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

Progressive Familial Heart Block,Progressive Familial Heart Block, Type Ii

Mood Disorder,Cardiomyopathy, Familial Hypertrophic, 1

Retinitis Pigmentosa,Amyotrophic Lateral Sclerosis 1,Legionnaire Disease,Amyotrophic Lateral Sclerosis 8,Motor Neuron Disease,Tuberous Sclerosis 2,Charcot-Marie-Tooth Disease,Parkinson Disease, Late-Onset,Cataract 8, Multiple Types,Dent Disease 1,Rabies,Disease Of Mental Health,Hermansky-Pudlak Syndrome,Human Granulocytic Anaplasmosis,Human Monocytic Ehrlichiosis,Diamond-Blackfan Anemia 20,Choroideremia,Carpenter Syndrome 1,Lowe Oculocerebrorenal Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability 5,Niemann-Pick Disease, Type C1,Charcot-Marie-Tooth Disease, Axonal, Type 2b

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

Ovarian Cancer,Breast Cancer,Corneal Dystrophy, Posterior Polymorphous, 4

Cone-Rod Dystrophy 2

Retinitis Pigmentosa,Charcot-Marie-Tooth Disease, Type 4c,Fundus Dystrophy,Charcot-Marie-Tooth Disease,Parkinson Disease, Late-Onset,Tooth Disease,Disease Of Mental Health,Hermansky-Pudlak Syndrome,Barrett Esophagus,Carpenter Syndrome 1,Diarrhea 2, With Microvillus Atrophy,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Autosomal Dominant Non-Syndromic Intellectual Disability,Diarrhea 8, Secretory Sodium, Congenital,Congenital Diarrhea,Griscelli Syndrome,Joubert Syndrome 1

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

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

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

Retinitis Pigmentosa,Cohen Syndrome,Legionnaire Disease,Spinal Muscular Atrophy,Proximal Spinal Muscular Atrophy,Cutis Laxa, Autosomal Recessive, Type Ia,Cutis Laxa, Autosomal Recessive, Type Iia,Fundus Dystrophy,Geroderma Osteodysplasticum,Choroideremia,Carpenter Syndrome 1,Lowe Oculocerebrorenal Syndrome,Autosomal Recessive Cutis Laxa Type Ii Classic Type,Autosomal Recessive Cutis Laxa Type Iii

B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1

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

Carpenter Syndrome 1

Charcot-Marie-Tooth Disease, Type 4d,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Griscelli Syndrome

Choroid Cancer,Carpenter Syndrome 1,Melanoma, Uveal

Lymphangioleiomyomatosis,Acrocapitofemoral Dysplasia

Colorectal Cancer,Glutathionuria,Pancreatic Cancer

Spinocerebellar Ataxia, Autosomal Recessive 6,Rectum Adenocarcinoma,Legionnaire Disease,Legionellosis,Choroideremia

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

Non-Invasive Bladder Urothelial Carcinoma