 0 4
Ambry Genetics 0 10 0 3 0 0 1 4
Natera, Inc. 0 3 0 2 2 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 9 0 1 2 0 1 4
Center for Medical Genetics Ghent,University of Ghent 0 3 0 0 4 0 0 4
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 2 0 2 0 0 2 4
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 4 1 1 1 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 6 0 1 2 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 1 0 1 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 2 0 1 3
Color Health, Inc 0 3 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 10 0 2 1 0 0 3
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 3 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 1 2
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 1 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 1 2
Department of Pathology and Molecular Medicine,Queen's University 0 0 0 0 2 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 0 2 0 0 2
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 0 2 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 2 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 3 0 0 2 0 0 2
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 1 2
Baylor Genetics 0 5 0 0 1 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 1 0 0 1
King Laboratory,University of Washington 0 0 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 1 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 0 0 0 1 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 1 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 1 0 0 1 0 0 1
CeMIA 0 0 0 0 1 0 0 1
Nilou-Genome Lab 0 1 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 231
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) rs143677764
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1418C>T (p.Ser473Leu) rs63751403
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000264.5(PTCH1):c.395-1G>A rs368869806
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) rs138925964
NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) rs41267007
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000337.5(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000384.3(APOB):c.1648G>C (p.Asp550His) rs145862664
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_002354.3(EPCAM):c.426-1G>A rs373597944
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.4(PCSK9):c.1399C>G rs772677312
NM_181798.1(KCNQ1):c.1418C>T (p.Thr473Met) rs34516117
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_212472.2(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303

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