Genetic testing in children and assessment of risk of disease

Abstract

The present disclosure is related, at least in part, to methods of screening subjects, such as pediatric subjects, for diseases and conditions. In some embodiments, the pediatric subjects are seemingly healthy subjects. In some embodiments, the method of assessing genetic predisposition to a set of diseases in a subject, comprises obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases described herein.

Description

[0001] GENETIC TESTING IN CHILDREN AND ASSESSMENT OF RISK OF DISEASE

[0002] RELATED APPLICATIONS

[0003] This application claims the benefit under 35 U.S.C. § 119(e) to U.S. Provisional Application No. 63 / 684,426, entitled “GENETIC TESTING IN CHILDREN AND ASSESSMENT OF RISK OF DISEASE”, filed on August 18, 2024, and U.S. Provisional Application No. 63 / 745,300, entitled “GENETIC TESTING IN CHILDREN AND ASSESSMENT OF RISK OF DISEASE”, filed on January 14, 2025; the entire contents of each of which are incorporated herein by reference.

[0004] FIELD

[0005] Routine newborn screenings (NBS) help prevent serious problems such as intellectual and developmental disability, illness, or death. Currently, NBS screen for a limited number of conditions (e.g., approximately 35-61 conditions) and are invasive, requiring a blood draw (typically using a heel stick). NBS generally are performed at 1-2 days of age and certain states conduct screenings at 7-14 days of age. There is a need to screen pediatric patients for more conditions, using non-invasive techniques to improve the number of children diagnosed with an actionable disease or condition. Currently, 2.6 million seemingly healthy children in the United States have an undiagnosed genetic condition that could be treated.

[0006] SUMMARY

[0007] Detection of diseases and interventions before symptoms have been shown to lead to improved outcomes. For example, detection of autism before symptoms leads to improved social interaction. Also, early detection and intervention of childhood cancer leads to reduced mortality rates by up to 50% by 20 years of age. The methods described herein can be used to screen pediatric subjects for numerous (e.g., hundreds of) diseases and conditions. The methods described herein can be used to diagnose approximately one hundred times the number of infants with an actionable condition annually compared to existing methods of NBS. The methods described herein can also be used to diagnose apparently healthy children and allow for earlier intervention (e.g., treatment, taking preventative steps, further surveillance or monitoring) for diseases that would otherwise go unnoticed or be diagnosed later in life. In some embodiments, sample collection is obtained from a subject. For example, a cheek swab is performed on a subject to obtain the sample. In some embodiments, the sample collection is performed using a sample collection kit. In some embodiments, the sample collection kit includes instructions to perform the sample collection. In some embodiments, genetic material is collected from the sample. In some embodiments, the genetic material is used to assess the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases.

[0008] In some embodiments, the set of diseases comprises any one or more, or all, of Adrenoleukodystrophy, Angelman syndrome-like, ANKRD11 -related disorder, Attention deficit hyperactivity disorder, Autism spectrum disorder, BH4-Deficient Hyperphenylalaninemia, Brugada syndrome, CHARGE syndrome, CHD5-related Neurodevel opmental disorder, Christianson syndrome, CSNK2A1 -related neurodevelopmental syndrome, DDX3X-related neurodevel opmental disorder, Dihydropyrimidine dehydrogenase deficiency, DYRKlA-r elated intellectual disability syndrome, Ehlers-Danlos syndrome spondylodysplastic type, Ehlers-Danlos syndrome, kyphoscoliotic type, Familial aortopathy, Gaucher Disease, Gorlin syndrome, HECW2- related neurodevelopmental disorder, Hereditary persistence of fetal hemoglobin, Hidrotic ectodermal dysplasia syndrome, HNRNPU-related developmental and epileptic encephalopathy, Houge-Janssens syndrome 2, Hypotonia, ataxia, and delayed development syndrome, KAT6A-related neurodevelopmental disorder with multiple anomalies, KMT5B- related neurodevelopmental disorder, Kleefstra syndrome, Lactose intolerance, Leigh syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Myofibrillar myopathy, PHGDH deficiency, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Primary ciliary dyskinesia, Primrose Syndrome, Prader-Willi Syndrome, PTEN hamartoma tumor syndrome, Pyridoxal phosphate-responsive seizures, Renal cysts and diabetes syndrome, Rhabdoid tumor predisposition syndrome, Rubinstein-Taybi syndrome, Schinzel-Giedion syndrome, SCN8A-related epilepsy, SHORT syndrome, SLC6A1 -related neurodevelopmental disorder, Spinal muscular atrophy, STXBP1 -related neurodevelopmental disorder, UNC13A-related Neurodevelopmental and Movement disorder, Zellweger spectrum disorders, and Zinc deficiency (e.g., transient neonatal zinc deficiency).

[0009] In some embodiments, the set of diseases comprises any one or more, or all, of the disease shown in Table 1, Table 2, Table 3, Table 4 or Table 5, or the Figures. In any one of the methods provided herein, the set of diseases comprise any 2, 3, 4, 5, 6, 7, 8, 9, 10, 15, 20, 25, 30, 35, 40, 45, 50 or more of the foregoing diseases. In any one of the methods provided herein, the set of diseases comprises all of the foregoing diseases.

[0010] In any one of the methods provided herein, the set of diseases comprise any one or more or combination of any of the diseases provided herein. In any one of the methods provided herein, the set of diseases comprise all of the diseases provided herein.

[0011] In any one of the methods provided herein, the genes tested for the set of diseases comprise any one or more, or any combination, of the relevant genes (for the set of diseases) provided herein. In any one of the methods provided herein, the genes tested for the set of diseases comprise all of the relevant genes provided herein. In some embodiments, the set of relevant genes comprises any one or more, or all, of the genes of Table 1, Table 2, Table 3, Table 4, or Table 5, or the Figures.

[0012] In any one of the methods provided herein, the genetic variants that are assessed for the set of diseases comprise any one or more, or any combination, of the relevant genetic variants provided herein. In any one of the methods provided herein, the genetic variants for the set of diseases comprise any one or more, or all, of the relevant genetic variants provided herein. In some embodiments, the set of relevant genetic variants comprises any one or more, or all, of the relevant genetic variants of the genes of Table 1, Table 2, Table 3, Table 4, or Table 5, or the Figures.

[0013] In any one of the methods provided herein the method further comprises taking an intervention step when the subject is determined to have a predisposition to one or more of the diseases provided herein. In one embodiment, the intervention step is a treatment step, administering or prescribing a therapeutic or treatment to treat the subject. In another embodiment, the intervention step is a preventative step, administering or suggesting that preventative steps be taken for the subject. In another embodiment, the intervention step is monitoring or putting the subject under surveillance for a period of time. Such monitoring or surveillance can include, but are not limited to, periodic further evaluations or testing of the subject. In one embodiment, a method of screening, such as with a method of screening as provided herein, is repeated. In another embodiment, the subject is evaluated or monitored for one or more symptoms. In another embodiment, the subject is evaluated with one or more other tests for the relevant disease. BRIEF DESCRIPTION OF DRAWINGS

[0014] FIG. 1 is an exemplary schematic of instructions provided in a kit for sample collection. The instructions include before swabbing and how to perform the cheek swab for parents, guardians, or adults administering the cheek swab to a subject.

[0015] FIGs. 2A-2D is an exemplary schematic of test results. A summary of the outcome of the genetic testing, next steps, and other information for a subject where retinoblastoma is identified is shown in FIG. 2A, and the conditions and genes tested are reported in FIGs. 2B- 2D.

[0016] DETAILED DESCRIPTION

[0017] The present disclosure provides, in some aspects, methods of assessing genetic predisposition (or risk) to a set of diseases in a subject comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases. In some embodiments, the methods described herein may be used to screen for genetic predispositions for autism and other developmental disabilities, attention- deficit / hyperactivity disorder (ADHD), childhood cancers, high cholesterol, sudden cardiac death, muscular dystrophy, seizure disorders, and adverse reactions to medications, and / or hundreds of other diseases or conditions. In some embodiments, detection of a disease or condition (or predisposition thereto) before symptoms can lead to improved outcomes. In some embodiments, the detection of a disease or condition (or predisposition thereto) is performed in healthy-appearing children (also referred to herein as apparently healthy children). In some embodiments of any one of the methods provided herein, a gene known to be associated with a disease refers to a gene identified as being more likely to have or have an increased risk of developing the disease. Similarly, a genetic variant refers to a variation in a gene that can be indicative of risk (e.g., increased or decreased risk) of developing the disease. Examples of genes and genetic variants associated with diseases may be found in Tables 1-5.

[0018] Predisposition and Diseases

[0019] In some embodiments, the present disclosure provides methods of assessing genetic predisposition (or risk) to a set of diseases. As described herein, the term “disease” refers to a pathophysiological response to external or internal factors. As described herein, the term “condition” refers to a state of health that interferes with the usual activities or feeling of well-being. As described herein, the term “syndrome” refers to a collection or set of signs and symptoms that characterize or suggest a particular disease. As described herein, the term “disorder” refers to a disruption of normal or regular functions in the body or a part of the body. The terms “disease”, “condition”, “syndrome”, or “disorder” may be used interchangeably.

[0020] In some embodiments, the disease can be diagnosed by a healthcare professional or a test. In some embodiments, the disease can be diagnosed by a healthcare professional and a test. In some embodiments, the disease can be diagnosed by a healthcare professional and / or a test. In some embodiments, the healthcare professional is a doctor, a nurse, a physician assistant, or a genetic counselor. In some embodiments, the test is a medical test, such as a test including any one of the methods provided herein. In some embodiments, the medical test is a medical procedure that can detect, diagnose, or monitor diseases, disease processes, or susceptibility.

[0021] In some embodiments, the disease can be treated, monitored, prevented, or improved in a symptom using an intervention or a therapeutic for the disease. In some embodiments, the terms “treat”, “treatment” or “treating” refers to both therapeutic and prophylactic treatments. If the subject is in need of treatment of a disease, “treating the condition” refers to ameliorating, reducing, or eliminating one or more symptoms associated with or preventing any further progression of the disease.

[0022] As described herein, the term “predisposition” refers to an increased likelihood of having or developing a disease. In some embodiments, a predisposition is a genetic predisposition. As described herein, the term “genetic predisposition” refers to an increased chance that a person has or will develop a disease based on their genetic makeup. Examples of genetic makeup include, but are not limited to, the genotype of an organism, an organism’s complete set of genes, or refer to alleles or variant forms of a gene that are carried by an organism.

[0023] The methods of screening provided can assess a subject’s predisposition to having or developing any one of the diseases provided herein. Examples of disease include, but are not limited to, 3-methylglutaconic aciduria (e.g., 3-Methylglutaconic aciduria type V), ACBD5- related retinal dystrophy and leukodystrophy spectrum disorder, Aceruloplasminemia, AC0X1 -related peroxisomal acyl-CoA oxidase deficiency, AC0X1 -related progressive myeloneuropathy with sensorineural hearing loss (AD), ACTB-related Baraitser-Winter syndrome, ACTB-Related Disorder, ACTG1 -related Baraitser-Winter syndrome, ACTL6B- related developmental and epileptic encephalopathy, ACTL6B-related neurodevelopmental disorder, Acute intermittent porphyria, ADNP-related neurodevelopmental disorder with multiple anomalies, ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy, Adrenoleukodystrophy, AHDC1 -related neurodevelopmental disorder, ALDH5 Al -related succinic semialdehyde dehydrogenase deficiency, alpha- 1 antitrypsin deficiency, AMT-related glycine encephalopathy, Angelman syndrome, ANKRD11 -related KBG syndrome, ANKRD11 -related disorder, Arginosuccinate lyase deficiency, ARID1B- related neurodevelopmental disorder, Arrhythmogenic right ventricular cardiomyopathy, ASHIL-related neurodevelopmental disorder with multiple anomalies, ASXL3-related neurodevelopmental disorder with multiple anomalies, Attention deficit hyperactivity disorder, AUTS2-related neurodevelopmental disorder, Autism spectrum disorder, Barth syndrome, BCL11 A-related neurodevelopmental disorder with persistence of fetal hemoglobin, BH4-Deficient Hyperphenylalaninemia, Biotinidase deficiency, Brugada syndrome, CASK-related neurodevelopmental disorder with multiple anomalies 160, Catecholaminergic polymorphic ventricular tachycardia, CDKL5-related developmental and epileptic encephalopathy, CHAMP 1 -related neurodevelopmental disorder, Charcot-Mari e- Tooth disease, CHARGE syndrome, CHD2-related developmental and epileptic encephalopathy, CHD3-related neurodevelopmental disorder, CHD5-related Neurodevelopmental disorder, CHD7-related CHARGE spectrum disorder, CHD8-related neurodevelopmental disorder, Christianson syndrome, CLPB-related caseinolytic peptidase B deficiency, CNOT3-related neurodevelopmental disorder, CREBBP-related neurodevelopmental disorder with multiple anomalies, CREBBP-related Rubinstein-Taybi syndrome, CSDEl-related neurodevelopmental disorder with ocular anomalies, CSNK2A1- related neurodevelopmental syndrome, CTBPl-related neurodevelopmental disorder, CTCF- related neurodevelopmental disorder with multiple anomalies, Cystathionine beta synthase deficiency, Danon disease, DDX3X-related neurodevelopmental disorder, DEAF 1 -related neurodevelopmental and movement disorder, Developmental and epileptic encephalopathy, DHCR7-related Smith-Lemli-Opitz syndrome, DHPS-related neurodevelopmental disorder, Diamond Blackfan syndrome, DICER 1 -related disorders, Disorders of the trifunctional protein complex, Dihydropyrimidine dehydrogenase deficiency, Dilated cardiomyopathy, Dilated cardiomyopathy (truncating variants only), Distal renal tubular acidosis, DLD-related dihydrolipoamide dehydrogenase deficiency, Dystonia, DYRK1 A-related neurodevelopmental disorder, EBF3-related neurodevelopmental disorder with multiple anomalies, Ehlers-Danlos syndrome (e.g., Ehlers-Danlos syndrome vascular type, Ehlers- Danlos syndrome spondylodysplastic type, Ehlers-Danlos syndrome, kyphoscoliotic type), EHMT1 -related Kleefstra syndrome, ETHE1 -related ethylmalonic encephalopathy, Fabry disease, Factor 7 deficiency, Familial adenomatous polyposis, Familial aortopathy, Familial hypercholesterolemia, Familial medullary thyroid cancer, Familial thoracic aortic aneurysm, Fanconi anemia, FOXGl-related Rett spectrum disorder, FOXPl-related neurodevelopmental disorder, FOXP3-related immunodysregulation, FOXP3-related polyendocrinopathy, and FOXP3-related enteropathy, Gaucher disease, GLDC-related glycine encephalopathy, Global Developmental Delay, Glucose 6 phosphate dehydrogenase deficiency, GLUT1 deficiency syndrome, Glycine encephalopathy with normal serum glycine, Gorlin syndrome, GRIN2B- related developmental and epileptic encephalopathy, GRIN2B-related neurodevelopmental disorder, Gyrate atrophy, HECW2-related neurodevelopmental disorder, Hereditary breast cancer, Hereditary hemochromatosis, Hereditary hemorrhagic telangiectasia, Hereditary paraganglioma-pheochromocytoma syndrome, Hereditary persistence of fetal hemoglobin, Hereditary transthyretin-related amyloidosis, Hidrotic ectodermal dysplasia syndrome, HIVEP2-related neurodevelopmental disorder, HNRNPH2-related neurodevelopmental disorder with multiple anomalies, HNRNPU-related developmental and epileptic encephalopathy, Houge-Janssens syndrome 2, HSD17B10-related 17-beta-hydroxysteroid dehydrogenase deficiency, Hyperprolinemia (e.g., Hyperprolinemia type I), Hypertrophic cardiomyopathy, Hypotonia, ataxia, and delayed development syndrome, Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic disease, Juvenile polyposis syndrome, KAT6A- related neurodevelopmental disorder with multiple anomalies, KIFlA-related neurodegenerative spectrum disorder, KMT5B-related neurodevelopmental disorder, Kleefstra syndrome, Krabbe disease, Lactose intolerance, Legius syndrome, Leigh syndrome, Li-Fraumeni syndrome, Loeys-Dietz syndrome, Long QT syndrome, Long-QT syndrome type 1, Long-QT syndrome type 2, Long-QT syndrome type 3, Lynch syndrome, Malignant hyperthermia, Marfan syndrome, Maturity-Onset of Diabetes of the Young, MBD5-related neurodevelopmental disorder, MECP2-related Rett spectrum disorder, MED13-related neurodevelopmental disorder with multiple anomalies, MED13L-related neurodevelopmental disorder with multiple anomalies, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Multiple acyl-CoA dehydrogenase deficiency, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 4, MUTYH-associated polyposis, Myofibrillar myopathy, Neurodevelopmental disorder with hypotonia, seizures, and absent language, Neurofibromatosis type 2, NFU1 -related multiple mitochondrial dysfunctions syndrome, Nonsyndromic hearing loss and deafness, Noonan syndrome, Okur-Chung neurodevel opmental syndrome, Ornithine transcarbamylase deficiency, PACS1 -related neurodevel opmental disorder with multiple anomalies, Peutz-Jeghers syndrome, PEX1- related Zellweger spectrum disorder, PEXIO-related Zellweger spectrum disorder, PEX12- related Zellweger spectrum disorder, PEX13-related Zellweger spectrum disorder, PEX14- related Zellweger spectrum disorder, PEX16-related Zellweger spectrum disorder, PEX19- related Zellweger spectrum disorder, PEX2 -related Zellweger spectrum disorder, PEX26- related Zellweger spectrum disorder, PEX3 -related Zellweger spectrum disorder, PEX5- related Zellweger spectrum disorder, PEX6-related Zellweger spectrum disorder, PHGDH deficiency, PHIP -related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Primary ciliary dyskinesia, Primrose syndrome, Pompe disease, PPP2RSD-related neurodevelopmental disorder with multiple anomalies, Prader-Willi Syndrome, PTEN hamartoma tumor syndrome, Pyridoxal phosphate-responsive seizures, Refsum disease, Renal cysts and diabetes syndrome, Retinoblastoma, Rhabdoid tumor predisposition syndrome, RPE65-related retinopathy, Rubinstein-Taybi syndrome, Schinzel- Giedion syndrome, SHORT syndrome, Shwachman-Diamond syndrome, SCNIA-related epilepsy, SCNIA-related familial hemiplegic migraine, SCN2A-related developmental and epileptic encephalopathy, SCN2A-related epilepsy, SCN8A-related epilepsy, SCN8A-related neurodevelopmental and movement disorder, SERAC 1 -related 3-methylglutaconic aciduria, SETBP 1 -related neurodevelopmental disorder, SETBP 1 -related Schinzel-Giedion syndrome, SLC6A1 -related neurodevelopmental disorder, SLC9A6-related Christianson spectrum disorder, Spinal muscular atrophy, STXBP1 -related neurodevelopmental disorder, SUCLA2- related mitochondrial DNA depletion syndrome, SUCLG1 -related mitochondrial DNA depletion syndrome, SYNGAP1 -related neurodevelopmental disorder, TRIO-related neurodevelopmental disorder, Tuberous sclerosis complex, Turner Syndrome, UNC I SA- related Neurodevelopmental and Movement disorder, USP9X-related neurodevelopmental disorder with multiple anomalies, Vasculitis due to ADA2 deficiency, Von Hippel-Lindau syndrome, von Willebrand disease, Wilson disease, Wisckott Adrich Syndrome, Wilms tumor, Zellweger spectrum disorders, Zinc deficiency (e.g., transient neonatal zinc deficiency), l ip partial monosomy syndrome, 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 -hydroxy-3 -methylglutaryl-CoA synthase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-Methylglutaconic aciduria, 3-methylglutaconic aciduria type 1, 3- Methylglutaconic aciduria type 2, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Abetalipoproteinaemia, Abnormal aortic valve morphology, Absent inner and outer dynein arms, Absent speech, Acetyl-CoA: carboxylase deficiency, Achondroplasia, AC0X1 -related disorder, Acrodysostosis 1 with or without hormone resistance, Acromicric dysplasia, ACTA2-related disorder, ACTB-related BAFopathy, ACTL6B-related BAFopathy, ACTL6B-related dominant intellectual disability, ACTL6B-related recessive epilepsy, ACVRL1 -related disorder, Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA oxidase deficiency, ADA2-related disorder, Adenylosuccinate lyase deficiency, ADSL- related disorder, Agammaglobulinemia 7, autosomal recessive, AKR1D1 -related disorder, ALDH5 Al -related disorder, Alpha Thalassemia, Alpha- 1 -antitrypsin deficiency, Alport syndrome, Alport syndrome type 2, Aminoacylase 1 deficiency, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, Angelman syndrome, Angelman syndrome-like, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 6, Aplastic anemia, Aplastic anemia, susceptibility to, APOB-related disorder, Arginase deficiency, Argininosuccinate lyase deficiency, Arrhythmogenic cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia, familial, 11, with or without mild palmoplantar keratoderma, Arrhythmogenic ventricular cardiomyopathy, Arthrogryposis multiplex congenita, ASL-related disorder, ASXL3-related disorder, ATTRV122I amyloidosis, Auditory neuropathy, Auditory neuropathy spectrum disorder, Auditory neuropathy, autosomal recessive, 1, Autism, Autism spectrum disorder due to AUTS2 deficiency, Autism, susceptibility to, X-linked 3, Autoimmune lymphoproliferative syndrome type 4, Autosomal dominant distal renal tubular acidosis, Autosomal dominant epilepsy, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 16, Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 2 A, Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 3 A, Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant optic atrophy classic form, Autosomal recessive DOPA responsive dystonia, Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 1 A, Autosomal recessive nonsyndromic hearing loss IB, Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 31, Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 48, Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive polycystic kidney disease, AUTS2-related disorder, B3GALT6-related disorder, BAG3- related disorder, Bannayan-Riley -Ruvalcaba syndrome, BAP 1 -related tumor predisposition syndrome, Baraitser-Winter syndrome, Baraitser-Winter syndrome 1, Basal cell nevus syndrome 1, Benign familial neonatal-infantile seizures 1, Benign neonatal seizures, Beta Thalassemia, Bilateral conductive hearing impairment, Bilateral sensorineural hearing impairment, Biotinidase deficiency, Birt-Hogg-Dube syndrome, BRIP1 -related disorder, Bronchiectasis, Bruck syndrome 1, Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome 1, BTD-related disorder, CABP2-related disorder, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 4, Cardiomyopathy, Cardiomyopathy and Deafness, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Cardiomyopathy, familial restrictive, 1, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, familial restrictive, 4, Cardiomyopathy, fatal, Carney complex, Carney complex, type 1, CARNEY COMPLEX, TYPE I, Carnitine acylcarnitine translocase deficiency, Carnitine palmitoyltransferase II deficiency, Carpal tunnel syndrome 1, CASK- related disorder, Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5, CBL-related disorder, CBS-related disorder, CCDC 103 -related disorder, CCDC39-related disorder, CCDC40-related disorder, CDH23-related disorder, CDKN1B- related disorder, CEBALID syndrome, Central core disease, autosomal recessive, Central core myopathy, Centronuclear myopathy, Cerebellar ataxia, Cerebellar ataxia, cataract, and diabetes mellitus, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Cerebral creatine deficiency syndrome, Cerebral folate transport deficiency, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type IE, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type IA, CHD7- related disorder, CHD8-related disorder, Childhood myocerebrohepatopathy spectrum, Childhood onset GLUT1 deficiency syndrome 2, Childhood onset hearing loss, Cholestanol storage disease, Cholesteryl ester storage disease, Choreoathetosis, Choroid plexus carcinoma, Chronic granulomatous disease, Ciliary dyskinesia, primary, 38, Ciliary dyskinesia, primary, 42, Ciliary dyskinesia, primary, 43, Ciliary dyskinesia, primary, 7, with situs inversus, Citrin deficiency, Citrullinemia type I, Classic congenital adrenal hyperplasia due to 21 -hydroxylase deficiency, Classic homocystinuria, CLDN14-related disorder, CLOVES syndrome, Cobalamin C disease, Coffin-Siris syndrome, Cognitive impairment with or without cerebellar ataxia, COLlA2-related disorder, COL3 Al -related disorder, Cold- induced sweating syndrome 1, Combined immunodeficiency due to DOCK8 deficiency, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Complex neurodevelopmental disorder, Conduction disorder of the heart, Conductive hearing impairment, Cone-rod dystrophy, Congenital adrenal hyperplasia, Congenital amegakaryocytic thrombocytopenia, Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 3, Congenital cerebellar hypoplasia, Congenital disorder of glycosylation, Congenital disorder of glycosylation, type Ibb, Congenital disorder of glycosylation, type IIw, Congenital factor VII deficiency, Congenital hyperammonemia, type I, Congenital hypothyroidism, Congenital lactase deficiency, Congenital long QT syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myasthenic syndrome 20, Congenital myopathy, Congenital myopathy 4A, autosomal dominant, Congenital myopathy with fiber type disproportion, Congenital nongoitrous hypothyroidism 6, Congenital sensorineural hearing impairment, Congenital smooth muscle hamartoma, Connective tissue dysplasia, Corticosterone methyloxidase type 2 deficiency, Cowden syndrome, Cowden syndrome 1, CP-related disorder, Craniofacial-deafness-hand syndrome, Craniopharyngioma, Craniosynostosis syndrome, CREBBP-related disorder, Crigler-Najjar syndrome, type II, CSNK2A1 -related disorder, Cutis laxa, X-linked, CYP7B1 -related disorder, Cystic fibrosis, Cystinosis, DDX3X-related disorder, Deafness, Deafness, digenic, GJB2 / GJB3, Deafness, digenic, GJB2 / GJB6, Deafness, sensorineural, with neurologic features, Deafness, without vestibular involvement, autosomal dominant, Deficiency of acetyl-CoA acetyltransferase, Deficiency of butyrylcholinesterase, Deficiency of ferroxidase, Deficiency of galactokinase, Deficiency of isobutyryl-CoA dehydrogenase, Dejerine-Sottas disease, Dejerine-Sottas syndrome, autosomal dominant, Delayed gross motor development, Delayed speech and language development, Dentinogenesis imperfecta, Depression, Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy, 6, Developmental and epileptic encephalopathy, 76, Developmental delay, Developmental disorder, Developmental malformations-deafness-dystonia syndrome, Diabetes, Diabetes mellitus, Diabetes mellitus type 1, Diabetes mellitus, noninsulin-dependent, maternally transmitted, Diabetes-deafness syndrome maternally transmitted, Diamond-Blackfan anemia, Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 9, Dias-Logan syndrome, DICER1- related disorder, DiGeorge syndrome, Dihydropteridine reductase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dilated cardiomyopathy 1 A, Dilated cardiomyopathy IBB, Dilated cardiomyopathy ID, Dilated cardiomyopathy 1DD, Dilated cardiomyopathy IE, Dilated cardiomyopathy IFF, Dilated cardiomyopathy 1HH, Dilated cardiomyopathy II, Dilated cardiomyopathy IKK, Dilated cardiomyopathy INN, Dilated cardiomyopathy 1R, Dilated cardiomyopathy IS, Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 3B, Dilated Cardiomyopathy, Dominant, Distal renal tubular acidosis, Dominant progressive sensorineural hearing loss, Drash syndrome, Early infantile epileptic encephalopathy with suppression bursts, Early onset epileptic encephalopathy, EBF3-related disorder, Ehlers-Danlos syndrome, arthrochalasia type, Ehlers- danlos syndrome, arthrochalasia type, 2, Ehlers-Danlos syndrome, cardiac valvular type, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1, Ehlers- Danlos syndrome, classic type, 2, Ehlers-Danlos syndrome, spondylodysplastic type, 2, Ehlers-Danlos syndrome, type 4, Embryonal rhabdomyosarcoma, Encephalopathy due to GLUT1 deficiency, Encephalopathy, neonatal severe Mental retardation, X-linked, syndromic 13Rett syndrome, Encephalopathy, porphyria-related, Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, ENG-related disorder, Epilepsy, Epilepsy of infancy with migrating focal seizures, Epilepsy, idiopathic generalized, susceptibility to, 12, Epilepsy, mitochondrial, Epileptic encephalopathy, Episodic ataxia type 1, Episodic ataxia, type 9, Ethylmalonic encephalopathy, Expressive language delay, F7- related disorder, Fabry disease, Fabry disease, cardiac variant, Factor I deficiency, Factor VII deficiency, Factor VII Padua, Familial adenomatous polyposis 1, Familial aortopathy, Familial cardiomyopathy, Familial hemiplegic migraine, Familial hemolytic anemia, Familial hemophagocytic lymphohistiocytosis 2, Familial hyperinsulinism, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial infantile myoclonic epilepsy, Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated dilated cardiomyopathy, Familial Mediterranean fever, Familial medullary thyroid carcinoma, Familial thoracic aortic aneurysm and aortic dissection, FANCA-related disorder, FANCC-related disorder, FANCG-related disorder, FANCI-related disorder, Fanconi anemia complementation group A, Fanconi anemia complementation group C, Fanconi anemia complementation group DI, Fanconi anemia complementation group G, Fanconi anemia complementation group I, Fanconi anemia complementation group J, Fanconi anemia complementation group N, Fatal multiple mitochondrial dysfunctions syndrome, FBN1- related disorder, Fetal akinesia deformation sequence 1, Fetal cystic hygroma, FG syndrome 4, FH Leiden 1, FH-related disorder, Fibromatosis, gingival, 1, FLCN-related disorder, FLG- related disorder, FLNC-related disorder, Focal cortical dysplasia, Focal epilepsy, Focal impaired awareness seizure, Focal-onset seizure, FOXPl-related disorder, Fragile X syndrome, Frasier syndrome, Fraxe, Fructose-biphosphatase deficiency, Fumarase deficiency, G6PD deficiency, G6PD deficient hemolytic anemia, G6PD-related disorder, Galactosemia, Galactosylceramide beta-galactosidase deficiency, Gastrointestinal stromal tumor, Gaucher disease type I, Geleophysic dysplasia, Geleophysic dysplasia 2, Generalized epilepsy, Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus, type 2, Generalized myoclonic seizure, GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss, GJB2-related disorder, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia 2, GLA-related disorder, GLDC-related disorder, Global developmental delay, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Glucocorticoid deficiency 1, Glucose-6-phosphate transport defect, GLUT1 deficiency syndrome 1, autosomal recessive, Glutaric acidemia Ila, Glutaric acidemia type 2C, Glutaric aciduria, type 1, Glycine encephalopathy 1, Glycine encephalopathy 2, Glycogen storage disease, Glycogen storage disease type 1 due to SLC37A4 mutation, Glycogen storage disease type III, Glycogen storage disease, type I, Glycogen storage disease, type II, Glycogen storage disease, type VI, GM1 gangliosidosis, Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, HADHA- related disorder, HADHB-related disorder, Haemorrhagic telangiectasia 1, Haemorrhagic telangiectasia 2, Hearing impairment, Hearing loss, Hearing loss, autosomal dominant 90, Hearing loss, autosomal recessive, Hearing loss, autosomal recessive 110, Hearing loss, autosomal recessive 57, Hearing loss, sensorineural, autosomal-mitochondrial type, HECW2- related disorder, Hemimegalencephaly, Hemoglobinopathy, Hemolytic anemia, Hemolytic anemia, G6PD deficient (favism), Hemorrhagic disease due to alpha- 1 -antitrypsin Pittsburgh mutation, Hepatic methionine adenosyltransferase deficiency, Hereditary acrodermatitis enteropathica, Hereditary amyloidosis, Hereditary factor VIII deficiency disease, Hereditary fructosuria, Hereditary hearing loss and deafness, Hereditary leiomyomatosis and renal cell cancer, Hereditary liability to pressure palsies, Hereditary palmoplantar keratoderma, Hereditary persistence of fetal hemoglobin, Hereditary pheochromocytoma-paraganglioma, Hereditary retinoblastoma, Hereditary spastic paraplegia, Hereditary spastic paraplegia 5A, Hereditary spherocytosis, Hereditary spherocytosis type 1, Hereditary spherocytosis type 4, Hereditary spherocytosis type 5, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hermansky-Pudlak syndrome 1, Heterotaxy, Hirschsprung disease, susceptibility to, 1, HIVEP2-related disorder, HMBS- related disorder, HNFlA-related disorder, HNFIB-related disorder, HNRNPU-related disorder, Hogue-Janssens syndrome 1, Holocarboxylase synthetase deficiency, Holoprosencephaly 7, Homocystinuria, Homocystinuria, pyridoxine-nonresponsive, Homocystinuria, pyridoxine-responsive, Homozygous familial hypercholesterolemia, Houge- Janssens syndrome 2, HSD10 mitochondrial disease, Hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, autosomal dominant, type B, Hypercholesterolemia, familial, 1, Hyperhomocysteinemia, Hyperhomocysteinemia, thrombotic, CBS-related, Hyper-IgM syndrome type 1, Hyperinsulinemic hypoglycemia, Hyperinsulinism due to HNF1A deficiency, Hyperinsulinism-hyperammonemia syndrome, Hyperlysinemia, Hyperornithinemia, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperphenylalaninemia, Hyperprolinemia type 2, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 11, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 8, Hyperuricemic nephropathy, familial juvenile type 3, Hypobetalipoproteinemia, Hypocalcemia, Hypophosphatasia, Ichthyosis, Ichthyosis, hystrix-like, with hearing loss, IFAP syndrome 1, with or without BRESHECK syndrome, ILDR1 -related disorder, Immunodeficiency 104, Immunodeficiency 18, Immunodeficiency 19, Inborn genetic diseases, Inborn mitochondrial myopathy, Infantile epilepsy syndrome, Infantile liver failure, Inherited bleeding disorder, platelet-type, Inherited glutathione synthetase deficiency, Inherited Immunodeficiency Diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Intellectual deficiency, Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with language impairment and autistic features, Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, Intellectual disability, Intellectual disability and seizures, Intellectual disability, autosomal dominant 15, Intellectual disability, autosomal dominant 16, Intellectual disability, autosomal dominant 29, Intellectual disability, autosomal dominant 43, Intellectual disability, autosomal dominant 5, Intellectual disability, autosomal dominant 51, Intellectual disability, autosomal dominant 57, Intellectual disability, CASK-related, X-linked, Intellectual disability, mild, Intellectual disability, severe, Intellectual disability, X-linked 102, Intellectual disability-severe speech delay-mild dysmorphism syndrome, Isolated focal cortical dysplasia type II, Isolated Noncompaction of the Ventricular Myocardium, Isolated Pierre-Robin syndrome, Isolated thoracic aortic aneurysm, Isovaleryl-CoA dehydrogenase deficiency, ITGA2B -related disorder, ITGB3-related disorder, Jervell and Lange-Nielsen syndrome 2, Junctional epidermolysis bullosa gravis of Herlitz, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Juvenile polyposis syndrome, Kabuki syndrome 1, Kabuki-like syndrome, Kartagener syndrome, KBG syndrome, KCNH2-related disorder, KCNQ4-related disorder, Kearns-Sayre syndrome, Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Keratosis palmoplantaris striata 2, King Denborough syndrome, Kleefstra syndrome, Kleefstra syndrome 1, Knuckle pads, deafness AND leukonychia syndrome, LCHAD deficiency with maternal acute fatty liver of pregnancy, LCT-related disorder, LDLR-related disorder, Leber congenital amaurosis, Leber optic atrophy, Leber optic atrophy and dystonia, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction 1, Left ventricular noncompaction 10, Left ventricular noncompaction 4, Left ventricular noncompaction 5, Left ventricular noncompaction 9, Left ventricular noncompaction cardiomyopathy, Leigh Syndrome (mtDNA mutation), Leigh syndrome due to mitochondrial complex I deficiency, Leigh syndrome, mitochondrial, LEOPARD syndrome 1, LEOPARD syndrome 2, Lethal acantholytic epidermolysis bullosa, Lethal congenital glycogen storage disease of heart, Leukoencephalopathy, porphyria-related, Lhermitte-Duclos disease, LHFPL 5 -related disorder, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Li-fraumeni-like syndrome, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 4, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long QT syndrome, Long QT syndrome 1, Long QT syndrome 1 / 2, digenic, Long QT syndrome 2, Long QT syndrome 3, Long QT syndrome 3 / 6, digenic, Long QT syndrome, bradycardia- induced, Loss of ambulation, LOX-related disorder, Lysinuric protein intolerance, Macrocephaly and epileptic encephalopathy, Macrocephaly-autism syndrome, Macrocephaly- intellectual disability-neurodevelopmental disorder-small thorax syndrome, Malignant hyperthermia of anesthesia, Malignant hyperthermia, susceptibility to, Malignant hyperthermia, susceptibility to, 1, Malignant migrating partial seizures of infancy, MAP2K2- related disorder, Maple syrup urine disease type 1 A, Maple syrup urine disease type IB, Maple syrup urine disease type 2, Marfan syndrome, Marfan syndrome, atypical, Marfan syndrome, autosomal recessive, Marfan syndrome, mild variable, Marfan Syndrome / Loeys- Dietz Syndrome / Familial Thoracic Aortic Aneurysms and Dissections, Marfanoid habitus and intellectual disability, MASS syndrome, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 3, Meacham syndrome, MECP2-related disorder, MED13L-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medullary thyroid carcinoma, Medulloblastoma, MEN2 phenotype: Unclassified, Menke-Hennekam syndrome, Menke- Hennekam syndrome 1, Menkes kinky -hair syndrome, MERRF syndrome, MERRF / MELAS overlap syndrome, Metachondromatosis, Metachromatic leukodystrophy, Metaphyseal chondrodysplasia, Methylcobalamin deficiency type cblG, Methylmalonic acidemia, Methylmalonic aciduria, Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblF, MHC class II deficiency, Migraine, familial hemiplegic, 3, Mild hyperphenylalaninemia, Mild non-PKU hyperphenylalanemia, Mismatch repair cancer syndrome 1, Mitochondrial cardiomyopathy with or without skeletal myopathy, Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1, Mitochondrial complex i deficiency, mitochondrial type 2, Mitochondrial complex i deficiency, mitochondrial type 3, Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial cytochrome c oxidase deficiency, Mitochondrial disease, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA- Associated Leigh Syndrome and NARP, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial non-syndromic sensorineural hearing loss, Mitochondrial skeletal myopathy, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy, MLH1 -related disorder, Moderate global developmental delay, Moderate intellectual deficiency, Monogenic diabetes, Moyamoya disease 5, MSH2-related disorder, MSH6-related disorder, MT-ATP6-related primary mitochondrial disease, MT-CYB associated Mitochondrial myopathy, MTOR-related megalencephaly and pigmentary mosaicism in skin, MT-TK-related disorder, MT-TK-related mitochondrial disorder, Mucopolysaccharidosis, Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 7, Multiminicore myopathy, Multiple acyl-CoA dehydrogenase deficiency, Multiple endocrine neoplasia, Multiple endocrine neoplasia II, Multiple endocrine neoplasia type 2, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia, type 1, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type IIA, with Hirschsprung disease, Multiple mitochondrial dysfunctions syndrome 1, Multisystemic smooth muscle dysfunction syndrome, Mutilating keratoderma, MYBPC3 -related cardiomyopathies, MYBPC3 -related disorder, MYH7-related disorder, MYH7-related skeletal myopathy, Myhre syndrome, MYL2-related disorder, MYO ISA-related disorder, MYO3A-related disorder, MYO6-related disorder, MYO7A-related disorder, Myoclonic encephalopathy, Myoclonic- astatic epilepsy, Myoclonic-atonic epilepsy, Myoclonus, familial, 2, Myofibrillar myopathy 5, Myofibrillar myopathy 6, Myofibromatosis, infantile, 1, Myofibromatosis, infantile, 2, Myoglobinuria, recurrent, Myopathy, lactic acidosis, and sideroblastic anemia 3, Myopathy, mitochondrial, with diabetes mellitus, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Myopathy, RYR1- associated, Myosin storage myopathy, Myotonic dystrophy-like myopathy, MYPN-related myopathy, NARP syndrome, NEED to be added, Neonatal Marfan syndrome, Nephrogenic diabetes insipidus, Nephrogenic syndrome of inappropriate antidiuresis, Neuroblastoma, Neurodegeneration with brain iron accumulation, Neurodevelopmental abnormality, Neurodevelopmental delay, Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia, seizures, and absent language, Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, Neurofibromatosis, type 1, Neurofibromatosis, type 2, Neuromuscular disease, Neuromuscular disease, congenital, with uniform type 1 fiber, Neutropenia, NFU1 -related disorder, Niemann-Pick disease, type A, Non-ketotic hyperglycinemia, Nonsyndromic Deafness, Nonsyndromic genetic hearing loss, Nonsyndromic sensorineural hearing loss, Noonan syndrome, Noonan syndrome 1, Noonan syndrome 3, Noonan syndrome 4, Noonan syndrome 5, Noonan syndrome 6, Noonan syndrome and Noonan-related syndrome, Noonan syndrome with multiple lentigines, NOTCH3-related disorder, NRAS-related disorder, Obesity, Ocular albinism, Oculocutaneous albinism type 4, ODAD2-related disorder, Okur-Chung neurodevelopmental syndrome, Ornithine aminotransferase deficiency, Ornithine carbamoyltransferase deficiency, Osteogenesis imperfecta, Osteogenesis imperfecta type 1, mild, Osteogenesis imperfecta type I, Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, mild, Osteogenesis imperfecta, perinatal lethal, Osteopetrosis, OTC-related disorder, OTOA-related disorder, OTOF-related disorder, OTOGL-related disorder, OTOG-related disorder, Overgrowth syndrome and / or cerebral malformations due to abnormalities in MTOR pathway genes, PAH-related disorder, PALB2-related disorder, Palmoplantar keratoderma-deafness syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Paragangliomas 1, Paragangliomas 2, Paragangliomas 3, Paragangliomas 4, PDZD7-related disorder, Pendred syndrome, Permanent neonatal diabetes mellitus, Peutz-Jeghers syndrome, Phenylketonuria, Phosphate transport defect, PHYH- related disorder, Phytanic acid storage disease, Pigmentary retinopathy, Pigmented nodular adrenocortical disease, primary, 1, PIK3R1 -related disorder, Pilomatrixoma, PKP2-related disorder, Pleomorphic xanthoastrocytoma, Pleuropulmonary blastoma, PLOD 1 -related disorder, POLG-related disorder, POLG-Related Spectrum Disorders, Polycystic kidney disease 2, Polymicrogyria, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria without vascular-type Ehlers-Danlos syndrome, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, PPP2R5D-related disorder, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 20, Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 9, Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Primary generalized epilepsy, Primary hyperoxaluria type 3, Primary hyperoxaluria, type I, Primrose syndrome, PRKAG2-related disorder, PRKAR1 A-related disorder, Progeroid and marfanoid aspect-lipodystrophy syndrome, Progressive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic, Progressive external ophthalmoplegia, proximal myopathy, and sudden death, Progressive familial heart block, type 1 A, Progressive sclerosing poliodystrophy, Progressive sensorineural hearing impairment, Progressive spastic paraparesis, Proline dehydrogenase deficiency, Prolonged QT interval, Propionic acidemia, PTCHI -related disorder, PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndromes, PTEN-related disorder, PTPN11 -related disorder, Pulmonary arterial hypertension, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary hypertension, primary, 1, Pulmonic stenosis, Pyridoxine-dependent epilepsy, Pyruvate dehydrogenase E3 deficiency, Pyruvate kinase deficiency of red cells, Qualitative or quantitative defects of beta-myosin heavy chain (MYH7), RAFI -related disorder, Rare genetic deafness, Rare genetic intellectual disability, RASopathy, RBI -related disorder, RBM20-related disorder, Refsum disease, adult, 1, Renal carnitine transport defect, Renal cysts and diabetes syndrome, Renal tubular acidosis, Renal tubular acidosis, distal, 4, with hemolytic anemia, Renal tubular dysgenesis, Restrictive cardiomyopathy, Retinal pigment epithelial atrophy, Retinitis pigmentosa, Retinitis pigmentosa 39, Retinitis pigmentosa-deafness syndrome, Retinoblastoma, RET- related disorder, Rett syndrome, Rett syndrome, zappella variant, Rhabdomyosarcoma, Rhabdomyosarcoma, embryonal, 2, Right ventricular cardiomyopathy, Roussy -Levy syndrome, RPE65-related recessive retinopathy, RPS19-related disorder, RSPH1 -related disorder, RSPH4A-related disorder, Rubinstein-Taybi syndrome due to CREBBP mutations, RUN X I -related disorder, RYR1 -related disorder, RYR1 -related myopathy, SBDS-related disorder, SCN1A Seizure Disorders, SCN1 A-related disorder, SCN2A-related disorder, SCN2A-related generalized epilepsy with febrile seizures plus, SCN5A-related disorder, SCN8A-related disorder, Seizures, benign familial infantile, 2, Sensorineural deafness with hypertrophic cardiomyopathy, Sensorineural hearing loss disorder, SERAC 1 -related disorder, SERPINA1 -related disorder, SETBP 1 -related disorder, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe global developmental delay, Severe myoclonic epilepsy in infancy, Severe neonatal-onset encephalopathy with microcephaly, Severe sensorineural hearing impairment, Short QT syndrome, Short QT syndrome type 1, Shwachman syndrome, Shwachman-Diamond syndrome 1, SLC22A5- related disorder, SLC2A1 -related disorder, SLC39A4-related disorder, SLC4A1 -related disorder, SLC6A1 -related disorder, SLC6A1 -related neurodevel opmental disorder, SMAD4- related disorder, SMARCA4-related BAFopathy, SMARCA4-related disorder, Smith-Lemli- Opitz syndrome, Smith-Magenis Syndrome-like, SOSl-related disorder, Spastic ataxia, Spastic paraplegia, Spinocerebellar ataxia 45, Spinocerebellar ataxia with epilepsy, Spondyloepimetaphyseal dysplasia with joint laxity, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures, Spondyloepimetaphyseal dysplasia with joint laxity, type

[0024] 1, with or without fractures, SPR-related disorder, Stiff skin syndrome, STRC-related disorder, Striatonigral degeneration, infantile, mitochondrial, STXBP1 -associated neurodevelopmental disorder, STXBP1 -related disorder, Succinate-semialdehyde dehydrogenase deficiency, Syndromic intellectual disability, Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Lubs type, Syndromic X-linked intellectual disability Najm type, Telangiectasia, hereditary hemorrhagic, type 1, Telangiectasia, hereditary hemorrhagic, type 2, TGFB2-related disorder, TGFBR2-related disorder, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Thyroid dyshormonogenesis 6, TMCl-related disorder, TNNI3- related disorder, TNNT2 -related cardiomyopathies, TNNT2-related disorder, TP53-related disorder, TPMl-related disorder, Transcobalamin II deficiency, Transposition of the great arteries, dextro-looped, Tricho-oculo-dermo-vertebral syndrome, Trilateral retinoblastoma, TRIOBP-related disorder, TRIO-related disorder, TSC1 -related disorder, TSC2-related disorder, Tuberous sclerosis 1, Tuberous sclerosis 2, Tuberous sclerosis syndrome, Type 1 diabetes mellitus 20, Type 2 diabetes mellitus, Tyrosinemia type I, Tyrosinemia type II, Tyrosinemia type III, UDPglucose-4-epimerase deficiency, Unclassified developmental and epileptic encephalopathy, Upshaw-Schulman syndrome, USH2A-related disorder, Usher syndrome, Usher syndrome type 1, Usher syndrome type IB, Usher syndrome type 1C, Usher syndrome type ID, Usher syndrome type 1G, Usher syndrome type 1J, Usher syndrome type

[0025] 2, Usher syndrome type 2A, Usher syndrome type 2C, Usher syndrome type 2D, Usher syndrome type 3 A, Usher syndrome, type IM, Usher syndrome, type ID / F, digenic, VACTERL with hydrocephalus, Vascular Malformations and Overgrowth, Vasculitis due to ADA2 deficiency, Vater association with macrocephaly and ventriculomegaly, Very long chain acyl-CoA dehydrogenase deficiency, Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets, type 1, Von Hippel -Lindau syndrome, Waardenburg syndrome, WAS-related disorder, Weill-Marchesani syndrome, Weill-Marchesani syndrome 2, dominant, West syndrome, WFSl-related disorder, WFSl-Related Spectrum Disorders, Wilms tumor 1, Wilson disease, Wiskott-Aldrich syndrome, attenuated, Wolff-Parkinson- White pattern, Wolff-Parkinson-White syndrome, childhood-onset, Wolfram syndrome, Wolfram syndrome 1, Woolly hair-skin fragility syndrome, WTl-related disorder, WT1- related Wilms tumor, Xeroderma pigmentosum, Xeroderma pigmentosum group A, X-linked agammaglobulinemia with growth hormone deficiency, X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked distal spinal muscular atrophy type 3, X-linked intellectual disability-hypotonia-movement disorder syndrome, X- linked intellectual disability-psychosis-macroorchidism syndrome, X-linked mixed hearing loss with perilymphatic gusher, X-linked severe combined immunodeficiency, X-linked severe congenital neutropenia, ZAP70-Related Severe Combined Immunodeficiency, and Zellweger spectrum disorders.

