ClinVar Miner

Variants reported as not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17173
Total variants unanimously reported as not provided: 8956

Breakdown by submitter #

Total submitters: 141
Download table as spreadsheet
Submitter Variants
ITMI 2683
Tuberous sclerosis database (TSC2) 1618
Retina International 1545
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1347
Epithelial Biology; Institute of Medical Biology, Singapore 1094
GenomeConnect, ClinGen 1025
ClinVar Staff, National Center for Biotechnology Information (NCBI) 988
UniProtKB/Swiss-Prot 916
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 638
Tuberous sclerosis database (TSC1) 570
Human Evolutionary Genetics, Institut Pasteur 539
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 536
Academic Unit of Haematology, University of Sheffield 382
Leiden Muscular Dystrophy (RYR1) 378
VIB Department of Molecular Genetics, University of Antwerp 334
Psychiatry Genetics Yale University 236
Institute of Molecular and Cell Biology, University of Tartu 135
GeneDx 134
RettBASE 124
Research and Development, ARUP Laboratories 110
Diasio Lab, Mayo Clinic 107
Harris Lab, University of Minnesota 99
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 95
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 81
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 80
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 79
Leiden Muscular Dystrophy (CAV3) 69
Database of Curated Mutations (DoCM) 63
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages 53
Casey Eye Institute Glaucoma Genetics Lab 52
Leiden Muscular Dystrophy (MYPN) 48
Genomic Research Center, Shahid Beheshti University of Medical Sciences 46
Seelig Lab,University of Washington 45
Laboratory of Translational Genomics, National Cancer Institute 42
University of Sydney Medical Foundation 42
SNPedia 39
Molecular Psychiatry Laboratory, RIKEN 35
GenomeConnect-Association for Creatine Deficiencies 35
Breast Cancer Information Core (BIC) (BRCA1) 34
Leiden Muscular Dystrophy (TPM1) 32
ANO5 @LOVD 32
Centre for molecular medicine, Karolinska Institutet 28
Medical Genetics Unit, Ain Shams University Pediatrics Hospital 26
Integrated Genetics/Laboratory Corporation of America 25
Breast Cancer Information Core (BIC) (BRCA2) 25
Inserm U 954, Faculté de Médecine de Nancy 23
TPM2 homepage - Leiden Muscular Dystrophy pages 23
Leiden Muscular Dystrophy (MYL2) 22
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 22
Department of Ophthalmology and Visual Sciences Kyoto University 21
Medical Biology Lab, Gaziantep University 20
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 20
Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald 20
CeMIA 20
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague 19
Lee Lab(KAT6B), Baylor College of Medicine 19
Children's Cancer Therapy Development Institute 18
TPM3 homepage - Leiden Muscular Dystrophy pages 17
James Howe Lab,University of Iowa Hospital and Clinics 17
OMIM 15
Hospital for Sick Children 15
Leiden Muscular Dystrophy (MYL3) 14
Department of Molecular Biophysics, University of Lodz 13
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 12
Leiden Muscular Dystrophy (DAG1) 12
Leiden Muscular Dystrophy (TNNT1) 12
GenomeConnect - CFC International 12
GenomeConnect - CureCADASIL 12
Osteogenesis Imperfecta Variant Database (PPIB) 11
Leiden Muscular Dystrophy (TNNT3) 10
Richard Lifton Laboratory, Yale University School of Medicine 10
UMR_S938_Pr. Le Bouc INSERM 10
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 10
Immunobiology Lab; University of Kashmir 10
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 9
Functional Genomics, Thrombosis Research Institute, India 9
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 9
Leiden Muscular Dystrophy pages (B3GALNT2) 9
TNNI2 homepage - Leiden Muscular Dystrophy pages 8
Laboratory of Molecular Genetics MedGen 7
Leiden Muscular Dystrophy (MYOZ2) 6
STRNAD Lab, University Hospital of Ulm 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 6
Narod's Lab, University of Toronto 6
Laboratoire de Génétique Moléculaire, CHU Pontchaillou 5
Cole and Hamvas Lab, Washington University - St. Louis 5
Department of Psychiatry,Nagoya University 5
Leiden Muscular Dystrophy (PDLIM3) 4
Medical Genetics of Dicle University 4
Colsan 4
Leiden Muscular Dystrophy (DPM3) 3
Osteogenesis Imperfecta Variant Database (SERPINF1) 3
Invitae 3
Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 3
Peking Union Medical College Hospital 3
Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences 3
Universitäts-Kinderspital Zürich 3
Centre for Genetic Disorders, Banaras Hindu University 3
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 3
Devine Lab Institute for Genome Sciences, University of Maryland School of Medicine 3
SickKids Clinical Genetics Group,The Hospital for Sick Children 3
Systems Biology Division; Zhejiang-California International Nanosystems Institute 2
Center for Applied Genomics,Children's Hospital of Philadelphia 2
Lab. of Molecular Biology of Arterial Hypertension University of Padova 2
Alzheimer Center and Department of Neurology, VU University Medical Center 2
Laboratorio de Genetica Humana; Universidad de los Andes 2
Miller Lab NIH/NIDDK 2
Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University 2
Laboratório de Genética Molecula,r University of Campinas - Unicamp 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 2
idemuth, Charité - Universiätsmedizin Berlin 2
Yale Center for Mendelian Genomics,Yale University 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 2
Osteogenesis Imperfecta Variant Database (SP7) 1
Sharing Clinical Reports Project (SCRP) 1
GeneReviews 1
Stoller Lab Children's Hospital of Philadelphia 1
Endocrinology Clinic, Seth G.S. Medical College 1
Community Genetics, University of British Columbia 1
Brunetti-Pierri's lab TIGEM 1
Department of Immunology, Genetics and Pathology, Uppsala University 1
Rajkovic Lab, University of Pittsburgh 1
Molecular Genetics Unit, Terrassa Hospital 1
Central Laboratory, The First Affiliated Hospital, Jinan University 1
Scientific Bio-Minds 1
Pharmacogenetics and Inflammatory Diseases Research Group, University of Otago 1
Texas Scottish Rite Hospital for Children 1
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1
Institute of Human Genetics, RWTH University Hospital Aachen 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 1
The Institute of Human Genetics, Galilee Medical Center 1
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1
Department of Medical Genetics,Oslo University Hospital 1
Institute of Human Genetics,Justus-Liebig University 1
Division of Human Genetics,Children's Hospital of Philadelphia 1
Biosciences and Nutrition,Karolinska Institutet 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 1
Cancer Biology Lab,VIT University 1
