3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome,Narcolepsy,Myopathy,Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract,Neuromuscular Disease,Cataract 30,Muscular Dystrophy,Inflammatory Liposarcoma,Dilated Cardiomyopathy,Muscular Dystrophy, Congenital, Megaconial Type,Cataract 7,Hypersomnia,Lenz-Majewski Hyperostotic Dwarfism,Batten-Turner Congenital Myopathy,Sengers Syndrome,Proximal Myopathy With Focal Depletion Of Mitochondria

Retinitis Pigmentosa,Polyploidy,Plasma Protein Metabolism Disease,Primary Central Nervous System Lymphoma,Diamond-Blackfan Anemia,Myeloid Leukemia,Prostate Cancer,Mantle Cell Lymphoma

Retinitis Pigmentosa,Degeneration Of Macula And Posterior Pole,Eye Degenerative Disease,Leber Plus Disease,Retinal Degeneration,Hereditary Retinal Dystrophy,Fundus Dystrophy,Retinal Disease,Achromatopsia,Usher Syndrome, Type Iiia,Choroid Disease,Stargardt Disease,Macular Degeneration, Age-Related, 1,Cone-Rod Dystrophy 2,Retinitis,Retinitis Pigmentosa 38,La Crosse Encephalitis,Usher Syndrome,Vitelliform Macular Dystrophy,Cone Dystrophy,Choroideremia,Leber Congenital Amaurosis 1,Leber Congenital Amaurosis 2,Systemic Lupus Erythematosus,Retinoschisis 1, X-Linked, Juvenile

Spitzoid Melanoma,Melanoma In Congenital Melanocytic Nevus,Ventricular Septal Defect,Pancreatic Adenocarcinoma,Melanotic Neuroectodermal Tumor,Skin Melanoma,Gliomatosis Cerebri,Endometrial Cancer,Autosomal Dominant Polycystic Kidney Disease,Endosalpingiosis,Follicular Adenoma,Squamous Cell Carcinoma,Brain Stem Glioma,Thyroid Gland Cancer,Lung Cancer Susceptibility 3,Acral Lentiginous Melanoma,Metanephric Adenoma,Pulmonary Valve Stenosis,Primary Mediastinal B-Cell Lymphoma,Polycystic Kidney Disease,Suppression Of Tumorigenicity 12,Melanoma,Leukemia, Chronic Myeloid,Plasma Cell Neoplasm,Erdheim-Chester Disease,Thyroid Gland Anaplastic Carcinoma,Posterior Uveal Melanoma,Adenoma,Amelanotic Melanoma,Granulomatous Dermatitis,Acneiform Dermatitis,Juvenile Xanthogranuloma,Hypertrophic Cardiomyopathy,Childhood Pilocytic Astrocytoma,Rasopathy,Nonseminomatous Germ Cell Tumor,Desmoplastic Infantile Astrocytoma,Desmoplastic Infantile Ganglioglioma,Tall Cell Variant Papillary Carcinoma,Refractory Hairy Cell Leukemia,Refractory Hematologic Cancer,Costello Syndrome,Astroblastoma,Differentiated Thyroid Carcinoma,Eosinophilic Cystitis,Familial Colorectal Cancer,Leukemia,Colon Adenocarcinoma,Colonic Benign Neoplasm,Pilomyxoid Astrocytoma,Cerebellar Astrocytoma,Pilocytic Astrocytoma,Pleomorphic Xanthoastrocytoma,Pilocytic Astrocytoma Of Cerebellum,Diffuse Astrocytoma,Serrated Polyposis Syndrome,Pseudo-Turner Syndrome,Arteriovenous Malformations Of The Brain,Wilms Tumor 5,Glioma,Noonan Syndrome 1,Newborn Respiratory Distress Syndrome,Respiratory Distress Syndrome, Infant,Rhabdoid Meningioma,Noonan Syndrome And Noonan-Related Syndrome,Ganglioglioma,Neuronal Tumor,Desmoplastic Infantile Astrocytoma/Ganglioglioma,Papillary Tumor Of The Pineal Region,Dandy-Walker Syndrome,Struma Ovarii,Transitional Cell Carcinoma,Rosai-Dorfman Disease,Classic Hairy Cell Leukemia,Adenofibroma,Benign Struma Ovarii,Thyroid Carcinoma,Nodular Malignant Melanoma,Bladder Cancer,Thyroid Tumor,Brain Cancer,Spitz Nevus,Nodular Goiter,Testicular Germ Cell Tumor,Hairy Cell Leukemia,Lip Cancer,Syringocystadenoma Papilliferum,Lip And Oral Cavity Cancer,Mature Teratoma,Ovarian Cancer,Nevus Of Ota,Adenocarcinoma,Myopericytoma,Urachal Adenocarcinoma,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Malignant Astrocytoma,High Grade Glioma,Gliosarcoma,Giant Cell Glioblastoma,Juvenile Astrocytoma,Colorectal Cancer,Ovarian Serous Cystadenocarcinoma,Cystadenocarcinoma,Papillary Carcinoma,Serous Cystadenocarcinoma,Hepatocellular Carcinoma,Skin Squamous Cell Carcinoma,Skin Benign Neoplasm,Verrucous Papilloma,Cardiofaciocutaneous Syndrome 1,Tethered Spinal Cord Syndrome,Cardiomyopathy, Familial Hypertrophic, 4,Noonan Syndrome With Multiple Lentigines,Sarcoma,Hypothyroidism,Histiocytosis,Skin Carcinoma,Gastric Cancer,Prostate Cancer,Papillary Thyroid Microcarcinoma,Cholangiocarcinoma,Noonan Syndrome 7,Leopard Syndrome 3,Panniculitis,Adrenal Cortical Carcinoma,Ovary Adenocarcinoma,Gastric Adenocarcinoma,Nephrotic Syndrome, Type 3,Craniopharyngioma,Melphalan Allergy,Papillary Craniopharyngioma,Lynch Syndrome,Apocrine Adenoma,Lung Squamous Cell Carcinoma,Adrenal Carcinoma,Thyroid Gland Follicular Carcinoma,Langerhans Cell Histiocytosis,Thyroid Gland Papillary Carcinoma,Bladder Urothelial Carcinoma,Lymphoma, Non-Hodgkin, Familial,Renal Cell Carcinoma, Papillary, 1,Thyroid Cancer, Nonmedullary, 2,Thyroid Cancer, Nonmedullary, 1,Phace Association,Colorectal Cancer, Hereditary Nonpolyposis, Type 5,Hashimoto Thyroiditis,Gastrointestinal Stromal Tumor,Colorectal Adenocarcinoma,Villous Adenoma,Renal Cell Carcinoma, Nonpapillary,Mucosal Melanoma,Wilms Tumor 1,Hypertelorism,Lymphoma,Colitis,Lentigines,Leopard Syndrome 1,Leukemia, Chronic Lymphocytic,Juvenile Myelomonocytic Leukemia,Myeloma, Multiple,Melanoma, Cutaneous Malignant 1,Melanoma, Uveal,Lung Cancer,Pancreatic Cancer,Multiple Pterygium Syndrome, Escobar Variant,Pulmonic Stenosis