Hereditary Hemochromatosis Type 1 (HFE)
                                                Carrier
                                             
                                                                                                                                
                                                21-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMGCL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC1-Related (MCCC1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC2-Related (MCCC2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                3-Methylglutaconic Aciduria Type III also known as Costeff Optic Atrophy (OPA3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH-Related (PHGDH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Abetalipoproteinemia (MTTP)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Achromatopsia (CNGB3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Acrodermatitis Enteropathica (SLC39A4)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Acute Infantile Liver Failure (TRMU)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Acyl-CoA Oxidase I Deficiency (ACOX1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Adenosine Deaminase Deficiency (ADA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Adrenoleukodystrophy, X-Linked (ABCD1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Aicardi-Goutieres Syndrome (SAMHD1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Aldosterone Synthase Deficiency also known as Corticosterone Methyloxidase Deficiency (CYP11B2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alkaptonuria (HGD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alpha-1 Antitrypsin Deficiency (SERPINA1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alpha-Mannosidosis (MAN2B1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alpha-Thalassemia (HBA1/HBA2)
                                                No disease-causing mutations detected; normal hemoglobin analysis
                                             
                                                                                                                                
                                                Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked (ATRX)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alport Syndrome, COL4A3-Related (COL4A3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alport Syndrome, COL4A4-Related (COL4A4)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alport Syndrome, X-Linked (COL4A5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Alstrom Syndrome (ALMS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Andermann Syndrome (SLC12A6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Arginase Deficiency also known as Argininemia (ARG1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Argininosuccinic Aciduria (ASL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Aromatase Deficiency (CYP19A1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Asparagine Synthetase Deficiency (ASNS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Aspartylglucosaminuria (AGA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ataxia With Vitamin E Deficiency (TTPA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ataxia-Telangiectasia (ATM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bardet-Biedl Syndrome, BBS1-Related (BBS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bardet-Biedl Syndrome, BBS10-Related (BBS10)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bardet-Biedl Syndrome, BBS12-Related (BBS12)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bardet-Biedl Syndrome, BBS2-Related (BBS2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bartter Syndrome, Type 4A (BSND)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bernard-Soulier Syndrome, Type A1 (GP1BA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bernard-Soulier Syndrome, Type C (GP9)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Beta-Ketothiolase Deficiency (ACAT1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Beta-Thalassemia, Sickle Cell Disease, and Beta-Globin Disorders (HBB)
                                                No disease-causing mutations detected; normal hemoglobin analysis
                                             
                                                                                                                                
                                                Biotinidase Deficiency (BTD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Bloom Syndrome (BLM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Canavan Disease (ASPA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Carbamoylphosphate Synthetase I Deficiency (CPS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Carnitine Palmitoyltransferase II Deficiency (CPT2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Carpenter Syndrome (RAB23)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cartilage-Hair Hypoplasia (RMRP)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cerebral Creatine Deficiency Syndrome 1, X-Linked (SLC6A8)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cerebrotendinous Xanthomatosis (CYP27A1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome, X-Linked (PRPS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Charcot-Marie-Tooth Disease, X-Linked (GJB1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Choreoacanthocytosis (VPS13A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Choroidemia, X-Linked (CHM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Chromosome Analysis (Karyotype)
                                                Normal male karyotype
                                             
