Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne with conflicting interpretations

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
978	263	5	275	20	9	89	361

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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	protective	other
	pathogenic	4	132	26	3	3	2	0	1	1	1
	likely pathogenic	141	0	35	1	2	0	0	0	1	1
	uncertain significance	14	15	1	13	5	0	1	0	1	1
	likely benign	5	3	6	0	5	0	0	0	1	1
	benign	0	0	0	2	0	0	0	0	0	0
	drug response	2	0	0	1	0	0	0	0	0	2

Submitter to submitter summary #

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	104	2	51	7	1	10	69
OMIM	0	140	2	39	1	2	17	60
GeneDx	0	15	0	22	2	1	6	29
Institute of Human Genetics, University of Leipzig Medical Center	0	67	0	19	5	0	3	27
3billion	0	90	0	24	0	0	2	26
Revvity Omics, Revvity	0	44	0	21	2	0	3	24
Baylor Genetics	0	70	0	16	0	0	6	21
Illumina Laboratory Services, Illumina	0	34	0	9	8	0	5	20
Solve-RD Consortium	0	10	0	18	1	0	2	20
Variantyx, Inc.	0	30	0	15	0	0	1	16
Counsyl	0	18	0	10	1	0	4	15
Fulgent Genetics, Fulgent Genetics	0	59	0	11	0	0	4	15
CeGaT Center for Human Genetics Tuebingen	0	7	0	10	1	0	4	14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	25	0	10	1	0	4	14
Neuberg Centre For Genomic Medicine, NCGM	0	21	0	7	0	0	6	13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	63	0	13	0	0	0	13
Natera, Inc.	0	30	0	11	0	0	1	12
Department of Pathology and Laboratory Medicine, Sinai Health System	0	21	0	7	1	0	4	11
Genome-Nilou Lab	0	25	0	9	0	0	2	11
MGZ Medical Genetics Center	0	35	0	8	0	0	1	9
Mendelics	0	27	0	5	3	0	2	9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	66	0	8	0	0	1	9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	17	0	6	0	0	2	8
PreventionGenetics, part of Exact Sciences	0	8	0	6	0	0	2	8
Genetic Services Laboratory, University of Chicago	0	25	0	5	0	0	2	7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	19	0	6	0	0	2	7
Myriad Genetics, Inc.	0	20	0	5	2	0	0	7
SIB Swiss Institute of Bioinformatics	0	4	0	6	0	0	1	7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	18	0	6	0	0	0	6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	21	0	4	1	0	1	6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	14	0	6	1	0	1	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	16	0	5	0	0	0	5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	5	0	5	0	0	0	5
Daryl Scott Lab, Baylor College of Medicine	0	15	0	4	0	0	2	5
Dasa	0	21	0	4	0	0	1	5
Eurofins Ntd Llc (ga)	0	3	0	2	1	3	2	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	9	0	5	0	0	0	5
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	5	0	5	0	0	1	5
Institute of Human Genetics Munich, TUM University Hospital	0	39	0	5	0	0	0	5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	12	1	3	1	0	1	5
New York Genome Center	0	10	0	4	1	0	2	5
Clinical Genetics Laboratory, Skane University Hospital Lund	0	8	0	4	0	0	1	4
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	12	0	4	0	0	0	4
Genetics and Molecular Pathology, SA Pathology	0	14	0	4	0	0	0	4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	23	0	4	0	0	0	4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	15	0	4	0	0	0	4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	4	0	2	0	0	2	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	33	0	3	0	0	1	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	3	0	4	1	0	1	4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	4	0	3	0	0	1	4
Paris Brain Institute, Inserm - ICM	0	2	0	4	0	0	0	4
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	4	0	0	1	4
Athena Diagnostics	0	4	0	3	1	0	1	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	7	0	2	0	0	2	3
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	17	0	3	0	0	0	3
Center of Human Genetics, Hôpital Erasme	0	8	0	3	0	0	0	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	9	0	3	0	0	0	3
Clinical Genomics Laboratory, Washington University in St. Louis	0	12	0	2	0	0	1	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	6	0	3	0	0	0	3
Dubai Health Genomic Medicine Center, Dubai Health	0	12	0	2	0	0	1	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1597	2	0	3	1	0	1	3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	0	0	2	0	0	1	3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	2	0	3	0	0	0	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	3	0	2	0	0	1	3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	7	0	2	0	0	1	3
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	6	0	3	0	0	0	3
Institute for Human Genetics, University Hospital Essen	0	2	0	2	1	0	1	3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	3	0	3	0	0	0	3
Institute of Immunology and Genetics Kaiserslautern	0	10	0	3	0	0	0	3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	1	0	3	0	0	0	3
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	0	2	1	0	1	3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	1	0	3	0	0	0	3
Mayo Clinic Laboratories, Mayo Clinic	0	1	0	3	1	0	1	3
Molecular Genetics, Royal Melbourne Hospital	0	5	0	2	0	0	1	3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	4	0	2	0	0	1	3
Quest Diagnostics Nichols Institute San Juan Capistrano	0	1	0	2	1	0	2	3
Undiagnosed Diseases Network, NIH	0	12	0	3	1	0	1	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	4	0	2	0	0	0	2
Blueprint Genetics	0	2	0	2	0	0	0	2
Cavalleri Lab, Royal College of Surgeons in Ireland	0	0	0	2	0	0	0	2
Center for Medical Genetics Ghent, University of Ghent	0	2	0	0	0	0	2	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	2	0	0	0	2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	1	0	2	0	0	0	2
Centre of Medical Genetics, University Hospital Muenster	0	0	0	2	0	0	0	2
Clinical Genomics Laboratory, Stanford Medicine	0	6	0	2	0	0	0	2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	6	0	2	0	0	0	2
Department of Human Genetics, Hannover Medical School	0	16	0	2	0	0	0	2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	1	0	2	1	0	1	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	4	0	2	0	0	0	2
