ClinVar Miner

Variants from ARUP Institute,ARUP Laboratories with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from ARUP Institute,ARUP Laboratories: Collection method of the submission from ARUP Institute,ARUP Laboratories:
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
1139 235 32 138 22 5 101 262

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
ARUP Institute,ARUP Laboratories pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 26 119 89 6 2 1 1
uncertain significance 5 2 3 13 6 0 0
likely benign 0 0 1 1 2 0 0
benign 4 3 6 17 2 0 3

Submitter to submitter summary #

Total submitters: 48
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
Counsyl 0 79 3 57 5 0 60 125
Invitae 0 127 0 13 8 0 22 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 101 0 10 4 4 17 35
GeneDx 0 93 4 10 4 0 10 28
Database of Curated Mutations (DoCM) 0 1 0 17 0 0 1 18
Ambry Genetics 0 42 0 4 9 0 4 17
Illumina Clinical Services Laboratory,Illumina 0 18 1 12 1 0 3 17
Integrated Genetics/Laboratory Corporation of America 0 46 0 8 0 0 6 14
PreventionGenetics 0 22 0 5 7 0 1 13
GeneReviews 0 15 11 0 0 0 0 11
Gharavi Laboratory,Columbia University 0 9 3 7 0 0 0 10
OMIM 0 75 5 0 0 1 3 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 72 0 7 0 0 2 9
Athena Diagnostics Inc 0 17 5 2 0 0 1 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 16 0 5 1 0 0 6
ARUP Institute,ARUP Laboratories 1614 16 5 0 0 0 1 6
Fulgent Genetics 0 20 1 3 0 0 1 5
CSER_CC_NCGL; University of Washington Medical Center 0 6 1 1 1 0 2 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 17 0 1 1 0 3 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 2 0 1 0 1 4
Mendelics 0 9 0 0 2 0 2 4
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 3 0 0 1 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 20 0 2 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 1 2 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 5 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 1 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 1 0 1 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 1 1 0 0 0 2
Center for Human Genetics, Inc 0 3 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
GeneKor MSA 0 2 0 1 0 0 0 1
Genetic Diagnostic Laboratory,University of Szeged 0 7 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
Color 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
True Health Diagnostics 0 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 262
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000060.4(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) rs397514404
NM_000060.4(BTD):c.1459del (p.Trp487Glyfs) rs397514423
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.3(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.3(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.1052delC (p.Pro351Leufs) rs111033813
NM_000155.3(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.3(GALT):c.1059+24G>A rs111033840
NM_000155.3(GALT):c.1060-1G>A rs367543268
NM_000155.3(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.3(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.3(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.3(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.3(GALT):c.18delC (p.Asp7Ilefs) rs111033638
NM_000155.3(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.3(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.3(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.3(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.3(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.3(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.3(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.3(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.3(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.3(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.3(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.3(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.3(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.3(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs) rs111033634
NM_000155.3(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.3(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.3(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.3(GALT):c.508-29delT rs111033711
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.3(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.3(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.3(GALT):c.564+15G>A rs111033732
NM_000155.3(GALT):c.564+1G>A rs111033723
NM_000155.3(GALT):c.565-2A>G rs111033731
NM_000155.3(GALT):c.598delC (p.Gln200Serfs) rs111033738
