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

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

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

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

B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1

Non-Invasive Bladder Urothelial Carcinoma

Familial Renal Oncocytoma,Legionnaire Disease,Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome,Hypotrichosis 3,Birt-Hogg-Dube Syndrome,Lowe Oculocerebrorenal Syndrome,Warburg Micro Syndrome

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

Choroid Cancer,Carpenter Syndrome 1,Melanoma, Uveal

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

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

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

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

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

Carpenter Syndrome 1,Warburg Micro Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2e

Babesiosis,Cervical Keratinizing Squamous Cell Carcinoma,Cervical Non-Keratinizing Squamous Cell Carcinoma,Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency,Cerebral Cavernous Malformations,Cerebrocostomandibular Syndrome,Cerebral Cavernous Malformations 2

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

Carpenter Syndrome 1

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

Piebald Trait,Hermansky-Pudlak Syndrome,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,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