ClinVar Miner

Variants from Division of Genomic Diagnostics,The Children's Hospital of Philadelphia with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Division of Genomic Diagnostics,The Children's Hospital of Philadelphia: Collection method of the submission from Division of Genomic Diagnostics,The Children's Hospital of Philadelphia:
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
827 391 48 391 309 17 84 661

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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 18 56 5 2 0 0 0 4
likely pathogenic 28 0 9 1 1 0 1 1
uncertain significance 27 35 7 159 81 0 1 5
likely benign 6 5 64 0 102 0 0 2
benign 6 3 72 208 23 1 0 2

Submitter to submitter summary #

Total submitters: 121
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 0 347 0 92 111 3 7 213
Illumina Clinical Services Laboratory,Illumina 0 95 0 124 63 0 6 192
GeneDx 0 314 0 88 80 1 18 187
Ambry Genetics 0 213 0 74 66 0 15 155
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 266 0 61 38 0 4 103
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 138 0 48 42 0 5 94
Color 0 84 0 38 53 0 2 93
PreventionGenetics 0 133 0 57 30 0 2 89
Integrated Genetics/Laboratory Corporation of America 0 132 0 24 42 0 6 72
Genetic Services Laboratory, University of Chicago 0 109 0 44 24 0 3 71
Biesecker Lab/Human Development Section,National Institutes of Health 0 14 28 17 24 0 0 69
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 46 0 44 12 0 0 56
OMIM 0 90 0 10 9 15 19 52
Counsyl 0 76 0 27 18 0 5 50
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 96 0 21 11 0 5 37
GeneReviews 0 17 18 0 3 0 10 30
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 9 15 0 3 27
Department of Pathology and Laboratory Medicine,Sinai Health System 0 21 0 13 13 0 1 27
True Health Diagnostics 0 18 0 17 7 1 0 25
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 35 0 13 11 0 0 24
Quest Diagnostics Nichols Institute San Juan Capistrano 0 23 0 16 7 0 0 23
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 10 0 13 10 0 0 23
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 13 0 16 6 0 0 22
Center for Human Genetics, Inc 0 14 0 10 10 0 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 20 0 11 8 0 1 20
CSER_CC_NCGL; University of Washington Medical Center 0 21 0 7 10 0 3 20
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 21 0 13 7 0 0 20
Athena Diagnostics Inc 0 55 0 8 7 0 3 18
Fulgent Genetics 0 58 0 12 5 0 1 18
Database of Curated Mutations (DoCM) 0 7 0 16 0 0 2 18
Pathway Genomics 0 13 0 10 7 0 0 17
Michigan Medical Genetics Laboratories,University of Michigan 0 11 0 9 6 0 0 15
Sharing Clinical Reports Project (SCRP) 0 10 0 5 10 0 0 15
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 6 0 3 11 0 1 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 23 0 8 6 0 0 14
Breast Cancer Information Core (BIC) (BRCA2) 0 11 0 0 13 0 0 13
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 3 5 3 4 0 0 12
Baylor Miraca Genetics Laboratories, 0 10 0 7 1 0 3 11
Robarts Research Institute,Western University 0 5 0 1 7 0 2 10
Vantari Genetics 0 14 0 6 3 0 0 9
Mendelics 0 13 0 2 5 0 1 8
Blueprint Genetics, 0 7 0 4 4 0 1 8
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 9 0 6 2 0 0 8
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 3 5 0 0 8
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 7 0 6 2 0 0 8
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 10 0 5 2 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 4 3 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 0 3 3 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 2 1 0 3 6
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 3 1 0 2 6
Breast Cancer Information Core (BIC) (BRCA1) 0 7 0 0 5 0 0 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 5 0 1 4 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1869 6 0 3 0 0 1 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 1 0 3 0 0 1 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 1 2 0 1 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 25 0 1 1 0 1 3
LDLR-LOVD, British Heart Foundation 0 3 0 1 2 0 0 3
RettBASE 0 14 0 2 1 0 0 3
GeneKor MSA 0 14 0 2 0 1 0 3
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 1 0 0 1 0 2 3
Fundacion Hipercolesterolemia Familiar 0 2 0 1 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 2 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 0 4 0 0 2 1 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 1 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 0 1 0 1 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 1 0 1 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 1 2
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 2 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 1 0 0 1 2
