ClinVar Miner

Variants from Baylor Miraca Genetics Laboratories, with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Baylor Miraca Genetics Laboratories,: Collection method of the submission from Baylor Miraca Genetics 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
804 287 47 217 80 11 120 375

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
Baylor Miraca Genetics Laboratories, pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 29 96 29 8 1 9 2
likely pathogenic 33 0 15 1 2 0 0
uncertain significance 51 30 0 18 15 1 0
likely benign 1 0 0 1 0 0 0
benign 0 1 56 88 17 0 0

Submitter to submitter summary #

Total submitters: 103
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
GeneDx 0 270 0 27 18 0 40 85
OMIM 0 175 0 18 3 11 33 64
Ambry Genetics 0 163 0 36 5 0 13 54
Illumina Clinical Services Laboratory,Illumina 0 37 0 43 3 0 8 54
Counsyl 0 101 0 45 1 0 6 52
Invitae 0 248 0 14 16 0 16 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 153 0 12 17 1 13 43
GeneReviews 0 28 29 0 0 0 10 39
Genetic Services Laboratory, University of Chicago 0 55 0 16 11 0 4 31
Color 0 116 0 27 1 0 3 31
Breast Cancer Information Core (BIC) (BRCA2) 0 38 0 0 26 0 0 26
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 46 0 20 1 0 2 23
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 17 1 4 0 0 22
Integrated Genetics/Laboratory Corporation of America 0 139 0 12 5 0 2 19
PreventionGenetics 0 80 0 12 6 0 0 18
Fulgent Genetics 0 85 0 18 0 0 0 18
Breast Cancer Information Core (BIC) (BRCA1) 0 35 0 0 18 0 0 18
True Health Diagnostics 0 11 0 17 0 0 0 17
Database of Curated Mutations (DoCM) 0 0 0 16 0 0 0 16
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 14 0 0 0 14
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 119 0 13 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 9 0 0 4 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 77 0 13 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 92 0 5 3 0 4 12
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 10 0 7 1 0 3 11
Quest Diagnostics Nichols Institute San Juan Capistrano 0 44 0 10 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 23 0 3 4 0 3 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 62 0 10 0 0 0 10
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 26 0 7 2 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 118 0 5 1 0 2 8
Athena Diagnostics Inc 0 15 0 1 5 0 1 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 46 0 7 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 13 0 2 1 0 4 7
Pathway Genomics 0 13 0 7 0 0 0 7
CSER_CC_NCGL; University of Washington Medical Center 0 6 0 4 1 0 2 7
UCLA Clinical Genomics Center, UCLA 0 5 0 4 0 0 2 6
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 2 0 0 3 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 11 0 4 0 0 1 5
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 7 0 0 5 0 0 5
Vantari Genetics 0 7 0 3 1 0 0 4
Mendelics 0 17 0 1 0 0 2 3
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 15 0 1 1 0 1 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 3 0 0 0 3
Blueprint Genetics, 0 8 0 1 0 0 2 3
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 1 0 0 2 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 5 0 3 0 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 0 5 0 3 0 0 0 3
Center for Human Genetics, Inc 0 7 0 0 1 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 15 0 2 0 0 0 2
Michigan Medical Genetics Laboratories,University of Michigan 0 74 0 1 1 0 0 2
Sharing Clinical Reports Project (SCRP) 0 82 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 1 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 2 0 0 0 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 1 0 0 1 2
Institute of Human Genetics,Klinikum rechts der Isar 0 8 0 1 0 0 1 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 0 2 2
Center for Medical Genetics Ghent,University of Ghent 0 3 0 0 0 0 2 2
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 0 0 0 2 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 1 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 7 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 4 0 1 0 0 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 1447 18 0 0 0 0 1 1
Claritas Genomics 0 2 0 1 0 0 0 1
Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences 0 0 0 1 0 0 0 1
PXE International 0 1 0 0 0 0 1 1
RettBASE 0 1 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 0 0 0 0 1
ISCA site 1 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 1 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 3 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 12 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 5 0 1 0 0 0 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 6 0 0 0 0 1 1
Prenatal Medicine Munich,Prenatal Medicine Munich 0 0 0 0 0 0 1 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 7 0 0 0 0 1 1
Muenke lab,National Institutes of Health 0 0 0 0 0 0 1 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 47 0 1 0 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 14 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 2 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 66 0 1 0 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 375
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
Multiple alleles
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000026.3(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.3(ADSL):c.403-4G>A rs373652667
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
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.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
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.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
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.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) rs777488349
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) rs786205168
NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.3(ERCC6):c.2599-26A>G rs4253196
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000152.4(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000257.3(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) rs1057518711
NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000339.2(SLC12A3):c.2576T>C (p.Leu859Pro) rs121909379
NM_000372.4(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000404.3(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000520.5(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.5(HEXA):c.806-7G>A rs770932296
NM_000526.4(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000528.3(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.3(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000702.3(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000834.4(GRIN2B):c.1727_1732delTCTTTG (p.Val576_Phe577del) rs1555111511
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_001001557.3(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001005463.2(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001006657.1(WDR35):c.3091C>T (p.His1031Tyr) rs1553316264
NM_001006657.1(WDR35):c.3203A>G (p.Tyr1068Cys) rs541910371
NM_001018005.1(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128849.1(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001143905.2(C12orf65):c.248delT (p.Val83Glyfs) rs587776508