Elsea Laboratory, Baylor College of Medicine	0	2	0	2	0	0	1	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	6	0	2	0	0	0	2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	2	0	0	1	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	6	0	2	0	0	0	2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	8	0	0	2	0	0	2
Genomics England Pilot Project, Genomics England	0	8	0	2	0	0	0	2
Hadassah Hebrew University Medical Center	0	3	0	1	0	1	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	11	0	2	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	8	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	10	0	2	0	0	0	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	5	0	1	1	0	1	2
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	1	0	2	0	0	0	2
Lifecell International Pvt. Ltd	0	5	0	2	0	0	0	2
Medical and Scientific Branch, Hong Kong Genome Institute	0	4	0	1	0	0	1	2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	2	0	2	0	0	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	0	0	1	0	0	1	2
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	2	0	0	1	2
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	0	0	0	0	2	0	2
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	2	0	0	1	2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	3	0	2	0	0	0	2
OLLIN Analises Genomicas, OLLIN	0	9	0	2	0	0	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	1	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	0	2	0	2	0	0	0	2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	1	0	0	1	0	0	1
Ambry Genetics	0	13	0	1	1	0	1	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	0	0	0	1	1
Arcensus	0	1	0	1	0	0	0	1
Autoinflammatory diseases unit, CHU de Montpellier	0	1	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	1	0	0	0	1
Biochemistry And Molecular Medicine, Center For Genetics And Inherited Diseases, Taibah University	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	5	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	6	0	0	1	0	1	1
Breast Cancer Information Core (BIC) (BRCA2)	0	4	0	1	0	0	0	1
CHU Sainte-Justine Research Center, University of Montreal	0	0	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	1	0	0	0	0	1	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	2	0	0	0	0	1	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	0	0	1	0	1	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	1	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	6	0	1	0	0	0	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	10	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 of Antwerp	0	0	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	1	1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	1	0	0	0	0	1	1
ClinGen PAH Variant Curation Expert Panel	0	3	0	1	0	0	0	1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
ClinPGx	0	0	0	0	0	1	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	1	0	0	0	1
Clinical Genetics Center, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine	0	0	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	0	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	5	0	1	0	0	0	1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town	0	0	0	1	0	0	0	1
Color Diagnostics, LLC DBA Color Health	0	1	0	0	0	0	1	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	7	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	1	1
Deafness Gene Diagnosis, Xijing Hospital	0	0	0	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	3	0	1	0	0	0	1
Department of Genetics, Sultan Qaboos University Hospital	0	2	0	1	0	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	0	0	0	0	0	1	1
Department of Molecular Genetics, Istishari Arab Hospital	0	3	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	0	0	1	0	0	0	1
Department of Neurology, Zibo Changguo Hospital	0	0	0	1	0	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	0	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	0	1	0	0	0	1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	3	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	1	0	1	0	0	0	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	6	0	1	0	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	1	0	1	1
Genesis Genome Database	0	0	0	0	0	0	1	1
Genesis Genomics	0	1	0	1	0	0	0	1
Genetics Department, University Hospital of Angers	0	0	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	1	0	1	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	1	1
GenomeConnect - Simons Searchlight	0	5	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	4	0	1	0	0	0	1
IIFP, CONICET-UNLP	0	0	0	0	0	0	1	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	0	0	0	0	1	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	1	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	3	0	1	0	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	4	1	0	0	0	0	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	1	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	5	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	1	0	1	0	0	0	1
Institute of Human Genetics, Heidelberg University	0	7	0	1	0	0	0	1
Institute of Human Genetics, University of Ulm	0	0	0	1	0	0	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	2	0	1	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	1	0	0	0	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	0	0	1	0	0	0	1
Laboratory Cellgenetics, GMDL Cellgenetics	0	1	0	1	0	0	0	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	0	0	0	0	0	1	1
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	0	0	1	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	1	0	1	0	0	0	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	0	0	0	1	0	0	0	1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax	0	0	0	1	0	0	0	1
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	0	0	1	0	0	0	1
MVZ Martinsried, Medicover Genetics	0	3	0	1	0	0	0	1
Medgenome Labs Pvt Ltd	0	0	0	1	0	0	0	1
Medical Biochemical Genetics, National Human Genome institute, NIH, National Institutes of Health	0	0	0	1	0	0	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	1	0	0	1	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	1	0	1	1
