ClinVar Miner

Variants from Institute of Human Genetics, University of Leipzig Medical Center with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
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
1851 364 25 233 85 7 157 451

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
Institute of Human Genetics, University of Leipzig Medical Center pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 24 95 25 5 3 0 2 0
likely pathogenic 101 0 24 1 1 0 1 0
uncertain significance 71 38 1 38 20 1 0 0
likely benign 5 4 28 0 24 0 1 0
benign 4 0 7 13 0 1 1 2

Submitter to submitter summary #

Total submitters: 154
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
OMIM 0 161 0 52 3 3 37 95
Invitae 0 200 0 42 17 1 31 91
Illumina Clinical Services Laboratory,Illumina 0 64 0 17 29 0 11 57
Counsyl 0 53 0 23 6 0 14 43
GeneReviews 0 46 24 10 0 0 7 41
Mendelics 0 50 0 8 16 0 13 37
Baylor Genetics 0 62 0 6 3 0 11 20
LDLR-LOVD, British Heart Foundation 0 10 0 11 1 0 7 19
Integrated Genetics/Laboratory Corporation of America 0 43 0 7 0 0 9 16
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 8 0 4 1 0 9 14
Natera, Inc. 0 29 0 4 4 0 5 13
Sharing Clinical Reports Project (SCRP) 0 23 0 3 4 0 6 13
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 27 0 2 5 0 6 13
Color Health, Inc 0 9 0 4 2 0 7 13
SIB Swiss Institute of Bioinformatics 0 9 0 7 0 0 6 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 27 0 5 5 0 3 13
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 4 0 4 1 0 7 12
Genetic Services Laboratory, University of Chicago 0 32 0 7 0 0 4 11
Institute of Human Genetics, Klinikum rechts der Isar 0 34 0 7 0 0 4 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 16 0 6 4 0 1 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 19 0 5 4 0 1 10
Fulgent Genetics,Fulgent Genetics 0 34 0 5 3 0 2 10
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 7 0 5 1 0 4 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 20 0 3 5 0 2 10
Breast Cancer Information Core (BIC) (BRCA2) 0 12 0 0 1 0 8 9
Robarts Research Institute,Western University 0 4 0 5 1 0 3 9
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 5 1 0 3 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 25 0 2 0 0 6 8
Pathway Genomics 0 5 0 1 5 0 2 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 29 0 6 1 0 1 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 16 0 4 0 0 3 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 14 0 3 0 0 4 7
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 4 0 4 1 0 1 6
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 4 2 0 0 6
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 27 0 1 0 0 5 6
Michigan Medical Genetics Laboratories,University of Michigan 0 10 0 1 3 0 1 5
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 6 0 2 2 0 1 5
Research and Development, ARUP Laboratories 0 3 2 1 1 0 1 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 12 0 4 0 0 1 5
Myriad Women's Health, Inc. 0 20 0 4 0 0 1 5
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 6 0 2 0 0 3 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 11 0 1 3 0 0 4
Breast Cancer Information Core (BIC) (BRCA1) 0 20 0 0 3 0 1 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 6 0 1 0 0 3 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 10 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 7 0 1 0 0 3 4
Fundacion Hipercolesterolemia Familiar 0 8 0 2 2 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 11 0 0 0 0 4 4
Clinical Genomics Program, Stanford Medicine 0 5 0 4 0 0 0 4
Athena Diagnostics Inc 0 7 0 3 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 10 0 0 2 0 1 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 2 0 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 2 3
RettBASE 0 7 0 2 0 0 1 3
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 1 3
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 1 1 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 20 0 1 0 0 2 3
Hadassah Hebrew University Medical Center 0 1 0 2 0 0 1 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 3 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 1 0 1 1 3
Human Genetics - Radboudumc,Radboudumc 0 0 0 2 0 0 1 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 2 0 0 1 3
Nilou-Genome Lab 0 3 0 0 2 0 1 3
Human Developmental Genetics,Institut Pasteur 0 0 0 2 0 0 1 3
GenomeConnect - Simons Searchlight 0 5 0 1 0 0 2 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 1 0 1 2
GeneDx 0 3 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 3 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 6 0 0 0 0 2 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 5 0 0 0 0 2 2
Division of Human Genetics,Medical University Innsbruck 0 4 0 0 0 0 2 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1 2
Blueprint Genetics 0 2 0 1 0 1 0 2
CSER _CC_NCGL, University of Washington 0 2 0 1 0 0 1 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 2
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 6 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 0 2 0 0 0 2
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 0 0 2 0 0 0 2
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 2 2
Center of Medical Genetics and Primary Health Care 0 1 0 0 0 0 2 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 1 0 0 1 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 13 0 1 0 0 1 2
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 1 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 11 0 1 0 0 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 1 0 0 2
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 2 0 1 0 0 1 2
Reproductive Health Research and Development,BGI Genomics 0 5 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 2 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 0 1
MyeliNeuroGene Lab,McGill University Health Center Research Institute 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 3 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genologica Medica 0 6 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 12 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 1 0 0 0 1
Center for Bioinformatics, Peking University 0 3 0 1 0 0 0 1