Pediatric Services,National Institutes of Health, Clinical Center 0 0 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 6 0 0 0 0 2 2
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 0 2
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 3 0 1 1 0 0 2
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 1 1 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 1 2
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 1 0 0 1 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 0 2 0 0 2
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 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 8 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 7 0 1 0 0 1 2
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 2 0 1 1 0 0 2
Iberoamerican FH Network 0 1 0 0 2 0 0 2
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 2 0 1 0 0 1 2
Wessex Regional Genetics Laboratory,Salisbury District Hospital 0 7 0 0 0 0 2 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 5 0 1 0 0 1 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
PALB2 database 0 0 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 9 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 1 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 2 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 0 0 0 1 1
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 1 1
Department of Medical Genetics,University Hospital of North Norway 0 1 0 0 1 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 1 0 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 2 0 1 0 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 1 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 3 0 0 1 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 1 0 0 1
3DMed Clinical Laboratory Inc 0 0 0 0 1 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 4 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 2 0 0 1 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 6 0 0 1 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 661
Download table as spreadsheet
HGVS dbSNP
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000038.5(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.5(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000064.3(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000083.2(CLCN1):c.2284+5C>T rs74824159
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000101.3(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000135.2(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000136.2(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.4(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.4(FGFR2):c.755_756delCGinsTT (p.Ser252Phe) rs121918498
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000286.2(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000303.2(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000332.3(ATXN1):c.624_626dupGCA (p.Gln208_His209insGln) rs193922926
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000369.2(TSHR):c.154C>A (p.Pro52Thr) rs2234919
NM_000377.2(WAS):c.273+10_273+11dupCC rs58371799
NM_000383.3(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000455.4(STK11):c.465-5C>T rs567202367
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000528.3(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000535.5(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.6(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.706-5_706-4delTT rs60794673
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11061_11063delGGA (p.Glu3689del) rs760784102
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) rs1553620312
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000687.3(AHCY):c.-34C>T rs57344541
NM_000709.3(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000717.4(CA4):c.700G>A (p.Val234Ile) rs117704637
NM_000720.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056
NM_000722.3(CACNA2D1):c.1956-5_1956-4dupTT rs3083235
NM_000816.3(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_000828.4(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_001004127.2(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001007027.2(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_001007027.2(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_001007027.2(ALG8):c.96-6G>C rs199911532
NM_001014797.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001031835.2(PHKB):c.534G>T (p.Met178Ile) rs56257827
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001035.2(RYR2):c.13476+8_13476+11dupGTTT rs864309562
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001039141.2(TRIOBP):c.3232C>T (p.Arg1078Cys) rs200359708
NM_001039141.2(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039141.2(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039891.2(ZNF674):c.601C>T (p.Arg201Ter) rs182004761
