ClinVar Miner

Variants from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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
763 257 1 167 13 8 56 224

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor
pathogenic 1 103 15 1 1 2 3 3
likely pathogenic 64 0 20 2 1 0 1 2
uncertain significance 15 14 0 5 2 0 0 0
likely benign 0 0 6 0 2 0 0 0
benign 0 0 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 148
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 0 103 0 20 8 0 16 44
OMIM 0 111 0 19 0 7 3 29
Baylor Genetics 0 84 0 23 0 0 4 27
Illumina Laboratory Services, Illumina 0 35 0 13 1 0 8 22
Counsyl 0 30 0 18 0 0 2 20
Fulgent Genetics, Fulgent Genetics 0 59 0 11 1 0 0 12
Genome-Nilou Lab 0 31 0 10 1 0 1 12
Revvity Omics, Revvity 0 37 0 7 0 0 4 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 44 0 10 0 0 1 11
Genomics England Pilot Project, Genomics England 0 3 0 10 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 0 56 0 7 0 0 2 9
GeneDx 0 13 0 5 0 0 3 8
Mendelics 0 26 0 6 0 0 2 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 37 0 6 0 0 2 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 14 0 7 0 0 1 8
Natera, Inc. 0 24 0 5 0 0 2 7
3billion 0 32 0 6 0 0 1 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 24 0 5 0 0 1 6
MGZ Medical Genetics Center 0 37 0 4 0 0 2 6
SIB Swiss Institute of Bioinformatics 0 0 0 6 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 25 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 1 0 0 4 5
Myriad Genetics, Inc. 0 36 0 4 1 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 13 0 2 0 0 3 5
Genetic Services Laboratory, University of Chicago 0 28 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 10 0 2 0 0 2 4
PharmGKB 0 0 0 0 0 4 0 4
Robarts Research Institute, Western University 0 1 0 3 0 0 1 4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 3 0 0 1 4
DASA 0 8 0 4 0 0 0 4
All of Us Research Program, National Institutes of Health 0 28 0 3 0 0 1 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 2 0 0 1 3
LDLR-LOVD, British Heart Foundation 0 2 0 3 0 0 0 3
Center for Medical Genetics Ghent, University of Ghent 0 0 0 3 0 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 2 0 0 1 3
Color Diagnostics, LLC DBA Color Health 0 9 0 2 0 0 1 3
CeGaT Center for Human Genetics Tuebingen 0 6 0 2 0 0 1 3
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 2 0 0 1 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 11 0 2 0 0 1 3
Undiagnosed Diseases Network, NIH 0 6 0 2 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 13 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 2 1 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 8 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 4 0 2 0 0 1 3
New York Genome Center 0 13 0 1 0 0 2 3
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 2 3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 5 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 16 0 3 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 6 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 4 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 10 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 10 0 1 0 0 1 2
Sharing Clinical Reports Project (SCRP) 0 24 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 15 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 1 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1233 9 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 2 0 0 0 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 21 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 1 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 1 2
deCODE genetics, Amgen 0 0 0 2 0 0 0 2
Pars Genome Lab 0 0 0 1 0 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 16 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 17 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 7 0 1 0 0 0 1
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 3 0 1 0 0 0 1
Ambry Genetics 0 9 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 13 0 1 0 0 0 1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 0 0 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 1 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 4 0 1 0 0 0 1
GeneReviews 0 41 1 0 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Blueprint Genetics 0 2 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 13 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 22 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 9 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 0 1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 4 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 4 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 6 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 24 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 5 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 4 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 2 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 16 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 11 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 2 0 1 0 0 0 1
Raymond Lab, University of Cambridge 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 14 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 7 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 0 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 0 0 0 1 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 6 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 4 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 3 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 0 1 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Pediatrics, West China Second University Hospital, Sichuan University 0 0 0 1 0 0 0 1
PPA2 laboratory, University of Otago 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 4 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 4 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 3 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 0 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 0 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Giacomini Lab, University of California, San Francisco 0 0 0 0 0 0 1 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 0 0 0 0 1 1
Département de Neurologie, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 5 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 224
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser) rs575635539 0.00166
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_001332.4(CTNND2):c.671C>T (p.Pro224Leu) rs769623284 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) rs202095767 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
NC_012920.1:m.3243A>G rs199474657
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln) rs377550239
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) rs1131692269
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs) rs878853167
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476

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