ClinVar Miner

Variants from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre with conflicting interpretations

Location: Saudi Arabia — Primary collection method: research
Minimum review status of the submission from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:
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
359 22 0 115 10 2 53 170

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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 0 11 1 1 1 1 1 0
likely pathogenic 101 0 47 11 8 1 1 1
likely benign 0 0 10 0 10 0 0 0

Submitter to submitter summary #

Total submitters: 128
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
OMIM 0 5 0 64 1 1 1 67
GeneDx 0 8 0 20 1 0 15 36
Invitae 0 2 0 14 4 0 19 36
Illumina Clinical Services Laboratory,Illumina 0 1 0 6 3 0 12 21
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 6 1 0 13 19
Mendelics 0 1 0 7 1 0 7 15
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 8 0 13 0 0 1 14
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 3 1 0 8 12
Counsyl 0 3 0 5 1 0 5 10
Genetic Services Laboratory, University of Chicago 0 3 0 6 0 0 3 9
Fulgent Genetics,Fulgent Genetics 0 1 0 3 0 0 4 7
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 536 8 0 7 0 0 0 7
PreventionGenetics,PreventionGenetics 0 0 0 5 0 0 1 6
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 6 0 0 0 6
Baylor Genetics 0 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 3 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 4 0 0 1 4
Athena Diagnostics Inc 0 1 0 2 0 0 2 3
Ambry Genetics 0 1 0 1 0 0 2 3
GeneReviews 0 0 0 3 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 2 0 0 1 3
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 2 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 0 1 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 1 2
Blueprint Genetics 0 1 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 1 2
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 2 0 0 0 2
Color 0 0 0 0 0 0 2 2
Human Genetics - Radboudumc,Radboudumc 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 0 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 1 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 1
PXE International 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 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
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 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
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 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
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
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 1 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 0 0 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 1 0 0 0 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 0 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 0 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
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 170
Download table as spreadsheet
HGVS dbSNP
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000092.4(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.3587_3588CT[2] (p.Cys1198fs) rs1555090368
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000426.3(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001142301.1(TMEM67):c.1170-2A>G rs786205608
NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly) rs140872693
NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001163435.3(TBCK):c.1897+1G>A rs374319146
NM_001163673.1(WDR81):c.59-2135C>T rs770279237
NM_001163673.1(WDR81):c.59-4576G>A rs730882206
NM_001165927.1(MKS1):c.1036C>T (p.Gln346Ter) rs786205508
NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) rs201406974
NM_001172435.2(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205
NM_001193315.1(VIPAS39):c.136G>A (p.Val46Met) rs148360332
NM_001199398.2(NEK1):c.1558_1559del (p.Met520fs) rs786205645
NM_001256047.1(C19orf12):c.124G>A (p.Gly42Arg) rs200133991
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) rs730882250
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002501.4(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter) rs730882240
NM_004281.3(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004285.4(H6PD):c.745+88T>A rs12032814
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004738.4(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189
NM_005691.3(ABCC9):c.1603T>C (p.Tyr535His) rs397517184
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_014000.2(VCL):c.2924G>A (p.Arg975Gln) rs767325003
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014714.4(IFT140):c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) rs746697405
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015202.4(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) rs730882245
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519
NM_017990.5(PDPR):c.1360G>T rs202246074
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816
NM_018849.3(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_018979.4(WNK1):c.2139+2852C>T rs786205473
NM_019108.4(SMG9):c.520_521del (p.Pro174fs) rs869312741
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) rs786205510
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) rs730882197
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_021939.3(FKBP10):c.917+53G>T rs141387386
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024685.4(BBS10):c.955_958GTTA[1] (p.Ser320fs) rs758522600
NM_025000.4(DCAF17):c.322-14C>T rs192861143
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032504.1(UNC80):c.565G>A (p.Val189Met) rs864321623
NM_032578.3(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_144612.6(LOXHD1):c.4530+107A>G rs1450425
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_170589.5(KNL1):c.3712G>A (p.Ala1238Thr) rs533933463
NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) rs751931568
NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro) rs775277800
NM_173630.4(RTTN):c.2885+8A>G rs864321620
NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln) rs864321621
NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly) rs780270096
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) rs762826555
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.3516+10G>C rs76264143
NM_206933.3(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
Single allele rs1555293215

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