[0026] In some embodiments of any one of the methods provided herein, the set of diseases comprises one or more of Adrenoleukodystrophy, Angelman syndrome-like, ANKRD11- related disorder, Attention deficit hyperactivity disorder, Autism spectrum disorder, BH4- Deficient Hyperphenylalaninemia, Brugada syndrome, CHARGE syndrome, CHD5-related Neurodevel opmental disorder, Christianson syndrome, CSNK2A1 -related neurodevelopmental syndrome, DDX3X-related neurodevel opmental disorder, Dihydropyrimidine dehydrogenase deficiency, DYRKlA-r elated intellectual disability syndrome, Ehlers-Danlos syndrome spondylodysplastic type, Ehlers-Danlos syndrome, kyphoscoliotic type, Familial aortopathy, Gaucher Disease, Gorlin syndrome, HECW2- related neurodevelopmental disorder, Hereditary persistence of fetal hemoglobin, Hidrotic ectodermal dysplasia syndrome, HNRNPU-related developmental and epileptic encephalopathy, Houge-Janssens syndrome 2, Hypotonia, ataxia, and delayed development syndrome, KAT6A-related neurodevelopmental disorder with multiple anomalies, KMT5B- related neurodevelopmental disorder, Kleefstra syndrome, Lactose intolerance, Leigh syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Myofibrillar myopathy, PHGDH deficiency, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Primary ciliary dyskinesia, Primrose Syndrome, Prader-Willi Syndrome, PTEN hamartoma tumor syndrome, Pyridoxal phosphate-responsive seizures, Renal cysts and diabetes syndrome, Rhabdoid tumor predisposition syndrome, Rubinstein-Taybi syndrome, Schinzel-Giedion syndrome, SCN8A-related epilepsy, SHORT syndrome, SLC6A1 -related neurodevelopmental disorder, Spinal muscular atrophy, STXBP1 -related neurodevelopmental disorder, UNC13A-related Neurodevelopmental and Movement disorder, Zellweger spectrum disorders, and Zinc deficiency (e.g., transient neonatal zinc deficiency).

[0027] In some embodiments of any one of the methods provided herein, the set of diseases comprises one or more of 1 Ip partial monosomy syndrome; 3-methylglutaconic aciduria type 1; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; Abnormal aortic valve morphology; Absent inner and outer dynein arms; Absent speech; Achondroplasia; ACOXl-related disorder; Acrodysostosis 1 with or without hormone resistance; Acromicric dysplasia; ACTA2-related disorder; ACTB-related BAFopathy; ACTL6B-related BAFopathy; ACTL6B-related dominant intellectual disability; ACTL6B- related recessive epilepsy; ACVRL1 -related disorder; ADA2-related disorder; Adenylosuccinate lyase deficiency; ADSL-related disorder; Agammaglobulinemia 7, autosomal recessive; ALDH5 Al -related disorder; Aminoacylase 1 deficiency; Angelman syndrome; Aplastic anemia; Aplastic anemia, susceptibility to; APOB-related disorder; Arrhythmogenic cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 1; Arrhythmogenic right ventricular dysplasia 10; Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 5; Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular dysplasia, familial, 11, with or without mild palmoplantar keratoderma; Arrhythmogenic ventricular cardiomyopathy; Arthrogryposis multiplex congenita; ASL-related disorder; ATTRV122I amyloidosis; Auditory neuropathy; Auditory neuropathy spectrum disorder; Auditory neuropathy, autosomal recessive, 1; Autism spectrum disorder due to AUTS2 deficiency; Autism, susceptibility to, X-linked 3; Autoimmune lymphoproliferative syndrome type 4; Autosomal dominant distal renal tubular acidosis; Autosomal dominant epilepsy; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nocturnal frontal lobe epilepsy 5; Autosomal dominant nonsyndromic hearing loss 11; Autosomal dominant nonsyndromic hearing loss 12; Autosomal dominant nonsyndromic hearing loss 16; Autosomal dominant nonsyndromic hearing loss 22; Autosomal dominant nonsyndromic hearing loss 2 A; Autosomal dominant nonsyndromic hearing loss 36; Autosomal dominant nonsyndromic hearing loss 9; Autosomal recessive nonsyndromic hearing loss 104; Autosomal recessive nonsyndromic hearing loss 16; Autosomal recessive nonsyndromic hearing loss 18B; Autosomal recessive nonsyndromic hearing loss IB; Autosomal recessive nonsyndromic hearing loss 21; Autosomal recessive nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 24; Autosomal recessive nonsyndromic hearing loss 25; Autosomal recessive nonsyndromic hearing loss 29; Autosomal recessive nonsyndromic hearing loss 3; Autosomal recessive nonsyndromic hearing loss 30; Autosomal recessive nonsyndromic hearing loss 36; Autosomal recessive nonsyndromic hearing loss 37; Autosomal recessive nonsyndromic hearing loss 42; Autosomal recessive nonsyndromic hearing loss 48; Autosomal recessive nonsyndromic hearing loss 49; Autosomal recessive nonsyndromic hearing loss 59; Autosomal recessive nonsyndromic hearing loss 67; Autosomal recessive nonsyndromic hearing loss 68; Autosomal recessive nonsyndromic hearing loss 7; Autosomal recessive nonsyndromic hearing loss 84 A; Autosomal recessive nonsyndromic hearing loss 84B; Autosomal recessive nonsyndromic hearing loss 93; AUTS2-related disorder; BAG3-related disorder; Bannayan-Riley-Ruvalcaba syndrome; BAP 1 -related tumor predisposition syndrome; Baraitser-Winter syndrome 1; Beta Thalassemia; Bilateral conductive hearing impairment; Bilateral sensorineural hearing impairment; BRIP1 -related disorder; Bruck syndrome 1; Brugada syndrome (shorter-than- normal QT interval); Brugada syndrome 1; BTD-related disorder; CABP2-related disorder;

[0028] Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous syndrome 1; Cardiofaciocutaneous syndrome 4; Cardiomyopathy; Cardiomyopathy and Deafness; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis; Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, familial restrictive, 3; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, fatal; Carney complex, type 1; Carpal tunnel syndrome 1; CASK-related disorder; Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5; CBL-related disorder; CBS-related disorder;

[0029] CCDC 103 -related disorder; CCDC39-related disorder; CCDC40-related disorder; CDH23- related disorder; CDKN IB -related disorder; CEBALID syndrome; Central core disease, autosomal recessive; Central core myopathy; Centronuclear myopathy; Cerebellar ataxia; Cerebellar ataxia, cataract, and diabetes mellitus; Charcot-Marie-Tooth disease; Charcot- Marie-Tooth disease type IE; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1; Charcot-Marie-Tooth disease, type I; Charcot-Marie- Tooth disease, type IA; CHD7-related disorder; CHD8-related disorder; Childhood myocerebrohepatopathy spectrum; Childhood onset GLUT1 deficiency syndrome 2; Childhood onset hearing loss; Choroid plexus carcinoma; Ciliary dyskinesia, primary, 38; Ciliary dyskinesia, primary, 42; Ciliary dyskinesia, primary, 43; Ciliary dyskinesia, primary, 7, with situs inversus; Classic homocystinuria; CLDN14-related disorder; CLOVES syndrome; Coffin-Siris syndrome; Cognitive impairment with or without cerebellar ataxia; COL1 A2-related disorder; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Complex neurodevelopmental disorder; Conduction disorder of the heart; Conductive hearing impairment; Cone-rod dystrophy; Congenital bile acid synthesis defect 3; Congenital cerebellar hypoplasia; Congenital disorder of glycosylation; Congenital disorder of glycosylation, type IIw; Congenital factor VII deficiency; Congenital multicore myopathy with external ophthalmoplegia; Congenital myasthenic syndrome 20; Congenital myopathy; Congenital myopathy with fiber type disproportion; Congenital sensorineural hearing impairment; Congenital smooth muscle hamartoma; Connective tissue dysplasia; Cowden syndrome; Cowden syndrome 1; CP-related disorder; Craniopharyngioma; Craniosynostosis syndrome; CREBBP-related disorder; CSNK2A1 -related disorder; Deafness; Deafness, digenic, GJB2 / GJB3; Deafness, digenic, GJB2 / GJB6; Deafness, sensorineural, with neurologic features; Deafness, without vestibular involvement, autosomal dominant; Deficiency of butyrylcholinesterase; Dejerine- Sottas disease; Dejerine-Sottas syndrome, autosomal dominant; Delayed gross motor development; Delayed speech and language development; Dentinogenesis imperfecta; Depression; Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 11; Developmental and epileptic encephalopathy, 13; Developmental and epileptic encephalopathy, 30; Developmental and epileptic encephalopathy, 4; Developmental and epileptic encephalopathy, 54; Developmental and epileptic encephalopathy, 6; Developmental and epileptic encephalopathy, 76; Developmental malformations-deafness-dystonia syndrome; Diabetes mellitus; Diabetes mellitus type 1; Diabetes mellitus, noninsulin-dependent, maternally transmitted; Diabetes-deafness syndrome maternally transmitted; Diamond- Blackfan anemia 1; Diamond-Blackfan anemia 3; Diamond-Blackfan anemia 9; Dias-Logan syndrome; DiGeorge syndrome; Dilated cardiomyopathy IBB; Dilated cardiomyopathy ID; Dilated cardiomyopathy 1DD; Dilated cardiomyopathy IFF; Dilated cardiomyopathy 1HH; Dilated cardiomyopathy II; Dilated cardiomyopathy IKK; Dilated cardiomyopathy INN; Dilated cardiomyopathy 1R; Dilated cardiomyopathy IS; Dilated cardiomyopathy 1Y; Dilated cardiomyopathy 2A; Drash syndrome; EBF3-related disorder; Ehlers-Danlos syndrome, arthrochalasia type; Ehlers-danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2; Embryonal rhabdomyosarcoma; Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome; Encephalopathy, porphyria- related; Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis; ENG- related disorder; Epilepsy; Epilepsy of infancy with migrating focal seizures; Epilepsy, idiopathic generalized, susceptibility to, 12; Epilepsy, mitochondrial; Epileptic encephalopathy; Episodic ataxia, type 9; Expressive language delay; F7-related disorder; Fabry disease, cardiac variant; Factor VII Padua; Familial cardiomyopathy; Familial hemolytic anemia; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Familial isolated arrhythmogenic right ventricular dysplasia; Familial isolated dilated cardiomyopathy; FANCA-related disorder; FANCC-related disorder; FANCG-related disorder; FANCI-related disorder; Fanconi anemia complementation group A; Fanconi anemia complementation group C; Fanconi anemia complementation group DI; Fanconi anemia complementation group G; Fanconi anemia complementation group I; Fanconi anemia complementation group J; Fanconi anemia complementation group N; FBN1 -related disorder; Fetal akinesia deformation sequence 1; Fetal cystic hygroma; FG syndrome 4; FH Leiden 1; FH-related disorder; Fibromatosis, gingival, 1; FLCN-related disorder; FLG-related disorder; FLNC-related disorder; Focal cortical dysplasia; Focal impaired awareness seizure; Focal-onset seizure; FOXPl-related disorder; Frasier syndrome; Fraxe; Fumarase deficiency; G6PD deficiency; G6PD deficient hemolytic anemia; G6PD-related disorder; Gaucher disease type I; Geleophysic dysplasia; Geleophysic dysplasia 2; Generalized epilepsy; Generalized myoclonic seizure; GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss; GJB2-related disorder; GLA-related disorder; Glanzmann thrombasthenia 1;

[0030] Glanzmann thrombasthenia 2; GLDC-related disorder; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; GLUT1 deficiency syndrome 1, autosomal recessive; Glutaric aciduria, type 1; Glycine encephalopathy 2; Glycogen storage disease; Glycogen storage disease type 1 due to SLC37A4 mutation; Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia; HADHA-related disorder; HADHB-related disorder; Haemorrhagic telangiectasia 1; Haemorrhagic telangiectasia 2; Hearing impairment; Hearing loss; Hearing loss, autosomal dominant 90; Hearing loss, autosomal recessive; Hearing loss, autosomal recessive 110; Hearing loss, autosomal recessive 57; Hearing loss, sensorineural, autosomal-mitochondrial type; HECW2-related disorder;

[0031] Hemimegalencephaly; Hemolytic anemia, G6PD deficient (favism); Hemorrhagic disease due to alpha- 1 -antitrypsin Pittsburgh mutation; Hereditary factor VIII deficiency disease; Hereditary palmoplantar keratoderma; Hereditary retinoblastoma; Hereditary spastic paraplegia; Hereditary spastic paraplegia 5A; Hereditary spherocytosis type 4; Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Hirschsprung disease, susceptibility to, 1; HIVEP2-related disorder; HMBS-related disorder; HNFlA-related disorder; HNF IB-related disorder; HNRNPU-related disorder; Hogue-Janssens syndrome 1; Holoprosencephaly 7; Homocystinuria, pyridoxine- nonresponsive; Homocystinuria, pyridoxine-responsive; Homozygous familial hypercholesterolemia; HSD10 mitochondrial disease; Hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3; Hypercholesterolemia, autosomal dominant, type B; Hyperhomocysteinemia; Hyperinsulinism due to HNF1 A deficiency;

[0032] Hyperornithinemia; Hypertrophic cardiomyopathy 1; Hypertrophic cardiomyopathy 10;

[0033] Hypertrophic cardiomyopathy 11; Hypertrophic cardiomyopathy 2; Hypertrophic cardiomyopathy 26; Hypertrophic cardiomyopathy 3; Hypertrophic cardiomyopathy 4; Hypertrophic cardiomyopathy 6; Hypertrophic cardiomyopathy 7; Hypertrophic cardiomyopathy 8; Hyperuricemic nephropathy, familial juvenile type 3;

[0034] Hypobetalipoproteinemia; Ichthyosis, hystrix-like, with hearing loss; IFAP syndrome 1, with or without BRESHECK syndrome; ILDR1 -related disorder; Inborn mitochondrial myopathy; Infantile epilepsy syndrome; Inherited bleeding disorder, platelet-type; Inherited Immunodeficiency Diseases; Intellectual deficiency; Intellectual developmental disorder with autism and macrocephaly; Intellectual developmental disorder with language impairment and autistic features; Intellectual developmental disorder with severe speech and ambulation defects; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly;

[0035] Intellectual disability and seizures; Intellectual disability, autosomal dominant 15; Intellectual disability, autosomal dominant 16; Intellectual disability, autosomal dominant 29; Intellectual disability, autosomal dominant 43; Intellectual disability, autosomal dominant 51; Intellectual disability, autosomal dominant 57; Intellectual disability, CASK-related, X-linked;

[0036] Intellectual disability, mild; Intellectual disability, X-linked 102; Intellectual disability-severe speech delay-mild dysmorphism syndrome; Isolated focal cortical dysplasia type II; Isolated Noncompaction of the Ventricular Myocardium; Isolated Pierre-Robin syndrome; ITGA2B- related disorder; ITGB3-related disorder; Junctional epidermolysis bullosa gravis of Herlitz; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Kabuki syndrome 1;

[0037] Kabuki-like syndrome; Kartagener syndrome; KBG syndrome; KCNH2-related disorder;

[0038] KCNQ4-related disorder; Kearns-Sayre syndrome; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Keratosis palmoplantaris striata 2; King Denborough syndrome; Kleefstra syndrome 1; Knuckle pads, deafness AND leukonychia syndrome; LCHAD deficiency with maternal acute fatty liver of pregnancy; LDLR-related disorder; Leber congenital amaurosis; Leber optic atrophy; Leber optic atrophy and dystonia; Left ventricular hypertrophy; Left ventricular noncompaction 1; Left ventricular noncompaction 10; Left ventricular noncompaction 4; Left ventricular noncompaction 5; Left ventricular noncompaction 9; Left ventricular noncompaction cardiomyopathy; Leigh Syndrome (mtDNA mutation); Leigh syndrome due to mitochondrial complex I deficiency; Leigh syndrome, mitochondrial; LEOPARD syndrome 1; LEOPARD syndrome 2; Lethal acantholytic epidermolysis bullosa; Lethal congenital glycogen storage disease of heart; Leukoencephalopathy, porphyria-related; Lhermitte-Duclos disease; LHFPL5-related disorder; Li-Fraumeni syndrome 1; Li-fraumeni-like syndrome; Loeys-Dietz syndrome 1; Loeys-Dietz syndrome 2; Loeys-Dietz syndrome 4; Long QT syndrome 1; Long QT syndrome 1 / 2, digenic; Long QT syndrome 2; Long QT syndrome 3; Long QT syndrome 3 / 6, digenic; Long QT syndrome, bradycardia-induced; Loss of ambulation; LOX-related disorder; Macrocephaly and epileptic encephalopathy; Macrocephaly-autism syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Malignant hyperthermia of anesthesia; Malignant hyperthermia, susceptibility to; Malignant migrating partial seizures of infancy; MAP2K2-related disorder; Marfan syndrome, atypical; Marfan syndrome, autosomal recessive; Marfan syndrome, mild variable; Marfan Syndrome / Loeys-Dietz Syndrome / Familial Thoracic Aortic Aneurysms and Dissections; Marfanoid habitus and intellectual disability; MASS syndrome; Maturity onset diabetes mellitus in young; Maturity-onset diabetes of the young type 3; Meacham syndrome;

[0039] MECP2-related disorder; MED13L-related disorder; Medullary thyroid carcinoma; Medulloblastoma; MEN2 phenotype: Unclassified; Menke-Hennekam syndrome; Menke- Hennekam syndrome 1; MERRF syndrome; MERRF / MELAS overlap syndrome; Metachondromatosis; Metaphyseal chondrodysplasia; Mild hyperphenylalaninemia; Mild non-PKU hyperphenylalanemia; Mitochondrial cardiomyopathy with or without skeletal myopathy; Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1; Mitochondrial complex i deficiency, mitochondrial type 2; Mitochondrial complex i deficiency, mitochondrial type 3; Mitochondrial complex IV deficiency, nuclear type 1; Mitochondrial cytochrome c oxidase deficiency; Mitochondrial DNA depletion syndrome 1; Mitochondrial DNA depletion syndrome 4b; Mitochondrial DNA-Associated Leigh Syndrome and NARP; Mitochondrial encephalomyopathy; Mitochondrial encephalopathy; Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Mitochondrial non-syndromic sensorineural hearing loss; Mitochondrial skeletal myopathy; Mitochondrial trifunctional protein deficiency 1; Mitochondrial trifunctional protein deficiency 2; Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy; MLH1- related disorder; Moderate global developmental delay; Moderate intellectual deficiency; Moyamoya disease 5; MSH2 -related disorder; MSH6-related disorder; MT-ATP6-related primary mitochondrial disease; MT-CYB associated Mitochondrial myopathy; MT-TK- related disorder; MT-TK-related mitochondrial disorder; MTOR-related megalencephaly and pigmentary mosaicism in skin; Multiminicore myopathy; Multiple endocrine neoplasia;

[0040] Multiple endocrine neoplasia II; Multiple endocrine neoplasia, type 2; Multiple endocrine neoplasia, type IIA, with Hirschsprung disease; Multiple mitochondrial dysfunctions syndrome 1; Multisystemic smooth muscle dysfunction syndrome; Mutilating keratoderma; MYBPC3 -related cardiomyopathies; MYBPC3 -related disorder; MYH7-related disorder; MYH7-related skeletal myopathy; Myhre syndrome; MYL2-related disorder; MY015A- related disorder; MYO3A-related disorder; MYO6-related disorder; MYO7A-related disorder; Myoclonic encephalopathy; Myoclonic-astatic epilepsy; Myoclonic-atonic epilepsy; Myoclonus, familial, 2; Myofibrillar myopathy 5; Myofibrillar myopathy 6;

[0041] Myofibromatosis, infantile, 1; Myofibromatosis, infantile, 2; Myoglobinuria, recurrent; Myopathy, lactic acidosis, and sideroblastic anemia 3; Myopathy, mitochondrial, with diabetes mellitus; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Myopathy, myosin storage, autosomal recessive; Myopathy, RYR1 -associated; Myosin storage myopathy; Myotonic dystrophy-like myopathy; MYPN-related myopathy; NARP syndrome; Neonatal Marfan syndrome; Neuroblastoma; Neurodegeneration with brain iron accumulation; Neurodevelopmental abnormality; Neurodevelopmental delay;

[0042] Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies; Neuromuscular disease; Neuromuscular disease, congenital, with uniform type 1 fiber;

[0043] NFU1 -related disorder; Non-ketotic hyperglycinemia; Nonsyndromic Deafness;

[0044] Nonsyndromic sensorineural hearing loss; Noonan syndrome 1; Noonan syndrome 3; Noonan syndrome 4; Noonan syndrome 5; Noonan syndrome 6; Noonan syndrome and Noonan- related syndrome; N0TCH3 -related disorder; NRAS-related disorder; Obesity; 0DAD2- related disorder; Osteogenesis imperfecta; Osteogenesis imperfecta type I; Osteogenesis imperfecta type III; Osteogenesis imperfecta with normal sclerae, dominant form;

[0045] Osteogenesis imperfecta, mild; Osteogenesis imperfecta, perinatal lethal; OTC-related disorder; OTOA-related disorder; OTOF-related disorder; OTOG-related disorder; OTOGL- related disorder; PAH-related disorder; PALB2-related disorder; Palmoplantar keratoderma- deafness syndrome; PDZD7-related disorder; Phosphate transport defect; PHYH-related disorder; Pigmentary retinopathy; Pigmented nodular adrenocortical disease, primary, 1; PIK3R1 -related disorder; PKP2-related disorder; Pleomorphic xanthoastrocytoma;

[0046] Pleuropulmonary blastoma; PLOD 1 -related disorder; POLG-related disorder; POLG-Related Spectrum Disorders; Polymicrogyria; Polymicrogyria with or without vascular-type Ehlers- Danlos syndrome; Polymicrogyria without vascular-type Ehlers-Danlos syndrome; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; PPP2R5D-related disorder; Primary ciliary dyskinesia 11; Primary ciliary dyskinesia 14; Primary ciliary dyskinesia 15; Primary ciliary dyskinesia 17; Primary ciliary dyskinesia 2; Primary ciliary dyskinesia 20; Primary ciliary dyskinesia 23; Primary ciliary dyskinesia 24; Primary ciliary dyskinesia 28; Primary ciliary dyskinesia 29; Primary ciliary dyskinesia 3; Primary ciliary dyskinesia 5; Primary ciliary dyskinesia 7; Primary ciliary dyskinesia 9; Primary dilated cardiomyopathy; Primary familial dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy; Primary generalized epilepsy; PRKAG2-related disorder; PRKAR1 A- related disorder; Progeroid and marfanoid aspect-lipodystrophy syndrome; Progressive cerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic; Progressive external ophthalmoplegia, proximal myopathy, and sudden death; Progressive familial heart block, type 1A; Progressive sclerosing poliodystrophy; Progressive sensorineural hearing impairment; Progressive spastic paraparesis; Proline dehydrogenase deficiency; Prolonged QT interval; PTCHI -related disorder; PTEN hamartoma tumor syndromes; PTEN-related disorder; PTPN11 -related disorder; Pulmonary arterial hypertension; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia; Pulmonary hypertension, primary, 1; Pulmonic stenosis; Qualitative or quantitative defects of beta-myosin heavy chain (MYH7); RAF1- related disorder; Rare genetic deafness; Rare genetic intellectual disability; RBI -related disorder; RBM20-related disorder; Refsum disease, adult, 1; Renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Renal tubular dysgenesis; Restrictive cardiomyopathy; RET-related disorder; Retinal pigment epithelial atrophy; Retinitis pigmentosa; Retinitis pigmentosa 39; Retinitis pigmentosa-deafness syndrome; Rett syndrome, zappella variant; Rhabdomyosarcoma; Rhabdomyosarcoma, embryonal, 2; Right ventricular cardiomyopathy; RPS19-related disorder; RSPH1 -related disorder; RSPH4A- related disorder; Rubinstein-Taybi syndrome due to CREBBP mutations; RUNX1 -related disorder; RYRl-related disorder; RYRl-related myopathy; SBDS-related disorder; SCN1A Seizure Disorders; SCNIA-related disorder; SCN2A-related disorder; SCN2A-related generalized epilepsy with febrile seizures plus; SCN5A-related disorder; SCN8A-related disorder; Sensorineural deafness with hypertrophic cardiomyopathy; Sensorineural hearing loss disorder; SERAC 1 -related disorder; SERPINA1 -related disorder; SETBP 1 -related disorder; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome; Severe myoclonic epilepsy in infancy; Short QT syndrome; Short QT syndrome type 1; Shwachman syndrome; SLC22A5-related disorder; SLC39A4-related disorder; SLC4A1 -related disorder; SLC6A1 -related disorder; SMAD4-related disorder; SMARC Ad- related BAFopathy; SMARCA4-related disorder; Smith-Magenis Syndrome-like; SOS1- related disorder; Spastic ataxia; Spinocerebellar ataxia 45; Spinocerebellar ataxia with epilepsy; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Stiff skin syndrome; STRC -related disorder; Striatonigral degeneration, infantile, mitochondrial; STXBP1 -associated neurodevel opmental disorder; STXBP1 -related disorder; Syndromic intellectual disability; Syndromic X-linked intellectual disability Claes-Jensen type; Syndromic X-linked intellectual disability Lubs type; Syndromic X-linked intellectual disability Najm type; Telangiectasia, hereditary hemorrhagic, type 1; TGFB2-related disorder; TGFBR2-related disorder; THOC6-related developmental delay-microcephaly- facial dysmorphism syndrome; TMCl-related disorder; TNNI3-related disorder; TNNT2 - related cardiomyopathies; TNNT2-related disorder; TP53-related disorder; TPMl-related disorder; Transposition of the great arteries, dextro-looped; Tricho-oculo-dermo-vertebral syndrome; Trilateral retinoblastoma; TRIO-related disorder; TRIOBP-related disorder;

[0047] TSC1 -related disorder; TSC2-related disorder; Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Unclassified developmental and epileptic encephalopathy; USH2A-related disorder; Usher syndrome type 1; Usher syndrome type IB; Usher syndrome type 1J; Usher syndrome type 2; Usher syndrome type 2C; Usher syndrome type 3 A; Usher syndrome, type IM; Usher syndrome, type ID / F, digenic; VACTERL with hydrocephalus; Vascular Malformations and Overgrowth; Vater association with macrocephaly and ventriculomegaly; Weill-Marchesani syndrome; Weill-Marchesani syndrome 2, dominant; West syndrome; Wiskott-Aldrich syndrome, attenuated; Wolff-Parkinson-White pattern; Wolff-Parkinson-White syndrome, childhood-onset; Woolly hair-skin fragility syndrome; WTl-related disorder; X-linked intellectual disability-hypotonia-movement disorder syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; X-linked mixed hearing loss with perilymphatic gusher; and X-linked severe congenital neutropenia.

[0048] In some embodiments of any one of the methods provided herein, the set of diseases comprises one or more of ACTB-related Baraitser-Winter syndrome, ACTB-related disorder, ACTG1 -related Baraitser-Winter syndrome, ACTL6B-related developmental and epileptic encephalopathy, ACTL6B-related neurodevelopmental disorder, ADNP -related neurodevelopmental disorder with multiple anomalies, adrenoleukodystrophy, ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy, AHDC1 -related neurodevelopmental disorder, AMT-related glycine encephalopathy, Angelman syndrome, ANKRD1 1 -related disorder, ANKRD11 -related KBG syndrome, ARID IB -related neurodevelopmental disorder, ASHIL-related neurodevelopmental disorder with multiple anomalies, ASXL3-related neurodevelopmental disorder with multiple anomalies, ataxia, AUTS2-related neurodevelopmental disorder, BCLl lA-related neurodevelopmental disorder with persistence of fetal hemoglobin, CASK-related neurodevelopmental disorder with multiple anomalies, CDKL5-related developmental and epileptic encephalopathy, CHAMP1- related neurodevelopmental disorder, CHARGE syndrome, CHD2-related developmental and epileptic encephalopathy, CHD3-related neurodevelopmental disorder, CHD5-related neurodevelopmental disorder, CHD7-related CHARGE spectrum disorder, CHD8-related neurodevelopmental disorder, Christianson syndrome, CLPB-related caseinolytic peptidase B deficiency, CNOT3-related neurodevelopmental disorder, CREBBP-related neurodevelopmental disorder with multiple anomalies, CREBBP-related Rubinstein-Taybi syndrome, CSDEl-related neurodevelopmental disorder with ocular anomalies, CSNK2A1- related neurodevelopmental syndrome, CTBPl-related neurodevelopmental disorder, CTCF- related neurodevelopmental disorder with multiple anomalies, Danon disease, DDX3X- related neurodevelopmental disorder, DEAF 1 -related neurodevelopmental and movement disorder, DHCR7-related Smith-Lemli-Opitz syndrome, DHPS-related neurodevelopmental disorder, DYRKlA-r elated neurodevelopmental disorder, dystonia, EBF3-related neurodevelopmental disorder with multiple anomalies, EHMTl-related Kleefstra syndrome, ETHEl-related ethylmalonic encephalopathy, FOXGl-related Rett spectrum disorder, FOXPl-related neurodevelopmental disorder, GLDC-related glycine encephalopathy, global developmental delay, GLUT1 deficiency syndrome, glycine encephalopathy with normal serum glycine, GRIN2B-related developmental and epileptic encephalopathy, GRIN2B- related neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, HIVEP2-related neurodevelopmental disorder, HNRNPH2-related neurodevelopmental disorder with multiple anomalies, HNRNPU-related developmental and epileptic encephalopathy, Houge-Janssens syndrome 2, KAT6A-related neurodevelopmental disorder with multiple anomalies, KIFlA-related neurodegenerative spectrum disorder, Kleefstra syndrome, KMT5B-related neurodevelopmental disorder, Legius syndrome, Leigh syndrome, MBD5-related neurodevelopmental disorder, MECP2-related Rett spectrum disorder, MED13-related neurodevelopmental disorder with multiple anomalies, MED13L-related neurodevelopmental disorder with multiple anomalies, micrognathia-recurrent infections- behavioral abnormalities-mild intellectual disability syndrome, NFU1 -related multiple mitochondrial dysfunctions syndrome, Noonan syndrome, Okur-Chung neurodevelopmental syndrome, PACS1 -related neurodevelopmental disorder with multiple anomalies, PEX1-, PEX2-, PEX3-, PEX5-, PEX6-, PEX10-, PEX12-, PEX13-, PEX14-, PEX16-, PEX19-, and PEX26-related Zellweger spectrum disorders, PHIP -related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PPP2RSD-related neurodevelopmental disorder with multiple anomalies, Primrose syndrome, Rubinstein-Taybi syndrome, Schinzel- Giedion syndrome, SCNIA-related epilepsy, SCN2A-related developmental and epileptic encephalopathy, SCN2A-related epilepsy, SCN8A-related epilepsy, SCN8A-related neurodevelopmental and movement disorder, SETBP 1 -related neurodevelopmental disorder, SETBP 1 -related Schinzel-Giedion syndrome, SHORT syndrome, Shwachman-Diamond syndrome, SLC6A1 -related neurodevelopmental disorder, SLC9A6-related Christianson spectrum disorder, STXBP1 -related neurodevelopmental disorder, SUCLA2-related mitochondrial DNA depletion syndrome, SUCLG1 -related mitochondrial DNA depletion syndrome, SYNGAP1 -related neurodevelopmental disorder, TRIO-related neurodevelopmental disorder, tuberous sclerosis complex, UNC13A-related neurodevelopmental and movement disorder, USP9X-related neurodevelopmental disorder with multiple anomalies, Wiskott-Aldrich syndrome, and Zellweger spectrum disorders.

[0049] In some embodiments of any one of the methods provided herein, the set of diseases comprises one or more of 3-methylglutaconic aciduria (such as type V), ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder, aceruloplasminemia, AC0X1- related peroxisomal acyl-CoA oxidase deficiency, AC0X1 -related progressive myeloneuropathy with sensorineural hearing loss, acute intermittent porphyria, ALDH5A1- related succinic semialdehyde dehydrogenase deficiency, alpha- 1 antitrypsin deficiency, AMT-related glycine encephalopathy, argininosuccinate lyase deficiency, BH4-deficient hyperphenylalaninemia, biotinidase deficiency, Charcot-Marie-Tooth disease, cystathionine beta synthase deficiency, DHCR7-related Smith-Lemli-Opitz syndrome, Diamond-Blackfan syndrome, DICER 1 -related disorders, dihydropyrimidine dehydrogenase deficiency, disorders of the trifunctional protein complex, distal renal tubular acidosis, DLD-related dihydrolipoamide dehydrogenase deficiency, Fabry disease, factor VII deficiency, familial medullary thyroid cancer, Fanconi anemia, FOXP3-related immunodysregulation, Gaucher disease, GLDC-related glycine encephalopathy, glucose-6-phosphate dehydrogenase deficiency, GLUT1 deficiency syndrome, glycine encephalopathy with normal serum glycine, Gorlin syndrome, gyrate atrophy, hereditary hemorrhagic telangiectasia, hereditary persistence of fetal hemoglobin, hereditary transthyretin-related amyloidosis, HSD17B10- related 17-beta-hydroxysteroid dehydrogenase deficiency, hyperprolinemia (such as type I), isovaleryl-CoA dehydrogenase deficiency, Krabbe disease, Leigh syndrome, malignant hyperthermia, maturity-onset diabetes of the young, multiple acyl-CoA dehydrogenase deficiency, multiple endocrine neoplasia types 1, 2, 2A, 2B, and 4, MUTYH-associated polyposis, myofibrillar myopathy, neurofibromatosis type 2, nonsyndromic hearing loss and deafness, ornithine transcarbamylase deficiency, Peutz-Jeghers syndrome, PHGDH deficiency, Pompe disease, primary ciliary dyskinesia, PTEN hamartoma tumor syndrome, pyridoxal phosphate-responsive seizures, Refsum disease, renal cysts and diabetes syndrome, retinoblastoma, rhabdoid tumor predisposition syndrome, RPE65-related retinopathy, SERAC 1 -related 3-methylglutaconic aciduria, Shwachman-Diamond syndrome, vasculitis due to ADA2 deficiency, Von Hippel-Lindau syndrome, von Willebrand disease, Wilms tumor, Wilson disease, Wiskott-Aldrich syndrome, and zinc deficiency (such as transient neonatal zinc deficiency).

[0050] In some embodiments of any one of the methods provided herein, the set of diseases comprises one or more of arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, Ehlers-Danlos syndrome (such as the vascular type, spondylodysplastic type, and kyphoscoliotic type), familial aortopathy, familial hypercholesterolemia, familial thoracic aortic aneurysm, hypertrophic cardiomyopathy, Loeys-Dietz syndrome, long QT syndrome, long QT syndrome type 1, long QT syndrome type 2, long QT syndrome type 3, and Marfan syndrome.

[0051] In some embodiments of any one of the methods provided herein, a set of diseases, comprise one or more, any combination of, or all of the diseases provided herein, such as in Table 1, Table 2, Table 3, Table 4 or Table 5, or the Figures. In some embodiments of any one of the methods provided herein, a set of diseases comprises at least 1 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32,

[0052] 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57,

[0053] 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79, 80, 81, 82,

[0054] 83, 84, 85, 86, 87, 88, 89, 90, 91, 92, 93, 94, 95, 96, 97, 98, 99, 100, 101, 102, 103, 104, 105,

[0055] 106, 107, 108, 109, 110, 111, 112, 113, 114, 115, 116, 117, 118, 119, 120, 121, 122, 123,

[0056] 124, 125, 126, 127, 128, 129, 130, 131, 132, 133, 134, 135, 136, 137, 138, 139, 140, 141,

[0057] 142, 143, 144, 145, 146, 147, 148, 149, 150, 151, 152, 153, 154, 155, 156, 157, 158, 159,

[0058] 160, 161, 162, 163, 164, 165, 166, 167, 168, 169, 170, 171, 172, 173, 174, 175, 176, 177, 178, 179, 180, 181, 182, 183, 184, 185, 186, 187, 188, 189, 190, 191, 192, 193, 194, 195,

[0059] 196, 197, 198, 199, 200, 201, 202, 203, 204, 205, 206, 207, 208, 209, 210, 211, 212, 213,

[0060] 214, 215, 216, 217, 218, 219, 220, 221, 222, 223, 224, 225, 226, 227, 228, 229, 230, 231,

[0061] 232, 233, 234, 235, 236, 237, 238, 239, 240, 241, 242, 243, 244, 245, 246, 247, 248, 249,

[0062] 250, 251, 252, 253, 254, 255, 256, 257, 258, 259, 260, 261, 262, 263, 264, 265, 266, 267,

[0063] 268, 269, or more of the diseases provided herein.

