ClinVar Miner

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

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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 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
1000 408 22 266 219 9 33 497

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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 15 30 2 0 0 0 0 3
likely pathogenic 15 0 4 1 0 0 0 1
uncertain significance 11 17 0 119 80 0 0 1
likely benign 2 3 28 0 90 0 0 1
benign 0 1 25 133 7 1 1 1

Submitter to submitter summary #

Total submitters: 83
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 182 0 65 80 0 6 151
GeneDx 0 123 0 46 41 0 7 94
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 142 0 31 23 0 1 55
Genetic Services Laboratory, University of Chicago 0 63 0 33 14 1 2 50
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 58 0 24 19 0 2 45
PreventionGenetics, PreventionGenetics 0 54 0 32 12 0 0 44
CeGaT Praxis fuer Humangenetik Tuebingen 0 45 0 19 21 0 3 43
Illumina Clinical Services Laboratory,Illumina 0 44 0 20 18 0 4 42
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 28 0 31 10 0 0 41
Integrated Genetics/Laboratory Corporation of America 0 88 0 14 16 0 4 34
Ambry Genetics 0 38 0 18 10 0 1 29
Athena Diagnostics Inc 0 55 0 10 11 0 0 21
GeneReviews 0 12 15 1 0 0 4 20
Color Health, Inc 0 12 0 8 11 0 1 20
OMIM 0 61 0 5 1 8 5 19
Mendelics 0 15 0 7 6 0 4 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 38 0 5 10 0 1 16
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 5 0 3 9 0 1 13
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 5 2 4 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 6 0 3 7 0 0 10
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 2 2 4 0 0 8
Counsyl 0 27 0 7 1 0 0 8
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 3 5 0 0 8
Robarts Research Institute,Western University 0 5 0 3 5 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 7 0 5 2 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 4 2 0 0 6
CSER _CC_NCGL, University of Washington 0 7 0 2 4 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 5 0 3 2 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 3 1 0 0 4
Natera, Inc. 0 29 0 1 1 0 1 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 5 0 1 0 0 2 3
LDLR-LOVD, British Heart Foundation 0 3 0 1 2 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 1 0 2 3
Fundacion Hipercolesterolemia Familiar 0 1 0 1 2 0 0 3
Myriad Women's Health, Inc. 0 10 0 1 0 0 2 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1901 2 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 0 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 0 1 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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 9 0 1 0 0 1 2
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 3 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 1 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 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 4 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 0 0 2
Iberoamerican FH Network 0 1 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 1 2
Broad Institute Rare Disease Group, Broad Institute 0 5 0 0 1 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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 4 0 1 0 0 0 1
RettBASE 0 7 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 7 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 3 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 1 0 0 0 1
Leiden Open Variation Database 0 2 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 7 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 1 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Bruce Budowle Laboratory,University of North Texas Health Science Center 0 0 0 0 0 1 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 6 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 0 0 0 1 1
New York Genome Center 0 0 0 1 0 0 0 1
MAGI's Lab - Research,MAGI Group 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 497
Download table as spreadsheet
HGVS dbSNP
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
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.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(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_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000147.4(FUCA1):c.525-19TTCTGTTT[3] rs864309552
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000204.5(CFI):c.1534+5G>T rs114013791
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu) rs150654627
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1814+3A>G rs376886420
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000369.5(TSHR):c.881+3A>G rs186091357
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000455.4(STK11):c.465-5C>T rs567202367
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000527.4(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.941-4G>A
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000540.2(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559
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.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_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
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.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala) rs1143675
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001039141.3(TRIOBP):c.3232C>T (p.Arg1078Cys) rs200359708
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001040202.2(PAQR3):c.*8511G>A rs138262352
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001080779.2(MYO1C):c.2574A>C (p.Lys858Asn) rs61753652
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys) rs140967677
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303
NM_001145287.2(OPRM1):c.140C>G (p.Ser47Cys) rs17174794
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001164343.2(ZBTB20):c.945C>G (p.Asp315Glu) rs144663365
