ClinVar Miner

Variants from Centre for Mendelian Genomics,University Medical Centre Ljubljana with conflicting interpretations

Location: Slovenia — Primary collection method: clinical testing
Minimum review status of the submission from Centre for Mendelian Genomics,University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics,University Medical Centre Ljubljana:
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
529 204 27 152 57 13 101 279

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 25 75 33 3 3 1 2 1 5 0
likely pathogenic 82 0 38 7 2 1 1 0 3 1
uncertain significance 25 19 2 50 21 1 0 0 2 1
likely benign 2 0 3 0 2 0 0 0 0 0
risk factor 1 1 2 1 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 140
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
Invitae 0 152 0 35 36 1 29 100
GeneDx 0 142 0 35 21 1 19 75
OMIM 0 107 0 33 0 11 19 57
GeneReviews 0 17 24 14 0 1 7 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 77 0 15 5 3 16 37
Illumina Clinical Services Laboratory,Illumina 0 36 0 7 10 0 14 30
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 58 0 10 8 1 9 28
Counsyl 0 36 0 13 2 1 10 26
Ambry Genetics 0 67 0 11 8 0 6 25
Athena Diagnostics Inc 0 29 0 12 3 0 7 22
Mendelics 0 27 0 6 4 0 12 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 27 0 5 2 2 10 19
Integrated Genetics/Laboratory Corporation of America 0 35 0 7 6 2 3 18
Fulgent Genetics,Fulgent Genetics 0 51 0 17 0 0 1 18
Genetic Services Laboratory, University of Chicago 0 32 0 7 2 1 7 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 34 0 9 3 0 5 17
Color 0 11 0 1 9 0 4 14
Baylor Genetics 0 26 0 10 0 1 1 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 962 39 0 7 0 0 5 11
NIHR Bioresource Rare Diseases, University of Cambridge 0 10 0 8 1 0 3 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 15 0 5 2 0 3 10
PreventionGenetics,PreventionGenetics 0 9 0 1 5 1 2 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 9 0 6 0 2 1 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 4 1 0 5 9
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 5 2 1 4 0 1 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 2 1 0 3 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 11 0 1 2 0 3 6
Institute of Human Genetics,Klinikum rechts der Isar 0 21 0 5 0 1 1 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 4 0 3 0 0 3 6
Inherited Neuropathy Consortium 0 0 0 0 0 0 6 6
Center for Human Genetics, Inc 0 13 0 3 0 0 2 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 3 0 0 2 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 2 0 0 2 4
Blueprint Genetics 0 17 0 3 0 0 1 4
CSER _CC_NCGL, University of Washington 0 4 0 0 3 0 1 4
Center for Medical Genetics Ghent,University of Ghent 0 1 0 4 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 4 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 5 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 2 0 0 2 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 6 0 1 1 0 2 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 4 0 0 1 0 3 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 2 1 0 1 4
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 0 6 0 3 0 0 1 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 3 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 4 0 2 0 0 1 3
Medical Genetics, University of Parma 0 0 0 2 0 0 1 3
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 1 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 2 0 0 2 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 4 0 2 0 0 1 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 5 0 3 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 0 8 0 3 0 0 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 0 0 2 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 3 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 0 2 0 0 2
Sharing Clinical Reports Project (SCRP) 0 3 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 0 0 0 2 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 2 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 0 7 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 6 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 3 0 1 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 0 0 0 2
Raymond Lab,University of Cambridge 0 1 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 5 0 2 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 1 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 2 0 0 2
Genesis Genome Database 0 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 9 0 1 0 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 2 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 3 0 1 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 0 0 1 0 0 0 1
CFTR2 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
PharmGKB 0 0 0 0 0 1 0 1
PALB2 database 0 0 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 5 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 1 0 0 1 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 3 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 6 0 1 0 0 0 1
Pathway Genomics 0 2 0 0 0 0 1 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 3 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
GeneKor MSA 0 8 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 2 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 1 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 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
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Vantari Genetics 0 0 0 0 0 0 1 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
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 1 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 3 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 1 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
True Health Diagnostics 0 2 0 0 0 0 1 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 4 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 279
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.14598T>C rs1057518882
NC_012920.1:m.8084A>G rs1057518824
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.2410-1G>A rs1057518792
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000426.3(LAMA2):c.2450+16A>G rs1024374408
NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000455.4(STK11):c.1208A>G (p.Lys403Arg) rs587781633
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001035.3(RYR2):c.8831-9A>C rs187977513
NM_001040108.1(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001048171.1(MUTYH):c.891+3A>C rs587780751
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) rs1057518789
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu) rs104893617
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp) rs104893613
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.271C>T (p.Arg91Ter) rs765468645
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152
NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) rs515726205
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.11311+4088A>G rs142304137
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.377+5C>T rs200972952
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001390.4(DTNA):c.68-7G>A rs372126412
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.736-2A>G rs1057518925
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003688.3(CASK):c.2506-2A>G rs398122845
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005472.4(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006702.5(PNPLA6):c.3931C>T (p.Arg1311Trp) rs374434303
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.971_973ATT[1] (p.Tyr325del) rs1553548194
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007217.4(PDCD10):c.474+5G>A rs1553759139
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser) rs80357087
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015570.4(AUTS2):c.3377_3379ACC[9] (p.His1133dup) rs538005366
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017946.3(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.492+2T>C rs142433332
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_019023.4(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) rs769234940
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021008.3(DEAF1):c.667G>A (p.Gly223Ser) rs1057518811
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_130837.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_144573.3(NEXN):c.893C>G (p.Thr298Arg) rs200753280
NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_144596.3(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_198056.2(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736
NM_201548.4(CERKL):c.769C>T rs121909398
NM_201548.5(CERKL):c.481+2T>G rs753994107
NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.191dupA rs137854521
Single allele
m.15923A>G rs1556424691
m.3700G>A rs397515508

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