[0064] In some embodiments of any one of the methods provided herein, the foregoing set of diseases comprises any 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, or more or all of one or more of Adrenoleukodystrophy, Angelman syndrome-like, ANKRD11 -related disorder, Attention deficit hyperactivity disorder, Autism spectrum disorder, BH4-Deficient Hyperphenylalaninemia, Brugada syndrome, CHARGE syndrome, CHD5-related Neurodevelopmental disorder, Christianson syndrome, CSNK2A1- related neurodevelopmental syndrome, DDX3X-related neurodevelopmental disorder, Dihydropyrimidine dehydrogenase deficiency, DYRKlA-r elated intellectual disability syndrome, Ehlers-Danlos syndrome spondylodysplastic type, Ehlers-Danlos syndrome, kyphoscoliotic type, Familial aortopathy, Gaucher Disease, Gorlin syndrome, HECW2- related neurodevelopmental disorder, Hereditary persistence of fetal hemoglobin, Hidrotic ectodermal dysplasia syndrome, HNRNPU-related developmental and epileptic encephalopathy, Houge-Janssens syndrome 2, Hypotonia, ataxia, and delayed development syndrome, KAT6A-related neurodevelopmental disorder with multiple anomalies, KMT5B- related neurodevelopmental disorder, Kleefstra syndrome, Lactose intolerance, Leigh syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Myofibrillar myopathy, PHGDH deficiency, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Primary ciliary dyskinesia, Primrose Syndrome, Prader-Willi Syndrome, PTEN hamartoma tumor syndrome, Pyridoxal phosphate-responsive seizures, Renal cysts and diabetes syndrome, Rhabdoid tumor predisposition syndrome, Rubinstein-Taybi syndrome, Schinzel-Giedion syndrome, SCN8A-related epilepsy, SHORT syndrome, SLC6A1 -related neurodevelopmental disorder, Spinal muscular atrophy, STXBP1 -related neurodevelopmental disorder, UNC13A-related Neurodevelopmental and Movement disorder, Zellweger spectrum disorders, and Zinc deficiency (e.g., transient neonatal zinc deficiency).

[0065] Methods of Sample Collection Some aspects of the present disclosure relate to a method of assessing genetic predisposition to a set of diseases in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases.

[0066] In some embodiments obtaining a sample from the subject comprises collecting a sample from the subject that comprises genetic material. Examples of samples include, but are not limited to cheek swab, saliva, blood, hair, skin, or other samples that contain genetic information. In some embodiments, the sample is a cheek swab. In some embodiments, the sample is saliva. In some embodiments, the sample is blood. In some embodiments, the sample is hair. In some embodiments, the sample is skin.

[0067] In some embodiments, the sample collection occurs through non-invasive methods. Examples of non-invasive methods include, but are not limited to, cheek swab, buccal swab, and saliva collection through a sponge, pipette, or swab. In some embodiments, the sample collection is performed using a cheek swab. In some embodiments, the sample collection is performed using a buccal swab. In some embodiments, the sample collection is saliva collection through a sponge, pipette, or swab.

[0068] In some embodiments, the sample is placed in a secure container. In some embodiments, the container is constructed from any suitable material. In some embodiments, the container is labeled. Examples of labeling techniques include, but are not limited to, written text, barcoding, or other identification means. In some embodiments, the samples are mailed to a facility.

[0069] In some embodiments, collecting genetic material from the sample is performed. As described herein the term “genetic material” refers to any material that carries genetic information of a subject. In some embodiments, genetic material is a natural nucleic acid(s), such as DNA or RNA, or nucleic acids derived therefrom. In some embodiments, genetic material can include, consist, or consist essentially of a nucleic acid of one or more strands of single and / or double stranded material. In some embodiments, genetic material can include numerous strands and numerous genes, or the entire genome of the subject. In some embodiments, genetic material can include portions of the entire genome of a subject. In some embodiments, genetic material comprises, consists, or consists essentially of nucleic acids.

[0070] Genetic Variant(s) Some aspects of the present disclosure relate to a method of assessing genetic predisposition to a set of diseases in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases.

[0071] In some embodiments, the genetic material is assessed for the presence or absence of a genetic variant. As described herein, the term “genetic variant” refers to changes or alterations to the reference gene, including, but not limited to, nucleotide base deletions, insertions, inversions, and substitutions in the coding and noncoding regions. In some embodiments, deletions may be of a single nucleotide base, a portion or a region of the nucleotide sequence of the gene, or the entire gene sequence. In some embodiments, insertions may be of one or more nucleotide bases.

[0072] As described herein, the term “gene” refers to a polynucleotide (e.g., a DNA segment), that encodes a polypeptide and includes regions preceding and following the coding regions as well as intervening sequences (introns) between individual coding segments (exons). In some embodiments, the gene is a human gene. As described herein, the term “reference gene” refers to a representative example of a gene in an idealized individual organism of a species. Generally, the reference gene is a template used to compare nucleotide sequences of a subject to make an assessment of the predisposition of the subject as provided herein. Preferably, thus, the reference gene is one that represents a healthy state for the relevant gene and associated disease(s). As described herein, the term “reference genome” refers to any particular known genome sequence, whether partial or complete, of any organism or virus that may be used to reference identified sequences from a subject. For example, a reference genome used for human subjects as well as many other organisms can be found at the National Center for Biotechnology Information at ncbi.nlm.nih.gov.

[0073] In some embodiments, the genetic variant is a pathogenic variant or a likely pathogenic variant, meaning the genetic variant is one associated with having or an increased likelihood of a subject having an associated disease. In some embodiments, the status of a genetic variant (e.g., pathogenic variant, likely pathogenic, variant of unknown significance, benign, likely benign) is determined using an archive of human genetic variants. In some embodiments, the archive of human genetic variants also includes interpretations of the relationships between human genetic variants and diseases and other conditions. Archive of human genetic variants are well known in the art. For example, ClinVar is a public archive of human genetic variants maintained by the National Institutes of Health. See Landrum, Melissa J et al. “ClinVar: improvements to accessing data.” Nucleic acids research vol. 48, DI (2020): D835-D844. doi:10.1093 / nar / gkz972.

[0074] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of DNAJC19, CP, ACBD5, ACOX1, ACTB, ACTG1, ACTL6B, HMBS, ADNP, ADSL, AHDC1, ALDHS5A1, SERPINA1, AMT, ANKRD11, ASL, ARID1B, DSC2, DSG2, DSP, PKP2, TMEM43, ASH1L, ASXL3, AUTS2, TAFAZZIN, BCL11A, BTD, SCN5A, CASK, CASQ2, RYR2, TRDN, CDKL5, CHAMP1, LMNA, CHD2, CHD3, CHD7, CHD8, CLPB, CNOT3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, CBS, LAMP2, DDX3X, DEAF1, DHCR7, DHPS, RPS19, RPS24, RPS10, DICER1, HADHA, HADHB, BAG3, DSP, FLNC, LMNA, MYH7, SCN5A, TNNC1, TNNT2, TTN, DLD, DES, RBM20, DYRK1A, EBF3, B3GALT6, PLOD1, COL5A2, COL1A2, COL3A1, EHMT1, ETHE1, GLA, F7, APC, SMAD3, ACTA2, FBN1, LOX , PRKG1, SMAD3, TGFB2, TGFBR1, APOB, LDLR, PCSK9, RET, ACTA2, MYH11, FANCA, BRCA2, BRIP1, FANCC, PALB2, FOXG1, FOXP1, FOXP3, GBA1, G6PD, GLDC, SLC2A1, GRIN2B, OAT, HECW2, HJV, HFE, ACVRL1, ENG, SMAD4, MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TTR, HIVEP2, HNRNPH2, HNRNPU, HSD17B10, PRODH, ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, BMPR1A, SMAD4, KAT6A, KIF1A, KMT5B, SPRED1, TP53, SMAD3, TGFBR1, TGFBR2, TRDN, SCN5A, KCNQ1, KCNH2, MLH1, MSH2, MSH6, PMS2, CACNA1S, RYR1, FBN1, HNF1A, MBD5, MECP2, MED13, MED13L, MEN1, RET, MUTYH, BAG3, DES, FLNC, NF2, NFU1, CIB2, CABP2, CDH23, CLDN14 , ESPN, ESRRB, SJB2, GJB2, LRTOMT, MARVELD2, MYO 15 A, MY03A, MY06, OTO A, OTOG, OTOGL, PDZD7, POU3F4, STRC, TMIE , TPRN, TRIOBP, PJVK, OTC, PACS1, STK11, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHIP, GAA, PPP2R5D, DNAI1, DNAH5, DNAH1, DNAH11, CCDC39, CCDC40, SPAG1, CCNO, DNAAF3, DNAI2, HYDIN, RSPH1, RSPH4A, MCIDAS, CCDC103, CFAP300, ODAD1, ODAD2, ODAD3, PTEN, PHYH, HNF1B, RBI, SMARCA4, SMARCB1, RPE65, SCN1A, SCN2A, SCN8A, DNAJC21, SBDS, SERAC1, SETBP1, PIK3R1, SLC6A1, SLC9A6, STXBP1, SUCLA2, SUCLG1, SYNGAP1, SLC22A5, TRIO, TSC1, TSC2, USP9X, VHL, ATP7B, WT1, ZEB2, GNB1, SPR, DNAJC12, KCND3, RERE, DP YD, ORC1, GJB6, PPP2CA, BRAF, LRPPRC, ACTN2, GOT2, PLEKHG5, ZBTB20, AAAS, AASS, ABCA3, ABCC8, ABCD1, ABCD4, ACACA, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACBD6, ACSF3, ADA2, ADAMTS13, ADGRL1, ADGRV1, AFG2A, AGL, AGO1, AGO2, AGXT, AHI1, AKR1D1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG13, ALMS1, ALOX12B, ALOXE3, ALPK3, ALPL, ANK1, ANKLE2, ANKRD17, AN05, AP2M1, AP4B1, AP4E1, AP4M1, AP4S1, AQP2, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARSA, ARSB, ARSG, ASPM, ASS1, ASXL1, ATL1, ATOH1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1D, ATP5PO, ATP6V0A1, ATP6V0A2, ATP6V1B1, ATP6V1E1, ATP7A, ATRX, AVPR2, B4GALNT1, BAP1, BBS1, BCAS3, BCKDHA, BCKDHB, BCS1L, BGN, BICD2, BICRA, BPTF, BRCA1, BRPF1, BRWD1, BTK, C12orf4, C12orf57, C19orfl2, CACNA1A, CACNA1C, CACNA1E, CACNA2D2, CALM1, CALM2, CAMK2A, CAMK2B, CAMK2G, CAPZA2, CASR, CAV3, CBL, CC2D2A, CCDC65, CD3D, CD3E, CD40LG, CDC42, CDC42BPB, CDCA7L, CDK13, CDKN1B, CELA2A, CEP250, CEP290, CEP85L, CFI, CFTR, CHEK2, CHKA, CHRNA1, CIITA, CLASP1, CLCN1, CLCN3, CLDN14, CLN6, CLRN1, CNGA3, COCH, COG6, COL11A1, COL12A1, COL1A1, COL4A3, COL4A4, COL4A5, COL5A1, COPB1, COQ8A, COX15, CPLANE1, CPS1, CPT2, CRADD, CRLF1, CSNK2B, CTNNA3, CTNNB1, CTNS, CTSA, CUBN, CUL4B, CUX1, CYBA, CYBB, CYFIP2, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP7B1, DAW1, DBT, DCLRE1C, DCX, DDC, DDHD2, DDX54, DEPDC5, DHDDS, DHX16, DHX30, DHX34, DHX37, DIAPH1, DLG4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF4, DNAAF5, DNAH8, DNAL1, DNM1L, DNMT3A, DOCK3, DOCK8, D0K7, DPH1, DRCI, DU0X2, DYNC1H1, DYNC2H1, ECHS1, EEF1A2, EFTUD2, EIF2AK3, EIF3F, EIF4A2, ELANE, EMC1, EP300, EPB42, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERF, ERLIN2, ESPN, ETFA, ETFB, ETFDH, ETV6, EVC2, F8, FA2H, FAH, FAM50A, FAM98C, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, FARS2, FASTKD2, FBN2, FBP1, FBXL4, FBXO11, FGF12, FH, FKBP10, FLAD1, FLCN, FLNA, FMRI, FOLR1, FOXJ1, FOXRED1, FUCA1, G6PC1, GABBR1, GABBR2, GABRB2, GABRB3, GALC, GALE, GALK1, GALT, GAMT, GATA1, GATA6, GATAD2B, GBA2, GCK, GDF1, GEMIN4, GFM2, GIPC3, GJB6-D13S1830, GJC2, GLB1, GLUD1, GMPPA, GNAI1, GNA01, GNB2, GNB5, GPC3, GPR143, GRIA1, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRM1, GRM7, GSS, GTPBP3, GUSB, Hl-4, H3-3A, H3-3B, HACE1, HADH, HBA1, HBA2, HBB, HBD, HCN1, HCP5;HLA-B, HDAC4, HDAC8, HEATR3, HEXA, HGSNAT, HK1, HLCS, HMGCL, HMGCS2, HNF4A, HNRNPU, H0GA1, HONG KONG 1, HPD, HPDL, HPS1, HRAS, HSD3B2, HUWE1, IARS2, IDUA, IGF1R, IGF2, IGHMBP2, IGSF1, IL2RG, IL7R, ILDR1, INS, IQSEC2, IRF2BPL, ISCA2, ITGA2B, ITGB3, ITPR1, IVD, JARID2, JPH2, KANSL1, KARS1, KAT6B, KCNA1, KCNA2, KCNB1, KCND2, KCNE1, KCNE2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ2, KCNJ5, KCNK4, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KDM1A, KDM5C, KDM6A, KIAA0586, KIF1C, KIF5A, KIF5B, KIT, KLF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KPTN, KRAS, LI CAM, LARS2, LAS1L, LDLRAP1, LIPA, LMBRD1, LOC106099062, LOC106099063, LOC106804612, LOC106804613, LOC107133510, LOC110006319, LOX, LOXHD1, LRRC32, LZTR1, MAGEL2, MAN2B1, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MAT1A, MC2R, MC4R, MCCC1, MCCC2, MCEE, MOD AS, MECR, MED12, MED12L, MEF2C, MEFV, METTL5, MFAP5, MFF, MFN2, MGAT2, MICU1, MIPEP, MITF, MKS1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, M0RC2, MPL, MPV17, MPZ, MRAP, MRAS, MRPL39, MRPS34, MSL3, MT- ATP6, MT-ATP8, MT-CO1, MT-CO3, MT-CYB, MTFMT, MTM1, MT-ND1, MT-ND2, MT- ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT01, MTOR, MTR, MTRFR, MT-TA, MT-TD, MT-TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN, MTTP, MT- TP, MT-TR, MT-TS1, MT-TS2, MT-TW, MYLK, MY07A, MYOT, MYPN, MYT1L, NAA10, NAA15, NAGLU, NARS1, NBAS, NCDN, NCF1, NCF2, NCF4, NDUFA6, NDUFAF2, NDUFAF5, NDUFAF6, NDUFAF8, NDUFC2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEFL, NF1, NFIB, NGLY1, NIPA1, NKX2-1, NOTCH1, NOTCH3, NOVA2, NPRL3, NR2E3, NR3C2, NR4A2, NRAS, NRXN1, NSD1, NSD2, NSRP1, NT5C2, NTNG2, NUDT2, NUP107, OCA2, OFD1, OPA1, OTOF, OTUD6B, OTUD7A, PACS2, PAFAH1B1, PAH, PAX3, PAX5, PBX1, PCCA, PCCB, PCDH15, PCDH19, PCGF2, PDE10A, PDGFRA, PDX1, PEX7, PHC1, PI4KA, PIDD1, PIGP, PIGQ, PIGT, PIK3CA, PIK3R2, PKD1, PKD2, PKHD1, PKLR, PLA2G6, PLN, PLP1, PLXNA1, PMM2, PMP22, PNKP, PNPLA1, PNPO, POGZ, POLDI, POLG, POLH, POLR2A, POMT2, POR, PPFIBP1, PPIL1, PPP1CB, PPP2R1A, PPP3CA, PQBP1, PRDM5, PRDX1, PRF1, PRKAR1A, PRKG1, PRKN, PROCID A, PRR12, PRRT2, PRSS1, PRX, PSAP, PSMC3, PTCHI, PTPN11, PTPN23, PTPRC, PTPRQ, PTRH2, PTS, PUF60, PURA, PYGL, QDPR, QRICH1, RAC1, RAC3, RAFI, RAI1, RALA, RASA1, RBM8A, RDX, REEP1, RFX5, RFXANK, RFXAP, RIT1, RLIM, RMND1, RNASEH2B, RNF135, RNF170, RPGR, RPL11, RPL35A, RPL36A-HNRNPH2, RPL5, RPS17, RPS26, RPS6KA3, RRAS2, RRM2B, RSPH9, RTN2, RUNX1, S1PR2, SACS, SATB2, SCAMP5, SCAPER, SCN1B, SCN3A, SCN9A, SCO2, SCV000266570, SDHA, SELENON, SEMA3E, SERPINC1, SET, SETD1B, SETD5, SF3B4, SGSH, SHANK1, SHANK2, SHANK3, SHMT2, SHOC2, SIAH1, SKI, SLC12A3, SLC16A2, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC26A4, SLC2A10, SLC32A1, SLC33A1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC4A1, SLC5A5, SLC6A8, SLC7A7, SLITRK2, SLX4, SMAD3, SMARCA2, SMC1A, SMC3, SMG9, SMN1, SMPD1, SNAP25, SNX14, SON, SOS1, SOS2, SOX2, SOX4, SOX5, SP9, SPAST, SPG11, SPG7, SPRED2, SPTA1, SPTAN1, SRCAP, SRD5A2, SRD5A3, SRP54, SRRM2, SRSF1, ST3GAL3, ST3GAL5, STX1A, STX1B, SUFU, SURF1, SVBP, SYN1, TACR3, TAF6, TAF8, TANC2, TANG02, TA0K1, TASP1, TAT, TBC1D24, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCIRG1, TCN2, TCTN1, TECRL, TECTA, TET3, TFE3, TG, TGFB2, TGFB3, TGM1, TH, THBS2, THRA, THUMPD1, TK2, TLK2, TMC1, TMEM126B, TMEM147, TMEM70, TMIE, TMPRSS3, TNXB, TOP3A, TPM3, TPO, TRAPPC10, TRAPPC9, TRIM63, TRIP12, TRMT10C, TRPM3, TSEN54, TSHR, TTC19, TUBA1A, TUBB4A, TUSC3, TWNK, TYMP, TYR, UBA5, UBE3A, UGT1A1, UPF3B, UQCRFS1, USH1C, USH1G, USH2A, USP27X, VAMP1, VDR, VPS13B, WASF1, WBP4, WDR45, WDR62, WDR72, WDR81, WFS1, WHRN, WNK3, WWOX, XPA, XPC, ZAP70, ZBTB18, ZC4H2, ZDHHC9, ZFYVE26, ZMYM2, ZMYND10, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF526, ZNF711, AGTPBP1, CHD5, FOXP4, LSM1, NDST1, SMARCA5, TPK1, TPP1, ZMYM3, ZSCAN10, GCH1, PPP2RSD, WAS, ALDH5A1, BH4, ATP6V0A4, NTRK1, BRCA2, PHGDH, VWF, SLC30A2, LDB3, ERCC8, DNAAF19, DNAH9, DRC2, GCDH, EFEMP2, SLC2A2, and MAT2A.

[0075] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant occurs is of one or more, any combination, or all of PEX10, ZEB2, ANKRD11, KIF1A, GNB1, SPR, DNAJC12, KCND3, RERE, SLC9A6, DP YD, ORC1, BCL11A, GJB6, PPP2CA, AHDC1, BRAF, LRPPRC, TRIO, ACTN2, GOT2, CREBBP, SETBP 1, PLEKHG5, ZBTB20, FBN1, GBA1, RSPH4A, ZBTB20, HNF1B, SMARCA4, and MT-TL1.

[0076] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant occurs is of one or more, any combination, or all of AC0X1, ACTA2, ACTB, ACTC1, ACTL6B, ACVRL1, ADA2, ADNP, ADSL, AHDC1, ALDH5A1, AMT, ANKRD11, APC, APOB, ASL, ASXL3, AUTS2, B3GALT6, BAG3, BCL11A, BRCA2, BRIP1, BTD, CABP2, CASK, CBS, CCDC103, CCDC39, CCDC40, CCNO, CDH23, CDKN1B, CFAP300, CHD2, CHD3, CHD7, CHD8, CIB2, CLDN14, COCH, COL1A2, COL3A1, COL5A2, CP, CREBBP, CSNK2A1, CYP7B1, DDX3X, DEAF1, DES, DICER1, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DSC2, DSG2, DSP, EBF3, EHMT1, ENG, ESPN, ETHE1, F7, FANCA, FANCC, FANCG, FANCI, FBN1, FH, FLCN, FLNC, FOXJ1, FOXP1, G6PD, GIPC3, GJB2, GLA, GLDC, GRIN2B, GRXCR1, HADHA, HADHB, HECW2, HIVEP2, HMBS, HNF1A, HNF1B, HNRNPU, HSD17B10, HYDIN, ILDR1, ITGA2B, ITGB3, KAT6A, KCNH2, KCNQ4, KIF1A, KMT5B, LAMP2, LDLR, LHFPL5, LOX, MAP2K2, MARVELD2, MCIDAS, MECP2, MED13L, MLH1, MSH2, MSH6, MT-ATP6, MT-CO1, MT-CYB, MT-ND1, MT-ND5, MTOR, MT-TA, MT- TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN, MT-TS1, MT-TS2, MYBPC3, MYH7, MYL2, MYL3, MY015A, MY03A, MY06, MY07A, MYPN, NFU1, NOTCH3, NRAS, OAT, ODAD1, ODAD2, OTC, OTO A, OTOF, OTOG, OTOGL, PAH, PALB2, PCSK9, PDZD7, PHYH, PIK3R1, PJVK, PKP2, PLOD1, PMP22, POLG, POU3F4, PPP2R5D, PRKAG2, PRKAR1A, PRODH, PTCHI, PTEN, PTPN11, PTPRQ, RAFI, RBI, RBM20, RDX, RET, RPS10, RPS19, RPS24, RSPH1, RSPH4A, RUNX1, RYR1, S1PR2, SBDS, SCN1A, SCN2A, SCN5A, SCN8A, SERAC1, SERPINA1, SETBP1, SLC22A5, SLC2A1, SLC37A4, SLC39A4, SLC4A1, SLC6A1, SMAD4, SMARCA4, SMARCB1, SOS1, SPAG1, SPRED1, STRC, STXBP1, TECTA, TGFB2, TGFBR1, TGFBR2, TMC1, TMEM43, TMIE, TNNI3, TNNT2, TP53, TPM1, TPRN, TRDN, TRIO, TRIOBP, TSC1, TSC2, TTR, USH2A, WAS, WFS1, and WT1.

[0077] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant occurs is of one or more, any combination, or all of ACTB, ACTG1, ACTL6B, ADNP, ABCD1, ADSL, AHDC1, AMT, CDKL5, MECP2, TPP1, ANKRD11, ARID1B, ASH1L, ASXL3, AUTS2, BCL11A, CASK, CHAMP1, CHD7, EP300, KMT2D, PUF60, RERE, SEMA3E, CHD2, CHD3, CHD5, CHD8, SLC9A6, CLPB, CNOT3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, LAMP2, DDX3X, DEAF1, DHCR7, DHPS, DYRK1A, GCH1, SPR, EBF3, EHMT1, ETHE1, FOXG1, FOXP1, GLDC, ACTL6B, ADGRL1, AGTPBP1, AHI1, AKT3, AP4M1, ARF3, ARFGEF1, ARFGEF2, ARHGEF9, ATP1A3, ATRX, BCAS3, BPTF, BRPF1, BTD, C12orf57, C19orfl2, CACNA1A, CAMK2A, CAMK2G, CDK13, CEP290, COL12A1, COQ8A, CPLANE1, CTNNB1, CUL4B, CYFIP2, CYP2U1, DDHD2, DIAPH1, D0CK3, DPH1, DSP, DYNC1H1, EFTUD2, EMC1, FARS2, FBXL4, FLNA, FOXP4, GABBR1, GEMIN4, GNB1, GNB2, GNB5, GRM1, GRM7, H3-3A, H3-3B, HACE1, HEXA, KANSL1, KARS1, KAT6A, KCNN2, KCNQ2, KCNQ5, KMT2B, KMT2E, LAS1L, LRRC32, LSM1, MED13L, MFF, MFN2, MGAT2, MKS1, M0RC2, MT01, NAA15, NDST1, NSD2, NTNG2, NUP107, PACS1, PCGF2, PDE10A, PIGQ, PIGT, PIK3CA, PLA2G6, POGZ, POLG, PPP2R5D, PTEN, PTPN11, PTPN23, PTRH2, PURA, RAC1, RBM8A, RLIM, RPE65, SCAMP5, SCN1A, SCN8A, SET, SHANK3, SLC2A1, SLC6A1, SMARCA5, SMG9, SNAP25, SON, SRD5A3, TAF6, TAOK1, TASP1, TBCK, TCF4, TCTN1, TRPM3, TSEN54, TUBA1A, TUBB4A, VPS13B, WDR45, WWOX, ZMYM3, ZMYND11, ZSCAN10, AMT, DNAH5, GRIN2B, HECW2, HIVEP2, HNRNPH2, HNRNPU, PPP2R1A, KIF1A, KMT5B, SPRED1, ATP5PO, BCS1L, COX15, ECHS1, FASTKD2, FOXRED1, IARS2, MRPL39, MRPS34, MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1, MT-TW, MTFMT, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1, TPK1, MBD5, MED 13, TRIO, NFU1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, RAFI, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED2, PACS1, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PHIP, PPP2RSD, ZBTB20, SETBP 1, SCN2A, PIK3R1, DNAJC21, SBDS, SRP54, STXBP1, SUCLA2, SUCLG1, SYNGAP1, SERPINC1, TSC1, TSC2, UNC13A, USP9X, WAS, PEX1, PEX2, PEX5, PEX6, PEX10, and PEX19.

[0078] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant occurs is of one or more, any combination, or all of DNAJC19, ACBD5, CP, AC0X1, HMBS, ALDH5A1, PROCID A, SERPINA1, AMT, ASL, BH4, BTD, ATP7A, MT-ATP6, PMP22, TTR, CBS, DHCR7, GATA1, HEATR3, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, TP53, DICER1, DPYD, HADHA, HADHB, ATP6V0A4, ATP6V1B1, SLC4A1, WDR72, DLD, GALC, GLA, F7, NTRK1, RET, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, FOXP3, GBA1, MSH6, PRX, GLDC, G6PD, SLC2A1, DNAH5, PTCHI, SUFU, OAT, ACVRL1, ENG, RASA1, HBB, HSD17B10, ALDH4A1, IVD, ATP5PO, BCS1L, COX15, ECHS1, FARS2, FASTKD2, FBXL4, FOXRED1, IARS2, MRPL39, MRPS34, MT-C03, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1, MT-TW, MTFMT, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1, TPK1, RYR1, HNF1A, HNF4A, ETFA, ETFB, ETFDH, FLAD1, TSC2, MEN1, CDKN1B, MUTYH, DES, FLNC, LDB3, MYOT, C19orfl2, NF1, SPRED1, CABP2, CDH23, CIB2, CLDN14, COCH, ERCC8, ESPN, GJB2, GJB6, GJB6-D13S1830, GRXCR1, ILDR1, KCNQ4, LHFPL5, MARVELD2, MYO 15 A, MY03A, MY06, MY07A, OTO A, OTOF, OTOG, OTOGL, PJVK, PTPRQ, RDX, S1PR2, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIO, TRIOBP, WHRN, OTC, STK11, PHGDH, GAA, CCDC39, CCDC40, CCNO, CFAP300, DAW1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAL1, DRCI, DRC2, GCDH, HYDIN, MCIDAS, 0DAD1, 0DAD2, OFD1, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1, ZMYND10, PTEN, PNPO, PEX7, PHYH, HNF1B, RBI, SMARCA4, SMARCB1, RPE65, SERAC1, DNAJC21, SBDS, SRP54, ADA2, SDHB, VHL, VWF, BRCA2, GPC3, IGF2, WT1, ATP7B, WAS, SLC30A2, and RET.

[0079] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant occurs is of one or more, any combination, or all of CTNNA3, DES, DSC2, DSG2, DSP, FLNC, LMNA, MYBPC3, PKP2, TMEM43, CACNA1C, SCN5A, CALM1, CASQ2, RYR2, TRDN, ACTC1, BAG3, DMD, MYH7, MYPN, RAFI, RBM20, TNNI3, TNNT2, TPM1, TTN, ABCD1, B3GALT6, C0L1A1, COL1A2, COL3A1, COL5A1, COL5A2, DCLRE1C, PLOD1, PRDM5, SMAD3, THBS2, TNXB, ACTA2, BGN, EFEMP2, F8, FBN1, SLC12A3, SLC2A10, SMAD4, TGFB2, TGFBR1, APOB, LDLR, LDLRAP1, PCSK9, FBN2, FLNA, LOX, MAT2A, MED12, MYH11, MYLK, N0TCH1, PRKG1, SCV000266570, SKI, TGFB3, TGFBR2, ACTN2, ALPK3, CASR, GLA, JPH2, KIF5B, LAMP2, MT-TL1, MYL2, MYL3, PLN, PRKAG2, SLC25A4, TNNC1, TRIM63, ABCA3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, PTPN11, SLC2A2, TECRL, DSP, KCNH2, KCNQ1, SCN5A, FBN1, TGFBR1, and TGFBR2.

[0080] In some embodiments of any one of the methods provided herein, the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of the pathogenic variants of Table 1 or Table 2, or of the genes of Table 3, Table 4, or Table 5. In some embodiments of any one of the methods provided herein, the pathogenic variant or likely pathogenic variant that is assessed is at least 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 15 or more or all of the variants of Table 1 or Table 2, or of the genes of Table 3, Table 4, or Table 5 for each respective disease of the set of diseases.

[0081] In some embodiments of any one of the methods provided herein, the genes that are assessed, comprise one or more, any combination of, or all of the genes provided herein, such as in Table 1, Table 2, Table 3, Table 4, or Table 5, or the Figures. In some embodiments of any one of the methods provided herein, the genes that are assessed comprise at least 1, 2, 3, 4, 5, or more or all of the genes of Table 1, Table 2, Table 3, Table 4, or Table 5, or the Figures that are associated with each disease of the set of diseases.

[0082] Methods of Screening for Variants

[0083] In some embodiments, the genetic material is assessed for the presence or absence of a genetic variant. In some embodiments, assessing the genetic material is performed using sequencing. In some embodiments, the sequencing is whole genome sequencing or targeted gene sequencing. Methods of whole genome sequencing or targeted gene sequencing are well-known in the art and may be used herein. For example, Goodwin, S., McPherson, J. & McCombie, W. Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet 17, 333-351 (2016). doi.org / 10.1038 / nrg.2016.49; Bagger, F.O., Borgwardt, L., Jespersen, A.S. et al. Whole genome sequencing in clinical practice. BMC Med Genomics 17, 39 (2024). doi.org / 10.1186 / sl2920-024-01795-w; and Pei, Xiao Meng et al. “Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases.” Cells vol. 12,3 493. 2 Feb. 2023, doi:10.3390 / cellsl2030493; the entire contents of each of which are incorporated herein by reference. In some embodiments, determining a sequence (e.g., the presence or absence of a sequence or mutation) may be performed with non-sequencing techniques, such as annealing or PCR-based methods.

[0084] In some embodiments or any one of the methods provided herein, assessing the presence or absence of a genetic variant(s) comprises sequencing or determining a sequence of at least part of a genome comprises one or more genes of one or more cells in a sample of the subject, identifying from said sequencing or determining one or more mutations in the one or more genes, wherein the presence of said mutation(s) indicates an increased risk of having or developing a disease. In some embodiments or any one of the methods provided herein, sequencing or determining a sequence at least part of a genome comprises sequencing or determining a sequence of one or more, any combination, or all of DNAJC19, CP, ACBD5, ACOX1, ACTB, ACTG1, ACTL6B, HMBS, ADNP, ADSL, AHDC1, ALDHS5A1, SERPINA1, AMT, ANKRD11, ASL, ARID1B, DSC2, DSG2, DSP, PKP2, TMEM43, ASH1L, ASXL3, AUTS2, TAFAZZIN, BCL11A, BTD, SCN5A, CASK, CASQ2, RYR2, TRDN, CDKL5, CHAMP1, LMNA, CHD2, CHD3, CHD7, CHD8, CLPB, CNOT3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, CBS, LAMP2, DDX3X, DEAF1, DHCR7, DHPS, RPS19, RPS24, RPS10, DICER1, HADHA, HADHB, BAG3, DSP, FLNC, LMNA, MYH7, SCN5A, TNNC1, TNNT2, TTN, DLD, DES, RBM20, DYRK1A, EBF3, B3GALT6, PLOD1, COL5A2, COL1A2, COL3A1, EHMT1, ETHE1, GLA, F7, APC, SMAD3, ACTA2, FBN1, LOX , PRKG1, SMAD3, TGFB2, TGFBR1, APOB, LDLR, PCSK9, RET, ACTA2, MYH11, FANCA, BRCA2, BRIP1, FANCC, PALB2, FOXG1, FOXP1, FOXP3, GBA1, G6PD, GLDC, SLC2A1, GRIN2B, OAT, HECW2, HJV, HFE, ACVRL1, ENG, SMAD4, MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TTR, HIVEP2, HNRNPH2, HNRNPU, HSD17B10, PRODH, ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, BMPR1A, SMAD4, KAT6A, KIF1A, KMT5B, SPRED1, TP53, SMAD3, TGFBR1, TGFBR2, TRDN, SCN5A, KCNQ1, KCNH2, MLH1, MSH2, MSH6, PMS2, CACNA1S, RYR1, FBN1, HNF1A, MBD5, MECP2, MED13, MED13L, MEN1, RET, MUTYH, BAG3, DES, FLNC, NF2, NFU1, CIB2, CABP2, CDH23, CLDN14 , ESPN, ESRRB, SJB2, GJB2, LRTOMT, MARVELD2, MYO 15 A, MYO3A, MY06, OTO A, OTOG, OTOGL, PDZD7, POU3F4, STRC, TMIE , TPRN, TRIOBP, PJVK, OTC, PACS1, STK11, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHIP, GAA, PPP2R5D, DNAI1, DNAH5, DNAH1, DNAH11, CCDC39, CCDC40, SPAG1, CCNO, DNAAF3, DNAI2, HYDIN, RSPH1, RSPH4A, MCIDAS, CCDC103, CFAP300, ODAD1, ODAD2, ODAD3, PTEN, PHYH, HNF1B, RBI, SMARCA4, SMARCB1, RPE65, SCN1A, SCN2A, SCN8A, DNAJC21, SBDS, SERAC1, SETBP1, PIK3R1, SLC6A1, SLC9A6, STXBP1, SUCLA2, SUCLG1, SYNGAP1, SLC22A5, TRIO, TSC1, TSC2, USP9X, VHL, ATP7B, WT1, ZEB2, GNB1, SPR, DNAIC12, KCND3, RERE, DP YD, ORC1, GIB6, PPP2CA, BRAF, LRPPRC, ACTN2, GOT2, PLEKHG5, ZBTB20, AAAS, AASS, ABCA3, ABCC8, ABCD1, ABCD4, ACACA, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACBD6, ACSF3, ADA2, ADAMTS13, ADGRL1, ADGRV1, AFG2A, AGL, AGO1, AGO2, AGXT, AHI1, AKR1D1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG13, ALMS1, ALOX12B, ALOXE3, ALPK3, ALPL, ANK1, ANKLE2, ANKRD17, AN05, AP2M1, AP4B1, AP4E1, AP4M1, AP4S1, AQP2, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARSA, ARSB, ARSG, ASPM, ASS1, ASXL1, ATL1, ATOH1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1D, ATP5PO, ATP6V0A1, ATP6V0A2, ATP6V1B1, ATP6V1E1, ATP7A, ATRX, AVPR2, B4GALNT1, BAP1, BBS1, BCAS3, BCKDHA, BCKDHB, BCS1L, BGN, BICD2, BICRA, BPTF, BRCA1, BRPF1, BRWD1, BTK, C12orf4, C12orf57, C19orfl2, CACNA1A, CACNA1C, CACNA1E, CACNA2D2, CALM1, CALM2, CAMK2A, CAMK2B, CAMK2G, CAPZA2, CASR, CAV3, CBL, CC2D2A, CCDC65, CD3D, CD3E, CD40LG, CDC42, CDC42BPB, CDCA7L, CDK13, CDKN1B, CELA2A, CEP250, CEP290, CEP85L, CFI, CFTR, CHEK2, CHKA, CHRNA1, CIITA, CLASP1, CLCN1, CLCN3, CLDN14, CLN6, CLRN1, CNGA3, COCH, COG6, COL11A1, COL12A1, COL1A1, COL4A3, COL4A4, COL4A5, COL5A1, COPB1, COQ8A, COX15, CPLANE1, CPS1, CPT2, CRADD, CRLF1, CSNK2B, CTNNA3, CTNNB1, CTNS, CTSA, CUBN, CUL4B, CUX1, CYBA, CYBB, CYFIP2, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP7B1, DAW1, DBT, DCLRE1C, DCX, DDC, DDHD2, DDX54, DEPDC5, DHDDS, DHX16, DHX30, DHX34, DHX37, DIAPH1, DLG4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF4, DNAAF5, DNAH8, DNAL1, DNM1L, DNMT3A, DOCK3, DOCK8, D0K7, DPH1, DRCI, DU0X2, DYNC1H1, DYNC2H1, ECHS1, EEF1A2, EFTUD2, EIF2AK3, EIF3F, EIF4A2, ELANE, EMC1, EP300, EPB42, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERF, ERLIN2, ESPN, ETFA, ETFB, ETFDH, ETV6, EVC2, F8, FA2H, FAH, FAM50A, FAM98C, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, FARS2, FASTKD2, FBN2, FBP1, FBXL4, FBX011, FGF12, FH, FKBP10, FLAD1, FLCN, FLNA, FMRI, FOLR1, FOXJ1, FOXRED1, FUCA1, G6PC1, GABBR1, GABBR2, GABRB2, GABRB3, GALC, GALE, GALK1, GALT, GAMT, GATA1, GATA6, GATAD2B, GBA2, GCK, GDF1, GEMIN4, GFM2, GIPC3, GJB6-D13S1830, GJC2, GLB1, GLUD1, GMPPA, GNAI1, GNAO1, GNB2, GNB5, GPC3, GPR143, GRIA1, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRM1, GRM7, GSS, GTPBP3, GUSB, Hl-4, H3-3A, H3-3B, HACE1, HADH, HBA1, HBA2, HBB, HBD, HCN1, HCP5;HLA-B, HDAC4, HDAC8, HEATR3, HEXA, HGSNAT, HK1, HLCS, HMGCL, HMGCS2, HNF4A, HNRNPU, HOGA1, HONG KONG 1, HPD, HPDL, HPS1, HRAS, HSD3B2, HUWE1, IARS2, IDUA, IGF1R, IGF2, IGHMBP2, IGSF1, IL2RG, IL7R, ILDR1, INS, IQSEC2, IRF2BPL, ISCA2, ITGA2B, ITGB3, ITPR1, IVD, JARID2, JPH2, KANSL1, KARS1, KAT6B, KCNA1, KCNA2, KCNB1, KCND2, KCNE1, KCNE2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ2, KCNJ5, KCNK4, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KDM1A, KDM5C, KDM6A, KIAA0586, KIF1C, KIF5A, KIF5B, KIT, KLF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KPTN, KRAS, LI CAM, LARS2, LAS1L, LDLRAP1, LIPA, LMBRD1, LOC106099062, LOC106099063, LOC106804612, LOC106804613, LOC107133510, LOC110006319, LOX, LOXHD1, LRRC32, LZTR1, MAGEL2, MAN2B1, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MAT1A, MC2R, MC4R, MCCC1, MCCC2, MCEE, MOD AS, MECR, MED12, MED12L, MEF2C, MEFV, METTL5, MFAP5, MFF, MFN2, MGAT2, MICU1, MIPEP, MITF, MKS1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, MORC2, MPL, MPV17, MPZ, MRAP, MRAS, MRPL39, MRPS34, MSL3, MT- ATP6, MT-ATP8, MT-CO1, MT-CO3, MT-CYB, MTFMT, MTM1, MT-ND1, MT-ND2, MT- ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT01, MTOR, MTR, MTRFR, MT-TA, MT-TD, MT-TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN, MTTP, MT- TP, MT-TR, MT-TS1, MT-TS2, MT-TW, MYLK, MY07A, MYOT, MYPN, MYT1L, NAA10, NAA15, NAGLU, NARS1, NBAS, NCDN, NCF1, NCF2, NCF4, NDUFA6, NDUFAF2, NDUFAF5, NDUFAF6, NDUFAF8, NDUFC2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEFL, NF1, NFIB, NGLY1, NIPA1, NKX2-1, NOTCH1, NOTCH3, NOVA2, NPRL3, NR2E3, NR3C2, NR4A2, NRAS, NRXN1, NSD1, NSD2, NSRP1, NT5C2, NTNG2, NUDT2, NUP107, OCA2, OFD1, OPA1, OTOF, OTUD6B, OTUD7A, PACS2, PAFAH1B1, PAH, PAX3, PAX5, PBX1, PCCA, PCCB, PCDH15, PCDH19, PCGF2, PDE10A, PDGFRA, PDX1, PEX7, PHC1, PI4KA, PIDD1, PIGP, PIGQ, PIGT, PIK3CA, PIK3R2, PKD1, PKD2, PKHD1, PKLR, PLA2G6, PLN, PLP1, PLXNA1, PMM2, PMP22, PNKP, PNPLA1, PNPO, POGZ, POLDI, POLG, POLH, POLR2A, POMT2, POR, PPFIBP1, PPIL1, PPP1CB, PPP2R1A, PPP3CA, PQBP1, PRDM5, PRDX1, PRF1, PRKAR1A, PRKG1, PRKN, PROCID A, PRR12, PRRT2, PRSS1, PRX, PSAP, PSMC3, PTCHI, PTPN11, PTPN23, PTPRC, PTPRQ, PTRH2, PTS, PUF60, PURA, PYGL, QDPR, QRICH1, RAC1, RAC3, RAFI, RAH, RALA, RASA1, RBM8A, RDX, REEP1, RFX5, RFXANK, RFXAP, RIT1, RLIM, RMND1, RNASEH2B, RNF135, RNF170, RPGR, RPL11, RPL35A, RPL36A-HNRNPH2, RPL5, RPS17, RPS26, RPS6KA3, RRAS2, RRM2B, RSPH9, RTN2, RUNX1, S1PR2, SACS, SATB2, SCAMP5, SCAPER, SCN1B, SCN3A, SCN9A, SCO2, SCV000266570, SDHA, SELENON, SEMA3E, SERPINC1, SET, SETD1B, SETD5, SF3B4, SGSH, SHANK1, SHANK2, SHANK3, SHMT2, SHOC2, SIAH1, SKI, SLC12A3, SLC16A2, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC26A4, SLC2A10, SLC32A1, SLC33A1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC4A1, SLC5A5, SLC6A8, SLC7A7, SLITRK2, SLX4, SMAD3, SMARCA2, SMC1A, SMC3, SMG9, SMN1, SMPD1, SNAP25, SNX14, SON, SOS1, SOS2, SOX2, SOX4, SOX5, SP9, SPAST, SPG11, SPG7, SPRED2, SPTA1, SPTAN1, SRCAP, SRD5A2, SRD5A3, SRP54, SRRM2, SRSF1, ST3GAL3, ST3GAL5, STX1A, STX1B, SUFU, SURF1, SVBP, SYN1, TACR3, TAF6, TAF8, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D24, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCIRG1, TCN2, TCTN1, TECRL, TECTA, TET3, TFE3, TG, TGFB2, TGFB3, TGM1, TH, THBS2, THRA, THUMPD1, TK2, TLK2, TMC1, TMEM126B, TMEM147, TMEM70, TMIE, TMPRSS3, TNXB, TOP3A, TPM3, TPO, TRAPPC10, TRAPPC9, TRIM63, TRIP12, TRMT10C, TRPM3, TSEN54, TSHR, TTC19, TUBA1A, TUBB4A, TUSC3, TWNK, TYMP, TYR, UBA5, UBE3A, UGT1A1, UPF3B, UQCRFS1, USH1C, USH1G, USH2A, USP27X, VAMP1, VDR, VPS13B, WASF1, WBP4, WDR45, WDR62, WDR72, WDR81, WFS1, WHRN, WNK3, WWOX, XPA, XPC, ZAP70, ZBTB18, ZC4H2, ZDHHC9, ZFYVE26, ZMYM2, ZMYND10, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF526, ZNF711, AGTPBP1, CHD5, FOXP4, LSM1, NDST1, SMARCA5, TPK1, TPP1, ZMYM3, ZSCAN10, GCH1, PPP2RSD, WAS, ALDH5A1, BH4, ATP6V0A4, NTRK1, BRCA2, PHGDH, VWF, SLC30A2, LDB3, ERCC8, DNAAF19, DNAH9, DRC2, GCDH, EFEMP2, SLC2A2, and MAT2A.