NM_001039958.1(MESP2):c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) rs56192595
NM_001040113.1(MYH11):c.-17G>C rs767563168
NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) rs771128441
NM_001040616.2(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001080779.1(MYO1C):c.2574A>C (p.Lys858Asn) rs61753652
NM_001083962.1(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_001110792.1(MECP2):c.15_23delCGCCGCCGC (p.Ala6_Ala8del) rs398123566
NM_001127892.1(SALL1):c.1587G>C (p.Glu529Asp) rs80248061
NM_001127892.1(SALL1):c.3581A>G (p.Asn1194Ser) rs74499562
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001128849.1(SMARCA4):c.2275-3C>A rs117611401
NM_001130823.1(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001136113.1(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001145026.1(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303
NM_001145809.1(MYH14):c.2792G>A (p.Arg931His) rs200351672
NM_001166292.1(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_001174051.2(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350
NM_001190241.1(IFT80):c.1453G>A (p.Ala485Thr) rs138161346
NM_001190787.1(MCIDAS):c.739C>T (p.Arg247Trp) rs199825346
NM_001195249.1(APTX):c.484-3delT rs373304582
NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) rs9332747
NM_001197104.1(KMT2A):c.1810A>G (p.Met604Val) rs150328852
NM_001199282.2(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001203.2(BMPR1B):c.418G>A (p.Val140Ile) rs138801821
NM_001204.6(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545
NM_001243133.1(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001256041.1(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661
NM_001256849.1(POLD1):c.2007-4G>A rs202035484
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655
NM_001271.3(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.1(NEB):c.20467-4delT rs10687343
NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.1(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271561.2(PRNP):c.139C>T (p.Pro47Ser) rs112637437
NM_001277115.1(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) rs183470913
NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) rs191662816
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001303.3(COX10):c.773T>A (p.Leu258His) rs587780911
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001844.4(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490
NM_001844.4(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001958.3(EEF1A2):c.1375_1383delCAGAAGGCG (p.Gln459_Ala461del) rs879255373
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) rs558269137
NM_002241.4(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002291.2(LAMB1):c.476C>G (p.Thr159Ser) rs140146478
NM_002408.3(MGAT2):c.99G>T (p.Lys33Asn) rs140584714
NM_002474.2(MYH11):c.4578+3A>G rs143288748
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002615.5(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002878.3(RAD51D):c.196G>A (p.Val66Met) rs56026142
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003052.4(SLC34A1):c.284G>A (p.Arg95His) rs145798898
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.555-19C>G rs75057928
NM_003179.2(SYP):c.868G>T (p.Gly290Trp) rs376222680
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003721.3(RFXANK):c.337+4C>T rs187331767
NM_003865.2(HESX1):c.525G>A (p.Ala175=) rs141063672
NM_003923.2(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.290dupA (p.Tyr97Terfs) rs786204491
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.5(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.5(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) rs587783647
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.508_511dup (p.Ala171Glufs) rs773528125
NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004304.4(ALK):c.3271G>A (p.Asp1091Asn) rs864309584
NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.4(ALK):c.3520T>C (p.Phe1174Leu) rs281864719
NM_004304.4(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.4(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.4(ALK):c.3522C>G (p.Phe1174Leu) rs863225281
NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.4(ALK):c.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.4(BRAF):c.2128-5dupT rs373442098
NM_004366.5(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822
NM_004366.5(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004387.3(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004403.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247
NM_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.2(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004452.3(ESRRB):c.1427G>A (p.Arg476His) rs200237229
NM_004525.2(LRP2):c.13685T>C (p.Val4562Ala) rs142245618
NM_004525.2(LRP2):c.2006G>A (p.Gly669Asp) rs34291900
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356