Medical Genetics Laboratory,University of Pavia 1

Breakdown by condition #

Total conditions: 766
Download table as spreadsheet
Condition Variants
not provided 7564
not specified 2754
Tuberous sclerosis syndrome 2140
Congenital long QT syndrome 892
Familial cancer of breast 479
Cystic fibrosis 442
Brugada syndrome 224
Familial Mediterranean fever 168
Severe myoclonic epilepsy in infancy 150
Hydatidiform mole, recurrent, 1 111
Renal carnitine transport defect 110
Familial cold urticaria 98
Hyperimmunoglobulin D with periodic fever 91
TNF receptor-associated periodic fever syndrome (TRAPS) 85
Blau syndrome 80
Normal pregnancy 58
Glaucoma 1, open angle, F 51
Tobacco use disorder 43
Gestational diabetes mellitus uncontrolled 38
Breast-ovarian cancer, familial 1 36
Preeclampsia 34
Bladder cancer, somatic 33
Lowe syndrome 32
Large for gestational age 29
Severe combined immunodeficiency due to ADA deficiency 29
Hypotension 28
Breast-ovarian cancer, familial 2 26
Long QT syndrome, LQT1 subtype 26
Non-small cell lung cancer 26
Ceroid lipofuscinosis neuronal 2 24
Lymphangiomyomatosis; Tuberous sclerosis syndrome 24
Dyskeratosis congenita X-linked 23
Generalized epilepsy with febrile seizures plus, type 1 23
Lymphangiomyomatosis 22
Episodic ataxia type 2 20
Hereditary angioedema with normal C1Inh 20
Tuberous sclerosis 2 20
CIC-DUX Sarcoma 18
Atrial fibrillation 17
Small for gestational age 17
Permanent neonatal diabetes mellitus 16
Autism spectrum disorder 15
Familial hemiplegic migraine type 1 15
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 14
SUDDEN INFANT DEATH SYNDROME 14
Sarcoma 13
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 12
Leukocyte adhesion deficiency type 1 11
Polycystic kidney disease, adult type 11
Wilson disease 11
Alloalbuminemia 10
Carcinoma of colon 10
Analbuminemia 9
Cerebral cavernous malformations 3 9
Creatine deficiency, X-linked 9
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE 8
Beckwith-Wiedemann syndrome 8
Cerebral cavernous malformations 2 8
Endometrial carcinoma 8
Majeed syndrome 8
Noonan syndrome 1 8
Chronic myelogenous leukemia 7
Ehlers-Danlos syndrome, classic type 7
short QT syndrome 7
Acquired long QT syndrome 6
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 6
Arrhythmia 6
Cardiac conduction defect, nonspecific 6
Deficiency of steroid 11-beta-monooxygenase 6
GM1 gangliosidosis type 2 6
Hepatitis c virus, susceptibility to 6
Lynch syndrome 6
Maturity-onset diabetes of the young, type 3 6
Merosin deficient congenital muscular dystrophy 6
Neoplasm of ovary 6
Primary dilated cardiomyopathy 6
Autosomal recessive polycystic kidney disease 5
Ehlers-Danlos syndrome, type 4 5
Familial hypertrophic cardiomyopathy 10 5
Hennekam lymphangiectasia-lymphedema syndrome 1 5
Multiple endocrine neoplasia, type 1 5
Neoplasm of the large intestine 5
Cohen syndrome 4
Deficiency of guanidinoacetate methyltransferase 4
Familial hemiplegic migraine type 3 4
Generalized epilepsy 4
Jervell and Lange-Nielsen syndrome 1 4
MYOPIA 27 4
Megaloblastic anemia due to inborn errors of metabolism 4
Neoplasm of the breast 4
POLG-related disorders 4
Phenylketonuria 4
Polycystic liver disease 1 4
Spastic paraplegia 4, autosomal dominant 4
Stargardt disease 4
Torsades de pointes 4
Ventricular tachycardia 4
COL1A2-Related Disorder 3
Cardio-facio-cutaneous syndrome 3
Cardiofaciocutaneous syndrome 1 3
Cerebral cavernous malformation 3
Congenital adrenal hyperplasia 3
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 3
Cutaneous melanoma 3
Deafness 3
Deficiency of butyryl-CoA dehydrogenase 3
Deficiency of glycerate kinase 3
Dent disease 2 3
Diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1-Related Disorders; Wolfram-like syndrome, autosomal dominant 3
Distal myopathy Markesbery-Griggs type 3
Donnai Barrow syndrome 3
Ehlers-Danlos syndrome progeroid type 3
Ehlers-Danlos syndrome, musculocontractural type 3
Fabry disease 3
Familial hypertrophic cardiomyopathy 3 3
Familial hypertrophic cardiomyopathy 8 3
Focal epilepsy 3
Focal segmental glomerulosclerosis 4, susceptibility to 3
Glaucoma 3, primary congenital, A 3
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 3
Hearing loss 3
Hereditary breast and ovarian cancer syndrome 3
Hereditary cancer 3
Homocysteinemia due to MTHFR deficiency 3
Hypertrophic cardiomyopathy 3
Intrinsic factor deficiency 3
Leukemia-Lymphoma, Adult T-Cell 3
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 3
Maturity-onset diabetes of the young, type 10 3
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 3
Methylmalonic acidemia with homocystinuria 3
Mitochondrial DNA-related disorder 3
Mitochondrial complex I deficiency 3
Myelodysplastic syndrome 3
Neonatal diabetes mellitus 3
Nephrogenic diabetes insipidus 3
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 3
PIGT-related disorder 3
Pyogenic arthritis, pyoderma gangrenosum and acne 3
RYR1-Related Disorder 3
Spastic paraplegia 7 3
Stargardt disease 1 3
46,XY sex reversal, type 5 2
Acromelic frontonasal dysostosis 2
Acute Porphyria 2
Agammaglobulinemia, non-Bruton type 2
Alstrom syndrome 2
Aortic valve disorder; Adams-Oliver syndrome 5 2
Aplastic anemia 2
Atrioventricular block 2
Autosomal dominant retinitis pigmentosa 2
Bainbridge-Ropers syndrome 2
Becker muscular dystrophy; Duchenne muscular dystrophy 2
Brittle cornea syndrome 1 2
CASK-Related Disorder 2
Cardiomyopathy 2
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 2
Charcot-Marie-Tooth disease type 2P 2
Chromosome 2q23.1 deletion syndrome 2
Collagen VI-related myopathy 2
Combined oxidative phosphorylation deficiency 12 2
Congenital disorder of glycosylation type Ir 2
Congenital ichthyosiform erythroderma 2
DCTN1-Related Disorder 2
DEPDC5-Related Disorder 2
Deafness, autosomal recessive 12; Usher syndrome, type 1D 2
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2
Deafness, autosomal recessive 77 2
Deafness, autosomal recessive 84 2
Deafness, autosomal recessive 84b 2
Deficiency of butyrylcholine esterase 2
Deficiency of steroid 17-alpha-monooxygenase 2
Diabetes mellitus type 2 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2
Dilated cardiomyopathy 1Y 2
Distal myopathy, Tateyama type 2
Dominant hereditary optic atrophy 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2
ELP2-Related Disorders 2
EMC1-Related Disorder 2
Early infantile epileptic encephalopathy 18 2
Early onset epileptic encephalopathy 2
Epilepsy, childhood absence 6 2
Familial colorectal cancer 2
Familial hypercholesterolemia 1 2
Familial hypertrophic cardiomyopathy 4 2
GATAD2B-Related Disorder 2
GRIN1-Related Disorder 2
Glioblastoma 2
Glycogen storage disease, type IV 2
Glycogen storage disease, type V 2
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; Infantile encephalopathy 2
Hereditary Paraganglioma-Pheochromocytoma Syndromes 2
Hereditary hemochromatosis 2
Hereditary hemorrhagic telangiectasia type 2 2