NM_000155.3(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.3(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.3(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.3(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.3(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.652delC (p.Leu218Terfs) rs111033742
NM_000155.3(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.3(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.3(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.3(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.3(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) rs111033762
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.3(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.3(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000155.3(GALT):c.821-46G>T rs111033776
NM_000155.3(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.3(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.3(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.3(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.3(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.3(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.3(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.3(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.3(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.3(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.3(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.3(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.3(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.3(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.3(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.3(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.3(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000495.4(COL4A5):c.1032+5G>T rs104886315
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.4(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.4(COL4A5):c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del) rs104886321
NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_000495.4(COL4A5):c.1779+1G>A
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.4(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) rs104886374
NM_000495.4(COL4A5):c.351_359delACCTCAAGG (p.Pro118_Gly120del) rs104886390
NM_000495.4(COL4A5):c.3685G>A (p.Gly1229Ser)
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.4(COL4A5):c.4177delC (p.Gln1393Lysfs) rs281874729
NM_000495.4(COL4A5):c.4511-345A>G
NM_000495.4(COL4A5):c.4613G>C (p.Trp1538Ser) rs104886293
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.4(COL4A5):c.4691G>C (p.Cys1564Ser) rs104886287
NM_000495.4(COL4A5):c.4793C>T (p.Ser1598Phe)
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_001258332.1(GALT):c.125T>C (p.Val42Ala) rs111033701
NM_001258332.1(GALT):c.485A>G (p.Glu162Gly) rs111033765
NM_001258332.1(GALT):c.805A>G (p.Ile269Val) rs111033819
NM_001281723.2(BTD):c.104_110delGCGGCTGinsTCC (p.Cys35Phefs) rs80338684
NM_001281723.2(BTD):c.106G>A (p.Gly36Ser) rs119103232
NM_001281723.2(BTD):c.1112C>T (p.Pro371Leu) rs397514400
NM_001281723.2(BTD):c.1164G>A (p.Trp388Ter) rs397514434
NM_001281723.2(BTD):c.1211A>G (p.Asn404Ser) rs201023772
NM_001281723.2(BTD):c.1213T>G (p.Phe405Val) rs104893686
NM_001281723.2(BTD):c.1217C>T (p.Thr406Ile) rs397514405
NM_001281723.2(BTD):c.1233_1247delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp411Cysfs) rs672601248
NM_001281723.2(BTD):c.1315C>G (p.Leu439Val) rs1553654107
NM_001281723.2(BTD):c.1340G>A (p.Gly447Glu) rs397514402
NM_001281723.2(BTD):c.1472A>C (p.Asn491Thr) rs104893692
NM_001281723.2(BTD):c.1495C>T (p.Pro499Ser) rs138818907
NM_001281723.2(BTD):c.1537C>G (p.Gln513Glu) rs397514427
NM_001281723.2(BTD):c.1618C>A (p.Arg540Ser) rs80338686
NM_001281723.2(BTD):c.1618C>T (p.Arg540Cys) rs80338686
NM_001281723.2(BTD):c.1625A>G (p.Tyr542Cys) rs397514431
NM_001281723.2(BTD):c.1635C>A (p.Asp545Glu) rs146136265
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001281723.2(BTD):c.242G>A (p.Arg81His) rs397514343
NM_001281723.2(BTD):c.251C>T (p.Ala84Val) rs397507171
NM_001281723.2(BTD):c.254T>C (p.Leu85Ser) rs397514347
NM_001281723.2(BTD):c.267C>T (p.Asn89=) rs147057169
NM_001281723.2(BTD):c.284A>G (p.Tyr95Cys) rs397514348
NM_001281723.2(BTD):c.327T>G (p.Ile109Met) rs1024847163
NM_001281723.2(BTD):c.340G>C (p.Glu114Gln) rs397514352
NM_001281723.2(BTD):c.347G>T (p.Gly116Val) rs375712490
NM_001281723.2(BTD):c.362A>G (p.Asn121Ser) rs397514353
NM_001281723.2(BTD):c.405G>A (p.Pro135=) rs181743799
NM_001281723.2(BTD):c.430C>A (p.Pro144Thr) rs397514357
NM_001281723.2(BTD):c.449G>A (p.Arg150His) rs367902696
NM_001281723.2(BTD):c.465G>A (p.Glu155=) rs397514360
NM_001281723.2(BTD):c.475C>T (p.Arg159Cys) rs397514363
NM_001281723.2(BTD):c.491C>T (p.Ala164Val) rs397514364
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281723.2(BTD):c.521A>G (p.Asn174Ser) rs397514366