                                                                                                                                
                                                Chronic Granulomatous Disease, CYBA-Related (CYBA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Chronic Granulomatous Disease, CYBB-Related, X-Linked (CYBB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Citrin Deficiency (SLC25A13)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Citrullinemia Type 1 (ASS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cockayne Syndrome Type A (ERCC8)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cockayne Syndrome Type B (ERCC6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cohen Syndrome (VPS13B)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined Malonic and Methylmalonic Aciduria (ACSF3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined Oxidative Phosphorylation Deficiency 3 (TSFM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined Pituitary Hormone Deficiency 2 (PROP1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined Pituitary Hormone Deficiency 3 (LHX3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Combined SAP Deficiency (PSAP)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency (CYP11B1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Amegakaryocytic Thrombocytopenia (MPL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Disorder of Glycosylation Type 1a, PMM2-Related (PMM2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Disorder of Glycosylation Type 1b (MPI)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Disorder of Glycosylation, Type Ic (ALG6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Myasthenic Syndrome (CHRNE)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Myasthenic Syndrome (RAPSN)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Neutropenia (HAX1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Congenital Neutropenia, VPS45-Related (VPS45)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Corneal Dystrophy and Perceptive Deafness (SLC4A11)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cystic Fibrosis and Other CFTR-Related Disorders (CFTR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Cystinosis (CTNS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                D-Bifunctional Protein Deficiency (HSD17B4)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Deafness, Autosomal Recessive 77 (LOXHD1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Dyskeratosis Congenita, RTEL1-Related (RTEL1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Dystrophic Epidermolysis Bullosa (COL7A1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Dystrophinopathies, DMD-Related, X-Linked (DMD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ellis-Van Creveld Syndrome, EVC-Related (EVC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ellis-Van Creveld Syndrome, EVC2-Related (EVC2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Enhanced S-Cone Syndrome (NR2E3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ethylmalonic Encephalopathy (ETHE1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                F5-Related Disorders (F5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Fabry Disease, X-Linked (GLA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Factor IX Deficiency, X-Linked (F9)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Factor XI Deficiency (F11)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Dysautonomia (ELP1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Hypercholesterolemia (LDLR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Hypercholesterolemia (LDLRAP1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Hyperinsulinism and Other ABCC8-Related Disorders (ABCC8)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Hyperinsulinism and Other KCNJ11-Related Disorders (KCNJ11)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Familial Mediterranean Fever (MEFV)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Fanconi Anemia Type A (FANCA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Fanconi Anemia Type C (FANCC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Fanconi Anemia, Type G (FANCG)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                FKTN-Related Disorders including Walker-Warburg Syndrome (FKTN)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Fragile X Syndrome, X-Linked (FMR1)
                                                No disease-causing mutations detected; CGG repeat number within normal range
                                             