Homocystinuria due to CBS deficiency 2
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2
Hyperlipoproteinemia, type I 2
Hyperphenylalaninemia, BH4-deficient, D 2
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 2
Hypophosphatemic rickets, autosomal recessive, 2 2
Ichthyosis vulgaris 2
Infantile myofibromatosis 1 2
Intellectual developmental disorder with cardiac arrhythmia; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 2
Intellectual disability 2
KBG syndrome 2
Kabuki syndrome 1 2
Leukoencephalopathy with vanishing white matter 2
Long QT syndrome 2
Lung cancer 2
MARS-Related Disorder 2
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 2
Major depressive disorder 2
Marfan syndrome 2
Maturity-onset diabetes of the young, type 1 2
Methylmalonic aciduria cblB type 2
Multiple fibrofolliculomas 2
Muscular dystrophy 2
Myeloperoxidase deficiency 2
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2
Myopathy, myofibrillar, 9, with early respiratory failure 2
Neurofibromatosis, type 1 2
Noonan syndrome 4 2
Noonan syndrome 5 2
Ovarian Neoplasms 2
Parkinson disease 9 2
Partial RhD 2
Periventricular nodular heterotopia 1 2
Poretti-Boltshauser syndrome 2
Primary autosomal recessive microcephaly 10 2
Primary autosomal recessive microcephaly 3 2
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 2
Prostate neoplasm 2
Pseudoxanthoma elasticum 2
Rasopathy 2
Retinitis pigmentosa 2
Retinitis pigmentosa 40 2
Rubinstein-Taybi syndrome 2 2
SCN5A-related disorder 2
SHANK3-Related Disorder 2
SLC6A1-Related Disorder 2
Short stature, brachydactyly, intellectual developmental disability, and seizures 2
Smith-Lemli-Opitz syndrome 2
Spastic ataxia Charlevoix-Saguenay type 2
Spermatogenic failure 10 2
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14 2
Spinocerebellar ataxia 6 2
Succinate-semialdehyde dehydrogenase deficiency 2
Sudden cardiac death 2
Tatton-Brown-rahman syndrome 2
Transcobalamin II deficiency 2
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 2
Tyrosinase-positive oculocutaneous albinism 2
UNC80-Related Disorder 2
Ventricular fibrillation 2
Warsaw breakage syndrome 2
Weak RhD expression 2
Xia-Gibbs syndrome 2
15q13.3 microdeletion syndrome 1
1q21.1 recurrent microdeletion 1
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease, axonal, type 2Q 1
3 Methylcrotonyl-CoA carboxylase 1 deficiency 1
3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 1
3-methylcrotonyl CoA carboxylase 2 deficiency 1
ABCB4-related disorders 1
ABCD syndrome; Hirschsprung disease 2; Waardenburg syndrome type 4A 1
ACO2-related disorder 1
ACO2-related disorders 1
ACTG2-Related Disorder 1
ATR-X syndrome 1
ATRX-Related Disorder 1
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Hypochondroplasia 1
Achromatopsia 2 1
Acute myeloid leukemia 1
Adams-Oliver syndrome 2 1
Allopurinol response 1
Alpha-1-antitrypsin deficiency 1
Alpha-thalassemia and related diseases 1
Alport syndrome 1, X-linked recessive 1
Amyloidogenic transthyretin amyloidosis 1
Andermann syndrome 1
Angelman syndrome 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 1
Anterior segment mesenchymal dysgenesis; Congenital primary aphakia; Thoracic aortic aneurysm and aortic dissection 1
Aortic aneurysm, familial thoracic 4 1
Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta 1
Aortic aneurysm, familial thoracic 7 1
Aortic aneurysm, familial thoracic 8 1
Arginase deficiency 1
Association with valproate-induced liver toxicity 1
Ataxia-telangiectasia syndrome 1
Ataxia-telangiectasia syndrome; Hereditary cancer 1
Ataxia-telangiectasia syndrome; breast cancer 1
Atrophoderma vermiculatum 1
Autism, susceptibility to, 18 1
Autism, susceptibility to, X-linked 6 1
Autosomal dominant familial acute myeloid leukemia 1
Autosomal recessive centronuclear myopathy 1
BRWD3-Related Disorder 1
Barakat syndrome 1
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 20 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 1
Benign Soft Tissue Neoplasm of Uncertain Differentiation 1
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 1
Bernard Soulier syndrome 1
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease 1
Beta-D-mannosidosis 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 1
Bethlem myopathy 1 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1
Biotinidase deficiency 1
Breast cancer, susceptibility to; COLON CANCER, SUSCEPTIBILITY TO 1
CACNA1A-Related Disorder 1
CACNA1C-Related Disorder 1
CACNA1G-related disorders 1
CACNA1H-related disorder 1
CEP290-related ciliopathies 1
CHARGE association 1
CHD2-Related Disorder 1
CHD3-Related Disorder 1
CHD8-Related Disorders 1
CLCN4-related disorder 1
CLTC-Related Disorder 1
COL11A2- Related Disorder 1
COL2A1-Related Disorder 1
COL3A1-Related Disorder 1
COL4A1-Related Disorder 1
COL6A1-related Disorder 1
CSNK2A1- Related Disorders 1
Carcinoma of pancreas 1
Cardiac arrhythmia, ankyrin B-related 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 1
Carney complex 1
Carnitine palmitoyltransferase II deficiency 1
Catecholaminergic polymorphic ventricular tachycardia type 1 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 1
Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive 1
Ceroid lipofuscinosis neuronal 1 1
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 1
Ceroid lipofuscinosis neuronal 8 1
Charcot-Marie-Tooth disease type 2C 1
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 1
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1
Charcot-Marie-Tooth disease, axonal, type 2z 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 1
Charcot-Marie-Tooth disease, type 2L 1
Charcot-Marie-Tooth disease, type 2N 1
Chromosome 16p13.3 deletion syndrome, proximal 1
Chromosome Xp21 deletion syndrome 1
Chromosome Xq28 deletion syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 1
Chronic lymphocytic leukemia 1
Ciliary dyskinesia, primary, 11 1
Ciliary dyskinesia, primary, 34 1
Citrullinemia type I 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1
Coffin-Siris syndrome 1
Combined oxidative phosphorylation deficiency 11 1
Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 1
Combined oxidative phosphorylation deficiency 15 1
Combined oxidative phosphorylation deficiency 16 1
Combined oxidative phosphorylation deficiency 20 1
Combined oxidative phosphorylation deficiency 24 1
Combined oxidative phosphorylation deficiency 27 1
Combined oxidative phosphorylation deficiency 9 1
Common variable immunodeficiency 2 1
Congenital aniridia 1
Congenital disorder of glycosylation type 1B 1
Congenital disorder of glycosylation type 1F 1
Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 1
Congenital disorder of glycosylation type 1O 1
Congenital disorder of glycosylation type 1t 1
Congenital disorder of glycosylation type 1x 1
Congenital disorder of glycosylation type 2L 1
Congenital hyperammonemia, type I 1