NM_001281723.2(BTD):c.534G>T (p.Lys178Asn) rs397514367
NM_001281723.2(BTD):c.563G>A (p.Cys188Tyr) rs397514369
NM_001281723.2(BTD):c.589A>G (p.Asn197Asp) rs397514370
NM_001281723.2(BTD):c.601G>A (p.Val201Met) rs397514375
NM_001281723.2(BTD):c.635A>G (p.Tyr212Cys) rs397507174
NM_001281723.2(BTD):c.647A>G (p.Asn216Ser) rs397514377
NM_001281723.2(BTD):c.688G>T (p.Asp230Tyr) rs397514380
NM_001281723.2(BTD):c.707C>T (p.Thr236Ile) rs587783005
NM_001281723.2(BTD):c.740G>A (p.Cys247Tyr) rs397507175
NM_001281723.2(BTD):c.763C>T (p.Pro255Ser) rs397514383
NM_001281723.2(BTD):c.770T>C (p.Ile257Thr) rs397514384
NM_001281723.2(BTD):c.839T>C (p.Leu280Pro) rs397514389
NM_001281723.2(BTD):c.886A>G (p.Ile296Val) rs35976361
NM_001281723.2(BTD):c.904A>C (p.Asn302His) rs587783006
NM_001281723.2(BTD):c.940G>A (p.Gly314Ser) rs397514396
NM_001281723.2(BTD):c.941G>A (p.Gly314Asp) rs377651057
NM_001281723.2(BTD):c.974A>G (p.His325Arg) rs397507176
NM_001281724.2(BTD):c.-216C>T rs114567021
NM_001281724.2(BTD):c.1177C>T (p.Pro393Ser) rs35034250
NM_001281724.2(BTD):c.1243G>A (p.Gly415Ser) rs374141881
NM_001281724.2(BTD):c.1258T>C (p.Cys420Arg) rs397514408
NM_001281724.2(BTD):c.1273T>C (p.Cys425Arg) rs397514412
NM_001281724.2(BTD):c.1277G>A (p.Cys426Tyr) rs397514335
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1358_1359del (p.Gly453Aspfs) rs1553654142
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001281724.2(BTD):c.208_211dup (p.Leu71Hisfs) rs1205964567
NM_001281724.2(BTD):c.370A>G (p.Arg124Gly) rs397514354
NM_001281724.2(BTD):c.632G>A (p.Arg211His) rs398123139
NM_001281724.2(BTD):c.651C>T (p.Leu217=) rs145388314
NM_001281724.2(BTD):c.749T>C (p.Ile250Thr) rs397514382
NM_001281725.2(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001281725.2(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001281725.2(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001281725.2(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001281725.2(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001281725.2(BTD):c.1334dup (p.Leu446Serfs) rs397514440
NM_001281725.2(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001281725.2(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001281725.2(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001281725.2(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001281725.2(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001281725.2(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001281725.2(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001323582.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.425-6A>G rs377767327
NM_005359.5(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_020630.4(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.4(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.4(RET):c.1760-12G>A rs377767392
NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.4(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.4(RET):c.1846_1848delGAG (p.Glu616del) rs377767399
NM_020975.4(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.4(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.4(RET):c.1867G>A (p.Glu623Lys) rs377767402
NM_020975.4(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.4(RET):c.1893C>T (p.Asp631=) rs55846256
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.4(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.4(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.4(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.4(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.4(RET):c.2052G>A (p.Pro684=) rs145122337
NM_020975.4(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.4(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2342A>G (p.Gln781Arg) rs377767416
NM_020975.4(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.4(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.4(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.4(RET):c.2647G>A (p.Ala883Thr) rs377767428
NM_020975.4(RET):c.2647_2648delGCinsTT (p.Ala883Phe) rs377767429
NM_020975.4(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.4(RET):c.2673G>A (p.Ser891=) rs201620214
NM_020975.4(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_020975.4(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.5(RET):c.1013C>T (p.Thr338Ile) rs377767433
NM_020975.5(RET):c.1529C>T (p.Ala510Val) rs201745826
NM_020975.5(RET):c.1539G>A (p.Ala513=) rs761430718
NM_020975.5(RET):c.1642G>A (p.Gly548Ser) rs374461212
NM_020975.5(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_033380.2(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.2(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NP_203699.1:p.?

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