NM_004531.4(MOCS2):c.367C>T (p.His123Tyr) rs2233218
NM_004543.4(NEB):c.15364-5_15364-4dupTT rs10687343
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004722.3(AP4M1):c.930G>A (p.Arg310=) rs141754568
NM_004821.2(HAND1):c.247G>T (p.Gly83Trp) rs201302313
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004999.3(MYO6):c.1224-4A>G rs144031818
NM_004999.3(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005002.4(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005045.3(RELN):c.-12_-1dupGGCGGCGGCGGC rs55656324
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) rs398124200
NM_005236.2(ERCC4):c.974-6T>C rs201181735
NM_005249.4(FOXG1):c.218_220dupAGC (p.Gln73_Pro74insGln) rs398124201
NM_005249.4(FOXG1):c.234_236dupGCC (p.Pro80_Ala81insPro) rs786200975
NM_005562.2(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074
NM_005609.3(PYGM):c.999+20C>T rs201711087
NM_005629.3(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.3(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005709.3(USH1C):c.1261G>A (p.Gly421Ser) rs115931035
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005902.3(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006031.5(PCNT):c.467A>G (p.His156Arg) rs61735825
NM_006031.5(PCNT):c.6739C>T (p.His2247Tyr) rs61735812
NM_006206.5(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006302.2(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006415.3(SPTLC1):c.781-6A>G rs138268337
NM_006594.4(AP4B1):c.767C>T (p.Thr256Ile) rs143286419
NM_006610.3(MASP2):c.359A>G (p.Asp120Gly) rs72550870
NM_006662.2(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.2(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006922.3(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_006982.2(ALX1):c.191G>T (p.Arg64Leu) rs115596276
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007315.3(STAT1):c.1222-5T>C rs191364028
NM_012213.2(MLYCD):c.206C>T (p.Ala69Val) rs200579941
NM_012414.3(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_013254.3(TBK1):c.964C>T (p.His322Tyr) rs145905497
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_014008.4(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955
NM_014254.2(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.3(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087
NM_014795.3(ZEB2):c.2870G>A (p.Arg957Gln) rs371509136
NM_014795.3(ZEB2):c.3067+6A>T rs143450927
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015100.3(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu) rs55889738
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015631.5(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015662.2(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015702.2(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015937.5(PIGT):c.1067G>A (p.Arg356Gln) rs139366969
NM_015937.5(PIGT):c.367G>T (p.Val123Leu) rs141420243
NM_015979.3(MED23):c.40-5_40-4insT rs200823095
NM_015981.3(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_016038.3(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016219.4(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585
NM_016239.3(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200
NM_016373.3(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016529.4(ATP8A2):c.145G>T (p.Asp49Tyr) rs864309608
NM_017637.5(BNC2):c.2768C>T (p.Ala923Val) rs117452684
NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_017757.2(ZNF407):c.181A>G (p.Ser61Gly) rs75994611
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) rs377139749
NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.3(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.3(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.3(CHD7):c.5051-4C>T rs71640288
NM_017780.3(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.3(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017866.5(TMEM70):c.580G>A (p.Val194Met) rs77410280
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_018341.2(ERMARD):c.1246G>A (p.Val416Ile) rs143351214
NM_018389.4(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018714.2(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.2(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019105.6(TNXB):c.12514G>A (p.Asp4172Asn) rs200523717
NM_019105.6(TNXB):c.12524G>A (p.Ser4175Asn) rs199953230
NM_019112.3(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020376.3(PNPLA2):c.793C>T (p.Pro265Ser) rs56152088
NM_020705.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_020732.3(ARID1B):c.1069_1071delGGC (p.Gly357del) rs797045268
NM_020937.3(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
NM_020971.2(SPTBN4):c.2709G>A (p.Trp903Ter) rs864309618
NM_020975.4(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.4(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020987.4(ANK3):c.1690-6_1690-4dup rs34796699