Congenital hypothyroidism 1
Congenital stationary night blindness 1
Congenital stationary night blindness, type 1F 1
Coronary artery disease 1
Coronary heart disease 2 1
Craniosynostosis 3 1
Cutis Laxa Syndrome 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 1
Cutis laxa-corneal clouding-oligophrenia syndrome; Spastic paraplegia 9; Spastic paraplegia 9b, autosomal recessive; Cutis laxa, autosomal dominant 3 1
DDX3X-Related Disorder 1
DEAFNESS, AUTOSOMAL RECESSIVE 106 1
DNMT1-Related Disorder 1
DYNC1H1-related disorders 1
DYSF- Related Disorder 1
Deafness, X-linked 2 1
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 1
Deafness, autosomal dominant 4 1
Deafness, autosomal recessive 16 1
Deafness, autosomal recessive 28 1
Deafness, autosomal recessive 3 1
Deafness, autosomal recessive 31 1
Deafness, autosomal recessive 86 1
Deafness, autosomal recessive 98 1
Deficiency of iodide peroxidase 1
Deficiency of isobutyryl-CoA dehydrogenase 1
Deficiency of transaldolase 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 1
Developmental dyslexia 1
Diabetes mellitus, insulin-dependent, 2 1
Dihydropyrimidine dehydrogenase deficiency 1
Dilated cardiomyopathy 1A 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy, LMNA-related 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 1
Distal spinal muscular atrophy, autosomal recessive 4 1
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 1
Dominant dystrophic epidermolysis bullosa with absence of skin 1
Duane syndrome type 1 1
Duchenne muscular dystrophy 1
Dysferlinopathy 1
Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1
Dystonia, primary cervical 1
Ectodermal dysplasia-syndactyly syndrome 1 1
Ehlers-Danlos syndrome 1
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta 1
Ehlers-Danlos syndrome, type 3 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 1
Elliptocytosis 1 1
Endometrial carcinoma; Familial adenomatous polyposis 4 1
Endometrial neoplasm 1
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q 1
Epilepsy, nocturnal frontal lobe, type 1 1
Epileptic encephalopathy Lennox-Gastaut type 1
Epileptic encephalopathy, childhood-onset 1
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Proud Levine Carpenter syndrome; Partington X-linked mental retardation syndrome 1
Epileptic encephalopathy, early infantile, 33 1
Episodic ataxia type 1 1
Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Hemiplegia-hemiconvulsion-epilepsy syndrome 1
Essential hypertension 1
Estrogen resistance 1
Ethylmalonic encephalopathy 1
FBN1-Related Disorders 1
FKRP-Related Disorder 1
FLG-Related Disorder 1
FLNA-related disorder 1
FLNB-Related Disorder 1
Facioscapulohumeral muscular dystrophy 2 1
Familial adenomatous polyposis 1 1
Familial cardiomyopathy 1
Familial exudative vitreoretinopathy 1
Familial hemophagocytic lymphohistiocytosis 1
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 1
Familial hypertrophic cardiomyopathy 12 1
Familial infantile myasthenia 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 1
Familial periodic paralysis 1
Familial thoracic aortic aneurysm 1
Fanconi anemia, complementation group D1; Hereditary breast and ovarian cancer syndrome 1
Fanconi anemia, complementation group M 1
Fanconi anemia; Hereditary cancer 1
Focal segmental glomerulosclerosis 8 1
Fructose-biphosphatase deficiency 1
Fundus albipunctatus, autosomal recessive 1
GABRA6-Related Disorder 1
GABRG2-Related Disorder 1
GLUT1 deficiency syndrome 2 1
GRIA3-Related Disorder 1
GRIN2B-Related Disorder 1
Gamma-aminobutyric acid transaminase deficiency 1
Gastrointestinal stroma tumor 1
Gastrointestinal stroma tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 1
Gaucher disease 1
Generalized epilepsy with febrile seizures plus, type 2 1
Glaucoma 3, primary congenital, A; Irido-corneo-trabecular dysgenesis 1
Glomerulopathy with fibronectin deposits 2; Plasma fibronectin deficiency 1
Glomuvenous malformations 1
Glucose 6 phosphate dehydrogenase deficiency 1
Glycogen storage disease 0, muscle 1
Glycogen storage disease type 13 1
Glycogen storage disease type 1A 1
Glycogen storage disease type III 1
Glycogen storage disease type IXa1 1
Glycogen storage disease type X 1
Glycogen storage disease, type VII 1
Gorlin syndrome 1
Granulosa Cell Tumor 1
Guanidinoacetate methyltransferase (GAMT) deficiency 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 1
HIVEP2-Related Disorder 1
HSD17B10-Related Disorder 1
HSPB1-Related Disorder 1
HUWE1-Related Disorder 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 1
Hepatic venoocclusive disease with immunodeficiency; Mycobacterium tuberculosis, susceptibility to 1
Hereditary diffuse gastric cancer 1
Hereditary factor IX deficiency disease 1
Hereditary fructosuria 1
Hereditary insensitivity to pain with anhidrosis 1
Hereditary nonpolyposis colon cancer 1
Hereditary pancreatitis 1
Hereditary sensory and autonomic neuropathy type IC 1
Heterotopia, periventricular, autosomal recessive 1
Hyperammonemia, type III 1
Hyperekplexia 1 1
Hyperphosphatasia with mental retardation syndrome 2 1
Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1
Hypocalciuric hypercalcemia, familial, type 1 1
Hypomyelination and Congenital Cataract 1
Hypomyelination, global cerebral 1
Hypophosphatasia 1
Hypophosphatemia 1
Hypotonia, ataxia, and delayed development syndrome 1
Hypotrichosis 6 1
IGF1R-Related Disorder 1
IL1RAPL1-Related Disorder 1
ISPD-Related Disorder 1
Ichthyosis prematurity syndrome 1
Idiopathic fibrosing alveolitis, chronic form 1
Intellectual developmental disorder with persistence of fetal hemoglobin 1
Intellectual disability, non syndromic 1
Jankovic Rivera syndrome; Farber disease 1
Juvenile myoclonic epilepsy 1
Juvenile myoclonic epilepsy; Intellectual disability 1
KANK1- Related Disorder 1
Keppen-Lubinsky syndrome 1
LOX-Related Disorder 1
LTBP2-related Disorder 1
LZTR1-Related Disorder 1
Lamellar cataract 1
Laminin alpha 2-related dystrophy 1
Leber congenital amaurosis 1
Leber's optic atrophy 1
Leber's optic atrophy; Neuropathy ataxia retinitis pigmentosa syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 1
Leigh syndrome 1
Leigh syndrome, French Canadian type 1
Leigh syndrome; Charcot-Marie-Tooth disease, type 4k 1
Leigh syndrome; Dilated cardiomyopathy 1GG 1
Leukodystrophy, hypomyelinating 3 1
Leukodystrophy, hypomyelinating, 6 1
Leukoencephalopathy with dystonia and motor neuropathy 1
Lewy body dementia; Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease, perinatal lethal; Gaucher disease type 3C; Parkinson disease, late-onset 1
Limb-girdle muscular dystrophy, type 2A 1
Limb-girdle muscular dystrophy, type 2G; Dilated cardiomyopathy 1N 1
Limb-girdle muscular dystrophy, type 2Q 1
Lissencephaly 1 1
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 1
Lissencephaly 3 1
Liver failure acute infantile 1
Loeys-Dietz syndrome 3 1
Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection 1
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm 1
Long QT syndrome 1 1
Long QT syndrome 8 1
Lung adenocarcinoma 1
Lymphoblastic leukemia, acute, with lymphomatous features 1
Lymphoproliferative syndrome 1 1
Lynch syndrome II 1
MATR3-Related Disorder 1
MEF2C-Related Disorder 1
MEIS2-related disorder 1
MUTYH-associated polyposis 1
MYH2-related myopathy 1
MYH9-related disorder 1
MYO7A-related disorder 1
MYOM1-related disorder 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1
Macular dystrophy, atypical vitelliform; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 1
Malignant hyperthermia susceptibility 1
Malignant hyperthermia, susceptibility to, 1; Multiminicore Disease; Centronuclear myopathy; Congenital fiber-type disproportion 1
Mannose-binding protein deficiency 1
Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome; Ectopia lentis; Familial thoracic aortic aneurysm 1
Martsolf syndrome; Warburg micro syndrome 2 1
Maturity-onset diabetes of the young, type 4 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1
Meier-Gorlin syndrome 1 1
Meier-Gorlin syndrome 4 1
Mental retardation, X-linked 1 1
Mental retardation, X-linked 98 1
Mental retardation, autosomal dominant 1 1
Mental retardation, autosomal dominant 32 1
Mental retardation, autosomal dominant 4 1
Mental retardation, autosomal dominant 6 1
Mental retardation, autosomal dominant 9 1
Mental retardation, autosomal recessive 1 1
Mental retardation, autosomal recessive 13 1
Mental retardation, autosomal recessive 18 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1
Mental retardation-hypotonic facies syndrome X-linked, 1 1
Mercaptolactate-cysteine disulfiduria 1
Microcephalic osteodysplastic primordial dwarfism type 2 1
Microcephaly and chorioretinopathy, autosomal recessive, 1 1
Microcephaly, normal intelligence and immunodeficiency 1
Mitochondrial DNA depletion syndrome 11 1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 1
Mitochondrial complex I deficiency; Leigh syndrome 1
Mitochondrial-DNA disorder 1
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 1
Mucopolysaccharidosis, MPS-IV-B 1
Multiple congenital anomalies 1
Multiple cutaneous leiomyomas 1
Multiple epiphyseal dysplasia 2; Stickler syndrome, type 5 1
Multiple pterygium syndrome Escobar type; Lethal multiple pterygium syndrome 1
Muscle AMP deaminase deficiency 1
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 1
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 1
Myhre syndrome 1
Myoclonic encephalopathy 1
Myoclonic-atonic epilepsy 1
Myofibrillar myopathy, filamin C-related 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 1
NFIA-related disorders 1
NOTCH1-Related Disorders 1
NRXN-Related Disorder 1
Nemaline myopathy 1
Neonatal intrahepatic cholestasis caused by citrin deficiency 1
Neonatal pseudo-hydrocephalic progeroid syndrome 1
Neoplasm of brain 1
Neoplasm of head and neck 1
Neoplasm of stomach 1
Nephrogenic diabetes insipidus, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 1
Netherton syndrome 1
Neuroblastoma 1
Neurodegeneration with brain iron accumulation 1
Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive 1
Neurodegeneration with brain iron accumulation 5 1
Neurodegeneration with brain iron accumulation 6 1
Neurodevelopmental and congenital anomalies 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 1
Niemann-Pick disease type C1 1
Niemann-Pick disease type C2 1
Nonsyndromic Hearing Loss, Recessive 1
Nonsyndromic hearing loss and deafness 1
Noonan syndrome 1
Noonan syndrome 3 1
Noonan syndrome 6 1
Noonan syndrome 8 1
Noonan syndrome-like disorder with loose anagen hair 1 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 1
Obesity 1
Oligodendroglioma 1
Optic atrophy 1
Osteogenesis imperfecta 1
Osteogenesis imperfecta type I 1
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient 1
Osteopetrosis autosomal recessive 1 1
Osteoporosis with pseudoglioma 1
Osteosarcoma 1
PEHO syndrome 1
PHIP-Related Disorder 1
PHIP-Related disorders 1
PINK1-Related Parkinsonism 1
POLG- Related Disorder 1
POLG- Related Disorders 1
PPP2R1A-related disorder 1
Pancreatitis 1
Papillary thyroid carcinoma 1
Parkinson disease 6, autosomal recessive early-onset 1
Periodic fever syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1
Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorder 8B 1
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 1
Peutz-Jeghers syndrome 1
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 1
Pituitary hormone deficiency, combined 1 1
Pituitary hormone deficiency, combined 4 1
Platyspondylic lethal skeletal dysplasia Torrance type 1
Poikiloderma with neutropenia 1
Polycystic kidney disease 2 1
Polycythemia vera 1
Polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3 1
Pontocerebellar hypoplasia type 1A 1
Pontocerebellar hypoplasia, type 1c 1
Premature ovarian failure 1 1
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome 1
Primary hyperoxaluria, type II 1
Primrose syndrome 1
Propionyl-CoA carboxylase deficiency 1
Pustular psoriasis, generalized 1
Pyruvate carboxylase deficiency 1
Pyruvate dehydrogenase E3-binding protein deficiency 1
RTEL1-related Disorders 1
Radial aplasia-thrombocytopenia syndrome 1
Refractory anemia with ringed sideroblasts (clinical) 1
Renal coloboma syndrome 1
Retinitis pigmentosa 31 1
Retinitis pigmentosa 41 1
Retinitis pigmentosa 7 1
Rhizomelic chondrodysplasia punctata type 1 1
Rubinstein-Taybi syndrome 1 1
Russell-Silver syndrome 1
SATB2-Related Disorder 1
SCN10A-Related Disorder 1
SCN1B-Related Disorder 1
SCN2A-related disorder 1
SCN3A- Related Disorder 1
SCN4A-related disorder 1
SCN8A-related disorder 1
SETBP1-Related Disorder 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 1
SLC6A2-related disorder 1
SMAD3-Related Disorder 1
SMS-Related Disorder 1
SQSTM1-related disorder 1
STAG1-Related Disorders 1
STAT1-Related Disorder 1
STRA6-Related Disorder 1
Schizophrenia 1
Schizophrenia; Autism spectrum disorder; Intellectual disability 1
Schuurs-hoeijmakers syndrome 1
SeSAME syndrome 1
Seckel syndrome 5; Primary autosomal recessive microcephaly 9 1
Segawa syndrome, autosomal recessive 1
Severe combined immunodeficiency disease 1
Severe myoclonic epilepsy in infancy; Seizure disorder 1
Short stature, developmental delay, and congenital heart defects 1
Short stature, idiopathic, X-linked 1
Sick sinus syndrome 1
Siderius X-linked mental retardation syndrome 1
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Sjögren-Larsson syndrome 1
Spastic paraplegia 11, autosomal recessive 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC 1
Spastic paraplegia 44, autosomal recessive 1
Spastic paraplegia 46, autosomal recessive 1
Spastic paraplegia 49, autosomal recessive 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1