[0085] In some embodiments or any one of the methods provided herein, assessing the presence or absence of a genetic variant(s) comprises sequencing or determining a sequence of at least part of a genome comprises one or more genes of one or more cells in a sample of the subject, identifying from said sequencing or determining one or more mutations in the one or more genes, wherein the presence of said mutation(s) indicates an increased risk of having or developing a disease. In some embodiments or any one of the methods provided herein, sequencing or determining a sequence at least part of a genome comprises sequencing or determining a sequence of one or more, any combination, or all of DNAJC19, CP, ACBD5, AC0X1, ACTB, ACTG1, ACTL6B, HMBS, ADNP, ADSL, AHDC1, ALDHS5A1, SERPINA1, AMT, ANKRD11, ASL, ARID1B, DSC2, DSG2, DSP, PKP2, TMEM43, ASH1L, ASXL3, AUTS2, TAFAZZIN, BCL11A, BTD, SCN5A, CASK, CASQ2, RYR2, TRDN, CDKL5, CHAMP1, LMNA, CHD2, CHD3, CHD7, CHD8, CLPB, CNOT3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, CBS, LAMP2, DDX3X, DEAF1, DHCR7, DHPS, RPS19, RPS24, RPS10, DICER1, HADHA, HADHB, BAG3, DSP, FLNC, LMNA, MYH7, SCN5A, TNNC1, TNNT2, TTN, DLD, DES, RBM20, DYRK1A, EBF3, B3GALT6, PLOD1, COL5A2, COL1A2, COL3A1, EHMT1, ETHE1, GLA, F7, APC, SMAD3, ACTA2, FBN1, LOX , PRKG1, SMAD3, TGFB2, TGFBR1, APOB, LDLR, PCSK9, RET, ACTA2, MYH11, FANCA, BRCA2, BRIP1, FANCC, PALB2, FOXG1, FOXP1, FOXP3, GBA1, G6PD, GLDC, SLC2A1, GRIN2B, OAT, HECW2, HJV, HFE, ACVRL1, ENG, SMAD4, MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TTR, HIVEP2, HNRNPH2, HNRNPU, HSD17B10, PRODH, ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, BMPR1A, SMAD4, KAT6A, KIF1A, KMT5B, SPRED1, TP53, SMAD3, TGFBR1, TGFBR2, TRDN, SCN5A, KCNQ1, KCNH2, MLH1, MSH2, MSH6, PMS2, CACNA1S, RYR1, FBN1, HNF1A, MBD5, MECP2, MED13, MED13L, MEN1, RET, MUTYH, BAG3, DES, FLNC, NF2, NFU1, CIB2, CABP2, CDH23, CLDN14 , ESPN, ESRRB, SJB2, GJB2, LRTOMT, MARVELD2, MYO 15 A, MY03A, MY06, OTO A, OTOG, OTOGL, PDZD7, POU3F4, STRC, TMIE , TPRN, TRIOBP, PJVK, OTC, PACS1, STK11, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHIP, GAA, PPP2R5D, DNAI1, DNAH5, DNAH1, DNAH11, CCDC39, CCDC40, SPAG1, CCNO, DNAAF3, DNAI2, HYDIN, RSPH1, RSPH4A, MCIDAS, CCDC103, CFAP300, 0DAD1, 0DAD2, 0DAD3, PTEN, PHYH, HNF1B, RBI, SMARCA4, SMARCB1, RPE65, SCN1A, SCN2A, SCN8A, DNAJC21, SBDS, SERAC1, SETBP1, PIK3R1, SLC6A1, SLC9A6, STXBP1, SUCLA2, SUCLG1, SYNGAP1, SLC22A5, TRIO, TSC1, TSC2, USP9X, VHL, ATP7B, WT1, ZEB2, GNB1, SPR, DNAJC12, KCND3, RERE, DP YD, ORC1, GJB6, PPP2CA, BRAF, LRPPRC, ACTN2, GOT2, PLEKHG5, ZBTB20, ACOX1, ACTA2, ACTB, ACTC1, ACTL6B, ACVRL1, ADA2, ADNP, ADSL, AHDC1, ALDH5A1, AMT, ANKRD11, APC, APOB, ASL, ASXL3, AUTS2, B3GALT6, BAG3, BCL11A, BRCA2, BRIP1, BTD, CABP2, CASK, CBS, CCDC103, CCDC39, CCDC40, CCNO, CDH23, CDKN1B, CFAP300, CHD2, CHD3, CHD7, CHD8, CIB2, CLDN14, COCH, COL1A2, COL3A1, COL5A2, CP, CREBBP, CSNK2A1, CYP7B1, DDX3X, DEAF1, DES, DICER1, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DSC2, DSG2, DSP, EBF3, EHMT1, ENG, ESPN, ETHE1, F7, FANCA, FANCC, FANCG, FANCI, FBN1, FH, FLCN, FLNC, FOXJ1, FOXP1, G6PD, GIPC3, GJB2, GLA, GLDC, GRIN2B, GRXCR1, HADHA, HADHB, HECW2, HIVEP2, HMBS, HNF1A, HNF1B, HNRNPU, HSD17B10, HYDIN, ILDR1, ITGA2B, ITGB3, KAT6A, KCNH2, KCNQ4, KIF1A, KMT5B, LAMP2, LDLR, LHFPL5, LOX, MAP2K2, MARVELD2, MCIDAS, MECP2, MED13L, MLH1, MSH2, MSH6, MT-ATP6, MT-C01, MT-CYB, MT-ND1, MT-ND5, MTOR, MT-TA, MT- TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN, MT-TS1, MT-TS2, MYBPC3, MYH7, MYL2, MYL3, MY015A, MY03A, MY06, MY07A, MYPN, NFU1, NOTCH3, NRAS, OAT, 0DAD1, ODAD2, OTC, OTO A, OTOF, OTOG, OTOGL, PAH, PALB2, PCSK9, PDZD7, PHYH, PIK3R1, PJVK, PKP2, PLOD1, PMP22, POLG, POU3F4, PPP2R5D, PRKAG2, PRKAR1A, PRODH, PTCHI, PTEN, PTPN11, PTPRQ, RAFI, RBI, RBM20, RDX, RET, RPS10, RPS19, RPS24, RSPH1, RSPH4A, RUNX1, RYR1, S1PR2, SBDS, SCN1A, SCN2A, SCN5A, SCN8A, SERAC1, SERPINA1, SETBP1, SLC22A5, SLC2A1, SLC37A4, SLC39A4, SLC4A1, SLC6A1, SMAD4, SMARCA4, SMARCB1, SOS1, SPAG1, SPRED1, STRC, STXBP1, TECTA, TGFB2, TGFBR1, TGFBR2, TMC1, TMEM43, TMIE, TNNI3, TNNT2, TP53, TPM1, TPRN, TRDN, TRIO, TRIOBP, TSC1, TSC2, TTR, USH2A, WAS, WFS1, and WT1.

[0086] In some embodiments, the predisposition to a set of diseases is based on the presence or absence of at least one (e.g., one or more, any combination, or all) or the pathogenic variants or likely pathogenic variants for each disease in the set of diseases. Exemplary pathogenic variants or likely pathogenic variants are provided in Table 1 and Table 2. In some embodiments, the gene(s) assessed for the presence or absence of at least one (e.g., one or more, any combination, or all) pathogenic variant or a likely pathogenic variant for each disease in the set of diseases is provided in Table 1 and Table 2, or is / are of the genes of Table 3, Table 4, or Table 5.

[0087] Subjects

[0088] In some embodiments of any one of the methods provided herein, the present disclosure provides methods of assessing genetic predisposition to a set of diseases in a subject. As described herein, a subject is a human subject. In some embodiments, the subject is a pediatric subject. As described herein, the term “pediatric” refers to a subject that is a newborn, infant, child, or adolescent. In some embodiments, the subject is not an adult subject. In some embodiments, the subject is a child. In some embodiments, the subject is an infant. In some embodiments, the subject is a newborn.

[0089] In some embodiments of any one of the methods provided herein, the subject is less than 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18) years of age. In some embodiments, the subject is less than 18 years of age, less than 17 years of age, less than 16 years of age, less than 15 years of age, less than 14 years of age, less than 13 years of age, less than 12 years of age, less than 11 years of age, less than 10 years of age, less than 9 years of age, the subject is less than 8 years of age, less than 7 years of age, less than 6 years of age, less than 5 years of age, less than 4 years of age, less than 3 years of age, less than 2 years of age, less than 1 year of age. In some embodiments, the subject is less than 18 years of age. In some embodiments, the subject is less than 17 years of age. In some embodiments, the subject is less than 16 years of age. In some embodiments, the subject is less than 15 years of age. In some embodiments, the subject is less than 14 years of age. In some embodiments, the subject is less than 13 years of age. In some embodiments, the subject is less than 12 years of age. In some embodiments, the subject is less than 11 years of age. In some embodiments, the subject is less than 10 years of age. In some embodiments, the subject is less than 9 years of age. In some embodiments, the subject is the subject is less than 8 years of age. In some embodiments, the subject is less than 7 years of age. In some embodiments, the subject is less than 6 years of age. In some embodiments, the subject is less than 5 years of age. In some embodiments, the subject is less than 4 years of age. In some embodiments, the subject is less than 3 years of age. In some embodiments, the subject is less than 2 years of age. In some embodiments, the subject is less than 1 year of age.

[0090] In some embodiments of any one of the methods provided herein, the subject is 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18) years of age. In some embodiments, the subject is 18 years of age, 17 years of age, 16 years of age, 15 years of age, 14 years of age, 13 years of age, 12 years of age, 11 years of age, 10 years of age, 9 years of age, the subject is 8 years of age, 7 years of age, 6 years of age, 5 years of age, 4 years of age, 3 years of age, 2 years of age, 1 year of age. In some embodiments, the subject is 18 years of age. In some embodiments, the subject is 17 years of age. In some embodiments, the subject is 16 years of age. In some embodiments, the subject is 15 years of age. In some embodiments, the subject is 14 years of age. In some embodiments, the subject is 13 years of age. In some embodiments, the subject is 12 years of age. In some embodiments, the subject is 11 years of age. In some embodiments, the subject is 10 years of age. In some embodiments, the subject is 9 years of age. In some embodiments, the subject is the subject is 8 years of age. In some embodiments, the subject is 7 years of age. In some embodiments, the subject is 6 years of age. In some embodiments, the subject is 5 years of age. In some embodiments, the subject is 4 years of age. In some embodiments, the subject is 3 years of age. In some embodiments, the subject is 2 years of age. In some embodiments, the subject is 1 year of age.

[0091] In some embodiments of any one of the methods provided herein, the subject is less than 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18) months of age. In some embodiments, the subject is less than 18 months of age, less than 17 months of age, less than 16 months of age, less than 15 months of age, less than 14 months of age, less than 13 months of age, less than 12 months of age, less than 11 months of age, less than 10 months of age, less than 9 months of age, the subject is less than 8 months of age, less than 7 months of age, less than 6 months of age, less than 5 months of age, less than 4 months of age, less than 3 months of age, less than 2 months of age, less than 1 month of age. In some embodiments, the subject is less than 18 months of age. In some embodiments, the subject is less than 17 months of age. In some embodiments, the subject is less than 16 months of age. In some embodiments, the subject is less than 15 months of age. In some embodiments, the subject is less than 14 months of age. In some embodiments, the subject is less than 13 months of age. In some embodiments, the subject is less than 12 months of age. In some embodiments, the subject is less than 11 months of age. In some embodiments, the subject is less than 10 months of age. In some embodiments, the subject is less than 9 months of age. In some embodiments, the subject is the subject is less than 8 months of age. In some embodiments, the subject is less than 7 months of age. In some embodiments, the subject is less than 6 months of age. In some embodiments, the subject is less than 5 months of age. In some embodiments, the subject is less than 4 months of age. In some embodiments, the subject is less than 3 months of age. In some embodiments, the subject is less than 2 months of age. In some embodiments, the subject is less than 1 month of age.

[0092] In some embodiments of any one of the methods provided herein, the subject is 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18) months of age. In some embodiments, the subject is 18 months of age, 17 months of age, 16 months of age, 15 months of age, 14 months of age, 13 months of age, 12 months of age, 11 months of age, 10 months of age, 9 months of age, the subject is 8 months of age, 7 months of age, 6 months of age, 5 months of age, 4 months of age, 3 months of age, 2 months of age, 1 month of age. In some embodiments, the subject is 18 months of age. In some embodiments, the subject is 17 months of age. In some embodiments, the subject is 16 months of age. In some embodiments, the subject is 15 months of age. In some embodiments, the subject is 14 months of age. In some embodiments, the subject is 13 months of age. In some embodiments, the subject is 12 months of age. In some embodiments, the subject is 11 months of age. In some embodiments, the subject is 10 months of age. In some embodiments, the subject is 9 months of age. In some embodiments, the subject is the subject is 8 months of age. In some embodiments, the subject is 7 months of age. In some embodiments, the subject is 6 months of age. In some embodiments, the subject is 5 months of age. In some embodiments, the subject is 4 months of age. In some embodiments, the subject is 3 months of age. In some embodiments, the subject is 2 months of age. In some embodiments, the subject is 1 month of age.

[0093] In some embodiments of any one of the methods provided herein, the subject is less than 4 (e.g., 1, 2, 3, 4) weeks of age. In some embodiments, the subject is less than 4 weeks of age, less than 3 weeks of age, less than 2 weeks of age, less than 1 week of age. In some embodiments, the subject is less than 4 weeks of age. In some embodiments, the subject is less than 3 weeks of age. In some embodiments, the subject is less than 2 weeks of age. In some embodiments, the subject is less than 1 week of age.

[0094] In some embodiments of any one of the methods provided herein, the subject is 4 (e.g., 1, 2, 3, 4) weeks of age. In some embodiments, the subject is 4 weeks of age, 3 weeks of age, 2 weeks of age, 1 week of age. In some embodiments, the subject is 5 weeks of age. In some embodiments, the subject is 4 weeks of age. In some embodiments, the subject is 3 weeks of age. In some embodiments, the subject is 2 weeks of age. In some embodiments, the subject is 1 week of age.

[0095] In some embodiments of any one of the methods provided herein, the subject is a healthy-appearing subject. As described herein, the term “healthy-appearing” refers to a subject that does not exhibit one or more symptoms of a disease, does not have an existing medical diagnosis for a disease described herein and / or is otherwise (without the methods provided herein) not expected to have the disease or set of diseases as provided herein. In some embodiments, a health-appearing subject has an undiagnosed genetic condition. In some embodiments, a health-appearing subject may have or be genetically predisposed to developing a disease.

[0096] In some embodiments of any one of the methods provided herein, the subject is a subject that exhibits one or more symptoms for any one of the diseases or conditions described herein. In some embodiments, the subject exhibits one or more symptoms for any one of the diseases or conditions described herein, but is not diagnosed with any one of the diseases or conditions described herein. For example, the subject may exhibit one or more symptoms of a developmental delay or intellectual disability.

[0097] In some embodiments of any one of the methods provided herein, the subject is one who has been identified as having a disease or having a genetic predisposition of one or more of the diseases provided herein, but is then monitored over time. Thus, in one aspect are methods whereby any one of the methods provided herein are performed repeatedly (i.e., more than once). In some embodiments, the method is repeated at a certain frequency, such as monthly, every other month, every quarter, every six months, or annually.

[0098] EXAMPLES

[0099] Example 1: Assessing genetic predisposition to a set of diseases in a subject

[0100] To assess genetic predisposition to a set of diseases in a subject a kit can be used to collect genetic material from a pediatric subject. The kit can include a cheek swab and instructions to collect a sample from the pediatric subject. The instructions may include steps according to FIG. 1. Genetic material can be collected from the sample and tested for the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases.

[0101] The results of the genetic testing can identify a variant of a gene, such as the RB 1 gene, which can suggest an increased risk of retinoblastoma. The test results can be provided to the subject. Exemplary test results are provided in FIGs. 2A-2D. If the subject is found to have an increased risk of one or more diseases in the set of diseases additional testing may be performed.

[0102] Example 2: Assessing genetic predisposition to a set of diseases including developmental delay or intellectual disability, actionable conditions for newborns and children, and unexpected death

[0103] Tests were performed in healthy-appearing or symptomatic children to assess genetic predisposition to a set of diseases or conditions. The set of diseases or conditions included over 1,000 diseases or conditions, included the following three panels. A panel for diseases or conditions associated with developmental delay or intellectual disability (Table 3). A panel for diseases or conditions associated with actionable conditions for newborns and children (Table 4). A panel for diseases or conditions associated with unexpected or sudden death

[0104] (Table 5)

[0105] Table 3: Panel of diseases or conditions associated with developmental delay or intellectual disability

[0106]

[0107]

[0108]

[0109] Table 4: Panel of diseases or conditions associated with actionable conditions for newborns and children

[0110]

[0111]

[0112] Table 5: Panel of diseases or conditions associated with unexpected or sudden death

[0113] Case study 1: A 13-year old healthy-appearing male subject was tested to assess genetic predisposition to a set of diseases through a non-invasive cheek swab. The subject was tested for all diseases or conditions, including the panels on developmental delay or intellectual disability, actionable conditions of newborn and childhood, and unexpected death.

[0114] A variant was found in the TNNI3 gene, which is associated with increased risk for hypertrophic cardiomyopathy. The TNNI3 gene is in chromosome 19 at the location: NM_000363.5(TNNI3):c.434G>A (p.Argl45Gln). No variants were detected in any of the other genes for greater than 1,000 conditions tested.

[0115] Based on the results, parents and pediatricians were provided with recommendations for next steps. The parents received genetic counseling, which recommended screening siblings for the TNNI3 gene as well. It was also recommended that the subject see a pediatric cardiologist. The cardiologist conducted a clinical exam, EKG and echocardiogram that were all normal. The cardiologist cleared the subject to continue normal activities including sports.

[0116] The subject will follow up with the cardiologist in 2 years. If the subject develops any shortness of breath, chest pain, fatigue, or other worrisome symptoms, the subject will return to the pediatrician and cardiologist for additional evaluation.

[0117] Regular visits to the cardiologist will prevent sudden cardiac death as medications and treatments can be started pre-emptively if abnormalities are found prior to development of symptoms. The first symptom of hypertrophic cardiomyopathy is often death. Therefore, screening the healthy-appearing subject prevented potential sudden death.

[0118] Case study 2: A4-month old healthy-appearing male subject was tested to assess genetic predisposition to a set of diseases through a non-invasive cheek swab. The subject had an older male sibling with a developmental delay and the subject’s parents wanted to take pre-emptive action, if needed. The subject was tested for all diseases or conditions, including the panels on developmental delay, actionable conditions of newborn and childhood, and unexpected death. Based on the screening, a report was provided to the subject’s parents and pediatrician. It was determined that all of the tested conditions were within normal limits and the male subject had no increased risk for the tested genetic diseases or conditions. There was no increased risk for any diseases or conditions tested, and early interventions were not recommended. The pediatrician did not need to order additional tests or interventions.

[0119] Caste study 3: A4-year old male subject with gross motor, fine motor, and language delay was tested to assess genetic predisposition to a set of diseases through a non-invasive cheek swab.

[0120] Based on the screening, a report was provided to the subject’s parents and pediatrician. It was determined that all of the tested conditions were within normal limits and the male subject had no increased risk for the tested genetic diseases or conditions. There was no increased risk for any diseases or conditions tested, and early interventions were not recommended. The pediatrician did not need to order additional tests or interventions. The subject continued to receive occupational therapy for his developmental delays.

[0121] T able 1. Exemplary diseases, genes and genetic variants tested

[0122]

[0123]

[0124]

[0125]

[0126]

[0127]

[0128]

[0129]

[0130]

[0131]

[0132]

[0133] NM_177438.3(DICERl):c.3535_3538del (p.Serl l79fs) NM_177438.3(DICERl):c.4405_4406del (p.Leul469fs) NM_177438.3(DICERl):c.2437-2A>G NM_177438.3(DICERl):c.3007C>T (p.Argl003Ter) NM_177438.3(DICERl):c.2651-2A>G NM_177438.3(DICERl):c.4130del (p.Prol377fs) NM_177438.3(DICERl):c.2233C>T (p.Arg745Ter) NM_177438.3(DICERl):c.996C>A (p.Tyr332Ter) NM_177438.3(DICERl):c.745C>T (p.Gln249Ter) NM_177438.3(DICERl):c.735-l_741delinsA

[0134] NM_177438.3(DICERl):c.629T>G (p.Leu210Ter) NM_177438.3(DICERl):c.5394del (p.Glul799fs) NM_177438.3(DICERl):c.5299del (p.Hisl767fs) NM_177438.3(DICERl):c.5251_5255del (p.Lys 175 Ifs) NM_177438.3(DICERl):c.5194dup (p.Leul732fs) NM_177438.3(DICERl):c.5123G>A (p.Glyl708Glu)

[0135] NM_177438.3(DICERl):c.5096-498_5364+356del

[0136] NM_177438.3(DICERl):c.5095+lG>C

[0137] NM_177438.3(DICERl):c.5053C>T (p.Glnl685Ter) NM_177438.3(DICERl):c.4960_4961dup (p.Aspl654fs) NM_177438.3(DICERl):c.4626del (p.Glnl542fs) NM_177438.3(DICERl):c.4621A>T (p.Lysl541Ter) NM_177438.3(DICERl):c.4605_4606del (p.Cysl535fs) NM_177438.3(DICERl):c.4517G>A (p.Trpl506Ter)

[0138] NM_177438.3(DICERl):c.4511del (p.Serl504fs) NM_177438.3(DICERl):c.4426_4427insT (p.Aspl476fs) NM 177438.3(DICERl):c.4407 4408del (p.Prol471fs) NM_177438.3(DICERl):c.4309_4312del (p.Aspl437fs) NM_177438.3(DICERl):c.4190G>A (p.Trpl397Ter) NM_177438.3(DICERl):c.3875_3878del (p.Prol292fs)

[0139] NM_177438.3(DICERl):c.3777dup (p.Vall260fs) NM_177438.3(DICERl):c.3726C>A (p.Tyrl242Ter) NM_177438.3(DICERl):c.3676G>T (p.Glul226Ter) NM_177438.3(DICERl):c.3658C>T (p.Glnl220Ter) NM_177438.3(DICERl):c.3589del (p.Cysl l97fs) NM_177438.3(DICERl):c.3579_3580del (p.Asnll93fs)

[0140] NM_177438.3(DICERl):c.3540C>A (p.Tyrll80Ter) NM_177438.3(DICERl):c.3538_3539del (p.Tyrl l80fs) NM_177438.3(DICERl):c.3534_3535insAA (p.Serll79fs) NM_177438.3(DICERl):c.3515_3525delmsA (p.Leull72fs) NM_177438.3(DICERl):c.3300del (p.Lys 1 lOOfs) NM_177438.3(DICERl):c.3277_3280del (p.Prol092_Asnl093insTer)

[0141] NM_177438.3(DICERl):c.3273C>G (p.TyrlO91Ter) NM_177438.3(DICERl):c.3175dup (p.TyrlO59fs) NM_177438.3(DICERl):c.3135 3137delinsTGAACTCATG (p.SerlO46fs) NM_177438.3(DICERl):c.2888_2889del (p.Pro963fs) NM_177438.3(DICERl):c.2867_2869delmsAA (p.Pro956fs) NM_177438.3(DICERl):c.2863del (p.Thr955fs)

[0142] NM_177438.3(DICERl):c.2749G>T (p.Glu917Ter) NM_177438.3(DICERl):c.2392dup (p.Thr798fs) NM_177438.3(DICERl):c.2247C>A (p.Tyr749Ter) NM_177438.3(DICERl):c.2243_2244insACTA (p.Cys748Ter) NM_177438.3(DICERl):c.2243_2244delmsAA (p.Cys748Ter) NM_177438.3(DICERl):c.2158_2159del (p.Thr719_Val720insTer)

[0143] NM_177438.3(DICERl):c.2062C>T (p.Arg688Ter) NM_177438.3(DICERl):c.2040+lG>T NM_177438.3(DICERl):c.l966C>T (p.Arg656Ter) NM_177438.3(DICERl):c.l910dup (p.Tyr637Ter) NM_177438.3(DICERl):c.l907+ldel

[0144]

[0145]

[0146] NM_001267550.2(TTN):c.96260_96279dup

[0147] NM_001267550.2(TTN):c.96233_96236delinsCCT

[0148] NM_001267550.2(TTN):c.96697C>T

[0149] NM_001267550.2(TTN):c.69999del

[0150] NM_001267550.2(TTN):c.69571_69592dup

[0151] NM_001267550.2(TTN):c.70501G>T

[0152] NM_001267550.2(TTN):c.69923_69926dup

[0153] NM_001267550.2(TTN):c.70571_70572dup

[0154] NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC

[0155] NM_001267550.2(TTN):c.70000del

[0156] NM_001267550.2(TTN):c.70051C>T

[0157] NM_001267550.2(TTN):c.70162C>T

[0158] NM_001267550.2(TTN):c.67906_67909dup

[0159] NM 001267550.2(TTN):c.68224+ 2T>C LOG 126806423 |TTN|TTN- AS 1 TTN-related