NM_020987.4(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927
NM_020987.4(ANK3):c.8988G>C (p.Gln2996His) rs41274672
NM_021912.4(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022162.2(NOD2):c.2722G>C (p.Gly908Arg) rs2066845
NM_022162.2(NOD2):c.74-7T>A rs104895421
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_023067.3(FOXL2):c.313_315delAAC (p.Asn105del) rs1057516154
NM_023067.3(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.3(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1552G>C (p.Val518Leu) rs397517394
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024426.5(WT1):c.216G>T (p.Gln72His) rs5030135
NM_024494.2(WNT2B):c.313C>T (p.Arg105Ter) rs879255420
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024753.4(TTC21B):c.2322+3A>G rs79037278
NM_024757.4(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_030665.3(RAI1):c.861_872delGCAGCAGCAGCA (p.Gln288_Gln291del) rs371983878
NM_030665.3(RAI1):c.870_872dupGCA (p.Gln291_Ala292insGln) rs371983878
NM_030777.3(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_032119.3(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517
NM_032119.3(ADGRV1):c.9447+6G>A rs201481219
NM_032446.2(MEGF10):c.1130+3G>A rs115184652
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033084.4(FANCD2):c.2022-5C>T rs4019784
NM_033084.4(FANCD2):c.311T>C (p.Ile104Thr) rs143936557
NM_033084.4(FANCD2):c.986C>G (p.Ala329Gly) rs116736407
NM_033100.3(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033109.4(PNPT1):c.1525G>A (p.Val509Ile) rs146571352
NM_033163.3(FGF8):c.77C>T (p.Pro26Leu) rs137852660
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_130797.3(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) rs863225070
NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) rs863225071
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_133378.4(TTN):c.49369G>A (p.Val16457Ile) rs181957743
NM_133378.4(TTN):c.72997A>G (p.Ile24333Val) rs201562505
NM_133378.4(TTN):c.79708C>A (p.Pro26570Thr) rs72648227
NM_133378.4(TTN):c.96856G>C (p.Val32286Leu) rs55866005
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138425.3(C12orf57):c.229+25_229+43delTCAGACGCGGGAAGGCGGG rs199730337
NM_138694.3(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431
NM_144687.3(NLRP12):c.2927+4_2927+5dupAG rs763190690
NM_144773.3(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_144991.2(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643
NM_144997.5(FLCN):c.1177-5_1177-3delCTC rs767671406
NM_144997.5(FLCN):c.1285delC (p.His429Thrfs) rs80338682
NM_144997.5(FLCN):c.1285dupC (p.His429Profs) rs80338682
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.5(FLCN):c.1432+1G>A rs755959303
NM_144997.5(FLCN):c.1522_1524delAAG (p.Lys508del) rs398124529
NM_144997.5(FLCN):c.1528_1530delGAG (p.Glu510del) rs879255681
NM_144997.5(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_144997.5(FLCN):c.469_471delTTC (p.Phe157del) rs786203218
NM_144997.5(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_144997.5(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.5(FLCN):c.779+1G>T rs758175953
NM_144997.6(FLCN):c.580C>T (p.Arg194Trp) rs138070947
NM_145725.2(TRAF3):c.449G>A (p.Arg150His) rs141920055
NM_147185.2(AKAP9):c.4837A>G (p.Met1613Val) rs193922723
NM_152269.4(C12orf65):c.413A>G (p.Lys138Arg) rs147328685
NM_153240.4(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153252.4(BRWD3):c.2325+5G>A rs186391561
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_170695.3(TGIF1):c.90G>A (p.Trp30Ter) rs202123354
NM_173591.3(OTOGL):c.1963C>T (p.Pro655Ser) rs76420383
NM_173591.3(OTOGL):c.902G>A (p.Gly301Glu) rs186616540
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) rs28362270
NM_176787.4(PIGN):c.2620-5delT rs11437076
NM_181079.4(IL21R):c.890G>A (p.Arg297Gln) rs52822694
NM_181882.2(PRX):c.3496C>T (p.Pro1166Ser) rs147826200
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182961.3(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_194248.2(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194318.3(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_194322.2(OTOF):c.65T>C (p.Leu22Pro) rs143141993
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198271.4(LMOD3):c.1667C>A (p.Pro556Gln) rs201205115
NM_198525.2(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198525.2(KIF7):c.2501A>G (p.Gln834Arg) rs138354681
NM_198576.3(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068
NM_198903.2(GABRG2):c.107+6A>G rs868452487
NM_198903.2(GABRG2):c.751+4C>T rs587780948
NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543
NM_206933.2(USH2A):c.12295-3T>A rs111033518
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_207346.2(TSEN54):c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro) rs398124622
m.3308T>C rs28358582

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