Spherocytosis type 4; Renal tubular acidosis, distal, autosomal dominant; Renal tubular acidosis, distal, with hemolytic anemia 1
Spinal muscular atrophy 1
Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 1
Spinocerebellar ataxia 26 1
Spinocerebellar ataxia 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 1
Spinocerebellar ataxia, autosomal recessive 12 1
Spinocerebellar ataxia, autosomal recessive 8 1
Spondylometaphyseal dysplasia, megarbane-dagher-melki type 1
Stargardt disease; Cone-rod dystrophy 1
Stormorken syndrome 1
Subacute lymphoid leukemia 1
Susceptibility to severe cutaneous adverse reaction 1
TANGO2-Related disorder 1
TERT-associated disorder 1
TLK2-Related Disorder 1
TSC2-Related Disorder 1
TTN-Related Disorders 1
TTN-Related disorder 1
Thiamine-responsive megaloblastic anemia 1
Tooth agenesis, selective, X-linked, 1 1
Trabecular adenocarcinoma 1
Transposition of the great arteries, dextro-looped 1 1
Treacher Collins syndrome 1 1
Tuberous sclerosis 1 1
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 1
Turcot syndrome; Lynch syndrome 1
Type A2 brachydactyly 1
Type B brachydactyly 1
UBTF-Related Disorder 1
USP9X related disorders 1
Verheij syndrome 1
Visceral heterotaxy 5, autosomal 1
West syndrome 1
Wieacker Wolff syndrome 1
X-linked intellectual disability syndrome 1
beta Thalassemia 1
mtDNA-related disorders 1

Breakdown by gene #

Total genes and gene combinations: 1640
Download table as spreadsheet
Gene Variants
TSC2 1646
TSC1 583
PAH 536
ABCA4 524
SCN5A 458
KCNH2 416
RYR1 383
VWF 383
CFTR 376
BRCA1 355
KCNQ1 341
BRCA2 306
LMNA 292
MEFV 168
PSEN1 141
TTN 123
BEST1 121
KRT5 121
NLRP3 111
CDKL5, RS1 110
LOC102724058, SCN1A 106
TYR 106
RPGR 104
SLC22A5 104
GFAP 103
NOD2 101
KRT14 99
RPE65 97
KMT2D 95
MECP2 94
NF1 93
MVK 90
PRPH2 89
TNFRSF1A 87
GRN 86
LDLR 86
SCN1A 86
GUCY2D 84
KMT2C 84
NOTCH1 71
NCR1, NLRP7 70
NLRC5 68
DPYD 66
TP53 64
KRT1 62
CRB1 61
CYBB 61
MAPT 61
ARSA 60
APC 56
RECQL4 56
DES 54
NLRP7 54
ZMPSTE24 54
ASB10 52
CAV3 50
KCNJ2 49
ATM 48
MYPN 48
FANCA 47
CHRNA4 45
SETD2 45
WRN 45
CFTR, LOC111674472 44
GPR143 44
BIVM-ERCC5, ERCC5 43
NEFL 43
TET2 43
CACNA1A 42
SRD5A2 42
ERBB2 41
F11 41
MLH1 40
ERCC2 39
CRX 38
EP300 38
KRT6A 37
NLRC3 37
ALK 36
KCNE1 36
PMS2 36
​intergenic 35
ANO5 35
OCRL 35
CHEK2 34
MSH2 34
ADAMTS13 33
ECT2L 33
LOC110121269, SCN5A 33
TNFRSF14 33
AIPL1 32
HNF1A 32
NLRP5 32
NLRP6 32
SLC37A4 32
TPM1 32
CIC 31
EGFR 31
ERCC4 31
BLM 30
CDKL5 30
CREBBP 30
KRT10, TMEM99 30
MET 30
NOTCH2 30
XPC 30
GRIN2A 29
GRM6, LOC100130798 29
NLRX1 29
PPP1R9B 29
NBN 28
NOD1 28
SMARCA2 28
ADA 27
ASXL1 27
BRIP1 27
CEP290 27
CIITA 27
GNAS 27
KRT9 27
PDGFRA 27
JAK3 26
MMUT 26
PTCH1 26
TPP1 26
FGFR3 25
KRT8 25
MPL 25
MSH6 25
PALB2 25
ATM, C11orf65 24
LOC101927267, PRPH 24
NLRP2 24
RET 24
SMARCA4 24
APP 23
ATRX 23
CARD11 23
DKC1 23
KDR 23
TPM2 23
ANK2 22
DPYS 22
FLT3 22
IFNGR2 22
KRT17 22
PMS1 22
RPGRIP1 22
CDH1 21
FLCN 21
KRT12 21
MUTYH 21
NEFH 21
NLRP1 21
ABL1 20
BCOR 20
BNC2 20
BUB1B 20
CAV3, SSUH2 20
DISC1, TSNAX-DISC1 20
IL7R 20
INS, INS-IGF2 20
NLRC4 20
NRG1 20
NYX 20
RAG1 20
RS1 20
SERPINC1 20
ALB 19
AMER1 19
IFNGR1 19
KCNE2 19
KRT16 19
TNFAIP3 19
ARID2 18
CDKN2A 18
EXT2 18
MRE11 18
PRDM1 18
RAD52 18
SERPING1 18
SLC27A4 18
BRAF 17
CDK12 17
CFTR, LOC111674475 17
DUPD1, KAT6B 17
GRM6 17
INSL6, JAK2 17
MYL2 17
NCF2 17
NLRP13 17
TPM3 17
CBL 16
CBLB 16
DICER1 16
FANCE 16
GRIN2B 16
NLRP4 16
PTPN5 16
SMO 16
TULP1 16
AIRE 15
FANCA, ZNF276 15
GATM 15
ITGB2 15
KRAS 15
MYL3 15
NLRP11 15
NLRP12 15
RB1 15
KRT2 14
NEFM 14
NLRP14 14
NLRP8 14
PRKCG 14
ARID1A 13
CARD14 13
ERCC3 13
FANCD2, LOC107303338 13
KIT 13
KRT18, LOC106096416 13
NOTCH3 13
PSEN2 13
RAD50 13
TSHR 13
ATP7B 12
CACNA1C 12
DAG1 12
KLF6 12
NFE2L2 12
SMAD4 12
SRC 12
UPB1 12
AOPEP, FANCC 11
FANCF 11
FANCG 11
PAX2 11
PIK3CA 11
PTPN11 11
SMARCB1 11
USH2A 11
ABCC1 10
CHMP2B 10
EZH2 10
FANCC 10
FGFR2 10
FLT1 10
GRIN1 10
IKBKG 10
KRT86 10
MYBPC3 10
SGCD 10
SLC6A8 10
TNNT1 10
TNNT3 10
ACTG1 9
CLN6 9
FH 9
IDH1 9
IFNGR2, TMEM50B 9
JAK1 9
LRP5 9
MLC1 9
NLRP9 9
PAX5 9
PDCD10 9
PKD1 9
SLC27A3 9
B3GALNT2 8
BCL6, LOC100131635 8
CCM2 8
CDH23 8
COL3A1 8
H19, H19-ICR, MRPL23 8
IFNG 8
JAM2 8
KDM5C 8
KDM6A 8
LPIN2 8
MEN1 8
NF2 8
NLRP10 8
PBRM1 8
POLG 8
PTEN 8
SUFU 8
TENT5C 8
TNNI2 8
UMPS 8
WAS 8
ADGRV1 7
ALMS1 7
ARHGAP26 7
BAP1 7
CD79A 7
CFTR, LOC113664106 7
CYLD 7
DNMT3A 7
ERCC8 7
FBXW7 7
FUBP1 7
GATA3 7
GLB1 7
KRT19 7
LAMA2 7
MYOZ2 7
PPIB 7
SDHD 7
SEMA3A 7
SLC46A1 7
XPA 7
A2ML1 6
CPS1 6
CYBA 6
CYP11B1, LOC106799833 6
DDR2 6
ERCC1 6
EXT1 6
FBN1 6
FREM1 6
FYN 6
HMCN1 6
HRAS, LRRC56 6
KRT13 6
KRT18, KRT8, LOC106096416 6
MED12 6
MIR3936HG, SLC22A5 6
MTOR 6
PPP2R1A 6
SDHB 6
STK11 6
TLR1 6
TLR6 6
VPS13B 6
WDR11 6
ABCA3 5
AICDA 5
ARHGAP10 5
BEST1, FTH1 5
BMPR1A 5
C1QTNF5, MFRP 5
CCBE1 5
CFHR5 5
CNGB1 5
COL11A2 5
COL1A2 5
CRLF2 5
CSRP3 5
DAOA 5
DMD 5
DNM2 5
DSC2, DSCAS 5
DTNBP1 5
FABP3 5
FANCD2, FANCD2OS 5
FAS 5
FBXO11 5
GAMT 5
GATA2 5
LOC100507346, PTCH1 5
LOC114827850, MYL2 5
MT-ATP6 5
NAGS 5
PDLIM3 5
PKD1, TSC2 5
PKHD1 5
SLC40A1 5
SOCS1 5
TERT 5
WT1 5
ACTB 4
CASK 4
COL5A1 4
COL5A2 4
CTNNB1 4
CYP1B1 4
DDB2 4
DSG2 4
FANCG, VCP 4
FLNA 4
GLA, RPL36A-HNRNPH2 4
GPC3 4
GPR179 4
HTRA1 4
IL1RN 4
KCNQ1, KCNQ1OT1 4
LMNB1 4
LMNB2 4
MAP2K2 4
MEF2C 4
MTHFR 4
MYD88 4
NPM1 4
NUCB2 4
PCDH15 4
PPIB, SNX22 4
PPP1R1B 4
PYGM 4
RAB7A 4
RHD, RSRP1 4
SACS 4
SMAD3 4
SPAST 4
STXBP1 4
VHL 4
ZRSR2 4
ACADS 3
AKT1 3
AMELX, ARHGAP6 3
APOE 3
APOL1 3
AQP2, LOC101927318 3
ASXL3 3
B4GALT7 3
CACNA1H 3
CARD14, SGSH 3
CBLIF 3
CBS 3
CD79B, GH-LCR 3
CDC73 3
CDK4 3
CEP128, TSHR 3
CHST14 3
COL2A1 3
COL6A2 3
CPSF1 3
DARS2 3
DISC1, LINC00582, TSNAX-DISC1 3
DOCK8 3
DPM3 3
DYSF 3
EFHC1 3
ENO3 3
ERBB4 3
FABP5 3
FAM83H 3
FIP1L1 3
GALT 3
GLYCTK 3
GNPTAB 3
HAX1 3
HSPB1 3
KAT6B 3
KNG1 3
KRIT1 3
KRT10 3
KRT3 3
KRT6B 3
KRT6C 3
KRT74 3
KRT81, KRT86 3
LAMA4 3
LOC107303340, VHL 3
LOXHD1 3
LPL 3
LRAT 3
LRP1 3
LRP2 3
MERTK 3
MMACHC 3
MTUS1 3
MYH11 3
MYH9 3
NKAIN2 3
NRAS 3
NT5C2 3
OPA1 3
PCBD1 3
PDE6B 3
PFKM 3
PHOX2B 3
PIGT 3
PIK3R1 3
POLD1 3
POLE 3
POMT2 3
PPP1CA 3
PPP1CB 3
PPP1CC 3
PROM1 3
PSTPIP1 3
PYCR1 3
RAF1 3
RYR2 3
RYR3 3
SARM1, SLC46A1 3
SCN2A 3
SDHC 3
SERPINA1 3
SERPINF1 3
SETBP1 3
SLC6A1 3
SPG7 3
TGFB2 3
TLR2 3
TLR4 3
TRPV3 3
WNT10A 3
ZDHHC3 3
AADAC, AADACL2 2
ABCB1 2
ABCC4 2
ABCC6 2
ABCC8 2
ABCC9 2
ACACB 2
ACADM 2
ACE 2
ACO2 2
ACVRL1 2
ADA, LOC107303343 2
AHDC1 2
ALDH5A1 2
ALOX5 2
ALPL 2
AMN 2
ANKRD11 2
APEX1 2
ARMS2 2
ATP13A2 2
AVPR2 2
BBS1 2
BBS12 2
BCR 2
BFSP2 2
C12orf43, HNF1A 2
C19orf12 2
C3orf20 2
CA4 2
CACHD1 2
CACNA1F 2
CACNA1G 2
CACNA2D4 2
CASR 2
CAT 2
CBX2 2
CCDC3, LOC107275223 2
CDK4, TSPAN31 2
CDK5RAP2 2
CEBPA 2
CFHR4 2
CFTR, LOC111674477 2
CHD2 2
CHD7 2
CHN1 2
CHRNA7 2
CNGB3 2
CNOT2 2
CNTN5 2
COL1A1 2
COL4A1 2
COL6A1 2
COL7A1 2
CPOX 2
CTNNA3 2
CUBN 2
CYP11B1 2
CYP17A1 2
CYP26B1 2
DCTN1 2
DDOST 2
DDX11 2
DEPDC5 2
DHCR7 2
DSP 2
EARS2 2
EDAR 2
EIF2B2 2
ELP2 2
ELP3 2
EMC1 2
ENPP1 2
EPS8 2
ETHE1 2
FANCA, LOC112486223 2
FANCD2 2
FANCM 2
FASN 2
FERMT1 2
FLG 2
FLNC 2
FOXL2 2