Molecular Biology Laboratory, Fundació Puigvert	0	1	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	1	0	1	0	0	0	1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	0	0	0	0	0	0	1	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	0	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	1	1
Molecular Pathology, Peter Maccallum Cancer Centre	0	1	0	1	0	0	0	1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	0	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	0	0	0	0	0	1	1
Neurogenetics of motion laboratory, Montreal Neurological Institute	0	0	0	1	0	0	0	1
Neurology Department, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	1	0	1	0	0	0	1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	0	0	1	0	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	1
Pediatrics, Sichuan Provincial Hospital For Women And Children	0	0	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	1	0	1	1
Rare Disease Group, University of Exeter	0	1	0	1	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	1	0	0	0	1
RettBASE	0	4	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	1	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	1	0	1	0	0	0	1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini	0	0	0	1	0	0	0	1
Sharing Clinical Reports Project (SCRP)	0	5	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	0	0	0	0	1	1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	1	0	1	0	0	0	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	10	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
CYP2C9*2	rs1799853	0.08975
CYP2C9*3	rs1057910	0.04900
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	rs7626962	0.02208
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)	rs200533370	0.01365
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	rs11203289	0.01214
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	rs33927012	0.00921
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00640
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00378
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	rs72546668	0.00302
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	rs72552293	0.00277
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	rs41419545	0.00217
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00129
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	rs104894951	0.00119
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00116
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	rs74315448	0.00063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	0.00058
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00042
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)	rs140430952	0.00041
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)	rs181834806	0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)	rs121918282	0.00036
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_001011658.4(TRAPPC2):c.-97G>A	rs746032983	0.00033
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)	rs113718290	0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	rs141204958	0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	rs143139258	0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)	rs201428088	0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_015426.5(POC1A):c.253G>C (p.Val85Leu)	rs112213336	0.00023
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)	rs149802213	0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)	rs104894363	0.00020
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)	rs140782427	0.00015
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	rs119478059	0.00015
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)	rs200901862	0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	rs199472776	0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)	rs121909298	0.00013
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	rs104893615	0.00012
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00012
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)	rs147445322	0.00007
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)	rs149595793	0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	rs375661404	0.00007
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)	rs780538558	0.00006
NM_001848.3(COL6A1):c.717+4A>G	rs762867111	0.00006
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)	rs748436953	0.00006
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00005
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)	rs267607137	0.00003
NM_021120.4(DLG3):c.251C>T (p.Pro84Leu)	rs374006597	0.00003
NM_052988.5(CDK10):c.609-1G>A	rs767176610	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	rs67486158	0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu)	rs750451843	0.00002
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	rs112445441	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_021120.4(DLG3):c.593G>A (p.Arg198Gln)	rs748814438	0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter)	rs778050996	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)	rs764776104	0.00002
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	rs121912861	0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)	rs764018631	0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)	rs199472821	0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	rs138049878	0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000528.4(MAN2B1):c.1645-1G>A	rs938576591	0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	rs587782705	0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His)	rs138665095	0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	rs967826828	0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	rs886037961	0.00001
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)	rs1343579561	0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)	rs768701595	0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)	rs1464167194	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	rs769218623	0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	rs606231459	0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_003086.4(SNAPC4):c.2527+1G>A	rs1194239835	0.00001