[0160] NM 001267550.2(TTN):c.68224+ 1G>A LOC126806423|TTN|TTN-AS1 Dilated

[0161] NM_001267550.2(TTN):c.68286_68289dup

[0162] NM_001267550.2(TTN):c.67636+2T>C LOG 126806423 |TTN|TTN- AS 1 Dilated

[0163] NM_001267550.2(TTN):c.67609del

[0164] NM_001267550.2(TTN):c.68242_68243dup

[0165] NM_001267550.2(TTN):c.68308del

[0166] NM_001267550.2(TTN):c.67421del

[0167] NM_001267550.2(TTN):c.67495C>T

[0168] NM_001267550.2(TTN):c.59451dup

[0169] NM_001267550.2(TTN):c.59767C>T

[0170] NM_001267550.2(TTN):c.59466dup

[0171] NM_001267550.2(TTN):c.59848C>T

[0172] NM 001267550.2(TTN):c.59926+ 1G>A LOC126806424|TTN|TTN-AS1 not

[0173] NM_001267550.2(TTN):c.59763del

[0174] NM_001267550.2(TTN):c.59460G>A

[0175] NM_001267550.2(TTN):c.59693G>A

[0176] NM_001267550.2(TTN):c.59977G>T

[0177] NM_001267550.2(TTN):c.59402del

[0178] NM_001267550.2(TTN):c.59351_59352del

[0179] NM_001267550.2(TTN):c.59411dup

[0180] NM_001267550.2(TTN):c.60121C>T

[0181] NM_001267550.2(TTN):c.59353G>T

[0182] NM_001267550.2(TTN):c.53026_53027del

[0183] NM_001267550.2(TTN):c.52847G>A

[0184] NM_001267550.2(TTN):c.52975C>T

[0185] NM_001267550.2(TTN):c.52903C>T

[0186] NM_001267550.2(TTN):c.53206C>T

[0187] NM_001267550.2(TTN):c.52924_52930dup

[0188] NM_001267550.2(TTN):c.52601T>A

[0189] NM_001267550.2(TTN):c.53259del

[0190] NM_001267550.2(TTN):c.52576_52603del

[0191] NM_001267550.2(TTN):c.52731_52732del

[0192] NM_001267550.2(TTN):c.53393del

[0193] NM_001267550.2(TTN):c.53355G>A

[0194] NM_001267550.2(TTN):c.52999C>T

[0195] NM_001267550.2(TTN):c.48638+ Idel LOC126806426|TTN|TTN-AS1 not

[0196] NM_001267550.2(TTN):c.48760G>T

[0197] NM 001267550.2(TTN):c.48760+ 1G>T LOC126806426|TTN|TTN-AS1 Dilated

[0198] NM_001267550.2(TTN):c.49101_49102del

[0199] NM_001267550.2(TTN):c.49171C>T

[0200] NM_001267550.2(TTN):c.49004dup

[0201] NM_001267550.2(TTN):c.48863del

[0202] NM_001267550.2(TTN):c.45156T>A

[0203] NM_001267550.2(TTN):c.45307C>T

[0204] NM_001267550.2(TTN):c. 106157dup NM_001267550.2(TTN):c. 106189OT

[0205] NM_001267550.2(TTN):c. 106160&G

[0206] NM_001267550.2(TTN):c.l06114_106115dup

[0207] NM_001267550.2(TTN):c. 106049del

[0208] NM_001267550.2(TTN):c. 106137dup

[0209] NM_001267550.2(TTN):c. 106019del

[0210] NM_001267550.2(TTN):c. 105747_105766del

[0211] NM_001267550.2(TTN):c. 105791dup

[0212] NM_001267550.2(TTN):c. 105810dup

[0213] NM_001267550.2(TTN):c. 105520del

[0214] NM_001267550.2(TTN):c. 105161del

[0215] NM_001267550.2(TTN):c.97417del

[0216] NM_001267550.2(TTN):c.47486_47498del

[0217] NM_001267550.2(TTN):c.81988C>T

[0218] NM_001267550.2(TTN):c. 106953OG

[0219] NM_001267550.2(TTN):c.54999dup

[0220] NM_001267550.2(TTN):c.73975_74029del

[0221] NM_001267550.2(TTN):c.87238del

[0222] NM_001267550.2(TTN):c.55425dup

[0223] NM_001267550.2(TTN):c.89275_89278del

[0224] NM_001267550.2(TTN):c.86441del

[0225] NM_001267550.2(TTN):c.89077C>T

[0226] NM_001267550.2(TTN):c. 103814dup

[0227] NM_001267550.2(TTN):c.90657del

[0228] NM_001267550.2(TTN):c.61977del

[0229] NM_001267550.2(TTN):c.29863C>T

[0230] NM_001267550.2(TTN):c.77884del

[0231] NM_001267550.2(TTN):c.89178C>G

[0232] NM_001267550.2(TTN):c.64397-2del TTN|TTN-AS1 not

[0233] NM_001267550.2(TTN):c.73750C>T

[0234] NM_001267550.2(TTN):c.85612_85619del

[0235] NM_001267550.2(TTN):c.90495G>A

[0236] NM_001267550.2(TTN):c.75568del

[0237] NM_001267550.2(TTN):c.98923C>T

[0238] NM_001267550.2(TTN):c.93735del

[0239] NM_001267550.2(TTN):c.97972C>T

[0240] NM_001267550.2(TTN):c.85494G>A

[0241] NM_001267550.2(TTN):c.61614del

[0242] NM_001267550.2(TTN):c.49793G>A

[0243] NM_001267550.2(TTN):c.92298G>A

[0244] NM_001267550.2(TTN):c.58474_58480del

[0245] NM_001267550.2(TTN):c.82470G>A

[0246] NM_001267550.2(TTN):c.87834_87837del

[0247] NM_001267550.2(TTN):c.64245G>A

[0248] NM_001267550.2(TTN):c.87295_87296insT

[0249] NM_001267550.2(TTN):c.98077_98080del

[0250] NM_001267550.2(TTN):c.81357G>A

[0251] NM_001267550.2(TTN):c.62966del

[0252] NM_001267550.2(TTN):c.89053A>T

[0253] NM_001267550.2(TTN):c.69379C>T

[0254] NM_001267550.2(TTN):c.48142del

[0255] NM_001267550.2(TTN):c.98810_98811del

[0256] NM_001267550.2(TTN):c.58117dup

[0257] NM_001267550.2(TTN):c.79639C>T

[0258] NM_001267550.2(TTN):c.89040G>A

[0259] NM_001267550.2(TTN):c.50467_50468del

[0260] NM_001267550.2(TTN):c. 13732G>T

[0261] NM_001267550.2(TTN):c.94805_94806del

[0262] NM_001267550.2(TTN):c.57854del NM_001267550.2(TTN):c.56287_56288dup

[0263] NM_001267550.2(TTN):c.55403dup

[0264] NM_001267550.2(TTN):c.54652C>T

[0265] NM_001267550.2(TTN):c.54427del

[0266] NM_001267550.2(TTN):c.54023_54024insC

[0267] NM_001267550.2(TTN):c.53616del

[0268] NM_001267550.2(TTN):c.51965dup

[0269] NM_001267550.2(TTN):c.50375_50378del

[0270] NM 001267550.2(TTN):c.49648+ 1G>T TTN|TTN-AS1 Cardiovascular

[0271] NM_001267550.2(TTN):c.49500C>A

[0272] NM_001267550.2(TTN):c.48502del

[0273] NM_001267550.2(TTN):c.48248_48251del

[0274] NM_001267550.2(TTN):c. 14301OA

[0275] NM_001267550.2(TTN):c.l01992_101993del

[0276] NM_001267550.2(TTN):c.98072del

[0277] NM_001267550.2(TTN):c.95829_95830insG

[0278] NM_001267550.2(TTN):c.94562C>G

[0279] NM_001267550.2(TTN):c.91192del

[0280] NM_001267550.2(TTN):c.87515dup

[0281] NM_001267550.2(TTN):c.83747_83751del

[0282] NM_001267550.2(TTN):c.82186dup

[0283] NM_001267550.2(TTN):c.78348dup

[0284] NM_001267550.2(TTN):c.77120_77121del

[0285] NM_001267550.2(TTN):c.73200T>A

[0286] NM_001267550.2(TTN):c.66846T>G

[0287] NM_001267550.2(TTN):c.65040G>A

[0288] NM_001267550.2(TTN):c.64810C>T

[0289] NM_001267550.2(TTN):c.62131_62135dup

[0290] NM_001267550.2(TTN):c. 106773_106780del

[0291] NM_001267550.2(TTN):c. l00766-lG>T TTN|TTN-AS1 Dilated

[0292] NM_001267550.2(TTN):c.57545-2A>G TTN|TTN-AS1 Desmin-related

[0293] NM_001267550.2(TTN):c.77493G>A

[0294] NM_001267550.2(TTN):c.95341C>T

[0295] NM_001267550.2(TTN):c.60993_60994del

[0296] NM_001267550.2(TTN):c.38876-2A>C TTN not

[0297] NM_001267550.2(TTN):c.51444del

[0298] NM_001267550.2(TTN):c.5477del

[0299] NM_001267550.2(TTN):c.56759G>A

[0300] NM_001267550.2(TTN):c.87939T>G

[0301] NM_001267550.2(TTN):c.97813C>T

[0302] NM_001267550.2(TTN):c.21961G>A

[0303] NM_001267550.2(TTN):c.47487_47488del

[0304] NM_001267550.2(TTN):c.95266del

[0305] NM_001267550.2(TTN):c.72130_72133del

[0306] NM_001267550.2(TTN):c.94991T>A

[0307] NM_001267550.2(TTN):c.84063_84066del

[0308] NM_001267550.2(TTN):c.81758del

[0309] NM_001267550.2(TTN):c.58581G>A

[0310] NM_001267550.2(TTN):c.80380C>T

[0311] NM_001267550.2(TTN):c.47885dup

[0312] NM_001267550.2(TTN):c.84819del

[0313] NM_001267550.2(TTN):c.90628del

[0314] NM_001267550.2(TTN):c.60455_60456del

[0315] NM_001267550.2(TTN):c.61394_61395del

[0316] NM_001267550.2(TTN):c.84643A>T

[0317] NM_001267550.2(TTN):c.85408_85409del

[0318] NM_001267550.2(TTN):c.51203_51224dup

[0319] NM_001267550.2(TTN):c.97647_97663dup

[0320] NM_001267550.2(TTN):c.95845C>T NM_001267550.2(TTN):c.6913 Idel

[0321] NM_001267550.2(TTN):c. 1016870 A

[0322] NM_001267550.2(TTN):c.88852_88855del

[0323] NM_001267550.2(TTN):c.92236_92237del

[0324] NM_001267550.2(TTN):c.99041del

[0325] NM_001267550.2(TTN):c.76507del

[0326] NM_001267550.2(TTN):c.80386del

[0327] NM_001267550.2(TTN):c.57127del

[0328] NM_001267550.2(TTN):c.47314C>T

[0329] NM_001267550.2(TTN):c. 13592OG

[0330] NM_001267550.2(TTN):c.53918del

[0331] NM_001267550.2(TTN):c.46603C>T

[0332] NM_001267550.2(TTN):c.36640T

[0333] NM_001267550.2(TTN):c.826C>T

[0334] NM_001267550.2(TTN):c.l07224-lG>C TTN|TTN-AS1 Autosomal

[0335] NM_001267550.2(TTN):c.91920G>A

[0336] NM_001267550.2(TTN):c.91564+ 2T>C TTN|TTN-AS1 Autosomal

[0337] NM_001267550.2(TTN):c.82208C>G

[0338] NM_001267550.2(TTN):c.39974-llT>G TTN TTN-related

[0339] NM_001267550.2(TTN):c.40608del

[0340] NM_001267550.2(TTN):c.94291G>T

[0341] NM_001267550.2(TTN):c.55639C>T

[0342] NM_001267550.2(TTN):c. 16054G A

[0343] NM_001267550.2(TTN):c.59127del

[0344] NM_001267550.2(TTN):c.52233_52237del

[0345] NM_001267550.2(TTN):c. 102057del

[0346] NM_001267550.2(TTN):c.63722delmsAA

[0347] NM_001267550.2(TTN):c.93337C>T

[0348] NM_001267550.2(TTN):c.83384del

[0349] NM_001267550.2(TTN):c.88204C>T

[0350] NM_001267550.2(TTN):c.66239_66242dup

[0351] NM_001267550.2(TTN):c.55351C>T

[0352] NM_001267550.2(TTN):c.77610del

[0353] NM_001267550.2(TTN):c. 104827OT

[0354] NM_001267550.2(TTN):c.72613del

[0355] NM_001267550.2(TTN):c.72945C>G

[0356] NM_001267550.2(TTN):c.95023_95024del

[0357] NM_001267550.2(TTN):c.87734G>A

[0358] NM_001267550.2(TTN):c.l07377+lG>C TTN|TTN-AS1 Dilated

[0359] NM_001267550.2(TTN):c.76446_76447del

[0360] NM_001267550.2(TTN):c.48499C>T

[0361] NM_001267550.2(TTN):c.95992G>T

[0362] NM_001267550.2(TTN):c. 102234_102237del

[0363] NM_001267550.2(TTN):c.91097_91100del

[0364] NM_001267550.2(TTN):c.71685_71686msAAATA

[0365] NM_001267550.2(TTN):c. 103061del

[0366] NM_001267550.2(TTN):c.56572C>T

[0367] NM_001267550.2(TTN):c.54000G>A

[0368] NM_001267550.2(TTN):c.76737T>A

[0369] NM_001267550.2(TTN):c.63010G>T

[0370] NM_001267550.2(TTN):c.79717G>T

[0371] NM_001267550.2(TTN):c. 103771OT

[0372] NM_001267550.2(TTN):c.85200_85203del

[0373] NM_001267550.2(TTN):c.78588_78624dup

[0374] NM_001267550.2(TTN):c.l03043_103044msA

[0375] NM_001267550.2(TTN):c.32312-lG>A TTN Centronuclear

[0376] NM_001267550.2(TTN):c.83416C>T

[0377] NM_001267550.2(TTN):c.85150C>T

[0378] NM_001267550.2(TTN):c.50095C>T NM_001267550.2(TTN):c.64287del

[0379] NM_001267550.2(TTN):c.60579G>A

[0380] NM_001267550.2(TTN):c.92659C>T

[0381] NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC

[0382] NM_001267550.2(TTN):c.98299del

[0383] NM_001267550.2(TTN):c.54320dup

[0384] NM_001267550.2(TTN):c.76240dup

[0385] NM_001267550.2(TTN):c.72963_72964del

[0386] NM_001267550.2(TTN):c.84586_84589del

[0387] NM_001267550.2(TTN):c.50657_50660dup

[0388] NM_001267550.2(TTN):c.54811+ 1G>A TTN|TTN-AS 1 Cardiomyopathy|not

[0389] NM_001267550.2(TTN):c.69420del

[0390] NM_001267550.2(TTN):c.51958C>T

[0391] NM_001267550.2(TTN):c.l00791_100792msGTGTACCTAAA

[0392] NM_001267550.2(TTN):c.80125_80126dup

[0393] NM_001267550.2(TTN):c.57718C>T

[0394] NM_001267550.2(TTN):c.72088A>T

[0395] NM_001267550.2(TTN):c.62597del

[0396] NM_001267550.2(TTN):c.89288del

[0397] NM_001267550.2(TTN):c.56495G>A

[0398] NM_001267550.2(TTN):c.l07202_107203del

[0399] NM_001267550.2(TTN):c.87046_87049del

[0400] NM_001267550.2(TTN):c.67279C>T

[0401] NM_001267550.2(TTN):c. 107351OG

[0402] NM_001267550.2(TTN):c. 101789del

[0403] NM_001267550.2(TTN):c.57558del

[0404] NM_001267550.2(TTN):c.73828 73835del

[0405] NM_001267550.2(TTN):c.51436C>T

[0406] NM_001267550.2(TTN):c.58838del

[0407] NM_001267550.2(TTN):c. 12268C+T

[0408] NM_001267550.2(TTN):c. 104947OT

[0409] NM_001267550.2(TTN):c.82525C>T

[0410] NM_001267550.2(TTN):c.80950G>T

[0411] NM_001267550.2(TTN):c.56347+lG>A TTN|TTN-AS1 TTN-related

[0412] NM_001267550.2(TTN):c.56648-lG>A TTN|TTN-AS1 Early-onset

[0413] NM_001267550.2(TTN):c.85969A>T

[0414] NM_001267550.2(TTN):c.89222_89226del

[0415] NM_001267550.2(TTN):c.81618_86068del

[0416] NM_001267550.2(TTN):c.64318A>T

[0417] NM_001267550.2(TTN):c.66464-2A>G TTN|TTN-AS1 Autosomal

[0418] NM_001267550.2(TTN):c.70879C>T

[0419] NM_001267550.2(TTN):c.56564_56576del

[0420] NM_001267550.2(TTN):c.87705C>G

[0421] NM_001267550.2(TTN):c.77145dup

[0422] NM_001267550.2(TTN):c.58620del

[0423] NM_001267550.2(TTN):c.88825C>T

[0424] NM_001267550.2(TTN):c.l07284C>T

[0425] NM_001267550.2(TTN):c.83830_83836delinsTCACT

[0426] NM_001267550.2(TTN):c.97555_97558dup

[0427] NM_001267550.2(TTN):c.64098del

[0428] NM_001267550.2(TTN):c.85713G>A

[0429] NM_001267550.2(TTN):c.l01943C>G

[0430] NM_001267550.2(TTN):c.85640_85652del

[0431] NM_001267550.2(TTN):c.9577C>T

[0432] NM_001267550.2(TTN):c.91544_91554del

[0433] NM_001267550.2(TTN):c.70745dup

[0434] NM_001267550.2(TTN):c.l01107C>T

[0435] NM_001267550.2(TTN):c.81650G>A

[0436] NM_001267550.2(TTN):c.70714C>T NM_001267550.2(TTN):c.93541G>T

[0437] NM_001267550.2(TTN):c.86426C>G

[0438] NM_001267550.2(TTN):c.79294C>T

[0439] NM_001267550.2(TTN):c.77147_77150del

[0440] NM_001267550.2(TTN):c.72826dup

[0441] NM_001267550.2(TTN):c.70978C>T

[0442] NM_001267550.2(TTN):c.67166_67167del

[0443] NM_001267550.2(TTN):c.66161-lG>C TTN|TTN-AS1 not

[0444] NM_001267550.2(TTN):c.64915C>T

[0445] NM_001267550.2(TTN):c.60447T>G

[0446] NM_001267550.2(TTN):c.58870C>T

[0447] NM_001267550.2(TTN):c.56598del

[0448] NM_001267550.2(TTN):c.55972C>T

[0449] NM_001267550.2(TTN):c.54067C>T

[0450] NM_001267550.2(TTN):c.51624_51654dup

[0451] NM_001267550.2(TTN):c. 102523 C>T

[0452] NM_001267550.2(TTN):c.57849del

[0453] NM_001267550.2(TTN):c.74987_74991dup

[0454] NM_001267550.2(TTN):c.60902del

[0455] NM_001267550.2(TTN):c.90370G>T

[0456] NM_001267550.2(TTN):c.95008C>T

[0457] NM_001267550.2(TTN):c.80452G>T

[0458] NM_001267550.2(TTN):c.71202dup

[0459] NM_001267550.2(TTN):c.l06375-2A>G TTN|TTN-AS1 Dilated

[0460] NM_001267550.2(TTN):c.64011C>A

[0461] NM_001267550.2(TTN):c.40626dup

[0462] NM_001267550.2(TTN):c. 13058del

[0463] NM_001267550.2(TTN):c.77933_77951del

[0464] NM_001267550.2(TTN):c.93781C>T

[0465] NM_001267550.2(TTN):c.75469C>T

[0466] NM_001267550.2(TTN):c.79141A>T

[0467] NM 001267550.2(TTN):c.89197+ 1G>C TTN|TTN-AS1 Cardiovascular

[0468] NM_001267550.2(TTN):c.81243_81261del

[0469] NM_001267550.2(TTN):c.51654C>G

[0470] NM_001267550.2(TTN):c.75663del

[0471] NM_001267550.2(TTN):c.53599G>T

[0472] NM_001267550.2(TTN):c.84056C>A

[0473] NM_001267550.2(TTN):c.79278del

[0474] NM_001267550.2(TTN):c.82895_82896del

[0475] NM_001267550.2(TTN):c.74368_74376delinsTAAG

[0476] NM_001267550.2(TTN):c.48379_48382del

[0477] NM_001267550.2(TTN):c.95469dup

[0478] NM_001267550.2(TTN):c.54809dup

[0479] NM_001267550.2(TTN):c.82594dup

[0480] NM_001267550.2(TTN):c.82193del

[0481] NM_001267550.2(TTN):c.87040C>T

[0482] NM_001267550.2(TTN):c.84365del

[0483] NM_001267550.2(TTN):c.76278G>A

[0484] NM_001267550.2(TTN):c.79793T>G

[0485] NM_001267550.2(TTN):c.79603C>T

[0486] NM_001267550.2(TTN):c.86363G>A

[0487] NM_001267550.2(TTN):c.78404G>A

[0488] NM_001267550.2(TTN):c. 100587G+A

[0489] NM_001267550.2(TTN):c.97114dup

[0490] NM_001267550.2(TTN):c. 13117OT

[0491] NM_001267550.2(TTN):c.69256_69257dup

[0492] NM_001267550.2(TTN):c.78749del

[0493] NM_001267550.2(TTN):c.84482del

[0494] NM_001267550.2(TTN):c.52021C>T NM_001267550.2(TTN):c.72828_72831dup

[0495] NM_001267550.2(TTN):c. 102214T+C

[0496] NM_001267550.2(TTN):c.86290_86303delinsA

[0497] NM_001267550.2(TTN):c.56792G>A

[0498] NM_001267550.2(TTN):c.86335C>T

[0499] NM_001267550.2(TTN):c.82273C>T

[0500] NM_001267550.2(TTN):c.90760G>T

[0501] NM_001267550.2(TTN):c.66769+ 2T>A TTN|TTN-AS1 Dilated

[0502] NM_001267550.2(TTN):c.76654C>T

[0503] NM_001267550.2(TTN):c.89861G>A

[0504] NM_001267550.2(TTN):c.94816C>T

[0505] NM_001267550.2(TTN):c.68885_68888dup

[0506] NM_001267550.2(TTN):c.84255C>A

[0507] NM_001267550.2(TTN):c.60733C>T

[0508] NM_001267550.2(TTN):c.56806C>T

[0509] NM_001267550.2(TTN):c.85514T>G

[0510] NM_001267550.2(TTN):c.76865G>A

[0511] NM_001267550.2(TTN):c.80365_80432del

[0512] NM_001267550.2(TTN):c.87554G>A

[0513] NM_001267550.2(TTN):c.100825 C>T

[0514] NM_001267550.2(TTN):c.l04653C>T

[0515] NM_001267550.2(TTN):c.l04413C>T

[0516] NM_001267550.2(TTN):c.93396_93400del

[0517] NM_003319.4(TTN):c.63060_63061del

[0518] NM_001267550.2(TTN):c.78197dup

[0519] NM_001267550.2(TTN):c.47629C>T

[0520] NM_001267550.2(TTN):c.51459_51462del

[0521] NM 001267550.2(TTN):c.54190+ 1G>A TTN|TTN-AS1 Dilated

[0522] NM_001267550.2(TTN):c.91798_91799insT

[0523] NM_001267550.2(TTN):c.82036C>T

[0524] NM_001267550.2(TTN):c.85544T>G

[0525] NM_001267550.2(TTN):c. 101019_101020dup

[0526] NM_001267550.2(TTN):c.64688dup

[0527] NM_001267550.2(TTN):c.62129dup

[0528] NM_001267550.2(TTN):c.49413G>A

[0529] NM_001267550.2(TTN):c.69211_69214delinsTCT

[0530] NM_001267550.2(TTN):c.47494C>T

[0531] NM_001267550.2(TTN):c.9263 Idup

[0532] NM_001267550.2(TTN):c.47137_47138del

[0533] NM_001267550.2(TTN):c.81340_81344del

[0534] NM_001267550.2(TTN):c.89017C>T

[0535] NM_001267550.2(TTN):c.73508del

[0536] NM_001267550.2(TTN):c.99496G>T

[0537] NM_001267550.2(TTN):c.76393_76396del

[0538] NM_001267550.2(TTN):c. 106954OT

[0539] NM_001267550.2(TTN):c.67349- 2A>C TTN|TTN-AS1 Tibial

[0540] NM_001267550.2(TTN):c.62722C>T

[0541] NM_001267550.2(TTN):c.97451_97452del

[0542] NM_001267550.2(TTN):c.76717C>T

[0543] NM_001267550.2(TTN):c.76179_76180msAACTTAGTGAACCAAGCCCTCCT

[0544] NM_001267550.2(TTN):c.74608del

[0545] NM_001267550.2(TTN):c.69553C>T

[0546] NM_001267550.2(TTN):c. 100446dup

[0547] NM_001267550.2(TTN):c.64688del

[0548] NM_001267550.2(TTN):c.85510G>T

[0549] NM_001267550.2(TTN):c.80494G>T

[0550] NM_003319.4(TTN):c.45637dup

[0551] NM_001267550.2(TTN):c.62909dup

[0552] NM_001267550.2(TTN):c.l01098_101099insT NM_001267550.2(TTN):c.94855C>T

[0553] NM_001267550.2(TTN):c.84376C>T

[0554] NM_001267550.2(TTN):c.83515C>T

[0555] NM_001267550.2(TTN):c.78991C>T

[0556] NM_001267550.2(TTN):c.78095_78098del

[0557] NM_001267550.2(TTN):c.74880_74883dup

[0558] NM_001267550.2(TTN):c.73109G>A

[0559] NM_001267550.2(TTN):c.61495C>T

[0560] NM_001267550.2(TTN):c.47692C>T

[0561] NM_001267550.2(TTN):c.98506C>T

[0562] NM_001267550.2(TTN):c.93166C>T

[0563] NM_001267550.2(TTN):c.89900_89903del

[0564] NM_001267550.2(TTN):c.87624C>A

[0565] NM_001267550.2(TTN):c.76383_76386del

[0566] NM_001267550.2(TTN):c.69412+lG>A TTN|TTN-AS1 Autosomal

[0567] NM_001267550.2(TTN):c.64453C>T

[0568] NM_001267550.2(TTN):c.63601C>T

[0569] NM_001267550.2(TTN):c.49346-lG>A TTN|TTN-AS1 Primary

[0570] NM_001267550.2(TTN):c. 106629del

[0571] NM_001267550.2(TTN):c. 101996G>A

[0572] NM_001267550.2(TTN):c.95415_95416+2del TTN|TTN-AS1 Primary

[0573] NM_001267550.2(TTN):c.92683C>T

[0574] NM_001267550.2(TTN):c.81262_81269del

[0575] NM_001267550.2(TTN):c.78184G>T

[0576] NM_001267550.2(TTN):c.60931C>T

[0577] NM_001267550.2(TTN):c.58732+ 2T>C TTN|TTN-AS1 Cardiomyopathy|Cardiovascular

[0578] NM_001267550.2(TTN):c.48527G>A

[0579] NM_001267550.2(TTN):c.8307_8308del

[0580] NM_001267550.2(TTN):c. 12870dup

[0581] NM_001267550.2(TTN):c.79684C>T

[0582] NM_001267550.2(TTN):c.68437G>T

[0583] NM_001267550.2(TTN):c.58259G>A

[0584] NM_001267550.2(TTN):c.42486_42489del

[0585] NM_001267550.2(TTN):c.99034A>T

[0586] NM_001267550.2(TTN):c.97523_97527del

[0587] NM_001267550.2(TTN):c.81202del

[0588] NM_001267550.2(TTN):c.56853del

[0589] NM_001267550.2(TTN):c.51833_51848del

[0590] NM_001267550.2(TTN):c.89280T>A

[0591] NM_001267550.2(TTN):c.86116C>T

[0592] NM_001267550.2(TTN):c.75328C>T

[0593] NM_001267550.2(TTN):c.63025C>T

[0594] NM_001267550.2(TTN):c. 13943_13947dup

[0595] NM_001267550.2(TTN):c.54166C>T

[0596] NM_001267550.2(TTN):c.97129_97130dup

[0597] NM_001267550.2(TTN):c.95770del

[0598] NM_001267550.2(TTN):c.94103_94107del

[0599] NM_001267550.2(TTN):c.91875del

[0600] NM_001267550.2(TTN):c.90653_90654del

[0601] NM_001267550.2(TTN):c.89270del

[0602] NM_001267550.2(TTN):c.89006dup

[0603] NM_001267550.2(TTN):c.87355del

[0604] NM_001267550.2(TTN):c.86387_86391del

[0605] NM_001267550.2(TTN):c.83064_83073del

[0606] NM_001267550.2(TTN):c.80584del

[0607] NM_001267550.2(TTN):c.79806_79809del

[0608] NM_001267550.2(TTN):c.78855_78858del

[0609] NM_001267550.2(TTN):c.77646_77662delinsAGA

[0610] NM_001267550.2(TTN):c.77177del NM_001267550.2(TTN):c.77100dup

[0611] NM_001267550.2(TTN):c.75138_75141del

[0612] NM_001267550.2(TTN):c.72848_72849del

[0613] NM_001267550.2(TTN):c.71980_71986delinsTA

[0614] NM_001267550.2(TTN):c.6553 Idel

[0615] NM_001267550.2(TTN):c.64680dup

[0616] NM_001267550.2(TTN):c.64249_64253dup

[0617] NM_001267550.2(TTN):c.54112del

[0618] NM_001267550.2(TTN):c.52307_52310dup

[0619] NM_001267550.2(TTN):c.50134 50137dup

[0620] NM 001267550.2(TTN):c.48015 48016del

[0621] NM_001267550.2(TTN):c. 101227OT

[0622] NM_001267550.2(TTN):c.92317C>T

[0623] NM_001267550.2(TTN):c.87751C>T

[0624] NM_001267550.2(TTN):c.86640C>G

[0625] NM_001267550.2(TTN):c.84897G>A

[0626] NM_001267550.2(TTN):c.83653G>T

[0627] NM_001267550.2(TTN):c.82240C>T

[0628] NM_001267550.2(TTN):c.81337G>T

[0629] NM_001267550.2(TTN):c.80850C>G

[0630] NM_001267550.2(TTN):c.78697G>T

[0631] NM_001267550.2(TTN):c.77437C>T

[0632] NM_001267550.2(TTN):c.75250C>T

[0633] NM_001267550.2(TTN):c.73846C>T

[0634] NM_001267550.2(TTN):c.64999C>T

[0635] NM_001267550.2(TTN):c.63625C>T

[0636] NM_001267550.2(TTN):c.61555C>T

[0637] NM_001267550.2(TTN):c.58270G>T

[0638] NM_001267550.2(TTN):c.57769C>T

[0639] NM_001267550.2(TTN):c.54560G>A

[0640] NM_001267550.2(TTN):c.52473G>A

[0641] NM_001267550.2(TTN):c.51127A>T

[0642] NM_001267550.2(TTN):c.50860A>T

[0643] NM_001267550.2(TTN):c.50296C>T

[0644] NM_001267550.2(TTN):c.50170C>T

[0645] NM_001267550.2(TTN):c.50083C>T

[0646] NM_001267550.2(TTN):c.49346-2A>T TTN|TTN-AS1 not

[0647] NM_001267550.2(TTN):c.48283C>T

[0648] NM_001267550.2(TTN):c.47479C>T

[0649] NM_001267550.2(TTN):c.42214C>T

[0650] NM_001267550.2(TTN):c. l07163_107167del

[0651] NM_001267550.2(TTN):c.88979_88985del

[0652] NM 001267550.2(TTN):c.88594+ 1G>T TTN|TTN-AS1 Dilated

[0653] NM_001267550.2(TTN):c.79162G>T

[0654] NM_001267550.2(TTN):c.60681dup

[0655] NM_001267550.2(TTN):c.90223C>T

[0656] NM 001267550.2(TTN):c.97492+ 1G>C TTN|TTN-AS1 Primary

[0657] NM_001267550.2(TTN):c.89839C>T

[0658] NM_001267550.2(TTN):c.86799 86802del

[0659] NM_001267550.2(TTN):c.49648+2del TTN|TTN-AS1 not

[0660] NM_133378.4(TTN):c.41592_41611del

[0661] NM_001267550.2(TTN):c.98134G>T

[0662] NM_001267550.2(TTN):c.81878_81879del

[0663] NM_001267550.2(TTN):c.91476T>G

[0664] NM_001267550.2(TTN):c.98528G>A

[0665] NM_001267550.2(TTN):c.72669del

[0666] NM_001267550.2(TTN):c.60399del

[0667] NM_001267550.2(TTN):c.52226_52229del

[0668] NM_001267550.2(TTN):c.53653G>T NM_001267550.2(TTN):c.62217T>A

[0669] NM_001267550.2(TTN):c.71321G>A

[0670] NM_001267550.2(TTN):c.71634del

[0671] NM_003319.4(TTN):c.53802_53817del

[0672] NM_001267550.2(TTN):c.81886del

[0673] NM_001267550.2(TTN):c.94180delinsTCTAGCAG

[0674] NM_001267550.2(TTN):c.94344_94347del

[0675] NM_001267550.2(TTN):c.95195C>T

[0676] NM_001267550.2(TTN):c.95134T>C

[0677] NM_001267550.2(TTN):c.98299_98300del

[0678] NM_001267550.2(TTN):c.93897del

[0679] NM_001267550.2(TTN):c.90587del

[0680] NM_001267550.2(TTN):c.86821+2T>A TTN|TTN-AS1 Cardiovascular

[0681] NM_001267550.2(TTN):c.81532G>T

[0682] NM_001267550.2(TTN):c.73845del

[0683] NM_001267550.2(TTN):c.71602C>T

[0684] NM_001267550.2(TTN):c.69458_69461dup

[0685] NM_001267550.2(TTN):c.66618C>A

[0686] NM_001267550.2(TTN):c.61876C>T

[0687] NM_001267550.2(TTN):c.59205del

[0688] NM_001267550.2(TTN):c.57995del

[0689] NM_001267550.2(TTN):c.57331C>T

[0690] NM 001256850. l(TTN):c.51809dup

[0691] NM_001267550.2(TTN):c.56647+lG>A TTN|TTN-AS1 Dilated

[0692] NM_001267550.2(TTN):c.54636T>G

[0693] NM_001267550.2(TTN):c.50618G>A

[0694] NM_001267550.2(TTN):c.47506C>T

[0695] NM_001267550.2(TTN):c.46782C>A

[0696] NM_001267550.2(TTN):c.15496+ 1G>A TTN Neuromuscular

[0697] NM_001267550.2(TTN):c. 107889del

[0698] NM_001267550.2(TTN):c. 107840 T>A

[0699] NM_001267550.2(TTN):c. 107867T+C

[0700] NM_001267550.2(TTN):c.l07780_107790delinsTGAAAGAAAAA

[0701] NM_001267550.2(TTN):c.76990C>T

[0702] NM_001267550.2(TTN):c.70915_70918del

[0703] NM_001267550.2(TTN):c.54514A>T

[0704] NM_001267550.2(TTN):c.77185A>T

[0705] NM_001267550.2(TTN):c.67174C>T

[0706] NM_001267550.2(TTN):c.62935G>T

[0707] NM_001267550.2(TTN):c.67279del

[0708] NM_001267550.2(TTN):c. 104861_104876del

[0709] NM_001267550.2(TTN):c. 103758_103759del

[0710] NM_001267550.2(TTN):c.71024_71027del

[0711] NM_001267550.2(TTN):c.95075dup

[0712] NM_001267550.2(TTN):c.91445_91446del

[0713] NM_001267550.2(TTN):c.50358T>A

[0714] NM_001267550.2(TTN):c.84819G>A

[0715] NM_001267550.2(TTN):c.89553del

[0716] NM_001267550.2(TTN):c.69104dup

[0717] NM_001267550.2(TTN):c.83104C>T

[0718] NM_001267550.2(TTN):c.82732A>T

[0719] NM_001267550.2(TTN):c.52009C>T

[0720] NM_001267550.2(TTN):c.51525del

[0721] NM_001267550.2(TTN):c.53743C>T

[0722] NM_001267550.2(TTN):c.49870C>T

[0723] NM_001267550.2(TTN):c.60284_60285del

[0724] NM_001267550.2(TTN):c. 100704&A

[0725] NM_001267550.2(TTN):c.57057del

[0726] NM_001267550.2(TTN):c.75546C>A NM OOO 169.3(GLA):c. 1157A>C

[0727] NM OOO 169.3(GLA):c. 1072G>A

[0728] NM_000169.3(GLA):c.982G>C

[0729] NM_000169.3(GLA):c.801+3A>G

[0730] NM_000169.3(GLA):c.661C>T

[0731] NM_000169.3(GLA):c.704C>G

[0732] NM_000169.3(GLA):c.620A>G

[0733] NM_000169.3(GLA):c.485G>A

[0734] NM_000169.3(GLA):c.469C>T

[0735] NM_000169.3(GLA):c.369+lG>A

[0736] NM_000169.3(GLA):c. 137A>G

[0737] NM_000169.3(GLA):c.41T>C

[0738] NM_000169.3(GLA):c.80del

[0739] NM_000169.3(GLA):c. l072_1074del

[0740] NM_000169.3(GLA):c.847C>T

[0741] NM_000169.3(GLA):c.801G>A

[0742] NM_000169.3(GLA):c.713G>A

[0743] NM_000169.3(GLA):c.235G>T

[0744] NM OOO 169.3(GLA):c. 1117G>A

[0745] NM_000169.3(GLA):c. 128del

[0746] NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T

[0747] NM_000169.3(GLA):c.386T>C

[0748] NM_000169.3(GLA):c.996_999del

[0749] NM OOO 169.3(GLA):c.974G>A

[0750] NM_000169.3(GLA):c.966C>G

[0751] NM_000169.3(GLA):c.959_962del

[0752] NM_000169.3(GLA):c.901C>T

[0753] NM_000169.3(GLA):c.748C>T

[0754] NM_000169.3(GLA):c.734G>A

[0755] NM_000169.3(GLA):c.677G>A

[0756] NM OOO 169.3(GLA):c.647A>G

[0757] NM_000169.3(GLA):c.548G>T

[0758] NM_000169.3(GLA):c.548-2A>G

[0759] NM_000169.3(GLA):c.334C>T

[0760] NM_000169.3(GLA):c.281G>A

[0761] NM OOO 169.3(GLA):c.242G>A

[0762] NM OOO 169.3(GLA):c. 19G>T

[0763] NM_000169.3(GLA):c. 146G>C

[0764] NM_000169.3(GLA):c. 125T>C

[0765] NM_000169.3(GLA):c. 1019_1020insA

[0766] NM_000169.3(GLA):c.613C>A

[0767] NM_000169.3(GLA):c.815A>G

[0768] NM_000169.3(GLA):c.666C>A

[0769] NM OOO 169.3(GLA):c.427G>C

[0770] NM_000169.3(GLA):c.640-801G>A

[0771] NM OOO 169.3(GLA):c. 1024C>T

[0772] NM_000169.3(GLA):c. 1025G>A

[0773] NM_000169.3(GLA):c. 1020G>A

[0774] NM_000169.3(GLA):c.983G>C

[0775] NM OOO 169.3(GLA):c.797A>T

[0776] NM_000169.3(GLA):c.791A>T

[0777] NM_000169.3(GLA):c.679C>T

[0778] NM_000169.3(GLA):c.680G>A

[0779] NM OOO 169.3(GLA):c.644A>G

[0780] NM_000169.3(GLA):c.484T>C

[0781] NM_000169.3(GLA):c. 101A>G

[0782] NM OOO 169.3(GLA):c. 118C>T

[0783] NM_000169.3(GLA):c.886A>G

[0784] NM_000169.3(GLA):c.902G>A NM_000038.6(APC):c. 1718del

[0785] NM 000038.6(APC) :c.3588_3598delinsT

[0786] NM_000038.6(APC):c.4067C>A

[0787] NM 000038.6(APC) :c.517_520del

[0788] NM_000038.6(APC):c.423-12A>G

[0789] NM_000038.6(APC):c.9590A

[0790] NM_000038.6(APC):c.3429T>A

[0791] NM 000038.6(APC) :c.3872del

[0792] NM_000038.6(APC):c.4251dup

[0793] NM_000038.6(APC):c.3646dup

[0794] NM_000038.6(APC):c.3255dup

[0795] NM_000038.6(APC):c.3164 3165del

[0796] NM_000038.6(APC):c.3787del

[0797] NM_000038.6(APC):c. 1312+3A>T

[0798] NM_000038.6(APC):c.5646_5649del

[0799] NM 000038.6(APC) :c.2618_2620delinsTG

[0800] NM_000038.6(APC):c. 1622dup

[0801] NM 000038.6(APC) :c.7144del

[0802] NM_000038.6(APC):c.688del

[0803] NM_000038.6(APC):c.6149dup

[0804] NM 000038.6(APC) :c.787 Idel

[0805] NM_000038.6(APC):c.758_759delmsT

[0806] NM 000038.6(APC) :c.5829 5830del

[0807] NM_000038.6(APC):c.7300del

[0808] NM 000038.6(APC) :c.2258del

[0809] NM_000038.6(APC):c.3349del

[0810] NM_000038.6(APC):c.2736del

[0811] NM 000038.6(APC) :c.4120G>T

[0812] NM_000038.6(APC):c. 135+1G>A

[0813] NM_000038.6(APC):c. 1256delinsTCA

[0814] NM_000038.6(APC):c.3385_3386insA

[0815] NM_000038.6(APC):c. 1369dup

[0816] NM_000038.6(APC):c.290del

[0817] NM_000038.6(APC):c.268A>T

[0818] NM_000038.6(APC):c.4222G>T

[0819] NM_000038.6(APC):c.2396_2397del

[0820] NM_000038.6(APC):c.450_483del

[0821] NM_000038.6(APC):c.2486_2487del

[0822] NM_000038.6(APC):c. 1744-1G>A

[0823] NM_000038.6(APC):c.2877_2898del

[0824] NM 000038.6(APC) :c.5155G>T

[0825] NM_000038.6(APC):c.2373_2374del

[0826] NM_000038.6(APC):c. 1743+2T>C

[0827] NM 000038.6(APC) :c. 1514del

[0828] NM_000038.6(APC):c.464_465del

[0829] NM_000038.6(APC):c.3317dup

[0830] NM_000038.6(APC):c.2050_2051del

[0831] NM_000038.6(APC):c. 1370del

[0832] NM_000038.6(APC):c. 1180 118 Idel

[0833] NM_000038.6(APC):c.646-2A>C

[0834] NM_000038.6(APC):c.423-lG>T

[0835] NM_000038.6(APC):c.422+lG>A

[0836] NM_000038.6(APC):c.399T>G

[0837] NM_000038.6(APC):c.4979_4982dup

[0838] NM_000038.6(APC):c.7570A>T

[0839] NM 000038.6(APC) :c.4199C>A

[0840] NM_000038.6(APC):c.3768dup

[0841] NM_000038.6(APC):c.3602del

[0842] NM_000038.6(APC):c. 1565dup NM_000038.6(APC):c.4063del

[0843] NM_000038.6(APC):c.909del

[0844] NM_000038.6(APC):c.3298del

[0845] NM_000038.6(APC):c.2764_2765insCT

[0846] NM_000038.6(APC):c.4879C>T

[0847] NM_000038.6(APC):c.7395_7396dup

[0848] NM_000038.6(APC):c.2010dup

[0849] NM_000038.6(APC):c.7882C>T

[0850] NM_000038.6(APC):c.2912dup

[0851] NM_000038.6(APC):c.3209dup

[0852] NM_000038.6(APC):c.2307dup

[0853] NM_000038.6(APC):c.5133del

[0854] NM 000038.6(APC) :c.7135dup

[0855] NM_000038.6(APC):c.2195del

[0856] NM_000038.6(APC):c.7780T

[0857] NM_000038.6(APC):c. 1612G>T

[0858] NM_000038.6(APC):c.4786del

[0859] NM_000038.6(APC):c.2976dup

[0860] NM_000038.6(APC):c.2932C>T

[0861] NM_000038.6(APC):c.2888_2892del

[0862] NM_000038.6(APC):c.2861T>G

[0863] NM_000038.6(APC):c.2843del

[0864] NM_000038.6(APC):c.2807del

[0865] NM_000038.6(APC):c.2777_2778dup

[0866] NM_000038.6(APC):c.2761dup

[0867] NM_000038.6(APC):c.2588dup

[0868] NM_000038.6(APC):c.2468C>G

[0869] NM_000038.6(APC):c.2448dup

[0870] NM_000038.6(APC):c.2397T>A

[0871] NM_000038.6(APC):c. 1095del

[0872] NM_000038.6(APC):c.2304del

[0873] NM_000038.6(APC):c.2255_2256del

[0874] NM_000038.6(APC):c.2240C>A

[0875] NM_000038.6(APC):c.2212A>T

[0876] NM 000038.6(APC) :c.2161G>T

[0877] NM 000038.6(APC) :c.2 lOOdup

[0878] NM_000038.6(APC):c.2010del

[0879] NM 000038.6(APC) :c. 1958+2T> A

[0880] NM_000038.6(APC):c. 1958+1G>T

[0881] NM 000038.6(APC) :c. 1880dup

[0882] NM_000038.6(APC):c. 1743+2T>A

[0883] NM_000038.6(APC):c. 1743+1G>C

[0884] NM_000038.6(APC):c. 1627-2A>T

[0885] NM 000038.6(APC) :c. 1579A>T

[0886] NM_000038.6(APC):c. 1486dup

[0887] NM_000038.6(APC):c. 1474_1487del

[0888] NM_000038.5(APC):c. 1412dupG

[0889] NM_000038.6(APC):c. 1368_1369del

[0890] NM_000038.6(APC):c.948T>A

[0891] NM_000038.6(APC):c.931_933+2delinsCA

[0892] NM_000038.6(APC):c.7928dup

[0893] NM_000038.6(APC):c.790C>T

[0894] NM_000038.6(APC):c. 1248C>A

[0895] NM_000038.6(APC):c.754del

[0896] NM_000038.6(APC):c.6919dup

[0897] NM_000038.6(APC):c.6778del

[0898] NM_000038.6(APC):c.673G>T

[0899] NM_000038.6(APC):c.6451dup

[0900] NM_000038.6(APC):c.645+lG>C NM_000038.6(APC):c.5989_5992del NM 000038.6(APC) :c.5864del NM 000038.6(APC) :c.5862del NM 000038.6(APC) :c.5854del NM 000038.6(APC) :c.556del NM_000038.6(APC):c.498_502del NM_000038.6(APC):c.4928del NM_000038.6(APC):c.4885_4895dup NM_000038.6(APC):c.4778dup NM_000038.6(APC):c.4737del NM_000038.6(APC):c.4373_4380del NM_000038.6(APC):c.4250A NM_000038.6(APC):c.4090dup NM_000038.6(APC):c.3981dup NM_000038.6(APC):c.398_399del NM 000038.6(APC) :c.3883 3886del NM_000038.6(APC):c.3856G>T NM_000038.6(APC):c.3625G>T NM_000038.6(APC):c.3586dup NM 000038.6(APC) :c.3566C>A NM_000038.6(APC):c.3468_3472del NM_000038.6(APC):c.3460G>T NM_000038.6(APC):c.3455del NM_000038.6(APC):c.3440dup NM_000038.6(APC):c.3304del NM_000038.6(APC):c.3197dup NM_000038.6(APC):c.3184_3200dup NM_000038.6(APC):c.3175 3179del

[0901] NM_000038.6(APC):c.3162_3163del NM_000038.6(APC):c.3258_3259del NM_000038.6(APC):c.6514G>T NM_000038.6(APC):c.203T>A NM_000038.6(APC):c.7904del NM_000038.6(APC):c.503del NM_000038.6(APC):c.635_636dup NM 000038.6(APC) :c.412G>T NM_000038.6(APC):c.3441C>G NM_000038.6(APC):c. 1959-1G>C NM_000038.6(APC):c.l959-7_1964del NM_000038.6(APC):c.933+2T>A NM_000038.6(APC):c. 1626+1G>T NM_000038.6(APC):c.3505_3509del NM 000038.6(APC) :c.532-2A>T NM_000038.6(APC):c.423-2A>G NM_000038.6(APC):c.254del NM_000038.6(APC):c.2493dup NM_000038.6(APC):c.2083C>T NM_000038.6(APC):c.2016_2017del NM_000038.6(APC):c.2053_2054del NM_000038.6(APC):c.457A>T NM_000038.6(APC):c.6189_6190del NM 000038.6(APC) :c.4438C>T NM_000038.6(APC):c.4383_4387del NM 000038.6(APC) :c.4192 4193del NM_000038.6(APC):c.6485_6489del

[0902] NM 000038.6(APC) :c. 1255del NM 000038.6(APC) :c.2177T>G NM_000038.6(APC):c.6282del NM_000038.6(APC):c. 1158 1159dup NM_000038.6(APC):c.7927_7928del NM 000038.6(APC) :c. 1191 1192dup NM_000038.6(APC):c. 1469_1470dup NM_000038.6(APC):c.6747dup NM_000038.6(APC):c.4906del NM_000038.6(APC):c.4510_4513del NM_000038.6(APC):c.3653del NM_000038.6(APC):c.2377C>T NM_000038.6(APC):c.3928A>T

[0903] NM_000038.6(APC):c.6944_6945del NM_000038.6(APC):c.440dup NM_000038.6(APC):c.3642del NM_000038.6(APC):c.6579del NM_000038.6(APC):c. 148_149del NM_000038.6(APC):c.6102del NM_000038.6(APC):c. 1179dup

[0904] NM_000038.6(APC):c. 1109del NM_000038.6(APC):c.6760A>T NM 000038.6(APC) :c.4691T>G NM_000038.6(APC):c.730-494C>G

[0905] NM 000038.6(APC) :c.5148 515 Idel NM 000038.6(APC) :c.5029G>T NM_000038.6(APC):c.2666_2667del NM_000038.6(APC):c.4463T>G NM_000038.6(APC):c.5154dup NM 000038.6(APC) :c.7955del NM_000038.6(APC):c. 1106T>A

[0906] NM 000038.6(APC) :c. 1571 1574dup NM_000038.6(APC):c.2544dup NM_000038.6(APC):c.3747C>A NM_000038.6(APC):c.3784del NM_000038.6(APC):c.2054G>A NM_000038.6(APC):c.6230_6236del NM_000038.6(APC):c.4525_4526del

[0907] NM_000038.6(APC):c.3817A>T NM_000038.6(APC):c.3283C>T NM_000038.6(APC):c. 1775T>G NM 000038.6(APC) :c.646- 1G>A NM_000038.6(APC):c.2684C>G NM_000038.6(APC):c.3581C>A NM_000038.6(APC):c.3133C>T

[0908] NM_000038.6(APC):c.2186del NM_000038.6(APC):c.3907C>T NM_000038.6(APC):c.4145del NM_000038.6(APC):c. 1488_1489del NM_000038.6(APC):c.4839del NM_000038.6(APC):c.7772_7773del NM_000038.6(APC):c.3252dup

[0909] NM_000038.6(APC):c.3103C>T NM_000038.6(APC):c.2868C>G

[0910] NM 000038.6(APC) :c. 1500del

[0911] NM_000038.6(APC):c.2319del NM_000038.6(APC):c.5954_5966del NM_000038.6(APC):c.3616dup NM_000038.6(APC):c.2507C>A NM_000038.6(APC):c.2590_2597del NM_000038.6(APC):c.476_488del NM 000038.6(APC) :c.838_844del NM_000038.6(APC):c. 1392dup NM 000038.6(APC) :c.537del