FOXRED1 2
FRG1 2
GATA1 2
GATAD2B 2
GBE1 2
GFER 2
GNB5 2
GNL2 2
GNPTG 2
GOLGA6L6 2
GOLPH3, PDZD2 2
GOSR2, LRRC37A2 2
GP1BA 2
GRIA1 2
GRM5 2
H19-ICR, MRPL23 2
HBB, LOC107133510, LOC110006319 2
HNF4A 2
HPN 2
IGH, IGHM 2
IMMP2L 2
KCNE1, KCNE2, RCAN1, SMIM11A 2
KCNK12, MSH2 2
KCNV2 2
KDM5B 2
KIF1A 2
KIF26B 2
KLF8 2
KLK3 2
KRBA1 2
KRT4 2
KRT83 2
LAMA1 2
LINC01237, LINC01238, LINC01880, LINC01881, LOC285097 2
LINC01237, LINC01880, LINC01881, LOC285097 2
LINC02055 2
LMBRD1 2
LOC100996842, MPDU1 2
LOC101927055, TTN 2
LOC116268429, LOC116268430, LOC116268431, SLC2A14, SLC2A3 2
LOC730100 2
LRRK1 2
LRSAM1 2
LTBP4 2
LZTR1 2
MARS1 2
MBD5 2
MC1R 2
MECR 2
MKKS 2
MPZ 2
MRPL44 2
MSRB3 2
MT-CYB 2
MT-ND2 2
MT-ND4 2
MT-RNR1 2
MUC6 2
MYH6 2
MYO7A 2
NEBL 2
NLGN1 2
NLRP11, NLRP4 2
NRXN1 2
OCA2 2
OTOG 2
OTOGL 2
PAX6 2
PDE6A 2
PHEX 2
PHF6 2
PHIP 2
PIEZO2 2
PIGO 2
PINK1 2
PLA2G7 2
PLEC 2
PLEKHG5 2
PNPLA1 2
PRKAR1A 2
PRKG1 2
PRMT7 2
PTPRQ 2
QRFPR 2
RAD50, TH2-LCR, TH2LCRR 2
RBMX 2
RHCE 2
RHO 2
RP1 2
RTTN 2
SARS2 2
SCN1B 2
SCN8A 2
SDK1 2
SEPTIN12 2
SF3B1 2
SHANK3 2
SKIV2L 2
SLC26A5 2
SLC2A1 2
SLC4A1 2
SMAD2 2
SOS1 2
SPANXA1, SPANXA2 2
SPTBN2 2
STAG1 2
STAT1 2
TACR3 2
TBC1D24 2
TCF12 2
TCN2 2
TGFBR2 2
TMC1 2
TMEM72 2
TNNI3, TNNT1 2
TRIOBP 2
TRPM3 2
TSPEAR 2
UNC80 2
VAPB 2
WDR45 2
WFS1 2
XPO1 2
ZFHX4 2
ZNF335 2
ZNF469 2
ZNF595 2
ZNF746 2
ZSWIM6 2
AARS1 1
ABAT 1
ABCB4 1
ABCB6 1
ABCB7 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1, NOMO3, XYLT1 1
ABCD3, F3, MIR12133, SLC44A3 1
ABCD4 1
ABCG2 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, CARS2, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, FAM155A, GAS6, GRTP1, ING1, IRS2, LAMP1, LIG4, LINC00565, LINC00567, MCF2L, MYO16, NAXD, PCID2, PROZ, RAB20, RASA3, SOX1, SPACA7, TEX29, TFDP1, TMCO3, TMEM255B, TNFSF13B, TUBGCP3, UPF3A 1
ABL1, LOC107980440 1
ABR, BHLHA9, TRARG1 1
ACAD8 1
ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAJB4, DNASE2B, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TCTEX1D1, TNNI3K, TTLL7, TYW3, USP33, WDR63, WDR78, WLS, ZNHIT6, ZRANB2, ZZZ3 1
ACBD6, LHX4 1
ACD 1
ACKR3 1
ACOT2 1
ACP5, ANGPTL8, AP1M2, ATG4D, C19orf38, CARM1, CCDC151, CCDC159, CDKN2D, CNN1, DHPS, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FBXW9, ILF3, KANK2, KRI1, LDLR, MAN2B1, MIR199A1, PRKCSH, QTRT1, RAB3D, RGL3, SLC44A2, SMARCA4, SPC24, SWSAP1, TIMM29, TMED1, TMEM205, TNPO2, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101927817, LOC101928737, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZFPM1, ZNF469, ZNF778 1
ACSF3, APRT, CBFA2T3, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469 1
ACSL3 1
ACSM5 1
ACTG2 1
ACTN2 1
ACVR2A, MBD5, ORC4 1
ACY3, ALDH3B2, C11orf72, NDUFV1, NUDT8, TBX10 1
ACYP1, NPC2 1
ADAM28, ADAM7, ADAMDEC1, ADRA1A, ASAH1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FAM160B2, FBXO16, FGF17, FGL1, FZD3, GFRA2, GNRH1, GSR, GTF2E2, HMBOX1, HR, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LOC101929066, LOXL2, LPL, LZTS1, MBOAT4, MIR320A, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NRG1, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, PNOC, POLR3D, PPP2CB, PPP2R2A, PPP3CC, PSD3, PTK2B, PURG, R3HCC1, RBPMS, REEP4, RHOBTB2, SARAF, SCARA3, SCARA5, SFTPC, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SMIM18, SORBS3, STC1, STMN4, TEX15, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, UBXN8, VPS37A, WRN, XPO7, ZDHHC2, ZNF395 1
ADAMTS9 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, FAM228A, FAM228B, FKBP1B, ITSN2, MFSD2B, NCOA1, PFN4, POMC, PTRHD1, SF3B6, TP53I3, WDCP 1
ADGRE2 1
ADGRG7, TFG 1
ADH4, LOC100507053 1
ADORA2A, CRYBB2, CRYBB3, GGT1, GRK3, GUCD1, KIAA1671, LRP5L, LRRC75B, PIWIL3, SGSM1, SNRPD3, SPECC1L, TMEM211, UPB1 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, ODF3L1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1
AGAP10, AGAP4, ANXA8L1, FAM25E, GPRIN2, NPY4R, SYT15, WASHC2C 1
AGAP10, ANXA8L1, NPY4R 1
AGBL4, AGBL4-IT1 1
AGL 1
AGO1 1
AGO2, CHRAC1, TRAPPC9 1
AGPAT4, MAP3K4 1
AGTPBP1 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, C1orf194, CELSR2, CLCC1, CSF1, CYB561D1, ELAPOR1, EPS8L3, FAM102B, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, MIR197, MYBPHL, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47 1
AHNAK2 1
AIMP1 1
AKAP12 1
AKR1C3 1
AKR1C4 1
ALDH18A1 1
ALDH3A2 1
ALDOB 1
ALG11, ATP7B, CCDC70, CKAP2, CNMD, DHRS12, FAM124A, HNRNPA1L2, INTS6, LINC00558, NEK3, NEK5, OLFM4, PCDH8, SERPINE3, SUGT1, THSD1, UTP14C, VPS36, WDFY2 1
ALKAL1, RB1CC1 1
ALOX5AP 1
AMPD1 1
AMPH, CDK13, MPLKIP, POU6F2, RALA, SUGCT, VPS41, YAE1 1
AMY1A, AMY2A 1
ANAPC4, PI4K2B, SEPSECS, ZCCHC4 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1
ANKRD36C 1
ANKS1B 1
ANLN 1
ANO9, PKP3, SIGIRR 1
ANTXR2 1
AOC1 1
APBA1 1
APIP, PDHX 1
APLNR, BTBD18, CLP1, LRRC55, MED19, MIR130A, OR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AK2, OR5AP2, OR5AR1, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5R1, OR5T1, OR5T2, OR5T3, OR5W2, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR9G1, OR9G4, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, TRIM48, TRIM51, UBE2L6, YPEL4, ZDHHC5 1
APOB 1
APOBEC3D, APOBEC3F 1
AR 1
ARAF 1
ARFGEF2 1
ARG1, MED23 1
ARHGAP11B, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC100996413, LOC102725021, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 1
ARHGAP24 1
ARHGAP8, PRR5-ARHGAP8 1
ARID1B 1
ARID4A 1
ARL17A, ARL17B, KANSL1, LOC112533643, LRRC37A 1
ARL17B, KANSL1 1
ARL17B, KANSL1, LRRC37A 1
ARL6IP5, EOGT, LMOD3, TAFA1, TAFA4, TMF1, UBA3 1
ARPP21 1
ARX, LOC109610631 1
ASAH1 1
ASCL3 1
ASS1 1
ASTN1 1
ASTN2, TRIM32 1
ATAD3B, ATAD3C 1
ATP5PO, CRYZL1, DNAJC28, DONSON, GART, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE2, MRPS6, OLIG1, OLIG2, SLC5A3, SMIM11A, SON, TMEM50B 1
ATP6V0E2, C7orf33, CNTNAP2, CUL1, EZH2, KRBA1, LOC100134040, PDIA4, RNY1, RNY3, RNY4, RNY5, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF777, ZNF783, ZNF786, ZNF862 1
ATP8B3 1
ATR 1
ATRX, MAGT1 1
AVEN, RYR3 1
AXIN2 1
B3GALNT2, TBCE 1
B3GLCT 1
B4GALNT4, IFITM1, IFITM2, IFITM3, IFITM5, LOC116216126, NLRP6, PGGHG, PKP3 1
BAIAP2L1, BRI3 1
BARD1 1
BAZ1B 1
BAZ2B, LOC643072 1
BBS2 1
BBS5 1
BBS7 1
BBS9 1
BCAP31 1
BCHE 1
BCL11A 1
BCL11B 1
BCL6 1
BCR, LOC107963955 1
BDKRB2 1
BHMT 1
BICD2 1
BIN1 1
BLOC1S1-RDH5, RDH5 1
BMP1 1
BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PPIE 1
BMPR1B 1
BPIFA3 1
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 1
BRINP3 1
BRPF1 1
BRWD1 1
BRWD3 1
BTD 1
BTK 1
BTRC, LBX1 1
BUB1B, BUB1B-PAK6 1
C10orf105, CDH23 1
C12orf29, CEP290 1
C16orf74 1
C1S 1
C1orf194, CLCC1, ELAPOR1, GPSM2, SARS1, TAF13, TMEM167B, WDR47 1
C2orf80 1
C3 1
C8orf48, DLC1, LOC102725080 1
CA4, HEATR6 1
CACNA1I 1
CACNA1S 1
CACNA2D3 1
CACNB2 1
CALML4 1
CAMK2G 1
CAPG 1
CAPN3 1
CARS2 1
CASP12 1
CATSPER2, STRC 1
CATSPER4 1
CBWD1, DOCK8, FOXD4, LINC01388, LOC110120718, PGM5P3 1
CCDC102B 1
CCDC103, GFAP 1