                                                                                                                                
                                                Fumarase Deficiency (FH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Galactokinase Deficiency (GALK1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Galactosemia, GALT-Related (GALT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Gaucher Disease (GBA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Gitelman Syndrome (SLC12A3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glutaric Acidemia Type 1 (GCDH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glutaric Acidemia, Type IIa (ETFA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glutaric Acidemia, Type IIc (ETFDH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycine Encephalopathy, AMT-Related (AMT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycine Encephalopathy, GLDC-Related (GLDC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease Type Ia (G6PC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease Type Ib (SLC37A4)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease Type III (AGL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease Type V (PYGM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease, Type IV also known as Adult Polyglucosan Body Disease (GBE1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Glycogen Storage Disease, Type VII (PFKM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                GRACILE Syndrome (BCS1L)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Guanidinoacetate Methyltransferase Deficiency also known as Cerebral Creatine Deficiency Syndrome 2 (GAMT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hemochromatosis, Type 3 (TFR2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hereditary Fructose Intolerance (ALDOB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hereditary Hemochromatosis (HJV)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hereditary Spastic Paraparesis 49 (TECPR2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hermansky-Pudlak Syndrome, Type 1 (HPS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hermansky-Pudlak Syndrome, Type 3 (HPS3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Holocarboxylase Synthetase Deficiency (HLCS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Homocystinuria (CBS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Homocystinuria due to MTHFR Deficiency (MTHFR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Homocystinuria, Cobalamin E Type (MTRR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hydrolethalus Syndrome (HYLS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Hypophosphatasia, Autosomal Recessive (ALPL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Inclusion Body Myopathy 2 (GNE)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Isovaleric Acidemia (IVD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Joubert Syndrome 2 (TMEM216)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Joubert Syndrome 7 also known as Meckel Syndrome 5 (RPGRIP1L)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Junctional Epidermolysis Bullosa (LAMA3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Junctional Epidermolysis Bullosa (LAMB3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Junctional Epidermolysis Bullosa (LAMC2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Juvenile Retinoschisis, X-Linked (RS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Krabbe Disease (GALC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leber Congenital Amaurosis 13 (RDH12)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leber Congenital Amaurosis 2 also known as Retinitis Pigmentosa 20 (RPE65)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leber Congenital Amaurosis 5 (LCA5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leber Congenital Amaurosis 8 also known as Retinitis Pigmentosa 12 (CRB1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Leigh Syndrome, French-Canadian Type (LRPPRC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Lethal Congenital Contracture Syndrome 1 (GLE1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2A also known as Calpainopathy (CAPN3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2B also known as Dysferlinopathy (DYSF)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2C also known as Gamma-Sarcoglycanopathy (SGCG)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2D also known as Alpha-Sarcoglycanopathy (SGCA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2E also known as Beta-Sarcoglycanopathy (SGCB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Limb-Girdle Muscular Dystrophy Type 2I (FKRP)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Lipoid Adrenal Hyperplasia (STAR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Lipoprotein Lipase Deficiency (LPL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Lysinuric Protein Intolerance (SLC7A7)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Lysosomal Acid Lipase Deficiency including Wolman Disease and Cholesteryl Ester Storage Disease (LIPA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Major Histocompatibility Complex Class II Deficiency also known as Bare Lymphocyte Syndrome Type II (CIITA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Maple Syrup Urine Disease Type 1A (BCKDHA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Maple Syrup Urine Disease Type 1B (BCKDHB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Maple Syrup Urine Disease Type 2 (DBT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Maple Syrup Urine Disease Type 3 also known as Dihyrolipoamide Dehydrogenase Deficiency (DLD)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Megalencephalic Leukoencephalopathy With Subcortical Cysts Type 1 (MLC1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Menkes Disease and Other ATP7A-Related Disorders, X-Linked (ATP7A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Merosin-Deficient Muscular Dystrophy (LAMA2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Metachromatic Leukodystrophy (ARSA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Methylmalonic Acidemia (MMAA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Methylmalonic Acidemia (MMAB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Methylmalonic Acidemia (MUT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Microphthalmia and Anophthalmia (VSX2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial Complex I Deficiency (ACAD9)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial Complex I Deficiency 16 (NDUFAF5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial Complex I Deficiency, NDUFS6-Related (NDUFS6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial DNA Depletion Syndrome 6 also known as Navajo Neurohepatopathy (MPV17)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mitochondrial Neurogastrointestinal Encephalopathy Disease (TYMP)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                MKS1-Related Disorders, including Bardet-Biedl Syndrome 13, Joubert Syndrome 28, and Meckel Syndrome 1 (MKS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucolipidosis II and IIIA (GNPTAB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucolipidosis III Gamma (GNPTG)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucolipidosis Type IV (MCOLN1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type I also known as Hurler Syndrome (IDUA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type II also known as Hunter Syndrome, X-Linked (IDS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type IIIA also known as Sanfilippo A Syndrome (SGSH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type IIIB also known as Sanfilippo B Syndrome (NAGLU)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type IIIC also known as Sanfilippo C Syndrome (HGSNAT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type IIID (GNS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type IVb also known as GM1 Gangliosidosis (GLB1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosis Type VI (ARSB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Mucopolysaccharidosistype IX (HYAL1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Multiple Sulphatase Deficiency (SUMF1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Muscle-Eye-Brain Disease (POMGNT1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Myotubular Myopathy, X-Linked (MTM1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                N-Acetylglutamate Synthase Deficiency (NAGS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Nemaline Myopathy 2 (NEB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Nephrogenic Diabetes Insipidus, Type II (AQP2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Nephrotic Syndrome, NPHS1-Related also known as Congenital Finnish Nephrosis (NPHS1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Nephrotic Syndrome, NPHS2-Related also known as Steroid-Resistant Nephrotic Syndrome (NPHS2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, CLN3-Related (CLN3)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, CLN5-Related (CLN5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, CLN6-Related (CLN6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, CLN8-Related also known as Northern Epilepsy (CLN8)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, MFSD8-Related (MFSD8)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, PPT1-Related (PPT1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Neuronal Ceroid-Lipofuscinosis, TPP1-Related (TPP1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Niemann-Pick Disease Type A/B (SMPD1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Niemann-Pick Disease Type C, NPC1-Related (NPC1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Niemann-Pick Disease Type C, NPC2-Related (NPC2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Nijmegen Breakage Syndrome (NBN)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Odonto-Onycho-Dermal Dysplasia also known as Schopf-Schulz-Passarge Syndrome (WNT10A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Omenn Syndrome and Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Omenn Syndrome, RAG2-Related (RAG2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ornithine Aminotransferase Deficiency (OAT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Ornithine Transcarbamylase Deficiency, X-Linked (OTC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Osteochondrodysplasias, Sulfate Transporter-Related (SLC26A2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Osteopetrosis Type 1 (TCIRG1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pendred Syndrome (SLC26A4)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Peroxisome Biogenesis Disorder, Type 3 (PEX12)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Phenylalanine Hydroxylase Deficiency also known as Phenylketonuria (PAH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Polyglandular Autoimmune Syndrome Type 1 (AIRE)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Polymicrogyria (ADGRG1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pompe Disease also known as Glycogen Storage Disease Type II (GAA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pontocerebellar Hypoplasia Type 1A (VRK1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pontocerebellar Hypoplasia Type 6 (RARS2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Postnatal Progressive Microcephaly also known as Infantile Cerebral and Cerebellar Atrophy (MED17)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Carnitine Deficiency (SLC22A5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Ciliary Dyskinesia, DNAH5-Related (DNAH5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Ciliary Dyskinesia, DNAI1-Related (DNAI1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Ciliary Dyskinesia, DNAI2-Related (DNAI2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Hyperoxaluria Type 1 (AGXT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Hyperoxaluria Type 2 (GRHPR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Primary Hyperoxaluria, Type 3 (HOGA1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Progressive Cerebello-Cerebral Atrophy (SEPSECS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Progressive Familial Intrahepatic Cholestasis Type 2 (ABCB11)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Propionic Acidemia, PCCA-Related (PCCA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Propionic Acidemia, PCCB-Related (PCCB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Prothrombin-Related Thrombophilia (F2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pycnodysostosis (CTSK)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pyruvate Carboxylase Deficiency (PC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pyruvate Dehydrogenase E1-Alpha Deficiency, X-Linked (PDHA1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Renal Tubular Acidosis and Deafness (ATP6V1B1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Retinitis Pigmentosa 25 (EYS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Retinitis Pigmentosa 26 (CERKL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Retinitis Pigmentosa 28 (FAM161A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Retinitis Pigmentosa 59 (DHDDS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Rhizomelic Chondrodysplasia Punctata Type 3 (AGPS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Roberts Syndrome (ESCO2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Salla Disease (SLC17A5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Sandhoff Disease (HEXB)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Schimke Immunoosseous Dysplasia (SMARCAL1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Severe Combined Immunodeficiency, X-Linked (IL2RG)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Sjogren-Larsson Syndrome (ALDH3A2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Smith-Lemli-Opitz Syndrome (DHCR7)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive (SACS)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Spastic Paraplegia, Type 15 (ZFYVE26)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Spinal Muscular Atrophy (SMN1)
                                                No disease-causing mutations detected (2 copies detected)
                                             
                                                                                                                                
                                                Spondylothoracic Dysostosis (MESP2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Steel Syndrome (COL27A1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Stuve-Wiedemann Syndrome (LIFR)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Tay-Sachs Disease also known as Hexosaminidase A Deficiency (HEXA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Tyrosine Hydroxylase Deficiency (TH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Tyrosinemia Type 1 (FAH)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Tyrosinemia, Type II (TAT)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type IB (MYO7A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type IC (USH1C)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type ID (CDH23)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type IF (PCDH15)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type IIA (USH2A)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Usher Syndrome Type IIIA (CLRN1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Vanishing White Matter Disease (EIF2B5)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Wilson Disease (ATP7B)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Xeroderma Pigmentosum, Group A (XPA)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Xeroderma Pigmentosum, Group C (XPC)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Zellweger Spectrum Disorder, PEX2-Related (PEX2)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Zellweger Spectrum Disorder, PEX6-Related (PEX6)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Zellweger Syndrome Spectrum (PEX1)
                                                No disease-causing variants detected
                                             
                                                                                                                                
                                                Zellweger Syndrome Spectrum, PEX10- Related (PEX10)
                                                No disease-causing variants detected