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	rs724160021	0.00001
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	rs137852760	0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln)	rs772393451	0.00001
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)	rs767241917	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)	rs201791209	0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)	rs769587233	0.00001
NM_032635.4(TMEM147):c.344+5G>A	rs749966973	0.00001
NM_032635.4(TMEM147):c.540_543dup (p.Val182fs)	rs781371223	0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)	rs865842167	0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter)	rs545515041	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)	rs949082769	0.00001
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-RNR1):m.1494C>T	rs267606619
NC_012920.1(MT-RNR1):m.1555A>G	rs267606617
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_000128.4(F11):c.1822T>C (p.Tyr608His)	rs281875255
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	rs140593
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	rs363811
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)	rs763462603
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	rs139794067
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	rs863224150
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)	rs1555934859
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)	rs1569297427
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	rs121918472
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	rs866706988
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	rs397515624
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)	rs201660407
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)	rs2146717703
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811
NM_001015878.2(AURKC):c.145del (p.Leu49fs)	rs397515619
NM_001029896.2(WDR45):c.437-1G>A	rs1602538372
NM_001032221.6(STXBP1):c.325+2_325+3del	rs1554776853
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	rs1131691970
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	rs796053138
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	rs1553567409
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)	rs1060500378
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)	rs1597658021
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs)	rs745806637
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs)	rs1575467723
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)	rs1553956958
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	rs1603360542
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)	rs61751449
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)	rs267608382
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	rs1555736565
NM_001130144.3(LTBP3):c.2829C>G (p.Cys943Trp)
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	rs886039429
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	rs1057518190
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)	rs1569315876
NM_001190274.2(FBXO11):c.1042-1G>C	rs1572806589
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)	rs1554709662
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	rs1057518074
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)	rs2082695884
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	rs672601367
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	rs1131690804
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	rs1135401808
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter)	rs1057518991
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)	rs2142884433
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)	rs1876739249
NM_001347721.2(DYRK1A):c.1213-2A>G	rs1601315812
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)	rs724159955
NM_001347721.2(DYRK1A):c.924+4_924+7del	rs1555984461
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)	rs1555951993
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)	rs1602131859
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001365902.3(NFIX):c.344G>A (p.Arg115Gln)	rs1599738398
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)	rs1060503496
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)	rs1165205177
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)	rs1583513256
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr)	rs1562945106
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	rs766020802
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)	rs745683775
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	rs132630313
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	rs267606621
NM_001655.5(ARCN1):c.654-15A>G	rs1591385240
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	rs587777620
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	rs397516706
NM_001943.5(DSG2):c.523+2T>C	rs397516709
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)	rs886042041
NM_002072.5(GNAQ):c.627A>C (p.Gln209His)	rs2118444312
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	rs1555945553
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002819.5(PTBP1):c.1A>G (p.Met1Val)	rs2145008460
NM_002819.5(PTBP1):c.3G>A (p.Met1Ile)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)	rs1555264243
NM_003011.4(SET):c.130_133del (p.Arg44fs)	rs1554776342
NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter)	rs2148264796
NM_003036.4(SKI):c.539C>T (p.Thr180Met)	rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)	rs1064795099
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	rs775957625
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	rs374661051
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	rs878853160
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr)	rs1575116846
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)	rs760446904