[0912] NM_000038.6(APC):c.423-2A>C

[0913] NM 000038.6(APC) :c.516del

[0914] NM_000038.6(APC):c.3709C>T

[0915] NM 000038.6(APC) :c. 1865dup

[0916] NM_000038.6(APC):c.5409_5410del

[0917] NM 000038.6(APC) :c.201 Idel

[0918] NM_000038.6(APC):c.4333dup

[0919] NM_000038.6(APC):c.3724C>T

[0920] NM 000038.6(APC) :c. 1958+2T>G

[0921] NM_000038.6(APC):c.3688del

[0922] NM_000038.6(APC):c.6764del

[0923] NM_000038.6(APC):c.6312_6321del

[0924] NM_000038.6(APC):c. 14O9-1G>C

[0925] NM 000038.6(APC) :c. 1549- 1G>T

[0926] NM_000038.6(APC):c.2928_2929del

[0927] NM_000038.6(APC):c.2893_2896del

[0928] NM_000038.6(APC):c.933G>C

[0929] NM_000038.6(APC):c. 1908 1909dup

[0930] NM 000038.6(APC) :c.3875 3882delins AGATGAAATAGGATGTAAGCA

[0931] NM_000038.6(APC):c.3224dup

[0932] NM_000038.6(APC):c.2555T>A

[0933] NM_000038.6(APC):c.2006T>G

[0934] NM_000038.6(APC):c.3214del

[0935] NM 000038.6(APC) :c.1863 1866del

[0936] NM_000038.6(APC):c. 1720G>T

[0937] NM 000038.6(APC) :c.219del

[0938] NM_000038.6(APC):c.2306_2307delinsC

[0939] NM 000038.6(APC) :c.4174del

[0940] NM_000038.6(APC):c. 1693G>T

[0941] NM_000038.6(APC):c.4897delinsTG

[0942] NM_000038.6(APC):c.2211C>G

[0943] NM_000038.6(APC):c.2793_2796del

[0944] NM_000038.6(APC):c.4700C>G

[0945] NM_000038.6(APC):c.5432C>G

[0946] NM_000038.6(APC):c. 1153dup

[0947] NM_000038.6(APC):c.4655_4656del

[0948] NM_000038.6(APC):c.7926_7929del

[0949] NM 000038.6(APC) :c.578 Idel

[0950] NM_000038.6(APC):c.4466T>G

[0951] NM_000038.6(APC):c.7016_7076del

[0952] NM_000038.6(APC):c.6344T>A

[0953] NM_000038.6(APC):c.3311C>A

[0954] NM_000038.6(APC):c.2057del

[0955] NM_000038.6(APC):c.7844_7847del

[0956] NM 000038.6(APC) :c.5834del

[0957] NM_000038.6(APC):c.3556_3560del

[0958] NM_000038.6(APC):c.2387_2388del

[0959] NM_000038.6(APC):c.3618dup

[0960] NM_000038.6(APC):c.2211C>A

[0961] NM_000038.6(APC):c.3734del

[0962] NM_000038.6(APC):c. 1994T>G

[0963] NM_000038.6(APC):c.203del

[0964] NM 000038.6(APC) :c. 139 Idup

[0965] NM_000038.6(APC):c.477C>A

[0966] NM_000038.6(APC):c.3329C>G

[0967] NM_000038.6(APC):c. 1032T>A

[0968] NM_000038.6(APC):c.6676C>T

[0969] NM_000038.6(APC):c.7513C>T NM_000038.6(APC):c.3443_3444del

[0970] NM 000038.6(APC) :c.559del

[0971] NM_000038.6(APC):c.3165 3168del

[0972] NM_000038.6(APC):c.607del

[0973] NM_000038.6(APC):c.531+lG>A

[0974] NM 000038.6(APC) :c.530del

[0975] NM_000038.6(APC):c.3379C>T

[0976] NM 000038.6(APC) :c.875del

[0977] NM_000038.6(APC):c.3224del

[0978] NM 000038.6(APC) :c.5101OT

[0979] NM_000038.6(APC):c.5185_5188del

[0980] NM_000038.6(APC):c.3638C>G

[0981] NM_000038.6(APC):c. 1268G>A

[0982] NM_000038.6(APC):c.3839del

[0983] NM_000038.6(APC):c.3225T>A

[0984] NM 000038.6(APC) :c.3845C>G

[0985] NM_000038.6(APC):c.4760C>A

[0986] NM_000038.6(APC):c.2926del

[0987] NM_000038.6(APC):c. 1042del

[0988] NM_000038.6(APC):c.7798 780 Idel

[0989] NM_000038.6(APC):c.739C>T

[0990] NM_000038.6(APC):c.7395_7398del

[0991] NM_000038.6(APC):c.7114C>T

[0992] NM_000038.6(APC):c.6742A>T

[0993] NM_000038.6(APC):c.6623_6627del

[0994] NM_000038.6(APC):c.6555_6559del

[0995] NM_000038.6(APC):c.4604dup

[0996] NM_000038.6(APC):c.4508del

[0997] NM_000038.6(APC):c.423-3_456del

[0998] NM_000038.6(APC):c.3925G>T

[0999] NM 000038.6(APC) :c.3892dup

[1000] NM_000038.6(APC):c.3769G>T

[1001] NM_000038.6(APC):c.3385_3386del

[1002] NM_000038.6(APC):c.3367C>T

[1003] NM_000038.6(APC):c.3336_3340del

[1004] NM_000038.6(APC):c.3268C>T

[1005] NM_000038.6(APC):c.933+829A>G

[1006] NM_000038.6(APC):c.933+2T>G

[1007] NM 000038.6(APC) :c.3121C>T

[1008] NM_000038.6(APC):c.3000C>A

[1009] NM_000038.6(APC):c.2828C>G

[1010] NM_000038.6(APC):c.277del

[1011] NM 000038.6(APC) :c.268 l_2683delinsGTATG

[1012] NM_000038.6(APC):c. 1624C>T

[1013] NM 000038.6(APC) :c. 1529 1530del

[1014] NM_000038.6(APC):c. 145 A>T

[1015] NM_000038.6(APC):c. 1180C>T

[1016] NM_000038.6(APC):c.3366_3369del

[1017] NM_000038.6(APC):c.4203dup

[1018] NM_000038.6(APC):c.2939_2940del

[1019] NM_000038.6(APC):c. 1229del

[1020] NM_000038.6(APC):c. 1600A>T

[1021] NM_000038.6(APC):c.3189 3192del

[1022] NM 000038.6(APC) :c.489 l_4894del

[1023] NM_000038.6(APC):c.6395C>G

[1024] NM_000038.6(APC):c.3793_3794insCTT

[1025] NM_000038.6(APC):c.3935del

[1026] NM_000038.6(APC):c.7432del

[1027] NM 000038.6(APC) :c. 186 Idup NM_000038.6(APC):c. 1979del

[1028] NM_000038.6(APC):c.2336del

[1029] NM_000038.6(APC):c.4583_4587del

[1030] NM 000038.6(APC) :c. 156del

[1031] NM_000038.6(APC):c.7678C>T

[1032] NM_000038.6(APC):c.2536del

[1033] NM_000038.6(APC):c.7489dup

[1034] NM OOl 127511.3(APC):c.-192_-191delinsTAGCAAGGG

[1035] NM_000038.6(APC):c.2844_2847dup

[1036] NM_000038.6(APC):c. 1753del

[1037] NM_000038.6(APC):c.4501del

[1038] NM_000038.6(APC):c.l241_1246delinsA

[1039] NM_000038.6(APC):c.516dup

[1040] NM_000038.6(APC):c.2587_2600del

[1041] NM_000038.6(APC):c.7803_7807del

[1042] NM_000038.6(APC):c.4006A>T

[1043] NM 000038.6(APC) :c.569 Idel

[1044] NM_000038.6(APC):c.3311C>G

[1045] NM_000038.6(APC):c. 1993_1994del

[1046] NM_000038.6(APC):c.4240del

[1047] NM_000038.6(APC):c.4326del

[1048] NM_000038.6(APC):c.7120T

[1049] NM_000038.6(APC):c.4397del

[1050] NM 000038.6(APC) :c.878del

[1051] NM_000038.6(APC):c.4260del

[1052] NM_000038.6(APC):c.6640T

[1053] NM_000038.6(APC):c.l958+l_1958+2dup

[1054] NM_000038.6(APC):c.3730C>T

[1055] NM_000038.6(APC):c.7709C>G

[1056] NM_000038.6(APC):c.3317del

[1057] NM 000038.6(APC) :c. 1341T>A

[1058] NM_000038.6(APC):c.636dup

[1059] NM_000038.6(APC):c.4638_4639del

[1060] NM_000038.6(APC):c.2589C>A

[1061] NM_000038.6(APC):c.2385_2386del

[1062] NM 000038.6(APC) :c. 1886T>A

[1063] NM 000038.6(APC) :c. 1594OT

[1064] NM_000038.6(APC):c.3670_3671dup

[1065] NM_000038.6(APC):c.2466_2467insA

[1066] NM 000038.6(APC) :c.5507del

[1067] NM_000038.6(APC):c.3203C>A

[1068] NM 000038.6(APC) :c. 1829del

[1069] NM_000038.6(APC):c. 1270OT

[1070] NM 000038.6(APC) :c.6011 6012insTT

[1071] NM_000038.6(APC):c.2884del

[1072] NM 000038.6(APC) :c.4670_467 Idel

[1073] NM_000038.6(APC):c.989del

[1074] NM_000038.6(APC):c.4463dup

[1075] NM_000038.6(APC):c.7498C>T

[1076] NM_000038.6(APC):c.2485del

[1077] NM_000038.6(APC):c.2652dup

[1078] NM_000038.6(APC):c.7930_7934del

[1079] NM_000038.6(APC):c.3488_3492del

[1080] NM_000038.6(APC):c.2299C>T

[1081] NM_000038.6(APC):c.2660A

[1082] NM 000038.6(APC) :c.5820dup

[1083] NM_000038.6(APC):c.6150_6151del

[1084] NM_000038.6(APC):c.5659_5663del

[1085] NM_000038.6(APC):c. 1530dup NM_000038.6(APC):c.7932_7935del

[1086] NM 000038.6(APC) :c.5572OT

[1087] NM_000038.6(APC):c.2656C>T

[1088] NM_000038.6(APC):c.3164 3168del

[1089] NM_000038.6(APC):c.4682del

[1090] NM_000038.6(APC):c. 1409-3T>G

[1091] NM 000038.6(APC) :c.4141 4142insGGTC

[1092] NM_000038.6(APC):c. 143 Idel

[1093] NM_000038.6(APC):c. 135+1G+T

[1094] NM 000038.6(APC) :c.424 Idup

[1095] NM 000038.6(APC) :c.7271C>G

[1096] NM_000038.6(APC):c.7477_7478del

[1097] NM 000038.6(APC) :c.3596dup

[1098] NM 000038.6(APC) :c. 114 Idel

[1099] NM_000038.6(APC):c. 1957A+C

[1100] NM_000038.6(APC):c.645+lG>T

[1101] NM_000038.6(APC):c.2336dup

[1102] NM 000038.6(APC) :c. 136- 1G>A

[1103] NM 000038.6(APC) :c.832OT

[1104] NM 000038.6(APC) :c.802G>T

[1105] NM_000038.6(APC):c.74_75del

[1106] NM_000038.6(APC):c.697C>T

[1107] NM_000038.6(APC):c.684_687del

[1108] NM_000038.6(APC):c.6065C>G

[1109] NM 000038.6(APC) :c.543_546del

[1110] NM 000038.6(APC) :c.5341C>T

[1111] NM_000038.6(APC):c.4796C>G

[1112] NM_000038.6(APC):c.423-9A>G

[1113] NM_000038.6(APC):c.421_422del

[1114] NM_000038.6(APC):c.4009_4010dup

[1115] NM_000038.6(APC):c.3980C>G

[1116] NM 000038.6(APC) :c.3880C>T

[1117] NM_000038.6(APC):c.3631_3632del

[1118] NM_000038.6(APC):c.3343del

[1119] NM_000038.6(APC):c.3306C>G

[1120] NM_000038.6(APC):c.3184C>T

[1121] NM_000038.6(APC):c.3090dup

[1122] NM_000038.6(APC):c.2863del

[1123] NM 000038.6(APC) :c.2790_279 IdelinsGTGT

[1124] NM_000038.6(APC):c.2686_2689dup

[1125] NM 000038.6(APC) :c.2621C>G

[1126] NM_000038.6(APC):c. 1759del

[1127] NM_000038.6(APC):c. 1633dup

[1128] NM 000038.6(APC) :c. 1564dup

[1129] NM 000038.6(APC) :c. 1548+ 1G>A

[1130] NM 000038.6(APC) :c. 1538 1539dup

[1131] NM_000038.6(APC):c. 1449_1450del

[1132] NM_000038.6(APC):c.4831C>T

[1133] NM_000038.6(APC):c.4585C>T

[1134] NM_000038.6(APC):c.4033G>T

[1135] NM_000038.6(APC):c.l409-2_1409del

[1136] NM_000038.6(APC):c. 1263G A

[1137] NM 000038.6(APC) :c.532- 1G>A

[1138] NM_000038.6(APC):c.6281_6282del

[1139] NM 000038.6(APC) :c.834+ 1G> A

[1140] NM_000038.6(APC):c.7467_7468dup

[1141] NM_000038.6(APC):c.6542_6545del

[1142] NM_000038.6(APC):c.6496C>T

[1143] NM 000038.6(APC) :c.2008_2014delinsTAGTTTTGTA NM_000038.6(APC):c. 1744-2A>T

[1144] NM_000038.6(APC):c. 1333OT

[1145] NM 000038.6(APC) :c.5978del

[1146] NM_000038.6(APC):c.4782_4785del

[1147] NM_000038.6(APC):c.4735_4736del

[1148] NM_000038.6(APC):c.4726G>T

[1149] NM 000038.6(APC) :c.467 Idel

[1150] NM_000038.6(APC):c.4660G>T

[1151] NM_000038.6(APC):c.4405C>T

[1152] NM_000038.6(APC):c.4384_4385del

[1153] NM_000038.6(APC):c.3901dup

[1154] NM_000038.6(APC):c.3766C>T

[1155] NM_000038.6(APC):c.3709_3710del

[1156] NM_000038.6(APC):c.3682C>T

[1157] NM 000038.6(APC) :c.3542T>A

[1158] NM_000038.6(APC):c.3497_3501del

[1159] NM_000038.6(APC):c.3467_3470del

[1160] NM_000038.6(APC):c.3454C>T

[1161] NM_000038.6(APC):c.2950G>T

[1162] NM_000038.6(APC):c.2093T>G

[1163] NM_000038.6(APC):c. 1974_1975del

[1164] NM_000038.6(APC):c. 1779G>A

[1165] NM_000038.6(APC):c. 1744-4OG

[1166] NM_000038.6(APC):c. 1605_1606del

[1167] NM_000038.6(APC):c. 14O9-1G>A

[1168] NM_000038.6(APC):c. 1370C>A

[1169] NM_000038.6(APC):c. 1354_1355dup

[1170] NM 000038.6(APC) :c. 1048 114 Idel

[1171] NM_000038.6(APC):c.835-7T>G

[1172] NM_000038.6(APC):c.706C>T

[1173] NM_000038.6(APC):c.667C>T

[1174] NM 000038.6(APC) :c.502del

[1175] NM_000038.6(APC):c.458del

[1176] NM_000038.6(APC):c.220+lG>A

[1177] NM_000038.6(APC):c.203T>G

[1178] NM_000038.6(APC):c. 1620dup

[1179] NM 000038.6(APC) :c.5803del

[1180] NM_000038.6(APC):c.4319del

[1181] NM_000038.6(APC):c.4474del

[1182] NM_000038.6(APC):c.2802_2805del

[1183] NM_000038.6(APC):c.6053del

[1184] NM_000038.6(APC):c.422+2T>G

[1185] NM_000038.6(APC):c.2905_2906insC

[1186] NM 000038.6(APC) :c. 1886T>G

[1187] NM_000038.6(APC):c. 1485dup

[1188] NM_000038.6(APC):c.3665C>A

[1189] NM 000038.6(APC) :c. 1548+ 1G>C

[1190] NM_000038.6(APC):c.4890del

[1191] NM 000038.6(APC) :c.4643_4645delinsT

[1192] NM 000038.6(APC) :c.2185_2336del

[1193] NM 000038.6(APC) :c. 1548+ 1G>T

[1194] NM_000038.6(APC):c. 1968_1969del

[1195] NM_000038.6(APC):c.4549C>T

[1196] NM_000038.6(APC):c. 1657del

[1197] NM_000038.6(APC):c. 104del

[1198] NM_000038.6(APC):c. 1743G+C

[1199] NM_000038.6(APC):c.3463_3467del

[1200] NM_000038.6(APC):c.497_499delmsTT

[1201] NM_000038.6(APC):c.3002del NM_000038.6(APC):c.3183dup

[1202] NM_000038.6(APC):c. 1957A>G

[1203] NM_000038.6(APC):c.4031OG

[1204] NM_000038.6(APC):c.4463del

[1205] NM 000038.6(APC) :c.1958G>A

[1206] NM_000038.6(APC):c.3757del

[1207] NM_000038.6(APC):c. 1958+1G>A

[1208] NM_000038.6(APC):c.4057G>T

[1209] NM 000038.6(APC) :c.1100 110 Idel

[1210] NM 000038.6(APC) :c.1548G>A

[1211] NM_000038.6(APC):c.4666dup

[1212] NM_000038.6(APC):c.2701C>T

[1213] NM_000038.6(APC):c. 1219del

[1214] NM 000038.6(APC) :c.5520del

[1215] NM_000038.6(APC):c.6070T

[1216] NM_000038.6(APC):c.3184 3187del

[1217] NM_000038.6(APC):c.531+3A>C

[1218] NM 000038.6(APC) :c.3571OT

[1219] NM_000038.6(APC):c.258dup

[1220] NM_000038.6(APC):c. 1178OG

[1221] NM_000038.6(APC):c.3994dup

[1222] NM_000038.6(APC):c.5234dup

[1223] NM 000038.6(APC) :c.5569del

[1224] NM_000038.6(APC):c.4778_4779insT

[1225] NM_000038.6(APC):c.2567dup

[1226] NM_000038.6(APC):c.3920_3924del

[1227] NM_000038.6(APC):c.3295_3296del

[1228] NM_000038.6(APC):c.2677G>T

[1229] NM 000038.6(APC) :c.1886del

[1230] NM 000038.6(APC) :c.1866OG

[1231] NM_000038.6(APC):c. 1778G>A

[1232] NM_000038.6(APC):c.5830T

[1233] NM_000038.6(APC):c.298del

[1234] NM_000038.6(APC):c. 1409-2A>C

[1235] NM_000038.6(APC):c.931A>T

[1236] NM 000038.6(APC) :c.1526del

[1237] NM_000038.6(APC):c.3904del

[1238] NM_000038.6(APC):c.3500A

[1239] NM_000038.6(APC):c.956del

[1240] NM 000038.6(APC) :c.5764OT

[1241] NM_000038.6(APC):c.341del

[1242] NM_000038.6(APC):c.233_236del

[1243] NM_000038.6(APC):c.4404_4418delinsC

[1244] NM_000038.6(APC):c. 1246dup

[1245] NM_000038.6(APC):c.3473_3474del

[1246] NM_000038.6(APC):c.3186 3187del

[1247] NM 000038.6(APC) :c.1879 1882del

[1248] NM_000038.6(APC):c.6976C>T

[1249] NM_000038.6(APC):c.2096G>A

[1250] NM_000038.6(APC):c.7610G

[1251] NM_000038.6(APC):c. 1370OG

[1252] NM_000038.6(APC):c.471G>A

[1253] NM_000038.6(APC):c.3241_3242del

[1254] NM 000038.6(APC) :c.3577 3578del

[1255] NM 000038.6(APC) :c.1958G>T

[1256] NM_000038.6(APC):c.2309C>G

[1257] NM 000038.6(APC) :c.38270 A

[1258] NM_000038.6(APC):c. 1312+5G>A

[1259] NM 000038.6(APC) :c.2635OT NM_000038.6(APC):c.2097G>A

[1260] NM_000038.6(APC):c.2240C>G

[1261] NM_000038.6(APC):c.2795C>A

[1262] NM_000038.6(APC):c.l744-l l_1744-ldel

[1263] NM_000038.6(APC):c. 1759dup

[1264] NM 000038.6(APC) :c.834G> A

[1265] NM_000038.6(APC):c. 1742del

[1266] NM_000038.6(APC):c.531+2dup

[1267] NM_000038.6(APC):c.4285C>T

[1268] NM_000038.6(APC):c.4132C>T

[1269] NM_000038.6(APC):c.4099C>T

[1270] NM_000038.6(APC):c.3916G>T

[1271] NM_000038.6(APC):c.490 Idel

[1272] NM_000038.6(APC):c.3607G>T

[1273] NM 000038.6(APC) :c.6371T>A

[1274] NM 000038.6(APC) :c. 1548+2T+C

[1275] NM_000038.6(APC):c.933+2T>C

[1276] NM_000038.6(APC):c.3956del

[1277] NM_000038.6(APC):c.5952_5955del

[1278] NM_000038.6(APC):c.2483del

[1279] NM_000038.6(APC):c.2395dup

[1280] NM_000038.6(APC):c.531+5G>C

[1281] NM 000038.6(APC) :c.7143 7146del

[1282] NM 000038.6(APC) :c.474 Idel

[1283] NM 000038.6(APC) :c.508_509del

[1284] NM_000038.6(APC):c.4793_4800delmsTGG

[1285] NM_000038.6(APC):c.793 l_7937del

[1286] NM 000038.6(APC) :c.6101 6102del

[1287] NM_000038.6(APC):c. 136-2A>G

[1288] NM_000038.6(APC):c. 1958+3 A>T

[1289] NM 000038.6(APC) :c.3569C>A

[1290] NM 000038.6(APC) :c.1522 1523del

[1291] NM_000038.6(APC):c. 1409-6 A>G

[1292] NM_000038.6(APC):c. 1312+5G+C

[1293] NM_000038.6(APC):c.4647del

[1294] NM_000038.6(APC):c.6010dup

[1295] NM_000038.6(APC):c.422+2T>C

[1296] NM_000038.6(APC):c.6093_6095delinsAC

[1297] NM_000038.6(APC):c.2395del

[1298] NM_000038.6(APC):c.3306C>A

[1299] NM_000038.6(APC):c.2527_2530del

[1300] NM 000038.6(APC) :c. 1548G>C

[1301] NM 000038.6(APC) :c.3593C>G

[1302] NM_000038.6(APC):c. 1239dup

[1303] NM_000038.6(APC):c.477C>G

[1304] NM_000038.6(APC):c.423-2A>T

[1305] NM_000038.6(APC):c. 1958+3 A>G

[1306] NM 001127511.3(APC):c.-190G>A

[1307] NM 001127511.3(APC):c.-192A>G

[1308] NM_000038.6(APC):c.6610C>T

[1309] NM_000038.6(APC):c.5917del

[1310] NM_000038.6(APC):c.4987G>T

[1311] NM_000038.6(APC):c.476dup

[1312] NM_000038.6(APC):c.448A>T

[1313] NM_000038.6(APC):c.3391C>T

[1314] NM_000038.6(APC):c.3340C>T

[1315] NM_000038.6(APC):c.3196del

[1316] NM_000038.6(APC):c.2795C>G

[1317] NM_000038.6(APC):c.249del NM_000038.6(APC):c.2314del

[1318] NM_000038.6(APC):c.203 l_2034del

[1319] NM 000038.6(APC) :c.1875 1878del

[1320] NM_000038.6(APC):c. 1743+1G>A

[1321] NM_000038.6(APC):c.6281del

[1322] NM_000038.6(APC):c. 1234OT

[1323] NM 000038.6(APC) :c. 1866OA

[1324] NM_000038.6(APC):c.933+lG>A

[1325] NM 000038.6(APC) :c.5944A>T

[1326] NM_000038.6(APC):c.4706_4707del

[1327] NM_000038.6(APC):c.6059_6062del

[1328] NM_000038.6(APC):c. 1999C>T

[1329] NM_000038.6(APC):c. 1743+1G>T

[1330] NM_000038.6(APC):c.531+lG>C

[1331] NM_000038.6(APC):c.3925_3928del

[1332] NM_000038.6(APC):c.3211C>T

[1333] NM 000038.6(APC) :c. 1873C>T

[1334] NM_000038.6(APC):c. 1654_1658del

[1335] NM_000038.6(APC):c.7715C>G

[1336] NM_000038.6(APC):c.311C>G

[1337] NM_000038.6(APC):c.220G>T

[1338] NM_000038.6(APC):c. 1417C>T

[1339] NM_000038.6(APC):c.266C>G

[1340] NM 000038.6(APC) :c.1531G>T

[1341] NM_000038.6(APC):c.3067dup

[1342] NM_000038.6(APC):c.3146G>A

[1343] NM 000038.6(APC) :c.5038C>T

[1344] NM_000038.6(APC):c. 1124del

[1345] NM_000038.6(APC):c.2570del

[1346] NM_000038.6(APC):c.221-lG>C

[1347] NM_000038.6(APC):c.481C>T

[1348] NM_000038.6(APC):c. 1959-2A>G

[1349] NM 000038.6(APC) :c.562C>T

[1350] NM 000038.6(APC) :c.5826 5829del

[1351] NM 000038.6(APC) :c.3595_3596del

[1352] NM_000038.6(APC):c.3404_3405del

[1353] NM 000038.6(APC) :c.800del

[1354] NM_000038.6(APC):c.7511G>A

[1355] NM_000038.6(APC):c.677del

[1356] NM 000038.6(APC) :c.5996del

[1357] NM_000038.6(APC):c.5936del

[1358] NM 000038.6(APC) :c.5804dup

[1359] NM_000038.6(APC):c.541C>T

[1360] NM_000038.6(APC):c.531+2T>C

[1361] NM_000038.6(APC):c.531+2T>A

[1362] NM 000038.6(APC) :c.524 53 l+4del

[1363] NM 000038.6(APC) :c.5145del

[1364] NM_000038.6(APC):c.487C>T

[1365] NM_000038.6(APC):c.475dup

[1366] NM_000038.6(APC):c.4733_4734del

[1367] NM_000038.6(APC):c.4652_4655del

[1368] NM_000038.6(APC):c.4645C>T

[1369] NM_000038.6(APC):c.4634C>G

[1370] NM_000038.6(APC):c.450_453del

[1371] NM_000038.6(APC):c.4495G>T

[1372] NM_000038.6(APC):c.4025dup

[1373] NM 000038.6(APC) :c.3815C>G

[1374] NM_000038.6(APC):c.3810T>A

[1375] NM_000038.6(APC):c.3785dup NM_000038.6(APC):c.3688C>T

[1376] NM_000038.6(APC):c.3147G>A

[1377] NM_000038.6(APC):c.301G>T

[1378] NM_000038.6(APC):c.288T>G

[1379] NM_000038.6(APC):c.2804dup

[1380] NM_000038.6(APC):c.2759del

[1381] NM_000038.6(APC):c.221-lG>A

[1382] NM_000038.6(APC):c. 1972_1975del

[1383] NM_000038.6(APC):c. 1959-1G>A

[1384] NM 000038.6(APC) :c.1892_1904delins AAT

[1385] NM 000038.6(APC) :c. 1658G>A

[1386] NM_000038.6(APC):c. 1609del

[1387] NM 000038.6(APC) :c. 1549- 1G> A

[1388] NM 000038.6(APC) :c. 1500T>A

[1389] NM_000038.6(APC):c. 14O9-1G>T

[1390] NM_000038.6(APC):c. 1312+3A>G

[1391] NM_000038.6(APC):c. 1312+1G>A

[1392] NM_000038.6(APC):c. 1297C>T

[1393] NM_000038.6(APC):c. 1229dup

[1394] NM_000038.6(APC):c. 1045C>T

[1395] NM_000038.6(APC):c.453del

[1396] NM 000038.6(APC) :c. 1886dup

[1397] NM 000038.5(APC) :c.792del

[1398] NM_000038.6(APC):c.423G>T

[1399] NM_000038.6(APC):c.3921_3924del

[1400] NM_000038.6(APC):c.2626C>T

[1401] NM_000038.6(APC):c. 1072C>T

[1402] NM_000038.6(APC):c.4348C>T

[1403] NM_000038.6(APC):c.2563_2564del

[1404] NM_000038.6(APC):c. 1262G>A

[1405] NM_000038.6(APC):c.6709C>T

[1406] NM 000038.6(APC) :c.3807 3808del

[1407] NM 000038.6(APC) :c.6126 614 Idel

[1408] NM_000038.6(APC):c.3471_3474del

[1409] NM 000038.6(APC) :c.2971G>T

[1410] NM_000038.6(APC):c.2805C>G

[1411] NM_000038.6(APC):c.3486_3487del

[1412] NM_000038.6(APC):c.4824_4827delmsTAC

[1413] NM_000038.6(APC):c.994C>T

[1414] NM 000038.6(APC) :c.4621C>T

[1415] NM_000038.6(APC):c.70C>T

[1416] NM_000038.6(APC):c.221-2A>G

[1417] NM_000038.6(APC):c.5757del

[1418] NM_000038.6(APC):c.4669_4670del

[1419] NM_000038.6(APC):c.3149del

[1420] NM_000038.6(APC):c.5490_5493del

[1421] NM_000038.6(APC):c.423-lG>C

[1422] NM_000038.6(APC):c.288T>A

[1423] NM_000038.6(APC):c.3602C>G

[1424] NM_000038.6(APC):c. 1987C>T

[1425] NM_000038.6(APC):c. 1312+3_1312+4del

[1426] NM_000038.6(APC):c.477del

[1427] NM_000038.6(APC):c. 1744-2A>G

[1428] NM_000038.6(APC):c.3814del

[1429] NM_000038.6(APC):c.4666del

[1430] NM_000038.6(APC):c.3286C>T

[1431] NM_000038.6(APC):c.426_427del

[1432] NM_000038.6(APC):c.4216C>T

[1433] NM_000038.6(APC):c.3260_3261del NM_OOO138.5(FBN1) :.4100G>A (p.Cys 1367Tyr)

[1434] NM_OOO138.5(FBN1) :.274G>A (p.Gly92Arg)

[1435] NM_OOO138.5(FBN1) :.3338-lG>C

[1436] NM_OOO138.5(FBN1) :.2729-2A>G

[1437] NM_OOO138.5(FBN1) C.7527OA (p.Cys2509Ter)

[1438] NM_OOO138.5(FBN1) c.6806T>A (p.Ile2269Asn)

[1439] NM_OOO138.5(FBN1) c.5557T>C (p.Cysl853Arg)

[1440] NM_OOO138.5(FBN1) c.2296del (p.Ile766fs)

[1441] NM_OOO138.5(FBN1) c.6046G>A (p.Glu2016Lys)

[1442] NM_OOO138.5(FBN1) c.5999G>T (p.Cys2000Phe)

[1443] NM_OOO138.5(FBN1) c.539-2A>G

[1444] NM_OOO138.5(FBN1) c.3337+2T>C

[1445] NM_OOO138.5(FBN1) c.4936T>A (p.Cysl646Ser)

[1446] NM_OOO138.5(FBN1) c.6695G>C (p.Cys2232Ser)

[1447] NM_OOO138.5(FBN1) c. 1995C>G (p.Tyr665Ter)

[1448] NM_OOO138.5(FBN1) c.2776T>C (p.Cys926Arg)

[1449] NM_OOO138.5(FBN1) c.4166G>A (p.Cysl389Tyr)

[1450] NM_OOO138.5(FBN1) c.5296+5G>A

[1451] NM_OOO138.5(FBN1) c.5453G>A (p.Cysl818Tyr)

[1452] NM_OOO138.5(FBN1) C.8047OT (p.Gln2683Ter)

[1453] NM_OOO138.5(FBN1) c.4504T>C (p.Cysl502Arg)

[1454] NM_OOO138.5(FBN1) c. 127 A>T (p.Lys43Ter)

[1455] NM_OOO138.5(FBN1) c. 1883G>A (p.Cys628Tyr)

[1456] NM_OOO138.5(FBN1) c. 1185dup (p.Pro396fs)

[1457] NM_OOO138.5(FBN1) C.5560OT (p.Glnl854Ter)

[1458] NM_OOO138.5(FBN1) c.6050G>A (p.Cys2017Tyr)

[1459] NM_OOO138.5(FBN1) c. 164G>A (p.Gly55Glu)

[1460] NM_OOO138.5(FBN1) c.7205-2A>G

[1461] NM_OOO138.5(FBN1) c.7448G>A (p.Cys2483Tyr)

[1462] NM_OOO138.5(FBN1) c.7453+lG>A

[1463] NM_OOO138.5(FBN1) c.2374T>C (p.Cys792Arg)

[1464] NM_OOO138.5(FBN1) c.4472G>T (p.Cysl491Phe)

[1465] NM_OOO138.5(FBN1) c.4217A>G (p.Aspl406Gly)

[1466] NM_OOO138.5(FBN1) c. 1427G>A (p.Cys476Tyr)

[1467] NM_OOO138.5(FBN1) c.7711T>C (p.Cys2571Arg)

[1468] NM_OOO138.5(FBN1) c.2495G>T (p.Cys832Phe)

[1469] NM_OOO138.5(FBN1) c.2249G>A (p.Cys750Tyr)

[1470] NM_OOO138.5(FBN1) c.200G>T (p.Cys67Phe)

[1471] NM_OOO138.5(FBN1) c.1665C> A (p . Cys 555Ter)

[1472] NM_OOO138.5(FBN1) c.266G>T (p.Cys89Phe)

[1473] NM_OOO138.5(FBN1) c. 1622G>A (p.Cys541Tyr)

[1474] NM_OOO138.5(FBN1) c.2559C>A (p.Cys853Ter)

[1475] NM_OOO138.5(FBN1) c.2413T>C (p.Cys805Arg)

[1476] NM_OOO138.5(FBN1) c.5782T>C (p.Cysl928Arg)

[1477] NM_OOO138.5(FBN1) C.2111OG (p.Ser704Ter)

[1478] NM_OOO138.5(FBN1) c. 1147G>T (p.Glu383Ter)

[1479] NM_OOO138.5(FBN1) c.3487_3488dup (p.Leul l65fs)

[1480] NM_OOO138.5(FBN1) C.1714+1G>T

[1481] NM_OOO138.5(FBN1) C.1961-1G>A

[1482] NM_OOO138.5(FBN1) c.5789-lG>A

[1483] NM_OOO138.5(FBN1) c. 1787G>A (p.Cys596Tyr)

[1484] NM_OOO138.5(FBN1) c.8059_8060del (p.Val2687fs)

[1485] NM_OOO138.5(FBN1) c.6139del (p.Ser2047fs)

[1486] NM_OOO138.5(FBN1) c.3497G>A (p.Cys 1166Tyr)

[1487] NM_OOO138.5(FBN1) c.2584T>C (p.Cys862Arg)

[1488] NM_OOO138.5(FBN1) C.4689OG (p.Cys 1563Trp)

[1489] NM_OOO138.5(FBN1) c.2051G>A (p.Cys684Tyr)

[1490] NM_OOO138.5(FBN1) c.2644G>A (p.Ala882Thr)

[1491] NM_OOO138.5(FBN1) c.5911T>C (p.Cysl971Arg) NM_000138.5(FBNl):c.4582+lG>A NM_000138.5(FBNl):c.4688G>A (p.Cysl563Tyr) NM_000138.5(FBNl):c.7865G>C (p.Cys2622Ser) NM_000138.5(FBNl):c.5309G>A (p.Cysl770Tyr) NM_000138.5(FBNl):c.6997+lG>A NM_000138.5(FBNl):c.502T>C (p.Cysl68Arg) NM_000138.5(FBNl):c.6180C>G (p.Tyr2060Ter) NM_000138.5(FBNl):c.l663T>C (p.Cys555Arg) NM_000138.5(FBNl):c.l715-2A>G NM_000138.5(FBNl):c. 1069C>T (p.Gln357Ter) NM_000138.5(FBNl):c.5917+lG>T NM_000138.5(FBNl):c.2768dup (p.Asn923fs) NM_000138.5(FBNl):c.503G>A (p.Cysl68Tyr) NM_000138.5(FBNl):c.6071G>A (p.Cys2024Tyr) NM_000138.5(FBNl):c.4816+2T>C

[1492] NM OOO 138.5(FBN1) :c.5824T>C (p.Cys 1942Arg) NM_000138.5(FBNl):c.7032_7054del (p.Asn2346fs) NM_000138.5(FBNl):c.5158T>C (p.Cys 1720Arg) NM_000138.5(FBNl):c.496T>C (p.Cysl66Arg) NM_000138.5(FBNl):c. 1130G>A (p.Cys377Tyr) NM_000138.5(FBNl):c. l679G>T (p.Gly560Val) NM_000138.5(FBNl):c.3217G>T (p.Glul073Ter) NM_000138.5(FBNl):c.3545G>A (p.Cys 1182Tyr) NM_000138.5(FBNl):c.4048T>C (p.Cys 135OArg) NM_000138.5(FBNl):c.8596dup (p.Ile2866fs) NM_000138.5(FBNl):c.7087T>G (p.Cys2363Gly) NM_000138.5(FBNl):c.7168T>A (p.Cys 2390 Ser) NM_000138.5(FBNl):c.5666G>A (p.Cysl889Tyr) NM_000138.5(FBNl):c.2415T>G (p.Cys805Trp) NM_000138.5(FBNl):c.6634C>T (p.Gln2212Ter) NM_000138.5(FBNl):c.6393C>G (p.Cys2131Trp) NM_000138.5(FBNl):c.6916C>T (p.Arg2306Cys) NM_000138.5(FBNl):c.3945dup (p.Gly 1316fs) NM_000138.5(FBNl):c.7801C>T (p.Gln2601Ter) NM_000138.5(FBNl):c.5434T>C (p.Cysl812Arg) NM_000138.5(FBNl):c.6866G>A (p.Cys2289Tyr) NM_000138.5(FBNl):c.203G>A (p.Cys68Tyr) NM_000138.5(FBNl):c.5377T>C (p.Cys 1793 Arg) NM_000138.5(FBNl):c. l098G>C (p.Trp366Cys) NM_000138.5(FBNl):c.5493C>A (p.Tyrl831Ter) NM_000138.5(FBNl):c.7325G>A (p.Cys2442Tyr) NM_000138.5(FBNl):c.6872-961A>G

[1493] NM 000138.5(FBN1) :c.2438OG (p. Ser813Ter) NM_000138.5(FBNl):c. 1558OT (p.Gln520Ter) NM_000138.5(FBNl):c.661del (p.Cys221fs) NM_000138.5(FBNl):c.6508T>C (p.Cys2170Arg) NM_000138.5(FBNl):c.7819G>A (p.Asp2607Asn) NM_000138.5(FBNl):c.7387G>T (p.Glu2463Ter) NM_000138.5(FBNl):c.4349G>T (p.Cys 1450Phe) NM_000138.5(FBNl):c.7654T>C (p.Cys2552Arg) NM_000138.5(FBNl):c.5546-lG>A NM_000138.5(FBNl):c.7582T>C (p.Cys2528Arg) NM_000138.5(FBNl):c.5905del (p.Argl969fs) NM_000138.5(FBNl):c.5066-lG>A NM_000138.5(FBNl):c.4781del (p.Glyl594fs) NM_000138.5(FBNl):c.635_636del (p.Thr212fs) NM_000138.5(FBNl):c. l868G>T (p.Cys623Phe) NM_000138.5(FBNl):c.7787A>G (p.Tyr2596Cys) NM_000138.5(FBNl):c.7649G>A (p.Cys2550Tyr) NM OOO 138.5(FBN 1) :c.6698C>T (p.Pro2233Leu) NM_000138.5(FBNl):c.2113+lG>A

[1494] NM OOO 138.5(FBN 1) :c. 1538G>C (p.Cys513 Ser) NM_000138.5(FBNl):c.6940_6943dup (p.Thr2315fs) NM_000138.5(FBNl):c.7822G>T (p.Glu2608Ter) NM_000138.5(FBNl):c.626G>T (p.Cys209Phe)

[1495] NM_000138.5(FBNl):c.4226_4227del (p.Cysl408_Serl409insTer) NM_000138.5(FBNl):c.4348T>C (p.Cysl450Arg)

[1496] NM OOO 138.5(FBN 1) :c.6O51T>G (p.Cys2017Trp) NM_000138.5(FBNl):c.7549C>T (p.Gln2517Ter) NM_000138.5(FBNl):c.530G>A (p.Cysl77Tyr) NM OOO 138.5(FBN 1) :c.6751T>C (p.Cys2251 Arg) NM_000138.5(FBNl):c.7664G>T (p.Gly2555Val)

[1497] NM OOO 138.5(FBN 1) :c.4177 4199del (p.Glul393fs)

[1498] NM_000138.5(FBNl):c.671G>A (p.Cys224Tyr)

[1499] NM_000138.5(FBNl):c.2113+lG>C NM_000138.5(FBNl):c.7204+lG>A NM_000138.5(FBNl):c.7571-lG>A NM_000138.5(FBNl):c.7663G>A (p.Gly2555Arg) NM OOO 138.5(FBN 1) :c.7399C>T (p.Gln2467Ter) NM_000138.5(FBNl):c.6163+lG>A

[1500] NM_000138.5(FBNl):c.4172G>A (p.Cysl391Tyr)

[1501] NM OOO 138.5(FBN 1) :c.8516dup (p.Lys2840fs)

[1502] NM_000138.5(FBNl):c.7982A>G (p.Tyr2661Cys) NM OOO 138.5(FBN 1) :c.7892G>T (p.Cys263 IPhe) NM OOO 138.5(FBN 1) :c.7871 A>G (p. Asn2624Ser) NM OOO 138.5(FBN 1) :c.772C>T (p.Gln258Ter) NM_000138.5(FBNl):c.7712G>A (p.Cys2571Tyr) NM OOO 138.5(FBN 1) :c.7699+ 1G>A

[1503] NM OOO 138.5(FBN 1) :c.7447T>C (p.Cys2483 Arg) NM_000138.5(FBNl):c.7410C>G (p.Cys2470Trp) NM_000138.5(FBNl):c.7398C>A (p.Tyr2466Ter) NM_000138.5(FBNl):c.7324T>A (p.Cys2442Ser) NM OOO 138.5(FBN 1) :c.6952T>C (p.Cys2318Arg) NM_000138.5(FBNl):c.6773_6774del (p.Cys2258fs) NM_000138.5(FBNl):c.6740-2del

[1504] NM OOO 138.5(FBN 1) :c.6331T>C (p.Cys2111 Arg) NM_000138.5(FBNl):c.5950T>C (p.Cysl984Arg) NM_000138.5(FBNl):c.5672-lG>A

[1505] NM_000138.5(FBNl):c.5244_5245del (p.Cysl748fs)

[1506] NM_000138.5(FBNl):c.479G>A (p.Cysl60Tyr) NM_000138.5(FBNl):c.4766G>T (p.Cysl589Phe) NM OOO 138.5(FBN 1) :c.4468G>A (p.Glu 1490Lys) NM_000138.5(FBNl):c.4292G>A (p.Cysl431Tyr) NM_000138.5(FBNl):c.4286G>A (p.Cysl429Tyr) NM_000138.5(FBNl):c.4049G>T (p.Cysl35OPhe) NM_000138.5(FBNl):c.3656A>G (p.Tyrl219Cys) NM_000138.5(FBNl):c.3554G>A (p.Glyll85Asp)

[1507] NM_000138.5(FBNl):c.3533A>G (p.Tyrll78Cys) NM OOO 138.5(FBN 1) :c.3475T>C (p.Cys 1159Arg)

[1508] NM_000138.5(FBNl):c.3338A>G (p.Asplll3Gly) NM_000138.5(FBNl):c.3302A>G (p.TyrllOlCys) NM_000138.5(FBNl):c.32T>G (p.Leul lArg)

[1509] NM OOO 138.5(FBN 1) :c.3144del (p.Ile 1048fs)

[1510] NM OOO 138.5(FBN1) :c.3143T>C (p.IlelO48Thr) NM OOO 138.5(FBNl):c.2585G>A (p.Cys 862Tyr) NM_000138.5(FBNl):c.2557T>A (p.Cys853Ser) NM_000138.5(FBNl):c.2446T>C (p.Cys816Arg) NM_000138.5(FBNl):c.2432G>A (p.Cys811Tyr) NM_000138.5(FBNl):c.2369G>A (p.Cys790Tyr) NM OOO 138.5(FBN1) :c.2298_230 Idel (p.Ile766fs) NM_000138.5(FBNl):c.2054G>A (p.Cys685Tyr) NM OOO 138.5(FBN1) :c. 1849T>C (p.Cys617Arg) NM_000138.5(FBNl):c. 1831T>C (p.Cys611Arg) NM_000138.5(FBNl):c. 1766A+G (p.Asn589Ser) NM_000138.5(FBNl):c. 1754G>A (p.Gly585Glu) NM_000138.5(FBNl):c. 1727G>A (p.Cys576Tyr) NM_000138.5(FBNl):c. 1709G>A (p.Cys570Tyr) NM OOO 138.5(FBNl):c.164+ Idel NM_000138.5(FBNl):c. 1537T+C (p.Cys513Arg) NM_000138.5(FBNl):c. 151OT>C (p.Cys504Arg) NM_000138.5(FBNl):c.l468G>T (p.Asp490Tyr) NM_000138.5(FBNl):c. 1463G+A (p.Cys488Tyr) NM_000138.5(FBNl):c. 1421G T (p.Cys474Phe) NM_000138.5(FBNl):c.7800C>G (p.Tyr2600Ter) NM_000138.5(FBNl):c.7498T>C (p.Cys2500Arg) NM_000138.5(FBNl):c.7015T>C (p.Cys2339Arg) NM_000138.5(FBNl):c.6244G>T (p.Glu2082Ter) NM_000138.5(FBNl):c.5919dup (p.Ilel974fs) NM_000138.5(FBNl):c.5788G>A (p.Aspl930Asn) NM_000138.5(FBNl):c.5416T>C (p.Cysl806Arg) NM_000138.5(FBNl):c.5065+lG>T NM_000138.5(FBNl):c.5065+lG>C NM_000138.5(FBNl):c.5021G>A (p.Cysl674Tyr) NM_000138.5(FBNl):c.4988G>T (p.Cysl663Phe) NM_000138.5(FBNl):c.4538G>A (p.Cysl513Tyr) NM_000138.5(FBNl):c.4490G>A (p.Cysl497Tyr) NM_000138.5(FBNl):c.4056del (p.Trpl354fs) NM_000138.5(FBNl):e.3558C>G (p.Tyrll86Ter) NM_000138.5(FBNl):c.3518A>C (p.Asnl l73Thr) NM_000138.5(FBNl):c.3157T>G (p.CyslO53Gly) NM_000138.5(FBNl):c.2051G>T (p.Cys684Phe) NM_000138.5(FBNl):c.961_962del (p.Thr321fs) NM_000138.5(FBNl):c.2737G>A (p.Glu913Lys) NM_000138.5(FBNl):c.2342G>A (p.Cys781Tyr) NM_000138.5(FBNl):c.2777G>A (p.Cys926Tyr) NM_000138.5(FBNl):c.4460A>G (p.Aspl487Gly) NM_000138.5(FBNl):c.5417G>T (p.Cysl806Phe) NM_000138.5(FBNl):c.441del (p.Glnl47fs) NM_000138.5(FBNl):c.4188del (p.Glyl397fs) NM_000138.5(FBNl):c.2977T>C (p.Cys993Arg) NM_000138.5(FBNl):c.7605C>A (p.Cys2535Ter) NM_000138.5(FBNl):c.4031G>A (p.Glyl344Glu) NM_000138.5(FBNl):c.3012C>A (p.Tyrl004Ter) NM_000138.5(FBNl):c.701G>A (p.Gly234Asp) NM_000138.5(FBNl):c.3778G>T (p.Glul260Ter) NM_000138.5(FBNl):c.7532G>A (p.Cys2511Tyr) NM_000138.5(FBNl):c.l837+5G>A NM_000138.5(FBNl):c.6610T>C (p.Cys2204Arg) NM_000138.5(FBNl):c.6982C>T (p.Gln2328Ter) NM_000138.5(FBNl):c.5999G>A (p.Cys2000Tyr) NM OOO 138.5(FBN1) :c.5626'1 C (p.Cys 1876Arg) NM_000138.5(FBNl):c.2216G>A (p.Cys739Tyr) NM_000138.5(FBNl):c. 1904A+G (p.Tyr635Cys) NM_000138.5(FBNl):c.2673A>G (p.Gln891=) NM_000138.5(FBNl):c.3269del (p.Prol090fs) NM_000138.5(FBNl):c.3963A>G (p.Thrl321=)

