Heart Disease,Seizure Disorder,Kleefstra Syndrome,Pectus Carinatum,Deletion 5q35,Overgrowth Syndrome,Alpha Thalassemia-X-Linked Intellectual Disability Syndrome,Leukemia,5q35 Microduplication Syndrome,Cryptorchidism, Unilateral Or Bilateral,Leukemia, Acute Myeloid,Hereditary Spastic Paraplegia,Ganglioglioma,Spastic Paraplegia 8,Hyperinsulinemic Hypoglycemia,Wilms Tumor Predisposition,Myeloid Leukemia,Pre-Eclampsia,Patent Foramen Ovale,Marshall-Smith Syndrome,Farsightedness,Microcephaly,Weaver Syndrome,Sotos Syndrome 1,Alacrima, Achalasia, And Mental Retardation Syndrome,Cleft Palate, Isolated,Disease Of Mental Health,Kleefstra Syndrome 1,Alpha-Thalassemia,Developmental And Epileptic Encephalopathy 2,Beckwith-Wiedemann Syndrome,Lipedema,Cornelia De Lange Syndrome 5,Neuropathy, Hereditary Sensory, Type Ie,Myelodysplastic Syndrome,Preeclampsia/Eclampsia 1,Uvula, Bifid,Williams-Beuren Syndrome,Hypertelorism,Wolf-Hirschhorn Syndrome,Patent Ductus Arteriosus 1,Kabuki Syndrome 1,Scoliosis,Autosomal Dominant Non-Syndromic Intellectual Disability,Omphalocele,Macroglossia,Autism,Childhood Acute Myeloid Leukemia

Primary Hyperoxaluria,Meier-Gorlin Syndrome 1,Mental Retardation, Autosomal Dominant 51,Autism Spectrum Disorder,Autism,Hyperoxaluria, Primary, Type I

Skin Melanoma,Retinitis Pigmentosa,Cll/Sll,Chronic Myelomonocytic Leukemia,Melanoma,Breast Myoepithelial Carcinoma,Clear Cell Renal Cell Carcinoma,Diffuse Midline Glioma, H3 K27m-Mutant,B-Cell Lymphoma,Atypical Teratoid Rhabdoid Tumor,Essential Thrombocythemia,Posterior Fossa Ependymoma,Cholangiolocellular Carcinoma,Neuroblastoma,Primary Cutaneous Follicle Center Lymphoma,Leukemia, Acute Myeloid,Secondary Hemophagocytic Lymphohistiocytosis,Bone Marrow Cancer,Transitional Cell Carcinoma,Ezh2-Related Overgrowth,Bladder Cancer,Bile Duct Adenoma,Primary Hyperoxaluria,Ovarian Cancer,T-Cell Acute Lymphoblastic Leukemia,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Malignant Peripheral Nerve Sheath Tumor,Rhabdomyosarcoma,Weaver Syndrome,Tongue Disease,Sotos Syndrome 1,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Rhabdoid Cancer,Fragile X Syndrome,Lymphoma, Non-Hodgkin, Familial,Beckwith-Wiedemann Syndrome,Esophageal Cancer,Myelodysplastic Syndrome,Diffuse Large B-Cell Lymphoma,Ewing Sarcoma,Mantle Cell Lymphoma,Splenic Marginal Zone Lymphoma,Tongue Squamous Cell Carcinoma,Acute Promyelocytic Leukemia,Follicular Lymphoma,Ovarian Clear Cell Carcinoma,Nasopharyngeal Carcinoma,Lymphoma,Brain Glioma,Kabuki Syndrome 1,Juvenile Myelomonocytic Leukemia,Autosomal Dominant Non-Syndromic Intellectual Disability,Rett Syndrome,Myelofibrosis,Myeloma, Multiple,Medulloblastoma,Melanoma, Uveal,Childhood Acute Myeloid Leukemia,Lung Cancer,Hyperoxaluria, Primary, Type I,Pancreatic Cancer,Polycythemia Vera

Facioscapulohumeral Muscular Dystrophy 1,Sotos Syndrome 1,Pulpitis,Mental Retardation, Autosomal Dominant 52,Autism Spectrum Disorder,Autosomal Dominant Non-Syndromic Intellectual Disability,Autism

Primary Hyperoxaluria,Carbohydrate Metabolic Disorder,Hyperoxaluria, Primary, Type I

Peritoneum Cancer,Lung Cancer Susceptibility 3,Collecting Duct Carcinoma,Clear Cell Renal Cell Carcinoma,Chromophobe Renal Cell Carcinoma,Corpus Callosum, Agenesis Of,Enteropathy-Associated T-Cell Lymphoma,Retinal Ischemia,Acute Leukemia,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Kidney Cancer,Dandy-Walker Syndrome,Acute Megakaryoblastic Leukemia Without Down Syndrome,Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag,Brain Cancer,Squamous Cell Carcinoma, Head And Neck,Colorectal Cancer,Age-Related Hearing Loss,Pheochromocytoma,Weaver Syndrome,Hepatosplenic T-Cell Lymphoma,Sotos Syndrome 1,Prostate Cancer,Renal Cell Carcinoma, Papillary, 1,Hydrocephalus, Congenital, 1,Renal Cell Carcinoma, Nonpapillary,Uterine Corpus Endometrial Carcinoma,Wolf-Hirschhorn Syndrome,Autism Spectrum Disorder,Luscan-Lumish Syndrome,Autism,Lung Cancer