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)	rs1064794963
NM_004429.5(EFNB1):c.499+1G>A	rs1556107481
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp)	rs1601071071
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)	rs2043443851
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)	rs727503935
NM_005262.3(GFER):c.219del (p.Cys74fs)	rs1597063051
NM_005262.3(GFER):c.259-25_259-24del	rs1597063303
NM_005321.3(H1-4):c.430dup (p.Ala144fs)	rs1131690805
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)	rs1603217815
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	rs397517172
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)	rs2149941592
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)	rs1553738686
NM_005862.3(STAG1):c.659A>G (p.His220Arg)	rs1057519153
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	rs1057517991
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	rs587784505
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)	rs1057517908
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)	rs1057521924
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	rs58982919
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu)	rs539161490
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)	rs1602140936
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg)	rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006593.4(TBR1):c.713_719del (p.Ser238fs)	rs1553510280
NM_006593.4(TBR1):c.811T>C (p.Trp271Arg)	rs1553510301
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	rs1064795331
NM_006772.3(SYNGAP1):c.2294+1G>A	rs1554121970
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp)	rs2151199464
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	rs151344513
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)	rs1556857481
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)	rs1567941252
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)	rs879255685
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	rs1064793539
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	rs2034353033
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	rs1555523386
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)	rs1250432793
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)	rs2546823502
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	rs1589088690
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	rs1555791268
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)	rs1555255676
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu)	rs2532575070
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser)	rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)	rs786205680
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	rs1554593901
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	rs2148740878
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	rs1301328139
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)	rs1592940794
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)	rs886039599
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	rs1562957809
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)	rs1585645641
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)	rs2124105757
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	rs775657157
NM_017646.6(TRIT1):c.334del (p.Arg112fs)	rs536000212
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His)	rs1554336974
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)	rs1563625351
NM_017780.4(CHD7):c.7164+1G>A	rs2129644267
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)	rs1575612023
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	rs752176040
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)	rs1057522978
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	rs1554771469
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)	rs587777695
NM_020975.6(RET):c.1879+1G>A	rs1588873476
NM_021190.4(PTBP2):c.2T>C (p.Met1Thr)
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	rs886039767
NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	rs2107831036
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	rs1554204921
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	rs587784190
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	rs587784200
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	rs1554162301
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter)	rs886037868
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	rs779707422
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter)	rs772533643
NM_024577.4(SH3TC2):c.3676-8G>A	rs772823083
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	rs1553810255
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)	rs1588553447
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	rs312262723
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)	rs371795896
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)	rs786201003
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)	rs2139519168
NM_052867.4(NALCN):c.3970C>T (p.Leu1324Phe)
NM_052867.4(NALCN):c.946G>A (p.Val316Met)	rs1463184766
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)	rs1057519433
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter)	rs2143677745
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_078480.3(PUF60):c.24+1G>C	rs1064795388
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)	rs1554227215
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)	rs913487671
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)	rs1554581504
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del)	rs1554581821
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)	rs386834117
NM_152641.4(ARID2):c.400dup (p.Gln134fs)	rs2138082983
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	rs587777219
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)	rs587777578
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)	rs1797574932
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)	rs1657997491
Single allele