CCDC178 1
CCDC190 1
CCDC22 1
CCDC88A 1
CCNC, TSTD3 1
CD160, PDZK1, RNF115 1
CD19 1
CDCA7L, DNAH11 1
CDH23, PSAP 1
CDH3 1
CDK11A, SLC35E2A 1
CDK11A, SLC35E2A, SLC35E2B 1
CDKL3, UBE2B 1
CDKN1A 1
CDKN1B 1
CDKN1C 1
CDKN2C 1
CDT1 1
CELA2A 1
CELA2A, CELA2B 1
CEP152 1
CEP63 1
CERCAM, GLE1, ODF2, PKN3, SET, SPTAN1, WDR34, ZDHHC12, ZER1 1
CETN2, CSAG1, MAGEA2, MAGEA3, NSDHL 1
CFAP157, PTRH1 1
CFAP46, INPP5A, NKX6-2 1
CFH 1
CFTR, LOC111674467 1
CGAS 1
CHAT 1
CHCHD10 1
CHD1 1
CHD3 1
CHD8 1
CHIT1 1
CHRM3 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1
CHRNG, TIGD1 1
CIZ1 1
CLCN4 1
CLN8 1
CLRN1 1
CLTC 1
CMPK2, RNF144A, RSAD2, SOX11 1
CNGA1, LOC101927157 1
CNGA3 1
CNST, SMYD3, TFB2M 1
CNTN6, LINC01266 1
CNTNAP2 1
COA6 1
COASY 1
COG6 1
COL10A1, NT5DC1 1
COL21A1 1
COL4A5 1
COL5A1, LOC101448202 1
COL8A1 1
COL9A2 1
CORO7-PAM16, PAM16 1
CPN1 1
CPNE6 1
CPPED1 1
CPSF1, MIR939 1
CPT2 1
CRAT 1
CRIP1, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, TEDC1, TMEM121 1
CRPPA 1
CRTAM 1
CSMD1 1
CSNK1A1 1
CSNK2A1 1
CSNK2B 1
CSRNP1 1
CSTB 1
CTDSPL 1
CTNS, EMC6, P2RX5, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1 1
CTSA, NEURL2 1
CTSC 1
CX3CR1 1
CXorf21, DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1
CYB5R4, LOC113175019, LOC116183065, RIPPLY2 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1
CYP21A2, LOC106780800 1
CYP21A2, LOC106780800, TNXB 1
CYP26A1 1
CYP2A6, LOC110673974 1
CYP2C19, LOC110599570, LOC111982881 1
CYP2E1, LOC110599585, MTG1, SPRN, SYCE1 1
CYP2E1, LOC110599585, SYCE1 1
CYP2U1, HADH, LEF1, PAPSS1, SGMS2 1
CYP3A5, ZSCAN25 1
CYP4V2 1
DBNL, PGAM2 1
DCHS2, MND1, RNF175, SFRP2, TLR2, TMEM131L, TRIM2 1
DDTL, DERL3, GSTT2B, MIF, SLC2A11, SMARCB1 1
DDX3X 1
DGCR5, DGCR6, DGCR9, FAM230F, HSERVPRODH, PRODH 1
DGUOK 1
DHRS4L1, DHRS4L2 1
DHTKD1 1
DHX29 1
DIP2C 1
DISC1, DISC2, TSNAX-DISC1 1
DLC1, LONRF1, TRMT9B 1
DMAC2, LOC110121465 1
DMXL2, GLDN 1
DNAH1 1
DNAH14 1
DNAH3, LYRM1 1
DNAH5 1
DNAJB13 1
DNAJB13, PAAF1, UCP2 1
DNMT1 1
DOCK3 1
DOCK4 1
DOCK6 1
DOCK8, KANK1 1
DOK6 1
DPAGT1, HMBS 1
DPH6 1
DPH6-DT 1
DPP4 1
DPY19L2, LOC108720144 1
DRP2 1
DSG1, DSG4 1
DTX2, UPK3B 1
DVL1 1
DYNC1H1 1
DYNC1LI1 1
DYRK1A 1
DYTN 1
EBF3 1
EDA 1
EDNRB 1
EEF1A2 1
EEF2 1
EFCAB5 1
EHD4, LOC105370792, SPTBN5 1
ELANE 1
ELN 1
ELOVL5 1
ELOVL6, LOC116158506 1
ELP1 1
EPB41 1
EPHA3 1
EPHB2 1
ESPN 1
ESR1 1
EXOC4 1
EXOSC8 1
EYS 1
F9 1
FABP7 1
FADS2 1
FAM110C 1
FAM126A 1
FAM126B, NDUFB3 1
FAM20A 1
FAM81A 1
FANCI, POLG 1
FBN2 1
FBP1 1
FBXW4 1
FCGR2A, HSPA6, TRG-GCC2-1, TRG-TCC2-6, TRL-CAG1-6 1
FDPS, RUSC1 1
FGF12 1
FHOD1 1
FKBP15, SLC31A1 1
FKRP 1
FLNB 1
FN1 1
FOXE3, LINC01389 1
FOXF2 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841 1
FRG2C, LINC00960, LINC02018, LOC112935961, MIR1324 1
FSCN2 1
FYB2 1
FZD4 1
G6PC 1
G6PD 1
GABRA6 1
GABRG2 1
GADD45GIP1 1
GALC 1
GALNT13 1
GAREM2, HADHA 1
GARS1 1
GAS8, PRDM7 1
GATAD1, PEX1 1
GBA, LOC106627981 1
GBA2 1
GH-LCR, SCN4A 1
GIPC3 1
GJB2 1
GJC2 1
GK2, LINC00989, LINC01088, NAA11 1
GLI3 1
GLMN 1
GLRA1 1
GLRX5 1
GLT1D1, SLC15A4, TMEM132C, TMEM132D 1
GNA11 1
GNPAT 1
GOLGA4 1
GOLGA6L6, OR4M2, OR4N4, POTEB, POTEB2 1
GP9 1
GPR35 1
GRHPR 1
GRIA2 1
GRIA3 1
GRID1 1
GRID2 1
GRIK4 1
GRK3, LRP5L 1
GRXCR1 1
GSTP1 1
GTF2F2, KCTD4, LOC101929259, TPT1 1
GTPBP3 1
GUCA1B 1
GYG2 1
GYS1 1
HADHB 1
HAO1, PLCB1, TMX4 1
HBA1, HBA2, LOC106804612, LOC106804613 1
HBA1, LOC106804613 1
HBB, LOC106099062, LOC107133510 1
HCFC1 1
HCG26, HCP5, LINC01149, MICA, MICB-DT 1
HCG4B 1
HEATR9 1
HECW2 1
HERC2 1
HFE 1
HFE, LOC108783645 1
HGF 1
HIF1A, PRKCH, SNAPC1, SYT16, TMEM30B 1
HIP1 1
HIVEP2 1
HK3 1
HLA-A 1
HLA-B 1
HMGB3 1
HNRNPCL1, PRAMEF11 1
HOXA1 1
HRG 1
HSD17B10 1
HSD17B4 1
HSD3B1 1
HSF4 1
HSPB8 1
HTT, LOC109461479 1
HUWE1 1
IARS2 1
IDH2 1
IDUA 1
IFT74 1
IGF1R 1
IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23 1
IGH, IGHD3-3, IGHV3-23 1
IL1B 1
IL1RAPL1 1
IL36RN 1
INHBA 1
IQCE 1
IQGAP1 1
IQSEC2 1
ITGA7 1
ITK 1
ITPR1 1
ITSN1 1
IZUMO2, KCNC3, LOC111811967, LOC400710, MYH14, NAPSA, NR1H2, POLD1, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, VRK3, ZNF473 1
JADE1, SCLT1 1
JAG1 1
JRKL, LINC02737 1
JUN 1
KANK1 1
KAT5 1
KAT6A 1
KCCAT333 1
KCNA1 1
KCNJ10 1
KCNJ11 1
KCNJ6 1
KCNQ2 1
KCNQ4 1
KDM1A 1
KDM5A 1
KIAA1210 1
KIDINS220 1
KIF21B 1
KIF23, LOC145694, PAQR5 1
KIR3DL1, NLRP7 1
KIRREL3 1
KISS1R 1
KLF1 1
KLHL1 1
KMT2C, LINC01003 1
KRT75 1
KRT85 1
LAMP2 1
LDB3 1
LINC00276 1
LINC00343 1
LINC00621 1
LINC00659, NTSR1 1
LINC00871 1
LINC01192 1
LINC01216 1
LINC01250 1
LINC01322 1
LINC01566, LOC112268173, LOC112441448 1
LINC01722 1
LINC01826 1
LINC01903, LOC643542 1
LINC01950 1
LINC01957, LOC101927078 1
LINC02018, LOC112935961 1
LINC02089, LINC02876 1
LINC02112 1
LINC02208 1
LINC02267 1
LINC02316, LINC02328 1
LINC02415 1
LINC02510, LINC02511 1
LINC02706, LINC02714, LOC283177 1
LINGO2 1
LIPT1, MITD1 1
LMNTD1 1
LOC100128979, TPM1 1
LOC100133091, LOC108228209, POMZP3, SPDYE16, UPK3B 1
LOC100505915, LOC112340378, MIR3180-4, MIR6511B2, MPV17L, NPIPA5, PDXDC1, RRN3 1
LOC101928924, OCLN 1
LOC101929057, MDN1 1
LOC101929572, OR11H12, OR11H2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3, POTEG, POTEM 1
LOC101929572, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM 1
LOC105371049, PKD1 1
LOC106099062, LOC107133510 1
LOC106694315, MPO 1
LOC106694316, MPO 1
LOC107372315 1
LOC108281140, MEGF6 1
LOC108942766, LOC116268429, LOC116268430, LOC116268431, NANOG, SLC2A14, SLC2A3 1
LOC108942766, LOC116268429, NANOG, SLC2A14, SLC2A3 1
LOC110120572 1
LOC110673974 1
LOC111255645, LOC389641 1
LOC111429611 1
LOC111828495, SAFB2, TINCR 1
LOC111828512, MOGAT1 1
LOC112340392, SULT1A1, SULT1A2 1
LOC112529895, SCO1 1
LOC112533660, PRKCA 1
LOC116183048, LOC116183049, TRI-AAT2-1, TRI-AAT8-1, TRR-ACG2-4, TRS-CGA3-1, TRT-AGT2-2, TRV-AAC4-1 1
LOC116276448 1
LOC284344, PSG4, PSG5, PSG9 1
LOX, SRFBP1 1
LPCAT1 1
LRATD2 1
LRIT3 1
LRP1B 1
LRP5L 1
LRP6 1
LRPPRC 1
LRRC14B 1
LRRC37A2, NSF 1
LRRC69 1
LTA4H 1
LTBP2 1
MACROD2 1
MAF 1
MAGEC1 1
MANBA 1
MAP2K1 1
MAP3K7 1
MAP4K3 1
MASP2 1
MATR3 1
MAVS 1
MBL2 1
MC4R 1
MCCC1 1
MCCC2 1
MCM8 1
MCM9 1
MCOLN1 1
MCTP1 1
MCUB 1
MDN1 1
MED13 1
MED13L 1
MED23 1
MEIS2 1
MFN1 1
MGAM 1
MGC4859 1
MGME1 1
MGMT 1
MIR183 1
MIR3910-1, MIR3910-2 1
MITF 1
MMAA 1
MMAB 1
MMAB, MVK 1
MMP2 1
MMP20 1
MNDA, OR6N1 1
MORC2 1
MPI 1
MPO 1
MPP6 1
MPST 1
MPV17L2 1
MRGPRX1 1
MRPL3 1
MRPS30 1
MSH3 1
MSL2 1
MSR1 1
MST1 1
MT-CO1 1
MT-CO3 1
MT-ND1 1
MT-ND6 1
MT-RNR2 1
MT-TE 1
MT-TG 1
MT-TH 1
MT-TI 1
MT-TL2 1
MT-TT 1
MT-TV 1
MT-TW 1
MT-TY 1
MTFMT 1
MTHFD1 1
MTHFD2L 1
MTMR2 1
MTR 1
MUC12 1
MUC5B 1
MXRA5 1
MYH14 1
MYH2, MYHAS 1
MYH7 1
MYL10 1
MYLK 1
MYO15A 1
MYO1A 1
MYO1D 1
MYO3B 1
MYO6 1
MYOM1 1
NAIP 1
NARS2 1
NBN, OSGIN2 1
NCOA4 1
NDUFA1 1
NDUFA4 1
NDUFAF7 1
NDUFS4 1
NDUFV1 1
NEB, RIF1 1
NECTIN4 1
NEDD4L 1
NEFL, NEFM 1
NEXMIF 1
NFIA 1
NHSL1 1
NIPA1 1
NMI 1
NODAL 1
NOXA1 1
NPC1 1
NPIPB5 1
NQO1 1
NRCAM 1
NRDE2 1
NRG3 1
NRL, PCK2 1
NRN1L 1
NRXN2 1
NTRK1 1
NUBPL 1
OPA3 1
OPRM1 1
OR2J2 1
OR4C12 1