Charge Syndrome,Plasma Cell Neoplasm,Cold Agglutinin Disease,Kleefstra Syndrome,Cavernous Sinus Meningioma,Rasopathy,Holoprosencephaly,Hypoplastic Left Heart Syndrome,Leukemia, Acute Myeloid,Dandy-Walker Syndrome,Rubinstein Taybi Like Syndrome,Breast Malignant Phyllodes Tumor,Microphthalmia,Microcephaly,Weaver Syndrome,Sotos Syndrome 1,Alacrima, Achalasia, And Mental Retardation Syndrome,Fanconi Anemia, Complementation Group A,Disease Of Mental Health,Complement Component C1s Deficiency,Chromosome 16p13.3 Deletion Syndrome, Proximal,Mental Retardation, Autosomal Dominant 26,Childhood Medulloblastoma,Lung Squamous Cell Carcinoma,Smith-Magenis Syndrome,Spinocerebellar Ataxia 2,Tetralogy Of Fallot,Peripheral T-Cell Lymphoma,Congenital Disorder Of Glycosylation, Type Ig,Autism Spectrum Disorder,Lymphoma,Kabuki Syndrome 1,Kbg Syndrome,Methylmalonic Acidemia And Homocysteinemia, Cblx Type,Scoliosis,Autosomal Dominant Non-Syndromic Intellectual Disability,Myeloma, Multiple,Medulloblastoma,Isolated Growth Hormone Deficiency Type Iii,Postaxial Acrofacial Dysostosis

Meier-Gorlin Syndrome 1,Fanconi Anemia, Complementation Group A

Kleefstra Syndrome,Choline Deficiency Disease,Brain Cancer,Cockayne Syndrome,Primary Hyperoxaluria,Carbohydrate Metabolic Disorder,Prader-Willi Syndrome,Disease Of Mental Health,Kleefstra Syndrome 1,Basan Syndrome,Hyperoxaluria, Primary, Type I

Childhood Acute Lymphocytic Leukemia,Lymphoblastic Lymphoma,Hypertrichosis,Chronic Neutrophilic Leukemia,Chronic Myelomonocytic Leukemia,Cornelia De Lange Syndrome,Leukemia, Chronic Myeloid,Acute Myeloid Leukemia With T(9;11)(P22;Q23),B-Lymphoblastic Leukemia/Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,B-Lymphoblastic Leukemia/Lymphoma With Iamp21,Rare Genetic Intellectual Disability,Myeloproliferative Neoplasm,Leukemia,Pancytopenia,Mixed Phenotype Acute Leukemia,Childhood Leukemia,Acute Leukemia,Leukemia, Acute Myeloid,Acute Myeloid Leukemia With 11q23 Abnormalities,Intravascular Large B-Cell Lymphoma,Familial Isolated Trichomegaly,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Ring Chromosome 21,Acute Megakaryoblastic Leukemia Without Down Syndrome,Rubinstein Taybi Like Syndrome,Central Nervous System Leukemia,Monocytic Leukemia,Ring Chromosome,Myeloid Sarcoma,Myeloid Leukemia,Acute Megakaryocytic Leukemia,Acute Monoblastic Leukemia,Colon Leiomyoma,Cytogenetically Normal Acute Myeloid Leukemia,Microcephaly,Hypoxia,Chronic Granulomatous Disease,Alacrima, Achalasia, And Mental Retardation Syndrome,Leukemia, Acute Lymphoblastic 3,Disease Of Mental Health,Cornelia De Lange Syndrome 1,Lymphoma, Non-Hodgkin, Familial,Wiedemann-Steiner Syndrome,Myelodysplastic Syndrome,Hairy Elbows,Acute Promyelocytic Leukemia,Wilms Tumor 1,Kabuki Syndrome 1,Kbg Syndrome,Leukemia, Acute Monocytic,Leukemia, Chronic Lymphocytic,Juvenile Myelomonocytic Leukemia,Autosomal Dominant Non-Syndromic Intellectual Disability,Autism

Kleefstra Syndrome,Deafness, Autosomal Dominant 47,Hypoplastic Left Heart Syndrome,Polymicrogyria,Kleefstra Syndrome Due To A Point Mutation,Pontocerebellar Hypoplasia, Type 2a,Weaver Syndrome,Sotos Syndrome 1,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Kleefstra Syndrome 1,Chromosome 16p13.3 Deletion Syndrome, Proximal,Pitt-Hopkins Syndrome,Schizophrenia,Ogden Syndrome,Autism Spectrum Disorder,Kabuki Syndrome 1,Autosomal Dominant Non-Syndromic Intellectual Disability,Chromosomal Deletion Syndrome,Autism,Christianson Syndrome

Primary Hyperoxaluria,Hyperoxaluria, Primary, Type I

Weaver Syndrome,Sotos Syndrome 1,Kleefstra Syndrome 1,Wolf-Hirschhorn Syndrome,Nut Midline Carcinoma,Childhood Acute Myeloid Leukemia