[1511] NM_000138.5(FBNl):c.7977C>A (p.Cys2659Ter) NM_000138.5(FBNl):c.4293C>A (p.Cysl431Ter) NM_000138.5(FBNl):c.3794G>C (p.Cysl265Ser) NM_000138.5(FBNl):c.3458G>A (p.Cysll53Tyr) NM_000138.5(FBNl):c. l462T>C (p.Cys488Arg) NM_000138.5(FBNl):c.2854+lG>T

[1512] NM_000138.5(FBNl):c.3253C>T (p.Glnl085Ter) NM_000138.5(FBNl):c.7376G>A (p.Cys2459Tyr) NM_000138.5(FBNl):c.7880G>A (p.Gly2627Glu) NM_000138.5(FBNl):c. l606C>T (p.Gln536Ter) NM_000138.5(FBNl):c.3851G>A (p.Cys 1284Tyr) NM_000138.5(FBNl):c.5371T>C (p.Cysl791Arg) NM_000138.5(FBNl):c.6503A>G (p.Asp2168Gly) NM_000138.5(FBNl):c.7364G>A (p.Cys2455Tyr)

[1513] NM_000138.5(FBNl):c.503G>T (p.Cysl68Phe)

[1514] NM OOO 138.5(FBNl):c.5783G>A (p.Cys 1928Tyr)

[1515] NM_000138.5(FBNl):c.3856del (p.Aspl285_Leul286insTer) NM_000138.5(FBNl):c.3839_3846del (p.Aspl280fs) NM_000138.5(FBNl):c.6661T>C (p.Cys2221Arg) NM_000138.5(FBNl):c.6087C>A (p.Cys2029Ter)

[1516] NM_000138.5(FBNl):c.2858del (p.Ile953fs) NM_000138.5(FBNl):c.7656C>A (p.Cys2552Ter)

[1517] NM OOO 138.5(FBN1) :c. 1846G>T (p.Glu616Ter) NM OOO 138.5(FBNl):c.3977G>A (p.Cys 1326Tyr) NM_000138.5(FBNl):c.6487G>T (p.Glu2163Ter) NM_000138.5(FBNl):c.8021G>A (p.Cys2674Tyr) NM_000138.5(FBNl):c. l570dup (p.Thr524fs) NM_000138.5(FBNl):c.6113G>A (p.Cys2038Tyr) NM_000138.5(FBNl):c.4382G>C (p.Cysl461Ser) NM_000138.5(FBNl):c.5839T>C (p.Cysl947Arg)

[1518] NM OOO 138.5(FBN1) :c.5183C>T (p. Ala 1728Val)

[1519] NM_000138.5(FBNl):c.2814del (p.Ser939fs) NM_000138.5(FBNl):c.7819+lG>A NM_000138.5(FBNl):c.7217G>A (p.Cys2406Tyr) NM 000138.5(FBN1) :c.5470T>C (p.Cys 1824Arg) NM_000138.5(FBNl):c.6332G>A (p.Cys2111Tyr) NM_000138.5(FBNl):c.3083A>G (p.Aspl028Gly) NM_000138.5(FBNl):c.3757C>T (p.Glnl253Ter) NM_000138.5(FBNl):c.7402T>C (p.Cys2468Arg)

[1520] NM_000138.5(FBNl):c.7454A>G (p.Asp2485Gly) NM_000138.5(FBNl):c.4259G>T (p.Cys 1420Phe) NM 000138.5(FBNl):c.5993G>A (p.Cys 1998Tyr) NM_000138.5(FBNl):c.5177G>A (p.Glyl726Asp) NM_000138.5(FBNl):c.6037+lG>A

[1521] NM_000138.5(FBNl):c.2934dup (p.Ala979fs) NM_000138.5(FBNl):c.2243G>A (p.Cys748Tyr)

[1522] NM_000138.5(FBNl):c.8525_8529del (p.Leu2842fs) NM_000138.5(FBNl):c.6616+lG>A

[1523] NM_000138.5(FBNl):c.2294-lG>T NM_000138.5(FBNl):c.917del (p.Asn306fs) NM_000138.5(FBNl):c.2269del (p.Asp757fs) NM_000138.5(FBNl):c.762del (p.Leu256fs)

[1524] NM_000138.5(FBNl):c.6419G>A (p.Gly2140Glu) NM_000138.5(FBNl):c.5422+lG>A

[1525] NM_000138.5(FBNl):c.978del (p.Arg327fs) NM_000138.5(FBNl):c.2293+lG>A

[1526] NM_000138.5(FBNl):c.5823_5824del (p.Cysl942fs) NM_000138.5(FBNl):c. l982G>A (p.Cys661Tyr) NM_000138.5(FBNl):c.4532G>A (p.Cysl511Tyr) NM_000138.5(FBNl):c.5330G>A (p.Cys 1777Tyr) NM_000138.5(FBNl):c.2213dup (p.Cys739fs)

[1527] NM_000138.5(FBNl):c.7729dup (p.Cys2577fs)

[1528] NM_000138.5(FBNl):c. l426T>C (p.Cys476Arg)

[1529] NM_000138.5(FBNl):c.7525T>G (p.Cys2509Gly)

[1530] NM_000138.5(FBNl):c.6695G>A (p.Cys2232Tyr)

[1531] NM_000138.5(FBNl):c.6963del (p.Phe2322fs)

[1532] NM_OOO138.5(FBNl):c.3165T>A (p.CyslO55Ter)

[1533] NM_000138.5(FBNl):c.4061G>A (p.Trpl354Ter)

[1534] NM_000138.5(FBNl):c. 1134del (p.Ile379fs)

[1535] NM_000138.5(FBNl):c.5672-87A>G

[1536] NM_000138.5(FBNl):c.4166G>C (p.Cysl389Ser)

[1537] NM_000138.5(FBNl):c.2080G>T (p.Glu694Ter)

[1538] NM_000138.5(FBNl):c.6784C>T (p.Gln2262Ter)

[1539] NM_000138.5(FBNl):c.2305T>C (p.Cys769Arg)

[1540] NM_000138.5(FBNl):c.2722T>C (p.Cys908Arg)

[1541] NM_000138.5(FBNl):c.811T>G (p.Cys271Gly)

[1542] NM OOO 138.5(FBN1) :c. 1849T>G (p.Cys617Gly)

[1543] NM 000138.5(FBN1) :c.8020T>C (p.Cys2674Arg)

[1544] NM_000138.5(FBNl):c.2945G>C (p.Cys982Ser)

[1545] NM_000138.5(FBNl):c.4211-lG>A

[1546] NM_000138.5(FBNl):c.2723G>C (p.Cys908Ser)

[1547] NM_000138.5(FBNl):c.4382G>T (p.Cysl461Phe)

[1548] NM_000138.5(FBNl):c.6793T>G (p.Cys2265Gly)

[1549] NM_000138.5(FBNl):c.2113+2T>G

[1550] NM_000138.5(FBNl):c. l522C>T (p.Gln508Ter)

[1551] NM_000138.5(FBNl):c.461G>C (p.Cys l54Ser)

[1552] NM_000138.5(FBNl):c. l481G>A (p.Cys494Tyr)

[1553] NM_000138.5(FBNl):c. l670G>A (p.Cys557Tyr)

[1554] NM_000138.5(FBNl):c.5680G>A (p.Glul894Lys)

[1555] NM_000138.5(FBNl):c.6794G>A (p.Cys2265Tyr)

[1556] NM_000138.5(FBNl):c. 1011C>A (p.Tyr337Ter)

[1557] NM_000138.5(FBNl):c.6379+2T>C

[1558] NM_000138.5(FBNl):c.6772T>C (p.Cys2258Arg)

[1559] NM_000138.5(FBNl):c. l786T>G (p.Cys596Gly)

[1560] NM_000138.5(FBNl):c.2563C>T (p.Gln855Ter)

[1561] NM_000138.5(FBNl):c.478T>C (p.Cysl60Arg)

[1562] NM_000138.5(FBNl):c.6164-2A>G

[1563] NM_000138.5(FBNl):c.7432_7435del (p.Glu2478fs)

[1564] NM_000138.5(FBNl):c.7879G>C (p.Gly2627Arg)

[1565] NM_000138.5(FBNl):c.6086G>A (p.Cys2029Tyr)

[1566] NM_000138.5(FBNl):c.6682dup (p.Tyr2228fs)

[1567] NM 000138.4(FBN1) :c.5593 5594dup (p.Ile 1866fs)

[1568] NM_000138.5(FBNl):c.2T>G (p.MetlArg)

[1569] NM_000138.5(FBNl):c.5917+lG>A

[1570] NM_000138.5(FBNl):c.6380-2A>C

[1571] NM_000138.5(FBNl):c.2114-2A>C

[1572] NM_000138.5(FBNl):c.l957_1958del (p.Cys652_Val653insTer)

[1573] NM_000138.5(FBNl):c.2023_2026del (p.Phe675fs)

[1574] NM_000138.5(FBNl):c. l042C>T (p.Gln348Ter)

[1575] NM_000138.5(FBNl):c.2581C>T (p.Arg861Ter)

[1576] NM_000138.5(FBNl):c.3834T>G (p.Cysl278Trp)

[1577] NM_000138.5(FBNl):c.6904T>A (p.Cys2302Ser)

[1578] NM_000138.5(FBNl):c.3G>T (p.Metllle)

[1579] NM_000138.5(FBNl):c.439C>T (p.Glnl47Ter)

[1580] NM_000138.5(FBNl):c.4562del (p.Prol521fs)

[1581] NM_000138.5(FBNl):c.841_842insT (p.Glu281fs)

[1582] NM_000138.5(FBNl):c.6583G>A (p.Gly2195Arg)

[1583] NM_000138.5(FBNl):c.7792C>T (p.Gln2598Ter)

[1584] NM_000138.5(FBNl):c. l807C>T (p.Gln603Ter) NM_000138.5(FBNl):c.3209-lG>C NM_000138.5(FBNl):c.6884G>A (p.Cys2295Tyr) NM_000138.5(FBNl):c.6430A>C (p.Asn2144His) NM_000138.5(FBNl):c.2524A>T (p.Lys842Ter) NM_000138.5(FBNl):c.4331G>A (p.Cysl444Tyr) NM_000138.5(FBNl):c.2201G>A (p.Cys734Tyr) NM OOO 138.5(FBN 1) :c.8006G>T (p.Gly2669Val) NM OOO 138.5(FBNl):c.5372G>A (p.Cys 1791Tyr) NM_000138.5(FBNl):c.4412_4415del (p.Glul471fs) NM OOO 138.5(FBN 1) :c. 157 Idel (p.Thr524fs) NM_000138.5(FBNl):c.7C>T (p.Arg3Ter)

[1585] NM OOO 138.5(FBN 1) :c.8488C>T (p.Gln2830Ter) NM_000138.5(FBNl):c.7708G>A (p.Glu2570Lys) NM_000138.5(FBNl):c.732T>A(p.Cys244Ter) NM OOO 138.5(FBN 1) :c.5683T>C (p.Cys 1895 Arg) NM_000138.5(FBNl):c.434G>A (p.Cysl45Tyr) NM_000138.5(FBNl):c.299G>A (p.Cysl00Tyr) NM_000138.5(FBNl):c.8226+lG>A NM_OOO138.5(FBNl):c.5O16dup (p.Ilel673fs) NM_000138.5(FBNl):c.7151_7152del (p.Val2384fs) NM_000138.5(FBNl):c.6739+lG>A NM_000138.5(FBNl):c.5918-2A>G

[1586] NM OOO 138.5(FBN 1) :c.8148C>G (p.Tyr2716Ter) NM_000138.5(FBNl):c.7769G>A (p.Cys2590Tyr) NM_000138.5(FBNl):c.7141C>T (p.Gln2381Ter) NM_000138.5(FBNl):c.6694T>C (p.Cys2232Arg) NM_000138.5(FBNl):c.7832G>A (p.Cys2611Tyr) NM_000138.5(FBNl):c.6425G>A (p.Cys2142Tyr) NM_000138.5(FBNl):c.6388G>A (p.Glu2130Lys) NM OOO 138.5 (FBN 1) :c .5726T>C (p .He 1909Thr) NM OOO 138.5(FBNl):c.5015G>A (p.Cys 1672Tyr) NM_000138.5(FBNl):c.4930C>T (p.Argl644Ter) NM OOO 138.5 (FBN 1) :c. 1426T>G (p.Cys476Gly) NM OOO 138.5 (FBN 1) :c.8544del (p.Lys2848fs) NM_000138.5(FBNl):c.2728+lG>C NM_000138.5(FBNl):c.7039_7040del (p.Met2347fs) NM OOO 138.5 (FBN 1) :c.5817del (p. Asn 1940fs) NM_000138.5(FBNl):e.4405del (p.Argl469fs) NM_000138.5(FBNl):c.266G>A (p.Cys89Tyr) NM_000138.5(FBNl):c.8226+5G>A

[1587] NM OOO 138.5 (FBN 1) :c.8038OT (p. Arg2680Cys) NM OOO 138.5 (FBN 1) :c.8005G>T (p.Gly2669Cys) NM_000138.5(FBNl):c.7916A>G (p.Tyr2639Cys) NM_000138.5(FBNl):c.7775G>A (p.Cys2592Tyr) NM_000138.5(FBNl):c.7604G>A (p.Cys2535Tyr) NM OOO 138.5(FBNl):e.7531T>C (p.Cys251 lArg) NM OOO 138.5 (FBN 1) :c.7267G>T (p.Gly2423Ter) NM_000138.5(FBNl):c.7253G>A (p.Cys2418Tyr) NM_000138.5(FBNl):c.7205-lG>A NM_000138.5(FBNl):c.7125T>A (p.Cys2375Ter) NM_000138.5(FBNl):c.6752G>A (p.Cys2251Tyr) NM_000138.5(FBNl):c.6650G>A (p.Cys2217Tyr) NM_000138.5(FBNl):c.6628T>C (p.Cys2210Arg) NM_000138.5(FBNl):c.6453C>G (p.Cys2151Trp) NM_000138.5(FBNl):c.6418G>A (p.Gly2140Arg) NM OOO 138.5 (FBN 1) :c.6274T>C (p.Trp2092Arg) NM_000138.5(FBNl):c.6169C>T (p.Arg2057Ter) NM OOO 138.5(FBN1) :c.5801G>A (p.Cys 1934Tyr) NM OOO 138.5 (FBN 1) :c.5699G>A (p.Cys 1900Tyr) NM_000138.5(FBNl):c.5431G>A (p.Glul811Lys) NM_000138.5(FBNl):c.5097C>G (p.Tyrl699Ter) NM OOO 138.5(FBN 1) :c.4621C>T (p. Argl 54 ITer) NM_000138.5(FBNl):c.4520G>A (p.Glyl507Asp) NM_000138.5(FBNl):c.4336G>A (p.Aspl446Asn) NM OOO 138.5 (FBN 1) :c.4096G> A (p.Glu 1366Lys) NM OOO 138.5 (FBN 1) :c.4337-2A>G NM_000138.5(FBNl):c.l64+lG>A

[1588] NM OOO 138.5 (FBN 1) :c.3838G>A (p. Asp 1280Asn) NM OOO 138.5(FBNl):c.3596 A>G (p.Aspl l99Gly) NM_000138.5(FBNl):c.3463G>A (p.Aspl l55Asn) NM_000138.5(FBNl):c.3344A>G (p.Aspl ll5Gly) NM_000138.5(FBNl):c.3173G>T (p.GlylO58Val) NM_000138.5(FBNl):c.2953G>A (p.Gly985Arg) NM OOO 138.5 (FBN 1) :c.2806C>T (p.Gln936Ter) NM OOO 138.5 (FBN 1) :c.2645C>T (p. Ala882Val) NM_000138.5(FBNl):c.2627G>A (p.Cys876Tyr) NM_000138.5(FBNl):c.2539+lG>A

[1589] NM_000138.5(FBNl):c.2306G>A (p.Cys769Tyr) NM_000138.5(FBNl):c.2227C>T (p.Arg743Cys)

[1590] NM_000138.5(FBNl):c.2180G>A (p.Cys727Tyr) NM_000138.5(FBNl):c.l817C>A (p.Ser606Ter) NM_000138.5(FBNl):c. 1759T>G (p.Cys587Gly) NM_000138.5(FBNl):c. 1726T>G (p.Cys576Gly) NM_000138.5(FBNl):c. 1693C>T (p.Arg565Ter) NM_000138.5(FBNl):c. 1664G>T (p.Cys555Phe) NM_000138.5(FBNl):c.l583G>A (p.Cys528Tyr) NM_000138.5(FBNl):c.l468+2T>C NM_000138.5(FBNl):c. 1421G>A (p.Cys474Tyr) NM_000138.5(FBNl):c.640G>A(p.Gly214Ser) NM_000138.5(FBNl):c.7499G>A (p.Cys2500Tyr) NM_000138.5(FBNl):c.4210+lG>A NM_000138.5(FBNl):c.5861T>G (p.Phel954Cys) NM_000138.5(FBNl):c.l633C>T (p.Arg545Cys) NM_000138.5(FBNl):c.l285C>T (p.Arg429Ter) NM_000138.5(FBNl):c. 1A>G (p.MetlVal) NM_000138.5(FBNl):c.6354C>G (p.Ile2118Met) NM OOO 138.5(FBNl):c.3373C>T (p. Argl 125Ter) NM OOO 138.5 (FBN 1) :c.5066del (p. Asp 1689fs) NM_000138.5(FBNl):c.3037G>A (p.GlylO13Arg) NM OOO 138.5 (FBN 1) :c. 1879C>T (p. Arg627Cys) NM_000138.5(FBNl):c.6509G>A (p.Cys2170Tyr) NM OOO 138.5 (FBN 1) :c.7754T>C (p.Ile2585Thr) NM OOO 138.5 (FBN 1) :c.8521G>T (p.Glu284 ITer) NM_000138.5(FBNl):c. 1496G>A (p.Cys499Tyr) NM_000138.5(FBNl):c.958dup (p.Tyr320fs) NM_000138.5(FBNl):c.7955G>A (p.Cys2652Tyr) NM_000138.5(FBNl):c.7606G>A (p.Gly2536Arg) NM OOO 138.5 (FBN 1) :c.7180C>T (p. Arg2394Ter) NM OOO 138.5 (FBN 1) :c.7168T>C (p.Cys2390Arg) NM OOO 138.5 (FBN 1) :c.6658C>T (p. Arg2220Ter) NM_000138.5(FBNl):c.6515_6516delmsG (p.Val2172fs) NM_000138.5(FBNl):c.6446A>G (p.Tyr2149Cys) NM_000138.5(FBNl):c.643C>T (p.Arg215Ter)

[1591] NM OOO 138.5 (FBN 1) :c.6379+ 1G>A NM_000138.5(FBNl):c.6119G>A (p.Cys2040Tyr) NM OOO 138.5 (FBN 1) :c.5840G>A (p.Cys 1947Tyr) NM_000138.5(FBNl):c.5788+5G>A NM_000138.5(FBNl):c.5863C>T (p.Glnl955Ter) NM_000527.5(LDLR):c.979del (p.His327fs)

[1592] NM_000527.5(LDLR):c.427T>A (p.Cysl43Ser)

[1593] NM_000527.5(LDLR):c.940+3_940+6del

[1594] NM_000527.5(LDLR):c. 1284del (p.Asn428fs)

[1595] NM_000527.5(LDLR):c.966del (p.Asn322fs)

[1596] NM_000527.5(LDLR):c.779_782del (p.Asp260fs)

[1597] NM_000527.5(LDLR):c.974G>C (p.Cys325Ser)

[1598] NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)

[1599] NM_000527.5(LDLR):c. 1987+2T>G

[1600] NM_000527.5(LDLR):c.l382del (p.Gly461fs)

[1601] NM_000527.5(LDLR):c.922G>T (p.Glu308Ter)

[1602] NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)

[1603] NM_000527.5(LDLR):c.244_246del (p.Cys82del)

[1604] NM_000527.5(LDLR):c.973T>C (p.Cys325Arg)

[1605] NM_000527.5(LDLR):c.30G>A (p.TrplOTer)

[1606] NM_000527.5(LDLR):c. 185 Idel (p.Val618fs)

[1607] NM_000527.5(LDLR):c.974G>T (p.Cys325Phe)

[1608] NM_000527.5(LDLR):c.694+lG>C

[1609] NM_000527.5(LDLR):c. 1118G>C (p.Gly373Ala)

[1610] NM_000527.5(LDLR):c. 1659C>G (p.Tyr553Ter)

[1611] NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)

[1612] NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)

[1613] NM_000527.5(LDLR):c.428G>T (p.Cysl43Phe)

[1614] NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)

[1615] NM_000527.5(LDLR):c. 1808dup (p.Arg604fs)

[1616] NM_000527.5(LDLR):c. 1867dup (p.Ile623fs)

[1617] NM_000527.5(LDLR):c. 1757C>G (p.Ser586Ter)

[1618] NM_000527.5(LDLR):c. 1705+ldel

[1619] NM_000527.5(LDLR):c. 1046dup (p.Arg35Ofs)

[1620] NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)

[1621] NM_000527.5(LDLR):c.479G>T (p.Cys 160Phe)

[1622] NM_000527.5(LDLR):c.67+lG>T

[1623] NM_000527.5(LDLR):c.2274del (p.Leu759fs)

[1624] NM_000527.5(LDLR):c. 1438G>A (p.Ala480Thr)

[1625] NM_000527.5(LDLR):c. 1413_1414delinsGGACAT (p.Gln474fs)

[1626] NM_000527.5(LDLR):c.378del (p.Phel26fs)

[1627] NM_000527.5(LDLR):c.337dup (p.Glul 13fs)

[1628] NM_000527.5(LDLR):c. 172G>T (p.Glu58Ter)

[1629] NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)

[1630] NM_000527.5(LDLR):c. 1988-1G>A

[1631] NM_000527.5(LDLR):c. 1739C>T (p.Ser58OPhe)

[1632] NM_000527.5(LDLR):c. 1130G>T (p.Cys377Phe)

[1633] NM_000527.5(LDLR):c. 1540G>T (p.Glu514Ter)

[1634] NM_000527.4(LDLR):c.2312-?_2389+?del

[1635] NM_000527.5(LDLR):c.542C>T (p.Prol81Leu)

[1636] NM_000527.5(LDLR):c.67+lG>A

[1637] NM_000527.5(LDLR):c.2270del (p.Pro757fs)

[1638] NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)

[1639] NM_000527.5(LDLR):c. 1678A>T (p.Ile560Phe)

[1640] NM_000527.5(LDLR):c. 1130del (p.Cys377fs)

[1641] NM_000527.5(LDLR):c.829G>T (p.Glu277Ter)

[1642] NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs)

[1643] NM_000527.5(LDLR):c.417C>A (p.Aspl39Glu)

[1644] NM_000527.5(LDLR):c. 190+5G>A

[1645] NM_000527.5(LDLR):c.680_682delmsCGGTATGGACTGCA (p.Asp227fs)

[1646] NM_000527.5(LDLR):c. 17O6-1G>C

[1647] NM_000527.5(LDLR):c. 1439C>T (p.Ala480Val)

[1648] NM_000527.5(LDLR):c.313+3 A>C

[1649] NC_000019.9:g.(?_11230768)_(11240346_?)dup NM_000527.4(LDLR):c.l846-?_2311+?del

[1650] NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)

[1651] NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)

[1652] NM_000527.5(LDLR):c.6810A (p.Asp227Glu)

[1653] NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)

[1654] NM_000527.5(LDLR):c.2068dup (p.His690fs)

[1655] NM_000527.5(LDLR):c. 1988-2A>G

[1656] NM_000527.5(LDLR):c. 1730G>A (p.Trp577Ter)

[1657] NM_000527.5(LDLR):c. 1529del (p.Thr5 lOfs)

[1658] NM_000527.5(LDLR):c. 1315A>T (p.Asn439Tyr)

[1659] NM_000527.5(LDLR):c. 1256A>G (p.Tyr419Cys)

[1660] NM_000527.5(LDLR):c. 1187del

[1661] NM_000527.5(LDLR):c.940_940+14del

[1662] NM_000527.5(LDLR):c.743G>C (p.Cys248Ser)

[1663] NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)

[1664] NM_000527.5(LDLR):c.681del (p.Asp227fs)

[1665] NM_000527.5(LDLR):c.680_692del (p.Asp227fs)

[1666] NM_000527.5(LDLR):c.503A>C (p.Aspl68Ala)

[1667] NM_000527.5(LDLR):c.383G>A (p.Cysl28Tyr)

[1668] NM_000527.5(LDLR):c.377T>C (p.Phel26Ser)

[1669] NM_000527.5(LDLR):c.327C>A (p.Cysl09Ter)

[1670] NM_000527.5(LDLR):c.202T>C (p.Cys68Arg)

[1671] NM_000527.5(LDLR):c. 191T>A (p.Leu64Ter)

[1672] NM_000527.5(LDLR):c.467del (p.Asnl56fs)

[1673] NM_000527.5(LDLR):c. 1878del (p.Ala627fs)

[1674] NM_000527.5(LDLR):c.340_344del (p.Phel 14fs)

[1675] NM_000527.5(LDLR):c. 191 Idel (p.Asp638fs)

[1676] NM_000527.5(LDLR):c.905del (p.Cys302fs)

[1677] NM_000527.5(LDLR):c.233del (p.Arg78fs)

[1678] NM_000527.5(LDLR):c.820del (p.Thr274fs)

[1679] NM_000527.5(LDLR):c. 1060+2T>G

[1680] NM_000527.5(LDLR):c.695-lG>A

[1681] NM_000527.5(LDLR):c.68-lG>A

[1682] NM_000527.5(LDLR):c. 1255T>G (p.Tyr419Asp)

[1683] NM_000527.5(LDLR):c. 1091G>A (p.Cys364Tyr)

[1684] NM_000527.5(LDLR):c.428G>C (p.Cys 143Ser)

[1685] NM_000527.5(LDLR):c.520G>T (p.Glul74Ter)

[1686] NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)

[1687] NM_000527.5(LDLR):c. 1102T>C (p.Cys368Arg)

[1688] NM_000527.4(LDLR):c.2312-?_*2514del

[1689] NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del)

[1690] NM_000527.5(LDLR):c.2547+lG>A

[1691] NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)

[1692] NM_000527.5(LDLR):c.2544dup (p.Ser849fs)

[1693] NM_000527.5(LDLR):c.2509del (p.His837fs)

[1694] NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)

[1695] NM_000527.5(LDLR):c.2478del (p.Val827fs)

[1696] NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)

[1697] NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)

[1698] NM_000527.5(LDLR):c.2431A>T (p.Lys81 ITer)

[1699] NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)

[1700] NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)

[1701] NM_000527.5(LDLR):c.2416del (p.Val806fs)

[1702] NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)

[1703] NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)

[1704] NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)

[1705] NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del)

[1706] NM_000527.5(LDLR):c.2390-lG>C

[1707] NM_000527.5(LDLR):c.2390-lG>A NM_000527.5(LDLR):c.2390-2A>G

[1708] NM_000527.5(LDLR):c.2389+lG>T

[1709] NM_000527.5(LDLR):c.2389+lG>A

[1710] NM_000527.5(LDLR):c.2385del (p.Ile796fs)

[1711] NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs) c.(2311+ l_2312-l)_*807del c.(2311+l_2312-l)_(2547+l_2548-l)dup NM_000527.5(LDLR):c.2311+2T>G

[1712] NM_000527.5(LDLR):c.2311+lG>T

[1713] NM_000527.5(LDLR):c.2311+lG>A

[1714] NM_000527.5(LDLR):c.2266del (p.Thr756fs) NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) NM_000527.5(LDLR):c.2207dup (p.Arg737fs) NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs)

[1715] NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)

[1716] NM_000527.5(LDLR):c.2184del (p.Arg728fs)

[1717] NM_000527.5(LDLR):c.2178del (p.Val727fs)

[1718] NM_000527.5(LDLR):c.2167del (p.Glu723fs)

[1719] NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)

[1720] NM_000527.5(LDLR):c.2140+2T>C

[1721] NM_000527.5(LDLR):c.2140+lG>T

[1722] NM_000527.5(LDLR):c.2132G>A (p.Cys71 ITyr)

[1723] NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) NM_000527.5(LDLR):c.2096del (p.Pro699fs) NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)

[1724] NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr) NM_000527.5(LDLR):c.2092del (p.Cys698fs) NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp) NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr)

[1725] NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) NM_000527.5(LDLR):c.2068del (p.His690fs)

[1726] NM_000527.5(LDLR):c.2063dup (p.Asn688fs)

[1727] NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) NM_000527.5(LDLR):c.2054del (p.Pro685fs) NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)

[1728] NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)

[1729] NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)

[1730] NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)

[1731] NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs) NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) NM 000527.5(LDLR) :c.2015del (p.Leu672fs)

[1732] NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)

[1733] NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe) NM_000527.5(LDLR):c. 1999T>C (p.Cys667Arg) NM_000527.5(LDLR):c. 1998G>A (p.Trp666Ter)

[1734] NM_000527.5(LDLR):c. 1997G>A (p.Trp666Ter)

[1735] NM_000527.5(LDLR):c. 1988-2A>T

[1736] NM_000527.5(LDLR):c. 1979A>G (p.Gln660Arg)

[1737] NM_000527.5(LDLR):c. 1973T>C (p.Leu658Pro)

[1738] NM_000527.5(LDLR):c. 1964del (p.Phe655fs)

[1739] NM_000527.5(LDLR):c. 1961_1965dup (p.His656fs) NM_000527.5(LDLR):c. 1948_1952dup (p.Asp65 Ifs) NM_000527.5(LDLR):c. 1936del (p.Leu646fs) NM_000527.5(LDLR):c. 1934dup (p.Asn645fs)

[1740] NM_000527.5(LDLR):c. 1898G>T (p.Arg633Leu)

[1741] NM_000527.5(LDLR):c. 1886T>G (p.Phe629Cys)

[1742] NM_000527.5(LDLR):c. 1886del (p.Phe629fs)

[1743] NM_000527.5(LDLR):c. 1880C>T (p.Ala627Val)

[1744] NM_000527.5(LDLR):c. 1879G>A (p.Ala627Thr)

[1745] NM_000527.5(LDLR):c. 1868TCA[1] (p.Ile624del)

[1746] NM_000527.5(LDLR):c. 1865A+C (p.Asp622Ala)

[1747] NM_000527.5(LDLR):c. 1864G>A (p.Asp622Asn)

[1748] NM_000527.5(LDLR):c. 1862C>G (p.Thr621Arg)

[1749] NM_000527.5(LDLR):c. 1860G>C (p.Trp620Cys)

[1750] NM_000527.5(LDLR):c. 1860G>A (p.Trp620Ter)

[1751] NM_000527.5(LDLR):c. 1859G>A (p.Trp620Ter)

[1752] NM_000527.5(LDLR):c. 1846-1G>A c.( 1845+ 1 1846- 1)_(*2514_?)del

[1753] FH London 1

[1754] NM_000527.5(LDLR):c. 1845+2T+C

[1755] NM_000527.5(LDLR):c. 1845+1G+T

[1756] NM_000527.5(LDLR):c. 1845+1G+C

[1757] NM_000527.5(LDLR):c. 1845+1G+A

[1758] NM_000527.5(LDLR):c. 1845+ldel

[1759] NM_000527.5(LDLR):c. 1844A+T (p.Glu615Val)

[1760] NM_000527.5(LDLR):c. 1833G+T (p.Leu61 IPhe)

[1761] NM_000527.5(LDLR):c. 1833G+C (p.Leu61 IPhe)

[1762] NM_000527.5(LDLR):c. 1829C+T (p.Ser610Phe)

[1763] NM_000527.5(LDLR):c. 1829C+G (p.Ser610Cys)

[1764] NM_000527.5(LDLR):c. 1829 183 Idel (p.Ser610del)

[1765] NM_000527.5(LDLR):c. 1823C+T (p.Pro608Leu)

[1766] NM_000527.5(LDLR):c. 1823C+G (p.Pro608Arg)

[1767] NM_000527.5(LDLR):c. 1822C+T (p.Pro608Ser)

[1768] NM 000527.5(LDLR) :c. 1815 1825del (p. Ala606fs)

[1769] NM_000527.5(LDLR):c. 1813C+T (p.Leu605=)

[1770] NM_000527.5(LDLR):c. 1802A+T (p.Asp601Val)

[1771] NM_000527.5(LDLR):c. 1798G >T (p.Glu600Ter)

[1772] NM_000527.5(LDLR):c. 1784_1790del (p.Arg595fs)

[1773] NM_000527.5(LDLR):c. 1778del (p.Gly593fs)

[1774] NM_000527.5(LDLR):c. 1756del (p.Ser586fs)

[1775] NM_000527.5(LDLR):c. 1752del (p.Ile585fs)

[1776] NM_000527.5(LDLR):c. 1749_1753del (p.Ser584fs)

[1777] NM_000527.5(LDLR):c. 1748A+G (p.His583Arg)

[1778] NM_000527.5(LDLR):c. 1737del (p.Ser580fs)

[1779] NM_000527.5(LDLR):c. 1736A+G (p.Asp579Gly)

[1780] NM_000527.5(LDLR):c. 173 OG >C (p.Trp577Ser)

[1781] NM_000527.5(LDLR):c. 1729'1 »C (p.Trp577Arg)

[1782] NM_000527.5(LDLR):c. 1727A+G (p.Tyr576Cys)

[1783] NM_000527.5(LDLR):c. 1718del (p.Gly573fs)

[1784] NM_000527.5(LDLR):c. 1706-1G+T

[1785] NM_000527.5(LDLR):c. 1706-1G+A

[1786] NM_000527.5(LDLR):c. 1706-2A+C

[1787] NM_000527.5(LDLR):c.l705+2_1705+3insC

[1788] NM_000527.5(LDLR):c.l705+lG>T

[1789] NM_000527.5(LDLR):c.l705+lG>C

[1790] NM_000527.5(LDLR):c. 1703T+C (p.Leu568Pro)

[1791] NM_000527.5(LDLR):c. 1702C+G (p.Leu568Val)

[1792] NM_000527.5(LDLR):c. 1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)

[1793] NM_000527.5(LDLR):c. 1689dup (p.Asn564fs)

[1794] NM_000527.5(LDLR):c. 1687C+T (p.Pro563Ser)

[1795] NM_000527.5(LDLR):c. 1686G+A (p.Trp562Ter)

[1796] NM_000527.5(LDLR):c. 1681C>T (p.Gln561Ter) NM_000527.5(LDLR):c. 1672G>T (p.Glu558Ter)

[1797] NM_000527.5(LDLR):c. 1664T>C (p.Leu555Pro)

[1798] NM_000527.5(LDLR):c. 1662_1669dup (P.Thr557delinsSerTrpTer)

[1799] NM_000527.5(LDLR):c. 1659_1661delmsATACTTTCA (p.Tyr553_Ser554delinsTer)

[1800] NM_000527.5(LDLR):c. 1644T>G (p.Asn548Lys)

[1801] NM_000527.5(LDLR):c. 1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs)

[1802] NM_000527.5(LDLR):c. 1637G>T (p.Gly546Val)

[1803] NM_000527.5(LDLR):c. 1636G>C (p.Gly546Arg)

[1804] NM_000527.5(LDLR):c. 1634G>A (p.Gly545Glu)

[1805] NM_000527.5(LDLR):c. 1633G>T (p.Gly545Trp)

[1806] NM_000527.5(LDLR):c. 1633G>C (p.Gly545Arg)

[1807] NM_000527.5(LDLR):c. 1633G>A (p.Gly545Arg)

[1808] NM_000527.5(LDLR):c. 1632del (p.Gly546fs)

[1809] NM_000527.5(LDLR):c. 1629_1652del (p.Lys543_Asp551delinsAsn)

[1810] NM_000527.5(LDLR):c. 1625T>G (p.Ile542Ser)

[1811] NM_000527.5(LDLR):c. 1610del (p.Gly537fs)

[1812] NM_000527.5(LDLR):c. 1609G>T (p.Gly537Ter)

[1813] NM_000527.5(LDLR):c. 1607G>A (p.Trp536Ter)

[1814] NM_000527.5(LDLR):c. 1606T>G (p.Trp536Gly)

[1815] NM_000527.5(LDLR):c. 1599G>A (p.Trp533Ter)

[1816] NM_000527.5(LDLR):c. 1597T>C (p.Trp533Arg)

[1817] NM_000527.5(LDLR):c. 1587-1G>A

[1818] NM_000527.5(LDLR):c. 1587-2A+T

[1819] NM_000527.5(LDLR):c. 1587-2A+G

[1820] NM_000527.5(LDLR):c. 1586+2T+C

[1821] NM_000527.5(LDLR):c. 1586+2T+A

[1822] NM_000527.5(LDLR):c. 1586+1G>A

[1823] NM_000527.5(LDLR):c. 1571T>G (p.Val524Gly)

[1824] NM_000527.5(LDLR):c. 1558A+G (p.Arg520Gly)

[1825] NM_000527.5(LDLR):c. 1555C>T (p.Pro519Ser)

[1826] NM_000527.5(LDLR):c. 1549_1555del (p.Ser517fs)

[1827] NM_000527.5(LDLR):c. 1533dup (p.Phe512fs)

[1828] NM_000527.5(LDLR):c. 1525A+G (p.Lys509Glu)

[1829] NM_000527.5(LDLR):c. 1514G>A (p.Gly505Asp)

[1830] NM_000527.5(LDLR):c. 1510A>T (p.Lys504Ter)

[1831] NM_000527.5(LDLR):c. 1502dup (p.Asp502fs)

[1832] NM_000527.5(LDLR):c. 1502C>T (p.Ala501Val)

[1833] NM_000527.5(LDLR):c. 1498_1499del (p.Val5OOfs)

[1834] NM_000527.5(LDLR):c. 1496_1497del (p.Ser499fs)

[1835] NM_000527.5(LDLR):c. 1489A>C (p.Thr497Pro)

[1836] NM_000527.5(LDLR):c. 1487G>T (p.Gly496Val)

[1837] NM_000527.5(LDLR):c. 1477_1479delinsAGAGACA (p.Ser493fs)

[1838] NM_000527.5(LDLR):c. 1475A>G (p.Asp492Gly)

[1839] NM_000527.5(LDLR):c. 1474G>C (p.Asp492His)

[1840] NM_000527.5(LDLR):c. 1466A>G (p.Tyr489Cys)

[1841] NM_000527.5(LDLR):c. 1463T>A (p.Ile488Asn)

[1842] NM_000527.5(LDLR):c. 1449G>A (p.Trp483Ter)

[1843] NM_000527.5(LDLR):c. 1445A>G (p.Asp482Gly)

[1844] NM_000527.5(LDLR):c. 1436T>C (p.Leu479Pro)

[1845] NM_000527.5(LDLR):c. 1434del (p.Leu479fs)

[1846] NM_000527.5(LDLR):c. 1423_1424delinsA (p.Ala475fs)

[1847] NM_000527.5(LDLR):c. 1415_1418dup (p.Gln474fs)

[1848] NM_000527.5(LDLR):c. 1392del (p.Tyr465fs)

[1849] NM_000527.5(LDLR):c. 1377_1380del (p.His460fs)

[1850] NM_000527.5(LDLR):c. 1374_1375del (p.Arg458fs)

[1851] NM_000527.5(LDLR):c. 1367_1376del (p.Leu456fs)

[1852] NM_000527.5(LDLR):c. 1363del (p.Gln455fs)

[1853] NM_000527.5(LDLR):c. 1359-1G>C

[1854] NM_000527.5(LDLR):c. 1358+ 1G>A NM_000527.5(LDLR):c. 1352T>C (p.Ile45 IThr)

[1855] NM_000527.5(LDLR):c. 1351A>T (p.Ile45 IPhe)

[1856] NM_000527.5(LDLR):c. 1343del (p.Gln448fs)

[1857] NM_000527.5(LDLR):c. 1342OT (p.Gln448Ter)

[1858] NM_000527.5(LDLR):c. 1336del (p.Leu446fs)

[1859] NM_000527.5(LDLR):c. 1329G>T (p.Trp443Cys)

[1860] NM_000527.5(LDLR):c. 1329G>C (p.Trp443Cys)

[1861] NM_000527.5(LDLR):c. 1329G>A (p.Trp443Ter)

[1862] NM_000527.5(LDLR):c. 1328G>A (p.Trp443Ter)

[1863] NM_000527.5(LDLR):c. 1326C>G (p.Tyr442Ter)

[1864] NM_000527.5(LDLR):c. 1325A>G (p.Tyr442Cys)

[1865] NM_000527.5(LDLR):c. 1306del (p.Val436fs)

[1866] NM_000527.5(LDLR):c. 1295T>C (p.Leu432Pro)

[1867] NM_000527.5(LDLR):c. 1285G>T (p.Val429Leu)

[1868] NM_000527.5(LDLR):c. 1274A>T (p.Asn425Ile)

[1869] NM_000527.5(LDLR):c. 1268T>C (p.Ile423Thr)

[1870] NM_000527.5(LDLR):c. 1257C>G (p.Tyr419Ter)

[1871] NM_000527.5(LDLR):c. 1257C>A (p.Tyr419Ter)

[1872] NM_000527.5(LDLR):c. 1252G>T (p.Glu418Ter)

[1873] NM_000527.5(LDLR):c. 1247G>T (p.Arg416Leu)

[1874] NM_000527.5(LDLR):c. 1247G>C (p.Arg416Pro)

[1875] NM_000527.5(LDLR):c. 1243G>C (p.Asp415His)

[1876] NM_000527.5(LDLR):c. 1235T>C (p.Met412Thr)

[1877] NM_000527.5(LDLR):c. 1231A>G (p.Lys411Glu)

[1878] NM_000527.5(LDLR):c. 1215C>G (p.Asn405Lys)

[1879] NM_000527.5(LDLR):c. 1211C>T (p.Thr404Ile)

[1880] NM_000527.5(LDLR):c. 1209del (p.Phe403fs)

[1881] NM_000527.5(LDLR):c. 1208del (p.Phe403fs)

[1882] NM_000527.5(LDLR):c. 1206_1207del (p.Phe403fs)

[1883] NM_000527.5(LDLR):c. 1200C>A (p.Tyr400Ter)

[1884] NM_000527.5(LDLR):c. 1187-1G>T

[1885] NM_000527.5(LDLR):c. 1187-1G>A

[1886] FH Reykjavik

[1887] NM_000527.5(LDLR):c. 1187-2A>G

[1888] NM_000527.4(LDLR):c.1187-169 2312-790del

[1889] NM_000527.4(LDLR):c.l l86+700_2141-545del

[1890] NM_000527.5(LDLR):c. 1186+1G>A

[1891] NM_000527.5(LDLR):c. 1178del (p.Lys393fs)

[1892] NM_000527.5(LDLR):c. 1174T>C (p.Cys392Arg)

[1893] NM_000527.5(LDLR):c. 1151A>C (p.Gln384Pro)

[1894] NM_000527.5(LDLR):c.l 151 1159del (p.Gln384_Asp386del)

[1895] NM_000527.5(LDLR):c. 1150C>T (p.Gln384Ter)

[1896] NM_000527.5(LDLR):c. 1136G>A (p.Cys379Tyr)

[1897] NM_000527.5(LDLR):c. 1135T>C (p.Cys379Arg)

[1898] NM_000527.5(LDLR):c. 1132C>T (p.Gln378Ter)

[1899] NM_000527.5(LDLR):c. 1130G>C (p.Cys377Ser)

[1900] NM_000527.5(LDLR):c. 1130G>A (p.Cys377Tyr)

[1901] NM_000527.5(LDLR):c. 1124A>G (p.Tyr375Cys)

[1902] NM_000527.5(LDLR):c. 1120_1123dup (p.Tyr375fs)

[1903] NM_000527.5(LDLR):c. 1118G>T (p.Gly373Val)

[1904] NM_000527.5(LDLR):c. 1118G>A (p.Gly373Asp)

[1905] NM_000527.5(LDLR):c. 1117G>T (p.Gly373Cys)

[1906] NM_000527.5(LDLR):c. 1109A>C (p.Asn370Thr)

[1907] NM_000527.5(LDLR):c. 1104C>A (p.Cys368Ter)

[1908] NM_000527.5(LDLR):c. 1103G>C (p.Cys368Ser)

[1909] NM_000527.5(LDLR):c. 1099_1104delinsGT (p.Leu367fs)

[1910] NM_000527.5(LDLR):c. 1096C>T (p.Gln366Ter)

[1911] NM_000527.5(LDLR):c. 1091G>C (p.Cys364Ser)

[1912] NM_000527.5(LDLR):c. 1085del (p.Asp362fs) NM_000527.5(LDLR):c.916_919dup (p.Asp307fs)

[1913] NM_000527.5(LDLR):c.914G>A (p.Trp305Ter)

[1914] NM_000527.5(LDLR):c.9060G (p.Cys302Trp)

[1915] NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)

[1916] NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)

[1917] NM_000527.5(LDLR):c.896del (p.Ala299fs)

[1918] NM_000527.5(LDLR):c.888C>A (p.Cys296Ter)

[1919] NM_000527.5(LDLR):c.884del (p.Val295fs)

[1920] NM_000527.5(LDLR):c.881_882del (p.Lys294fs)

[1921] NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)

[1922] NM_000527.5(LDLR):c.875dup (p.Asp293fs)

[1923] NM_000527.5(LDLR):c.874del (p.Leu292fs)

[1924] NM_000527.5(LDLR):c.865del (p.Cys289fs)

[1925] NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)

[1926] NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)

[1927] NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)

[1928] NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)

[1929] NM_000527.5(LDLR):c.825_826del (p.Cys276fs)

[1930] NM_000527.5(LDLR):c.818-lG>A c.(817+l_818-l)_(1186+l_1187-l)del

[1931] NM_000527.5(LDLR):c.817+lG>A

[1932] NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)

[1933] NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)

[1934] NM_000527.5(LDLR):c.801A>T (p.Glu267Asp)

[1935] NM_000527.5(LDLR):c.781del (p.Cys261fs)

[1936] NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)

[1937] NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)

[1938] NM_000527.5(LDLR):c.763T>A (p.Cys255Ser)

[1939] NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)

[1940] NM_000527.5(LDLR):c.752dup (p.Ser252fs)

[1941] NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)

[1942] NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)

[1943] NM_000527.5(LDLR):c.705dup (p.Cys236fs)

[1944] NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del)

[1945] NM_000527.5(LDLR):c.695-lG>T

[1946] NM_000527.5(LDLR):c.695-67_1586+371del

[1947] NM_000527.5(LDLR):c.694+lG>T

[1948] NM_000527.5(LDLR):c.694+lG>A

[1949] NM_000527.5(LDLR):c.693_694+20del

[1950] NM_000527.5(LDLR):c.692G>A (p.Cys23 ITyr)

[1951] NM_000527.5(LDLR):c.691T>G (p.Cys23 IGly)

[1952] NM_000527.5(LDLR):c.691T>C (p.Cys23 lArg)

[1953] NM_000527.5(LDLR):c.683A>C (p.Glu228Ala)

[1954] NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)

[1955] NM_000527.5(LDLR):c.682del (p.Glu228fs)

[1956] NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)

[1957] NM_000527.5(LDLR):c.680A>T (p.Asp227Val)

[1958] NM_000527.4(LDLR):c.680_682delACGinsl4 (p.?)