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761
NM_001193520.1(RASAL1):c.1810T>C (p.Phe604Leu) rs142556970
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) rs9332747
NM_001197104.1(KMT2A):c.1810A>G (p.Met604Val) rs150328852
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199861.2(KCNAB2):c.1039A>G (p.Ile347Val) rs146277144
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.20467-20_20467-19dup rs10687343
NM_001271208.2(NEB):c.20467-4del rs10687343
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277269.1(OTOG):c.7045G>C (p.Val2349Leu) rs540794663
NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) rs183470913
NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) rs191662816
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171
NM_001303.4(COX10):c.773T>A (p.Leu258His) rs587780911
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425
NM_001370466.1(NOD2):c.-8-7T>A rs104895421
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del) rs797045268
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val) rs145314043
NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr) rs61735719
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001807.5(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478
NM_002296.4(LBR):c.367-5T>C rs201626710
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) rs140584714
NM_002439.5(MSH3):c.186GCCCCCAGC[3] (p.64PAP[3]) rs60484572
NM_002472.3(MYH8):c.2147T>A (p.Ile716Asn) rs115483891
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665
NM_002691.4(POLD1):c.2007-4G>A rs202035484
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002878.3(RAD51D):c.196G>A (p.Val66Met) rs56026142
NM_002912.4(REV3L):c.3979A>G (p.Ile1327Val) rs55717383
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003244.3(TGIF1):c.16+1564G>A rs202123354
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004327.4(BCR):c.2845G>A (p.Val949Ile) rs2229038
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361
NM_004452.3(ESRRB):c.1427G>A (p.Arg476His) rs200237229
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004667.5(HERC2):c.2389A>G (p.Met797Val) rs150930758
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568
NM_004830.4(MED23):c.40-18dup rs200823095
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004993.6(ATXN3):c.892CAG[18] (p.Gln296_Gln305dup) rs193922928
NM_004999.4(MYO6):c.1224-4A>G rs144031818
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005045.4(RELN):c.-24_-22GGC[12] (p.Met1_Glu2insGlyGlyGlyGly) rs55656324
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074
NM_005609.4(PYGM):c.999+20C>T rs201711087
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006343.3(MERTK):c.584-5C>T rs747835003
NM_006506.4(RASA2):c.1603A>G (p.Ile535Val) rs143035190
NM_006506.4(RASA2):c.17C>T (p.Pro6Leu) rs201352230
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006767.4(LZTR1):c.651+10_651+46del rs541944601
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197
NM_007098.4(CLTCL1):c.3874-4C>G rs184612047
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr) rs181583071
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941
NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe) rs140118273
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile) rs864309602
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087
NM_015074.3(KIF1B):c.1977+6360G>T rs41274458
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015158.4(KANK1):c.3554-5T>A rs76738278
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser) rs138329311
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr) rs864309608
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) rs62636611
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684
NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg) rs55679040
NM_017757.2(ZNF407):c.181A>G (p.Ser61Gly) rs75994611
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280
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_018117.12(WDR11):c.1306A>G (p.Ile436Val) rs34602786
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018993.3(RIN2):c.2501A>T (p.Tyr834Phe) rs183141566
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys) rs567883079
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927
NM_020987.5(ANK3):c.8988G>C (p.Gln2996His) rs41274672
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_021939.3(FKBP10):c.44C>G (p.Pro15Arg) rs572425083
NM_022134.3(GAL3ST2):c.29+1G>A rs78620448
NM_022455.4(NSD1):c.72C>T (p.Ala24=) rs147146776
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024582.4(FAT4):c.10847C>T (p.Thr3616Met) rs111423173
NM_024665.6(TBL1XR1):c.86G>A (p.Gly29Asp) rs879255421
NM_024753.5(TTC21B):c.2322+3A>G rs79037278
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_025114.4(CEP290):c.943-4C>T rs199770158
NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219
NM_033026.6(PCLO):c.2066C>T (p.Ala689Val) rs200359990
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438
NM_033163.4(FGF8):c.77C>T (p.Pro26Leu) rs137852660
NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) rs530255181
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431
NM_144773.3(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.3G>C (p.Met1Ile) rs879255658
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met) rs76994389
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_172056.2(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_172056.2(KCNH2):c.1558-5C>T rs114186001
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)
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg)
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met) rs149472569
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198903.2(GABRG2):c.107+6A>G rs868452487
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.751+4C>T rs587780948
NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622
m.3308T>C rs28358582

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