NM_001164675.1(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_001165963.1(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) rs281865473
NM_001244008.1(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.1(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001256850.1(TTN):c.70215_70218delAGAA (p.Lys23405Asnfs) rs794729340
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001282534.1(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001396.3(DYRK1A):c.1400G>A (p.Arg467Gln) rs797045041
NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) rs797044525
NM_001615.3(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001851.4(COL9A1):c.876+2T>A rs149830493
NM_001854.3(COL11A1):c.2754+5G>A rs1057518666
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) rs558269137
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_003036.3(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003042.3(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003073.4(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003384.2(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003560.3(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332
NM_003560.3(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003560.3(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048
NM_004187.3(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004459.6(BPTF):c.8558T>G (p.Met2853Arg) rs782736894
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004614.4(TK2):c.361C>A (p.His121Asn) rs137854429
NM_004614.4(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004802.3(OTOF):c.3515G>A (p.Arg1172Gln) rs80356605
NM_004985.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005262.2(GFER):c.217del (p.Ala73Profs) rs1555486560
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005529.6(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005767.5(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_005932.3(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.3(MIPEP):c.1534C>G (p.His512Asp) rs779598020
NM_005932.3(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.3(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.3(MIPEP):c.916C>T (p.Leu306Phe) rs143912947
NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006005.3(WFS1):c.2648_2651delTCTT (p.Phe883Serfs) rs797045076
NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.3(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006218.3(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006603.4(STAG2):c.1605T>A (p.Cys535Ter)
NM_006603.4(STAG2):c.1811G>A (p.Arg604Gln)
NM_006603.4(STAG2):c.476A>G (p.Tyr159Cys)
NM_006612.5(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.5(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006657.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) rs398124234
NM_006755.1(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006766.3(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006891.3(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006912.5(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) rs864309661
NM_007075.3(WDR45):c.400C>T (p.Arg134Ter) rs797046101
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
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.1971A>G (p.Gln657=) rs28897679
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.2109A>G (p.Thr703=) rs4986844
NM_007294.3(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
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.3228_3229delAG (p.Gly1077Alafs) rs80357635
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4357+17A>G rs80358180
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
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.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007327.3(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.3(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012062.4(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs) rs1554219474
NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_012200.3(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_014171.5(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_015093.5(TAB2):c.679C>T (p.Arg227Ter)
NM_015713.4(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015895.4(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_015910.6(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_016023.3(OTUD6B):c.647A>G (p.Tyr216Cys) rs1064797103
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_017534.5(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017909.3(RMND1):c.713A>G rs144972972
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018100.3(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018196.3(TMLHE):c.961_962delAT (p.Ile321Leufs) rs782624357
NM_020041.2(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020458.3(TTC7A):c.211G>A (p.Glu71Lys) rs147914967
NM_020639.2(RIPK4):c.488G>A (p.Gly163Asp)
NM_020822.2(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.3(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_022089.3(ATP13A2):c.348-9_351del rs749798211
NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022726.3(ELOVL4):c.215delC (p.Pro72Leufs)
NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_030632.2(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.2(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_032444.3(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032682.5(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_033109.4(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760
NM_033109.4(PNPT1):c.1525G>A (p.Val509Ile) rs146571352
NM_033109.4(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_033360.3(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_058216.2(RAD51C):c.571+5G>A rs145779113
NM_058216.2(RAD51C):c.935G>A (p.Arg312Gln) rs779834376
NM_078480.2(PUF60):c.1381-2A>G rs1057518681
NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del) rs587781234
NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_133378.4(TTN):c.10361-1G>A rs869312099
NM_133378.4(TTN):c.12556C>T (p.Arg4186Ter) rs772235481
NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138425.3(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_138736.2(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_138927.2(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.2(SON):c.3073dupA (p.Met1025Asnfs) rs886039778
NM_138927.2(SON):c.5753_5756delTTAG (p.Val1918Glufs) rs886039773
NM_138927.2(SON):c.6233delC (p.Pro2078Hisfs) rs886039779
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_145860.1(PDCD10):c.474+5G>A rs1553759139
NM_147127.4(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_152594.2(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_173630.3(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098
NM_173660.4(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_178151.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_182641.3(BPTF):c.2366delA (p.Asn789Thrfs) rs1555639076
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194279.3(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198859.3(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989
NM_206933.2(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213607.2(CCDC103):c.461A>C (p.His154Pro) rs145457535

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