Hypertrophic Cardiomyopathy,Rasopathy,Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan Syndrome 8,Cardiofaciocutaneous Syndrome 1,Pheochromocytoma,Hypertelorism,Juvenile Myelomonocytic Leukemia,Charcot-Marie-Tooth Disease, X-Linked Recessive, 5,Angular Cheilitis

Mood Disorder,Cardiomyopathy, Familial Hypertrophic, 1

Carpenter Syndrome 1

Rectum Cancer,Rectum Adenocarcinoma,Ascending Colon Cancer,Cystic Fibrosis,Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter,Hypotrichosis 3

Cowden Syndrome,Cowden Syndrome 1,Subependymal Glioma,Benign Ependymoma,Hemimegalencephaly,Subependymal Giant Cell Astrocytoma,Kidney Angiomyolipoma,Tuberous Sclerosis 2,Tuberous Sclerosis,Colorectal Cancer,Kidney Benign Neoplasm,Spinal Cord Disease,Breast Adenocarcinoma,Disease Of Mental Health,Proteus Syndrome,Bladder Urothelial Carcinoma,Renal Cell Carcinoma, Papillary, 1,Tuberous Sclerosis 1,Renal Cell Carcinoma, Nonpapillary,Focal Cortical Dysplasia, Type Ii,Central Nervous System Benign Neoplasm

Bone Epithelioid Hemangioma,Leukocyte Adhesion Deficiency, Type Iii,Babesiosis,Cervical Non-Keratinizing Squamous Cell Carcinoma,Glanzmann Thrombasthenia,Osteoporosis,Tuberous Sclerosis,Breast Cancer,Meier-Gorlin Syndrome 1,Cerebral Cavernous Malformations,Leukocyte Adhesion Deficiency, Type I,Chronic Granulomatous Disease,Bleeding Disorder, Platelet-Type, 18,Klippel-Trenaunay-Weber Syndrome

Hypertensive Nephropathy,Skin Melanoma,Endometrial Cancer,Squamous Cell Carcinoma,Melanoma,Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom,Plexiform Neurofibroma,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Colorectal Cancer,Hepatocellular Carcinoma,Skin Squamous Cell Carcinoma,Chronic Granulomatous Disease,Mental Retardation, Autosomal Dominant 48,Fibrosarcoma,Tendinosis,Chlamydia,Hutchinson-Gilford Progeria Syndrome,Prostate Cancer,Disease Of Mental Health,Retinitis Pigmentosa 47,Lissencephaly,Wiskott-Aldrich Syndrome,Tangier Disease,Lung Cancer,Pancreatic Cancer

Non-Invasive Bladder Urothelial Carcinoma

Parkinson Disease, Late-Onset,Failure Of Tooth Eruption, Primary,Carpenter Syndrome 1,Warburg Micro Syndrome

Retinitis Pigmentosa,Sphingolipidosis,Bardet-Biedl Syndrome,Primary Ciliary Dyskinesia,Legionnaire Disease,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Joubert Syndrome 3,Nephronophthisis,Leber Plus Disease,Retinal Degeneration,Fundus Dystrophy,Parkinson Disease, Late-Onset,Open-Angle Glaucoma,Cone-Rod Dystrophy 2,Bardet-Biedl Syndrome 6,Bardet-Biedl Syndrome 8,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Fanconi Renotubular Syndrome 1,Asphyxiating Thoracic Dystrophy,Glaucoma, Primary Open Angle,Glaucoma, Normal Tension,Meckel Syndrome, Type 1,Carpenter Syndrome 1,Lowe Oculocerebrorenal Syndrome,Diarrhea 2, With Microvillus Atrophy,Autosomal Recessive Non-Syndromic Intellectual Disability,Congenital Diarrhea,Griscelli Syndrome,Bardet-Biedl Syndrome 3,Martsolf Syndrome,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Diabetes Mellitus,Noonan Syndrome 1,Benign Pleural Mesothelioma,Type 2 Diabetes Mellitus,Brugada Syndrome

Retinitis Pigmentosa,Leber Plus Disease,Fundus Dystrophy,Achromatopsia,Cone-Rod Dystrophy 18,Oguchi Disease 2,Cone-Rod Dystrophy 2,Retinitis Pigmentosa 39,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Neuropathy, Hereditary Motor And Sensory, Russe Type,Retinitis Pigmentosa 28,Cone-Rod Dystrophy 16,Vitreoretinochoroidopathy,Carpenter Syndrome 1,Oguchi Disease 1

Colorectal Cancer,Glutathionuria,Pancreatic Cancer

Vertebral Artery Insufficiency,Long Qt Syndrome,Mobitz Type Ii Atrioventricular Block,Mental Retardation, Autosomal Dominant 10,Acrofacial Dysostosis,Acrofacial Dysostosis 1, Nager Type