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 0 0 0 0 0 0 1 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 3 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 7 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 0 0 0 0 1 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 0 0 0 0 0 0 1 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Department of Medical Genetics, University Hospital of North Norway 0 0 0 0 1 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 0 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 7 0 0 0 0 1 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 0 0 0 0 0 1 1
The Genetics Institute,Rambam Health Care Campus 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 5 0 0 1 0 0 1
TIDEX, University of British Columbia 0 1 0 0 1 0 0 1
Iberoamerican FH Network 0 7 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Department of Immunology,University Hospital Southampton NHSFT 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 4 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 1 0 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 0 1
Wessex Regional Genetics Laboratory,Salisbury District Hospital 0 1 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 4 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
CeMIA 0 0 0 0 1 0 0 1
Zarate Arkansas Children's Genetics Clinic,Arkansas Children's Hospital 0 0 0 0 0 0 1 1
LifeCell International Pvt. Ltd 0 1 0 0 0 0 1 1
Paris Brain Institute,Inserm - ICM 0 4 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 451
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.3(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.3(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1813del rs80359306
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4638del rs80359462
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000250.2(MPO):c.2031-2A>C rs35897051
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000267.3(NF1):c.288+5G>A rs1555605409
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
NM_000335.5(SCN5A):c.1141-3C>A rs41312433
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021
NM_000465.4(BARD1):c.1811-2A>G
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) rs879254456
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_000834.4(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.4(GRIN2B):c.1367G>A (p.Cys456Tyr) rs397514555
NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.4(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.4(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.4(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732
NM_001042384.2(CEP63):c.930-1G>A rs752207334
NM_001048171.1(MUTYH):c.502C>T (p.Arg168Cys) rs747993448
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001256310.2(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_001258281.1(MSH2):c.744+25_744+29del rs11309117
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) rs369774476
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001913.5(CUX1):c.61C>T (p.Gln21Ter) rs1562875556
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001958.4(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) rs587781756
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002941.4(ROBO1):c.2929del (p.Ala977fs)
NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter)
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)
NM_003721.4(RFXANK):c.438+5G>A
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004442.7(EPHB2):c.2035G>A (p.Asp679Asn) rs28936395
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004646.3(NPHS1):c.59-5C>G rs114595892
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp) rs182305760
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332
NM_005211.3(CSF1R):c.2541G>C (p.Glu847Asp) rs690016551
NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_005321.3(H1-4):c.365dup (p.Ala123fs)
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs) rs1563983151
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu) rs1573320988
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006920.6(SCN1A):c.965-1G>A rs794726824
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.725C>T (p.Ala242Val) rs61747727
NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)
NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg) rs1596711175
NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) rs1567198751
NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln) rs1596780112
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln) rs1163583945
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016169.3(SUFU):c.1022+1G>A rs587776578
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018082.5(POLR3B):c.1568T>A rs138249161
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019040.5(ELP4):c.*6411T>A rs121907922
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412
NM_020732.3(ARID1B):c.2077G>T (p.Glu693Ter) rs1554294593
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_022154.5(SLC39A8):c.112G>C rs778210210
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) rs121918270
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) rs771613910
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) rs121918275
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) rs121918276
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) rs121918271
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) rs121918272
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) rs121918274
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.212-2A>C rs730881879
NM_024675.3(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_031462.4(CD99L2):c.523G>A (p.Asp175Asn) rs182874251
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032682.6(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)
NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter) rs398122365
NM_152998.3(EZH2):c.149T>C (p.Leu50Ser) rs775407864
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181552.4(CUX1):c.2365del (p.Gln789fs) rs1554519798
NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter) rs1563398977
NM_181552.4(CUX1):c.3164dup (p.Ala1056fs) rs1563446668
NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs) rs1563470335
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.2(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029
NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
Single allele

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