Data Sharing Resources
GenomeConnect
Events
Citing ClinGen
Contact
Dashboard

Get Started
About Us
Curation Activities
Working Groups
Expert Panels
Documents & Announcements
Tools

Gene Symbol
Disease Name
Drug Name
Region (GRCh37)
Region (GRCh38)
Variant
Website Content

All Curated Genes
Gene-Disease Validity
Dosage Sensitivity
Clinical Actionability
Curated Variants
Statistics
More

Website Search

Click here to view and search ClinGen's curated genes

Type a term in the search bar above.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.

@ClinGenResource

Get Started

Curation Activities

About ClinGen's Curation Activities
Gene-Disease Validity
Variant Pathogenicity
Clinical Actionability
Dosage Sensitivity
Somatic Cancer Variant
Baseline Annotation
ClinGen Curation of ClinVar
Browse All ClinGen's Curated Genes

Tools

About Us

About ClinGen
ClinGen & ClinVar Partnership
ClinGen, CPIC and PharmGKB Partnership
ClinGen Opportunities
Citing ClinGen & Terms of Use
Contact ClinGen
Events & Conferences
FDA Recognition
Leadership
Member Directory
Organization Directory
Partnerships
Policies
Website SiteMap

Working Groups

Actionability
Ancestry and Diversity
Biocurator
Cancer Variant Interpretation
ClinGen Community Curation (C3)
ClinGen Curation of ClinVar
Clinical Domain Working Groups
Copy Number Variant Interpretation Guidelines
Curated Disease Entity
Data Access, Protection, and Confidentiality
Data Platform
Dosage Sensitivity Curation
Education, Coordination and Training
External Scientific Panel
Gene Curation
Low Penetrance/Risk Allele
Partnership
Pharmacogenomics Interpretation Committee
Pseudodeficiency Working Group
Sequence Variant Interpretation
Germline/Somatic Working Group
Steering Committee
Variant Curation

