ClinVar Miner

Variants from Daryl Scott Lab, Baylor College of Medicine with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Daryl Scott Lab, Baylor College of Medicine: Collection method of the submission from Daryl Scott Lab, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
597 367 3 147 40 4 65 237

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
Daryl Scott Lab, Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign drug response protective other
pathogenic 3 120 18 4 4 3 1 2
likely pathogenic 27 0 17 0 0 0 0 0
uncertain significance 16 16 0 34 9 0 0 0
likely benign 1 0 2 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 143
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
Labcorp Genetics (formerly Invitae), Labcorp 0 126 1 11 20 0 13 44
Baylor Genetics 0 202 0 17 1 0 12 30
Revvity Omics, Revvity 0 79 0 13 1 0 5 18
Fulgent Genetics, Fulgent Genetics 0 71 0 14 0 0 3 17
GeneDx 0 97 0 10 3 0 5 17
OMIM 0 81 2 6 0 0 8 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 25 0 11 0 0 2 13
PreventionGenetics, part of Exact Sciences 0 46 0 6 7 0 0 13
Genome-Nilou Lab 0 24 0 5 3 0 2 10
Counsyl 0 7 0 8 0 0 1 9
Natera, Inc. 0 24 0 5 1 0 3 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 45 0 5 1 0 3 9
CeGaT Center for Human Genetics Tuebingen 0 42 0 2 3 0 3 8
Illumina Laboratory Services, Illumina 0 35 0 3 4 0 1 7
3billion 0 52 0 4 1 0 1 6
Ambry Genetics 0 13 0 3 3 0 1 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 14 0 3 1 0 2 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 0 3 2 0 1 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 12 0 5 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 4 0 0 2 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 9 0 2 1 0 2 5
Mendelics 0 9 0 4 0 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 37 0 3 0 0 2 5
Athena Diagnostics 0 17 0 2 1 0 2 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 13 0 3 0 0 1 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 18 0 2 0 0 2 4
Eurofins Ntd Llc (ga) 0 34 0 4 0 1 1 4
Genetic Services Laboratory, University of Chicago 0 22 0 2 1 1 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 4 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 12 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 24 0 2 2 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 18 0 2 0 0 3 4
Solve-RD Consortium 0 1 0 3 0 0 1 4
Undiagnosed Diseases Network, NIH 0 13 0 3 0 0 2 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 23 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 8 0 2 0 0 1 3
ClinPGx 0 0 0 0 0 3 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 5 0 2 0 0 1 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 2 0 0 2 3
Myriad Genetics, Inc. 0 11 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 4 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 3 0 0 0 3
Variantyx, Inc. 0 25 0 3 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 6 0 2 0 0 0 2
Clinical Genetics, Academic Medical Center 0 3 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 2 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 14 0 0 0 0 2 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 1 0 0 1 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 7 0 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 7 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 17 0 2 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 18 0 0 0 0 2 2
Institute of Human Genetics, Cologne University 0 0 0 0 1 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 24 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 16 0 2 0 0 0 2
Leiden Open Variation Database 0 4 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 3 0 1 1 0 0 2
UCLA Clinical Genomics Center, UCLA 0 3 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 10 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 8 0 0 0 0 1 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 10 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 1 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 11 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 3 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 7 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 4 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 1 0 0 0 1
Dasa 0 23 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 0 0 1 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 0 0 0 1 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 0 0 1 0 0 0 1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 14 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 1 1
GeneReviews 0 20 0 0 0 0 1 1
Genesis Genomics 0 0 0 1 0 0 0 1
Genetics Department, Catlab 0 1 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 4 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 2 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 6 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 3 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 16 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 27 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 8 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 4 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 5 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 2 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Genetics Laboratory, Tarbiat Modares University 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
New York Genome Center 0 15 0 1 0 0 1 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 0 2 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 0 0 1 0 0 0 1
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 0 0 0 0 0 1 1
Precision Medicine Center, Zhengzhou University 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 5 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 1 0 0 0 1
Suma Genomics 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00233
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00227
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) rs145897018 0.00129
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00095
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00088
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00045
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) rs374899663 0.00015
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949 0.00012
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) rs34757931 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000202.8(IDS):c.575C>G (p.Pro192Arg) rs139495864 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00004
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) rs200649090 0.00004
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) rs201257063 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile) rs760824351 0.00003
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000540.3(RYR1):c.9472+9G>A rs1392237616 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001142966.3(GREB1L):c.5707G>A (p.Glu1903Lys) rs1168976920 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001383.6(DPH1):c.749+39G>A rs774761076 0.00001
NM_002204.4(ITGA3):c.1973C>G (p.Thr658Arg) rs540704248 0.00001
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val) rs1311737177 0.00001
NM_005993.5(TBCD):c.2006+5G>A rs1284192515 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser) rs748574829 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del) rs1064793252
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001282531.3(ADNP):c.3213_3216del (p.Ser1071fs) rs1568701332
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001374828.1(ARID1B):c.5029C>T (p.Pro1677Ser)
NM_001378418.1(TCF20):c.310_313dup (p.Gln105fs) rs1569154591
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.9400+2T>G
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.16338+2T>C rs1555184777
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs) rs2508808338
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_005120.3(MED12):c.5625del (p.Gly1876fs) rs2519714036
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_007348.4(ATF6):c.1805-2A>C rs2525599583
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs) rs2546823502
NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr) rs2547457958
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser) rs730881200
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015386.3(COG4):c.1654_1655del (p.Leu552fs) rs1333878137
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_016343.4(CENPF):c.1026del (p.Glu342fs) rs1064795215
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_017654.4(SAMD9):c.4408C>T (p.His1470Tyr) rs2116412345
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro) rs763515150
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020964.3(EPG5):c.1499T>G (p.Ile500Ser) rs2512064752
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs) rs753422696
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_024757.5(EHMT1):c.587C>T (p.Ala196Val) rs1368780488
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032856.5(WDR73):c.32C>G (p.Ser11Cys)
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del) rs1064794916
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr) rs778711731
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) rs768335581
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207111.4(RNF216):c.1224+2C>T rs374351343
NM_213649.2(SFXN4):c.930del (p.Ile310fs) rs1589625048
Single allele

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