Expert Panels

ABCA4 Variant Curation Expert Panel
ACADVL Variant Curation Expert Panel
Albinism Variant Curation Expert Panel
Alport Syndrome Variant Curation Expert Panel
Aminoacidopathy Gene Curation Expert Panel
Amyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel
Amyotrophic Lateral Sclerosis Spectrum Disorders Variant Curation Expert Panel
Antibody Deficiencies Gene Curation Expert Panel
Antibody Deficiencies Variant Curation Expert Panel
Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
BCR::ABL1-like B-lymphoblastic Leukemia/Lymphoma Somatic Cancer Variant Curation Expert Panel
Brain Malformations Gene Curation Expert Panel
Brain Malformations Variant Curation Expert Panel
Breast/Ovarian Cancer Gene Curation Expert Panel
Brugada Syndrome Gene Curation Expert Panel
Cardiomyopathy Variant Curation Expert Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
Cerebellar Ataxia Gene Curation Expert Panel
Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
Cerebral Palsy Gene Curation Expert Panel
Charcot-Marie-Tooth Disease Gene Curation Expert Panel
Charcot-Marie-Tooth Disease Variant Curation Expert Panel
Childhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel
Coagulation Factor Deficiency Variant Curation Expert Panel
Colon Cancer Gene Curation Expert Panel
Complement-Mediated Kidney Diseases Gene Curation Expert Panel
Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
Congenital Disorders of Glycosylation Gene Curation Expert Panel
Congenital Heart Disease Gene Curation Expert Panel
Congenital Heart Disease Variant Curation Expert Panel
Congenital Myopathies Gene Curation Expert Panel
Congenital Myopathies Variant Curation Expert Panel
Craniofacial Malformations Gene Curation Expert Panel
Desmosomal Cardiomyopathy Variant Curation Expert Panel
DICER1 and miRNA-Processing Gene Variant Curation Expert Panel
Dilated Cardiomyopathy Gene Curation Expert Panel
Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert Panel
Endocrine Tumor Predisposition Variant Curation Expert Panel
ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Epilepsy Gene Curation Expert Panel
Epilepsy Sodium Channel Variant Curation Expert Panel
Established Significance Somatic Cancer Variant Curation Expert Panel
Familial Hypercholesterolemia Variant Curation Expert Panel
Fatty Acid Oxidation Disorders Gene Curation Expert Panel
FBN1 Variant Curation Expert Panel
Fibroblast Growth Factor Receptor Mutations (SNVs) Somatic Cancer Variant Curation Expert Panel
FLT3 (Fms Related Receptor Tyrosine Kinase 3) Somatic Cancer Variant Curation Expert Panel
Galactosemia Variant Curation Expert Panel
Gastric Cancer Variant Curation Expert Panel
General Gene Curation Expert Panel
General Inborn Errors of Metabolism Gene Curation Expert Panel
Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel
Glaucoma Variant Curation Expert Panel
Glomerulopathy Gene Curation Expert Panel
Glucose-6-phosphate dehydrogenase Variant Curation Expert Panel
GRIN Disorders Variant Curation Expert Panel
Hearing Loss Gene Curation Expert Panel
Hearing Loss Variant Curation Expert Panel
Hemoglobinopathy Variant Curation Expert Panel
Hemostasis/Thrombosis Gene Curation Expert Panel
Hereditary Angioedema Variant Curation Expert Panel
Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel
Hereditary Cancer Gene Curation Expert Panel
Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel
Heritable Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel
Histone H3 Somatic Cancer Variant Curation Expert Panel
Hypertrophic Cardiomyopathy Gene Curation Expert Panel
InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Intellectual Disability and Autism Gene Curation Expert Panel
Interstitial Lung Disease Gene Curation Expert Panel
Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
Kidney Cystic and Ciliopathy Disorders Variant Curation Expert Panel
Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
Leukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
Leukodystrophy and Leukoencephalopathy Variant Curation Expert Panel
Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
Long QT Syndrome Gene Curation Expert Panel
Lysosomal Diseases Gene Curation Expert Panel
Lysosomal Diseases Variant Curation Expert Panel
Malignant Hyperthermia Susceptibility Variant Curation Expert Panel
MAPK/ERK Pathway Somatic Cancer Variant Curation Expert Panel
Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
Mitochondrial Diseases Gene Curation Expert Panel
Monogenic Autoinflammatory Diseases Gene Curation Expert Panel
Monogenic Diabetes Gene Curation Expert Panel
Monogenic Diabetes Variant Curation Expert Panel
Monogenic Systemic and Incomplete Lupus Erythematosus Gene Curation Expert Panel
Motile Ciliopathy Gene Curation Expert Panel
Motile Ciliopathy Variant Curation Expert Panel
Muscular Dystrophies and Myopathies Gene Curation Expert Panel
Myeloid Malignancy Variant Curation Expert Panel
Neurofibromatoses and Schwannomatosis Variant Curation Expert Panel
NTRK Fusions Somatic Cancer Variant Curation Expert Panel
Ocular Anterior Segment Disorder Variant Curation Expert Panel
Ocular Oncology Variant Curation Expert Panel
Optic Nerve Atrophy Variant Curation Expert Panel
Parkinson's Disease Gene Curation Expert Panel
Parkinson's Disease Variant Curation Expert Panel
Pediatric Cataract Variant Curation Expert Panel
Peroxisomal Disorders Gene Curation Expert Panel
Peroxisomal Disorders Variant Curation Expert Panel
Phenylketonuria Variant Curation Expert Panel
Platelet Disorders Variant Curation Expert Panel
Potassium Channel Arrhythmia Variant Curation Expert Panel
Prenatal Gene Curation Expert Panel
Primary Immune Regulatory Disorders Gene Curation Expert Panel
Propionic Acidemia and Methylmalonic Acidemia Variant Curation Expert Panel
PTEN Variant Curation Expert Panel
Pulmonary Hypertension Gene Curation Expert Panel
Pulmonary Hypertension Variant Curation Expert Panel
RASopathy Gene Curation Expert Panel
RASopathy Variant Curation Expert Panel
Retina Gene Curation Expert Panel
Rett and Angelman-like Disorders Variant Curation Expert Panel
SCID-CID Gene Curation Expert Panel
Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Short QT Syndrome Gene Curation Expert Panel
Skeletal Disorders Gene Curation Expert Panel
Skeletal Disorders Variant Curation Expert Panel
Somatic Mosaicism of Vascular Anomalies Gene Curation Expert Panel
Syndromic Disorders Gene Curation Expert Panel
Thrombosis Variant Curation Expert Panel
TP53 Variant Curation Expert Panel
Tubulopathy Gene Curation Expert Panel
Urea Cycle Disorders Variant Curation Expert Panel
VHL Variant Curation Expert Panel
von Willebrand Disease Variant Curation Expert Panel
X-linked Inherited Retinal Disease Variant Curation Expert Panel

Documents & Announcements

ClinGen Exhibit Booth Materials
Curation Activity Procedures
Conflict Of Interest (COI)
Data Sharing Resources
Expert Panel Applications
News
MOC/CME Forms
Patient Data Sharing
Policies/Position Statements
Presentations
Publications
Supporting Documents
Training Materials
Website Updates

© ClinGen