[1959] NM_000527.5(LDLR):c.677C>G (p.Ser226Cys)

[1960] NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)

[1961] NM_000527.5(LDLR):c.675del (p.Lys225fs)

[1962] NM_000527.5(LDLR):c.675_681dup (P.Glu228delinsIleTer)

[1963] NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)

[1964] NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup)

[1965] NM_000527.5(LDLR):c.671A>T (p.Asp224Val)

[1966] NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)

[1967] NM_000527.5(LDLR):c.669G>C (p.Lys223Asn)

[1968] NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)

[1969] NM_000527.5(LDLR):c.668_681dup (p.Glu228fs) NM OOO 527.5 (LDLR) :c.667 693 del (p .Lys223_Cys231 del) NM_000527.5(LDLR):c.6660G (p.Cys222Trp) NM_000527.5(LDLR):c.6660A (p.Cys222Ter) NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer) NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) NM_000527.5(LDLR):c.662A>T (p.Asp221Val) NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) NM_000527.5(LDLR):c.655_657del (p.Gly219del) NM_000527.5(LDLR):c.651_687del (p.Asp217fs) NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del) NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) NM_000527.5(LDLR):c.646del (p.Cys216fs) NM_000527.5(LDLR):c.6430A (p.Arg215Ser) NM_000527.5(LDLR):c.641G>C (p.Trp214Ser)

[1970] NM_000527.5(LDLR):c.632_634del (p.His21 l_Ser212delinsPro) NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) NM_000527.5(LDLR):c.625_626dup (p.Ile210fs) NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) NM_000527.5(LDLR):c.617del (p.Ser206fs) NM_000527.5(LDLR):c.616dup (p.Ser206fs)

[1971] NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr) NM_000527.5(LDLR):c.609del (p.Cys204fs) NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) NM_000527.5(LDLR):c.5930A (p.Serl98Ter) NM_000527.5(LDLR):c.5910G (p.Cys 197Trp) NM_000527.5(LDLR):c.589T>G (p.Cys 197Gly) NM 000527.5 (LDLR) :c.581 582ins A (p. Ser 194fs) NM_000527.5(LDLR):c.578del (p.Aspl93fs) NM_000527.5(LDLR):c.5710T (p.Glnl91Ter) NM_000527.5(LDLR):c.568_590del (p.Phel90fs) NM_000527.5(LDLR):c.5640A (p.Tyrl88Ter) NM_000527.5(LDLR):c.562del (p.Tyrl88fs) NM_000527.5(LDLR):c.557del (p.Glyl86fs) NM_000527.5(LDLR):c.550T>C (p.Cysl84Arg) NM_000527.5(LDLR):c.5440T (p.Glnl82Ter) NM 000527.5 (LDLR) :c.539G> A (p.Trp 180Ter) NM_000527.5(LDLR):c.535G>T (p.Glul79Ter) NM_000527.5(LDLR):c.534T>G (p.Aspl78Glu) NM_000527.5(LDLR):c.533A>G (p.Aspl78Gly) NM_000527.5(LDLR):c.532G>C (p.Aspl78His) NM_000527.5(LDLR):c.532G>A (p.Aspl78Asn) NM_000527.5(LDLR):c.532_533insT (p.Aspl78fs) NM_000527.5(LDLR):c.527G>T (p.Glyl76Val) NM_000527.5(LDLR):c.526_533dup (p.Aspl78fs) NM_000527.5(LDLR):c.519OG (p.Cys 173Trp) NM_000527.5(LDLR):c.5190 A (p.Cysl73Ter) NM_000527.5(LDLR):c.518del (p.Cys 173fs) NM_000527.5(LDLR):c.517T>G (p.Cys 173Gly) NM_000527.5(LDLR):c.517T>C (p.Cysl73Arg) NM_000527.5(LDLR):c.5160G (p.Aspl72Glu) NM_000527.5(LDLR):c.515A>G (p.Aspl72Gly) NM_000527.5(LDLR):c.514G>T (p.Aspl72Tyr) NM_000527.5(LDLR):c.514G>C (p.Aspl72His) NM_000527.5(LDLR):c.514G>A (p.Aspl72Asn) NM_000527.5(LDLR):c.513dup (p.Aspl72fs) NM_000527.5(LDLR):c.513del (p.Aspl72fs)

[1972] NM 000527.5 (LDLR) : c.503 A>G (p . Asp 168Gly) NM_000527.5(LDLR):c.502G>T (p.Aspl68Tyr) NM_000527.5(LDLR):c.502G>C (p.Aspl68His) NM_000527.5(LDLR):c.5010G (p.Cys 167Trp) NM_000527.5(LDLR):c.500G>A (p.Cysl67Tyr) NM_000527.5(LDLR):c.499T>C (p.Cysl67Arg) NM 000527.5 (LDLR) : c.495 G> A (p . Trp 165 Ter) NM_000527.5(LDLR):c.485C>T (p.Prol62Leu) NM_000527.5(LDLR):c.482_488del (p.Ilel61fs) NM_000527.5(LDLR):c.478T>G (p.Cys 160Gly) NM_000527.5(LDLR):c.478T>C (p.Cysl60Arg) NM_000527.5(LDLR):c.4730G (p.Serl58Cys) NM_000527.5(LDLR):c.472del (p.Serl58fs) NM OOO 527.5 (LDLR) : c.465 O A (p . Cys 155 Ter) NM_000527.5(LDLR):c.464G>T (p.Cys 155Phe) NM_000527.5(LDLR):c.464G>A (p.Cysl55Tyr) NM_000527.5(LDLR):c.463T>G (p.Cys 155Gly) NM_000527.5(LDLR):c.463T>C (p.Cysl55Arg) NM_000527.5(LDLR):c.4600T (p.Glnl54Ter) NM_000527.5(LDLR):c.457T>G (p.Phel53Val) NM_000527.5(LDLR):c.451_453del (p.Alal51del) NM_000527.5(LDLR):c.450dup (p.Alal5 Ifs) NM_000527.5(LDLR):c.443G>C (p.Cys 148Ser) NM_000527.5(LDLR):c.443G>A (p.Cys 148Tyr) NM_000527.5(LDLR):c.442T>C (p.Cysl48Arg) NM_000527.5(LDLR):c.428G>A (p.Cys 143Tyr) NM_000527.5(LDLR):c.427T>C (p.Cysl43Arg) NM_000527.5(LDLR):c.424_430del (p.Serl42fs) NM_000527.5(LDLR):c.420G>T (p.Glu!40Asp) NM_000527.5(LDLR):c.420G>C (p.Glul40Asp) NM_000527.5(LDLR):c.419A>G (p.Glul40Gly) NM_000527.5(LDLR):c.418G>T (p.Glul40Ter) NM_000527.5(LDLR):c.416A>T (p.Aspl39Val) NM_000527.5(LDLR):c.416A>G (p.Aspl39Gly) NM OOO 527.5 (LDLR) :c.415G>A (p.Aspl39Asn) NM_000527.5(LDLR):c.4130G (p.Serl38Ter) NM_000527.5(LDLR):c.407A>T (p.Aspl36Val) NM_000527.5(LDLR):c.401G>T (p.Cys 134Phe) NM_000527.5(LDLR):c.401G>A (p.Cysl34Tyr) NM_000527.5(LDLR):c.382T>C (p.Cys 128Arg) NM_000527.5(LDLR):c.382_385del (p.Cys 128fs) NM_000527.5(LDLR):c.374_375insCTGA (p.Glnl25delinsHisTer) NM_000527.5(LDLR):c.3730T (p.Glnl25Ter) NM_000527.5(LDLR):c.369_393del (p.Argl24fs) NM_000527.5(LDLR):c.369_370del (p.Argl24fs) NM_000527.5(LDLR):c.362G>C (p.Cys 121Ser) NM_000527.5(LDLR):c.361T>C (p.Cys 121Arg) NM_000527.5(LDLR):c.353del (p.Aspl 18fs) NM_000527.5(LDLR):c.350_372dup (p.Glnl25fs)

[1973] NM_000527.5(LDLR):c.347_367del (p.Cysll6_Ilel22del) NM_000527.5(LDLR):c.346T>C (p.Cys 116Arg) NM_000527.5(LDLR):c.339dup (p.Phel 14fs) NM_000527.5(LDLR):c.338_353del (p.Glul 13fs) NM_000527.5(LDLR):c.326G>T (p.Cys 109Phe)

[1974] NM OOO 527.5 (LDLR) : c.324 325 delinsTC (p. Cys 109 Arg) NM_000527.5(LDLR):c.320_332del (p.Lys 107fs) NM_000527.5(LDLR):c.318dup (p.Lys 107fs) NM_000527.5(LDLR):c.316_336del (p.Prol06_Aspll2del) NM_000527.5(LDLR):c.314-1G>A

[1975] FH Vancouver 6

[1976] NM_000527.5(LDLR):c.314-2A>C

[1977] NM_000527.5(LDLR):c.314-446_1187-386dup

[1978] NM_000527.5(LDLR):c.313+5G>T

[1979] NM_000527.5(LDLR):c.313+2T>A NM_000527.5(LDLR):c.313+lG>T NM_000527.5(LDLR):c.313+ldup NM_000527.5(LDLR):c.310T>C (p.CyslO4Arg) NM_000527.5(LDLR):c.310_313del (p.Cysl04fs) NM_000527.5(LDLR):c.303del (p.GlulOlfs) NM_000527.5(LDLR):c.301G>T (p.GlulOlTer)

[1980] NM_000527.5(LDLR):c.2910G (p.Asn97Lys) NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) NM_000527.5(LDLR):c.2670G (p.Cys89Trp) NM_000527.5(LDLR):c.265T>G (p.Cys89Gly)

[1981] NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)

[1982] NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) NM_000527.5(LDLR):c.244del (p.Cys82fs) NM_000527.5(LDLR):c.236dup (p.Asn80fs) NM_000527.5(LDLR):c.232del (p.Arg78fs) NM_000527.5(LDLR):c.230del (p.Gly77fs) NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)

[1983] NM_000527.5(LDLR):c.214del (p.Asp72fs) NM_000527.5(LDLR):c.2040A (p.Cys68Ter) NM_000527.5(LDLR):c. 195_196insAT (p.Val66fs) NM_000527.5(LDLR):c. 191-1G>A

[1984] NM_000527.5(LDLR):c. 191-2delinsCT

[1985] NM_000527.4(LDLR):c. 190+984 1846-1160del

[1986] NM_000527.5(LDLR):c. 190+2T>G

[1987] NM_000527.4(LDLR):c. 190+2_190+3dup

[1988] NM_000527.5(LDLR):c. 19O+1G>T

[1989] NM_000527.5(LDLR):c. 19O+1G>A

[1990] NM_000527.5(LDLR):c. 187T>C (p.Cys63Arg) NM_000527.5(LDLR):c. 157OT (p.Gln53Ter) NM_000527.5(LDLR):c. 155G>A (p.Cys52Tyr)

[1991] NM_000527.5(LDLR):c. 139_144del (p.Asp47_Gly48del)

[1992] NM_000527.5(LDLR):c. 136T>G (p.Cys46Gly) NM_000527.5(LDLR):c. 126OA (p.Tyr42Ter) NM_000527.5(LDLR):c. 118del (p.Ile40fs)

[1993] NM_000527.5(LDLR):c. 117del (P.Lys38_Cys39insTer)

[1994] NM_000527.5(LDLR):c. 116 117delinsAA (p.Cys39Ter)

[1995] NM_000527.5(LDLR):c. 114dup (p.Cys39fs) NM_000527.5(LDLR):c. 108del (p.Asp36fs) NM_000527.5(LDLR):c. 103OT (p.Gln35Ter) NM_000527.5(LDLR):c. 100T>G (p.Cys34Gly) NM_000527.5(LDLR):c.91G>T (p.Glu3 ITer) NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) NM_000527.5(LDLR):c.77_78del (p.Arg26fs)

[1996] NM_000527.5(LDLR):c.68-lG>C NM_000527.5(LDLR):c.68-2A>T NM_000527.5(LDLR):c.68-2A>G NM_000527.4(LDLR):c.67+3968_940+296dup NM_000527.5(LDLR):c.67+2T>A NM_000527.5(LDLR):c.41dup (p.Leul4fs) NM_000527.5(LDLR):c.28T>C (p.TrplOArg) NM_000527.5(LDLR):c.28T>A (p.TrplOArg) NM_000527.5(LDLR):c.9del (p.Trp4fs) NM_000527.4(LDLR):c.-1350G c.(?_-187)_*2584del c.(?_-187)_(940+l_941-l)del c.(?_-187)_(67+l_68-l)del

[1997] NM_000527.5(LDLR):c. 1706-2A>T

[1998] NM_000527.5(LDLR):c. 166T>C (p.Ser56Pro)

[1999] NM_000527.5(LDLR):c. 12G>A (p.Trp4Ter) NM_000527.5(LDLR):c. 1428dup (p.Asp477fs) NM_000527.4(LDLR):c.l l87-?_1586+?del NM_000527.4(LDLR):c.l587-?_1845+?del NM_000527.5(LDLR):c.2292del (p.Ile764fs)

[2000] NM_000527.5(LDLR):c.2271del (p.Leu759fs)

[2001] NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)

[2002] NM_000527.5(LDLR):c.2027del (p.Gly676fs)

[2003] NM_000527.5(LDLR):c. 1954_1955del (p.Met652fs)

[2004] NM_000527.5(LDLR):c. 1897C+T (p.Arg633Cys) NM_000527.5(LDLR):c. 1880C+A (p.Ala627Asp)

[2005] NM_000527.5(LDLR):c. 1845+11OG

[2006] NM_000527.5(LDLR):c.l814T>C (p.Leu605Pro) NM_000527.5(LDLR):c. 1735G T (p.Asp579Tyr) NM_000527.5(LDLR):c. 1731G>A (p.Trp577Ter)

[2007] NM_000527.5(LDLR):c. 1715_1719delinsA (p.Ser572fs)

[2008] NM_000527.5(LDLR):c. 1705+1G+A

[2009] NM_000527.5(LDLR):c. 1694G >C (p.Gly565Ala)

[2010] NM_000527.5(LDLR):c. 1685G+A (p.Trp562Ter) NM_000527.5(LDLR):c. 1469G+A (p.Trp490Ter)

[2011] NM_000527.5(LDLR):c. 1448G+A (p.Trp483Ter)

[2012] NM_000527.5(LDLR):c. 1371_1374dup (p.Ala459fs)

[2013] NM_000527.5(LDLR):c. 1330T+C (p.Ser444Pro)

[2014] NM_000527.5(LDLR):c. 1285G+C (p.Val429Leu)

[2015] NM_000527.5(LDLR):e.1187-10G+A

[2016] NM_000527.5(LDLR):c. 1162del (p.His388fs)

[2017] NM_000527.5(LDLR):c. 1118_1121dup (p.Tyr375fs)

[2018] NM_000527.5(LDLR):c. 1073G+A (p.Cys358Tyr) NM_000527.5(LDLR):c. 1033C+T (p.Gln345Ter) NM_000527.5(LDLR):c.940+2T>C

[2019] NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)

[2020] NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)

[2021] NM_000527.5(LDLR):c.660del (p.Asp221fs) NM_000527.5(LDLR):c.648dup (p.Asp217Ter) NM_000527.5(LDLR)-.c.4290A(p.Cysl43Ter)

[2022] NM_000527.5(LDLR):c.427T>G (p.Cys 143Gly) NM_000527.5(LDLR):c.400T>C (p.Cysl34Arg) NM_000527.5(LDLR):c.337G>T (p.Glull3Ter) NM_000527.5(LDLR):c.326G>A (p.Cys 109Tyr)

[2023] NM_000527.5(LDLR):c.313+2dup

[2024] NM_000527.5(LDLR):c.313 313+ Idel

[2025] NM_000527.5(LDLR):c.311G>A (p.Cys 104Tyr) NM_000527.5(LDLR):c.3040T (p.Glnl02Ter) NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) NM_000527.5(LDLR):c.2530T (p.Gln85Ter) NM_000527.5(LDLR):c.2460A (p.Cys82Ter) NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)

[2026] NM_000135.4(FANCA):c.2738A>C (p.His913Pro)

[2027] NM_000135.4(FANCA):c.3935-lG>T

[2028] NM_000135.4(FANCA):c. 1796_1800dup (p.Val601fs)

[2029] NM_000135.4(FANCA):c.l303C>T (p.Arg435Cys)

[2030] NM_000135.4(FANCA):c.3828+lG>A

[2031] NM_000135.4(FANCA):c.2602-2A>T

[2032] NM_000135.4(FANCA):c.2778+2T>C

[2033] NM OOO 135.4(FANCA):c. 1944del (p.Glu648fs)

[2034] NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)

[2035] NM_000135.4(FANCA):c.283+lG>T

[2036] NM_000135.4(FANCA):c.523-2A>G

[2037] NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)

[2038] NM_000135.4(FANCA):c. 1844dup (p.Ser616fs)

[2039] NM_000135.4(FANCA):c.3761_3762dup (p.Glul255fs)

[2040] NM_000135.4(FANCA):c. l90-2A>T

[2041] NM_000135.4(FANCA):c.2524del (p.Ser842fs)

[2042] NM_000135.4(FANCA):c.3163C>T (p.ArglO55Trp)

[2043] NM_000135.4(FANCA):c.2172dup (p.Ser725fs)

[2044] NM_000135.4(FANCA):c.4198C>T (p.Argl400Cys)

[2045] NM_000135.4(FANCA):c.597-lG>C

[2046] NM_000135.4(FANCA):c.2151+2T>C

[2047] NM_000135.4(FANCA):c.709+2T>C

[2048] NM_000135.4(FANCA):c.2T>C (p.MetlThr)

[2049] NM OOO 135.4(FANCA):c. 1734 1739del (p.Tyr578_Val580delinsTer)

[2050] NM_000135.4(FANCA):c.2982-lG>C

[2051] NM_000135.4(FANCA):c.3696del (p.Phel232fs)

[2052] NM_000135.4(FANCA):c.549G>A (p.Trpl83Ter)

[2053] NM OOO 135.4(FANCA):c.1 A>T (p.MetlLeu)

[2054] NM_000135.4(FANCA):c. 1901-2A>G

[2055] NM_000135.4(FANCA):c. 19O1-1G>A

[2056] NM_000135.4(FANCA):c.3934+2T>C

[2057] NM OOO 135.4(FANCA):c.lA>C (p.MetlLeu)

[2058] NM_000135.4(FANCA):c.l00A>T (p.Lys34Ter)

[2059] NM_000135.4(FANCA):c.3348+lG>A

[2060] NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)

[2061] NM_000135.4(FANCA):c.2981+lG>A

[2062] NM_000135.4(FANCA):c.3239G>A (p.Argl080Gln)

[2063] NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)

[2064] NM_000135.4(FANCA):c.4124_4125del (p.Thrl375fs)

[2065] NM_000135.4(FANCA):c.2812_2830dup (P.Asp944delinsGlyAsnSerThrTer)

[2066] NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)

[2067] NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)

[2068] NM_000135.4(FANCA):c. 1378OT (p.Arg460Ter)

[2069] NM_000135.4(FANCA):c.l lC>A (p.Ser4Ter)

[2070] NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)

[2071] NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)

[2072] NM_000135.4(FANCA):c.523-lG>T

[2073] NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)

[2074] NM_000135.4(FANCA):c.2667del (p.Ser890fs)

[2075] NM_000135.4(FANCA):c.4247C>G (p.Serl416Ter)

[2076] NM_000135.4(FANCA):c. 163C>T (p.Gln55Ter)

[2077] NM_000135.4(FANCA):c. 1777-1G>C

[2078] NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)

[2079] NM_000135.4(FANCA):c. 19O-1G>T

[2080] NM_000135.4(FANCA):c.2853-15_2856del

[2081] NM_000135.4(FANCA):c.4261-2A>C

[2082] NM_000135.4(FANCA):c.2852G>A (p.Arg95 IGln)

[2083] NM_000135.4(FANCA):c.3581C>T (p.Proll94Leu) NM_032043.3(BRIPl):c. 1457dup (p.Pro488fs)

[2084] NM_032043.3(BRIPl):c.2313 2319del (p.Phe771fs)

[2085] NM_032043.3(BRIPl):c. 1078OT (p.Gln360Ter)

[2086] NM_032043.3(BRIPl):c.2741del (p.Ser913_Leu914insTer)

[2087] NM_032043.3(BRIPl):c.2196_2197dup (p.Thr733fs)

[2088] NM_032043.3(BRIPl):c. 1770del (p.Trp592fs)

[2089] NM_032043.3(BRIPl):c. 1072dup (p.Leu358fs)

[2090] NM_032043.3(BRIPl):c.2103del (p.Glu702fs)

[2091] NM_032043.3(BRIPl):c.292_293del (p.Asn97_Asn98msTer)

[2092] NM_032043.3(BRIPl):c.2094C>G (p.Tyr698Ter)

[2093] NM_032043.3(BRIPl):c. 1473+ 1G>C

[2094] NM_032043.3(BRIPl):c.205+2T>C

[2095] NM_032043.3(BRIPl):c.2714del (p.Asn905fs)

[2096] NM_032043.3(BRIPl):c.2182C>T (p.Gln728Ter)

[2097] NM_032043.3(BRIPl):c.507+lG>T

[2098] NM_032043.3(BRIPl):c. 1356_1371del (p.Asn452fs)

[2099] NM_032043.3(BRIPl):c. 1378_1379del (p. Asp460fs)

[2100] NM_032043.3(BRIPl):c. 1058dup (p.Tyr353Ter)

[2101] NM_032043.3(BRIPl):c.984_990del (p.Phe328fs)

[2102] NM_032043.3(BRIPl):c.2833G>T (p.Glu945Ter)

[2103] NM_032043.3(BRIPl):c. 1457del (p.Thr486fs)

[2104] NM_032043.3(BRIPl):c.2109del (p.Lys703fs)

[2105] NM_032043.3(BRIPl):c.386dup (p.Prol29_Glul30insTer)

[2106] NM_032043.3(BRIPl):c. 180 Idel (p.Ser601fs)

[2107] NM_032043.3(BRIPl):c.2111T>G (p.Leu704Ter)

[2108] NM_032043.3(BRIPl):c. 1256_1278dup (p. Asn427delinsGlyMetAsnTer)

[2109] NM_032043.3(BRIPl):c.2197del (p.Thr733fs)

[2110] NM_032043.3(BRIPl):c.251T>A (p.Leu84Ter)

[2111] NM_032043.3(BRIPl):c.71dup (p.Gln25fs)

[2112] NM_032043.3(BRIPl):c. 1488_1500del (p.Val497fs)

[2113] NM_032043.3(BRIPl):c.2370 2379+ 20del

[2114] NM_032043.3(BRIPl):c.627+2T>C

[2115] NM_032043.3(BRIPl):c.875del (p.Phe292fs)

[2116] NM_032043.3(BRIPl):c.2040_2044del (p.Leu680fs)

[2117] NM_032043.3(BRIPl):c.461_462del (p.Phel54fs)

[2118] NM_032043.3(BRIPl):c. 1069G >T (p.Glu357Ter)

[2119] NM_032043.3(BRIPl):c. 112dup (p.Ser38fs)

[2120] NM_032043.3(BRIPl):c.2229T>G (p.Tyr743Ter)

[2121] NM_032043.3(BRIPl):c.759_760dup (p.Lys254fs)

[2122] NM_032043.3(BRIPl):c. 1240_1244dup (p.Arg416fs)

[2123] NM_032043.3(BRIPl):c.2581dup (p.Ser861fs)

[2124] NM_032043.3(BRIPl):c.66C>A (p.Tyr22Ter)

[2125] NM_032043.3(BRIPl):c.2380-45_2402delinsTTGACCATTTGAATGGT

[2126] NM_032043.3(BRIPl):c. 1138del (p.Ser380fs)

[2127] NM_032043.3(BRIPl):c. 1683_1684del (p.Gln561fs)

[2128] NM_032043.3(BRIPl):c.2576-lG>T

[2129] NM_032043.3(BRIPl):c.2690del (p.Lys897fs)

[2130] NM_032043.3(BRIPl):c. 161T+G (p.Leu54Ter)

[2131] NM_032043.3(BRIPl):c.2839C>T (p.Gln947Ter)

[2132] NM_032043.3(BRIPl):c.205+5G>T

[2133] NM_032043.3(BRIPl):c.942del (p.His314fs)

[2134] NM_032043.3(BRIPl):c. 1348G+T (p.Glu450Ter)

[2135] NM_032043.3(BRIPl):c.2400C>A (p.Tyr800Ter)

[2136] NM_032043.3(BRIPl):c. 1707del (p.Leu570fs)

[2137] NM_032043.3(BRIPl):c.2458C>T (p.Gln820Ter)

[2138] NM_032043.3(BRIPl):c. 1340+2_1340+5del

[2139] NM_032043.3(BRIPl):c.761_764del (p.Lys254fs)

[2140] NM_032043.3(BRIPl):c.3167C>G (p.SerlO56Ter)

[2141] NM_032043.3(BRIPl):c.2575+lG>T NM_032043.3(BRIPl):c.379+lG>A NM_032043.3(BRIPl):c.2253_2254del (p.Lys752fs) NM_032043.3(BRIPl):c. 1936del NM_032043.3(BRIPl):c.2380-lG>A NM_032043.3(BRIPl):c. 1660C>T (p.Gln554Ter) NM_032043.3(BRIPl):c.2492+lG>C NM_032043.3(BRIPl):c.30del (p.IlelOfs) NM_032043.3(BRIPl):c.2575+lG>A NM_032043.3(BRIPl):c. 1661del (p.Gln554fs) NM_032043.3(BRIPl):c.939T>G (p.Tyr313Ter) NM_032043.3(BRIPl):c.2221dup (p.Val741fs) NM_032043.3(BRIPl):c.55dup (p.Tyrl9fs) NM_032043.3(BRIPl):c. 1791del (p.Val598fs) NM_032043.3(BRIPl):c.462dup (p.Glnl55fs) NM_032043.3(BRIPl):c.2133del (p.Gly712fs) NM_032043.3(BRIPl):c. 1162C>T (p.Gln388Ter) NM_032043.3(BRIPl):c. 1109 11 lOdup (p.Tyr371fs) NM_032043.3(BRIPl):c.2605C>T (p.Gln869Ter) NM_032043.3(BRIPl):c.514A>T (p.Lys 172Ter) NM_032043.3(BRIPl):c. 183 Idel (p.Val61 Ifs) NM_032043.3(BRIPl):c. 1072_1087del (p.Leu358fs) NM_032043.3(BRIPl):c.78dup (p.Ala27fs) NM_032043.3(BRIPl):c. 1360G>T (p.Glu454Ter) NM_032043.3(BRIPl):c.2341dup (p.Thr781fs) NM_032043.3(BRIPl):c. 1474-13_1475del NM_032043.3(BRIPl):c.932_935del (p.Tyr311fs) NM_032043.3(BRIPl):c.2205dup (p.Asp736Ter) NM_032043.3(BRIPl):c.566C>G (p.Serl89Ter) NM_032043.3(BRIPl):c.2589G>A (p.Trp863Ter) NM_032043.3(BRIPl):c.210del (p.Lys70fs) NM_032043.3(BRIPl):c.918del (p.Asn306fs) NM_032043.3(BRIPl):c.2464dup (p.Tyr822fs) NM_032043.3(BRIPl):c.2223_2225dup (p.Tyr742Ter) NM_032043.3(BRIPl):c.3230T>G (p.LeulO77Ter) NM_032043.3(BRIPl):c.448G>T (p.Glul50Ter) NM_032043.3(BRIPl):c. 1594dup (p.Met532fs) NM_032043.3(BRIPl):c.2786_2789del (p.Leu929fs) NM_032043.3(BRIPl):c.2517G>A (p.Trp839Ter) NM_032043.3(BRIPl):c. 103G>T (p.Gly35Ter) NM_032043.3(BRIPl):c.2218C>T (p.Gln740Ter) NM_032043.3(BRIPl):c.2038_2042del (p.Leu680fs) NM_032043.2(BRIPl):c. 196delinsCTC (p.Ser66fs) NM_032043.3(BRIPl):c. 1888dup (p.Thr630fs) NM_032043.3(BRIPl):c. 14G>A (p.Trp5Ter) NM_032043.3(BRIPl):c. 1140+ 1G>A

[2142] NM_032043.3(BRIPl):c. 1126C>T (p.Gln376Ter) NM_032043.3(BRIPl):c.2830C>T (p.Gln944Ter) NM_032043.3(BRIPl):c.2867C>G (p.Ser956Ter) NM_032043.3(BRIPl):c. 1425_1429del (p.Leu475fs) NM_032043.3(BRIPl):c.40A>T (p.Lys 14Ter) NM_032043.3(BRIPl):c.2281del (p.Cys761fs) NM_032043.3(BRIPl):c. 1294+ 1 (p.Lys432Ter) NM_032043.3(BRIPl):c. 1941G A (p.Trp647Ter) NM_032043.3(BRIPl):c. 1004G+A (p.Trp335Ter) NM_032043.3(BRIPl):c.396_400del (p.Thrl33fs) NM_032043.3(BRIPl):c. 1483dup (p.Ser495fs) NM_032043.3(BRIPl):c.2524_2525del (p.Leu842fs) NM_032043.3(BRIPl):c.628-5_629del NM_032043.3(BRIPl):c.876del (p.Phe292fs) NM_032043.3(BRIPl):c.314C>G (p.SerlO5Ter)

[2143] NM_032043.3(BRIPl):c. 1340+ 1G>A

[2144] NM_032043.3(BRIPl):c.2251_2254del (p.Glu751fs)

[2145] NM_032043.3(BRIPl):c. 1474-1 G A

[2146] NM_032043.3(BRIPl):c. 1936-1 G A

[2147] NM_032043.3(BRIPl):c.308del (p.Glyl03fs)

[2148] NM_032043.3(BRIPl):c. 193C>T (p.Gln65Ter)

[2149] NM_032043.3(BRIPl):c.917dup (p.Asn306fs)

[2150] NM_032043.3(BRIPl):c.2015delinsCC (p.Phe672fs)

[2151] NM_032043.3(BRIPl):c. 146 Idel (p.Ile489fs)

[2152] NM_032043.3(BRIPl):c.2379+lG>A

[2153] NM_032043.3(BRIPl):c.2737del (p.Ser913fs)

[2154] NM_032043.3(BRIPl):c. 1645_1649dup (p. Ala55 Ifs)

[2155] NM_032043.3(BRIPl):c.2030del (p.Gly677fs)

[2156] NM_032043.3(BRIPl):c. 1414G T (p.Glu472Ter)

[2157] NM_032043.3(BRIPl):c. 1628 5G A

[2158] NM_032043.3(BRIPl):c.93+lG>A

[2159] NM_032043.3(BRIPl):c.840del (p.His281fs)

[2160] NM_032043.3(BRIPl):c.777dup (p.Thr260fs)

[2161] NM_032043.3(BRIPl):c.478del (p.Argl60fs)

[2162] NM_032043.3(BRIPl):c.477_481del (p.Lysl59fs)

[2163] NM_032043.3(BRIPl):c.3208del (p.Serl070fs)

[2164] NM_032043.3(BRIPl):c.3072del (p.SerlO25fs)

[2165] NM_032043.3(BRIPl):c.2947del (p.Ile983fs)

[2166] NM_032043.2(BRIPl):c.2398_2400delmsATTTG (p.Tyr800fs)

[2167] NM_032043.3(BRIPl):c.2218del (p.Gln740fs)

[2168] NM_032043.3(BRIPl):c.200_201dup (p.Ser68fs)

[2169] NM_032043.3(BRIPl):c. 1970del (p.Gly657fs)

[2170] NM_032043.3(BRIPl):c. 1741C>T (p.Arg581Ter)

[2171] NM_032043.3(BRIPl):c.2244C>G (p.Tyr748Ter)

[2172] NM_032043.3(BRIPl):c. 1234_1235del (p.Glu412fs)

[2173] NM_032043.3(BRIPl):c. 1312del (p.Leu438fs)

[2174] NM_032043.3(BRIPl):c.2448G>A (p.Trp816Ter)

[2175] NM_032043.3(BRIPl):c.243del (p.Val82fs)

[2176] NM_032043.3(BRIPl):c.2330del (p.Arg777fs)

[2177] NM_032043.3(BRIPl):c. 128 13 Idel (p.Leu43fs)

[2178] NM_032043.3(BRIPl):c.2258-lG>A

[2179] NM_032043.3(BRIPl):c. 1543del (p.Glu515fs)

[2180] NM_032043.3(BRIPl):c. 1889del (p.Thr630fs)

[2181] NM_032043.3(BRIPl):c.2493-lG>A

[2182] NM_032043.3(BRIPl):c.548del (p.Leul83fs)

[2183] NM_032043.3(BRIPl):c.3328G>T (p.Glul llOTer)

[2184] NM_032043.3(BRIPl):c.2085dup (p.Pro696fs)

[2185] NM_032043.3(BRIPl):c.3209C>A (p.Serl070Ter)

[2186] NM_032043.3(BRIPl):c. 1629-1 G T

[2187] NM_032043.3(BRIPl):c.2732dup (p.Thr912fs)

[2188] NM_032043.3(BRIPl):c.270C>A (p.Cys90Ter)

[2189] NM_032043.3(BRIPl):c. 1495C+T (p.Gln499Ter)

[2190] NM_032043.3(BRIPl):c. 1510del (p.Ile504fs)

[2191] NM_032043.3(BRIPl):c.68dup (p.Ser24fs)

[2192] NM_032043.3(BRIPl):c.2102T>G (p.Leu701Ter)

[2193] NM_032043.3(BRIPl):c.409_410del (p.Lysl37fs)

[2194] NM_032043.3(BRIPl):c.205+ldel

[2195] NM_032043.3(BRIPl):c.2111T>A (p.Leu704Ter)

[2196] NM_032043.3(BRIPl):c.890_891insT (p.Lys297fs)

[2197] NM_032043.3(BRIPl):c.2992_2993del (p.Lys998fs)

[2198] NM_032043.3(BRIPl):c.2990_2993dup (p.Lys998fs)

[2199] NM_032043.3(BRIPl):c.2684_2687del (p.Val894_Ser895insTer)

[2200] NM_032043.3(BRIPl):c.2479C>T (p.Gln827Ter) NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)

[2201] NM_024675.4(PALB2):c.2586+lG>A

[2202] NM_024675.4(PALB2):c.3004G>T (p.Glul002Ter)

[2203] NM_024675.4(PALB2):c.3302_3306dup (p.Vall 1036)

[2204] NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)

[2205] NM_024675.4(PALB2):c. 1723del (p.Trp575fs)

[2206] NM_024675.4(PALB2):c. 1536OG (p.Tyr512Ter)

[2207] NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)

[2208] NM_024675.4(PALB2):c. 1133del (p.Pro378fs)

[2209] NM_024675.4(PALB2):c. 1858G>T (p.Gly620Ter)

[2210] NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)

[2211] NM_024675.4(PALB2):c.609del (p.Lys203fs)

[2212] NM_024675.4(PALB2):c.306del (p.Prol04fs)

[2213] NM_024675.4(PALB2):c.3026_3027insA (p.Prol009_Glul010insTer)

[2214] NM_024675.4(PALB2):c.3017dup (p.Leul006fs)

[2215] NM_024675.4(PALB2):c.3003del (p.Glul002fs)

[2216] NM_024675.4(PALB2):c.2T>G (p.MetlArg)

[2217] NM_024675.4(PALB2):c.2876dup (p.Leu960fs)

[2218] NM_024675.4(PALB2):c. 1117del (p.Glu373fs)

[2219] NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)

[2220] NM_024675.4(PALB2):c.2712del (p.Trp904fs)

[2221] NM_024675.4(PALB2):c.264del (p.Asp89fs)

[2222] NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)

[2223] NM_024675.4(PALB2):c.2586+l_2586+2delinsTA

[2224] NM_024675.4(PALB2):c.2549dup (p. Asn85 Ifs)

[2225] NM_024675.4(PALB2):c.249del (p.His83fs)

[2226] NM_024675.4(PALB2):c.23 lOdel (p.Ser771fs)

[2227] NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)

[2228] NM_024675.4(PALB2):c.2205dup (p.Ala736fs)

[2229] NM_024675.4(PALB2):c.2183del (p.Phe728fs)

[2230] NM_024675.4(PALB2):c. 185del (p. Asp62fs)

[2231] NM_024675.4(PALB2):c. 1061del (p.Ser354fs)

[2232] NM_024675.4(PALB2):c. 1725G>A (p.Trp575Ter)

[2233] NM_024675.4(PALB2):c. 1702del (p.Gln568fs)

[2234] NM_024675.4(PALB2):c. 1660_1666del (p.Glu554fs)

[2235] NM_024675.4(PALB2):c. 1644del (p.His549fs)

[2236] NM_024675.4(PALB2):c. 1641_1669del (p.Ser548fs)

[2237] NM_024675.4(PALB2):c. 1454_1457del (p.Thr485fs)

[2238] NM_024675.4(PALB2):c. 1400del (p.Gly467fs)

[2239] NM_024675.4(PALB2):c.952del (p.Ser3186)

[2240] NM_024675.4(PALB2):c.9_48+ 118del

[2241] NM_024675.4(PALB2):c. 1234del (p.Thr4126)

[2242] NM_024675.4(PALB2):c.519del (p.Argl75fs)

[2243] NM_024675.4(PALB2):c. 1187dup (p.Cys396fs)

[2244] NM_024675.4(PALB2):c.3 Idel (p.Cys I lfs)

[2245] NM_024675.4(PALB2):c.3113+lG>C

[2246] NM_024675.4(PALB2):c.3072del (p.AlalO25fs)

[2247] NM_024675.4(PALB2):c. 1784del (p. Asp595fs)

[2248] NM_024675.4(PALB2):c. 1317dup (p.Phe440fs)

[2249] NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)

[2250] NM_024675.4(PALB2):c.535C>T (p.Glnl79Ter)

[2251] NM_024675.4(PALB2):c. 1378_1379inv (p.Gln460Ter)

[2252] NM_024675.4(PALB2):c. 1179dup (p.His394fs)

[2253] NM_024675.4(PALB2):c. 1804OT (p.Gln602Ter)

[2254] NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)

[2255] NM_024675.4(PALB2):c. 1976_1977del (p.Leu659fs)

[2256] NM_024675.4(PALB2):c.326del (p.Prol09fs)

[2257] NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)

[2258] NM_024675.4(PALB2):c.3180T>A (p.Cys 1060Ter) NM_024675.4(PALB2):c.2359dup (p.Thr787fs)

[2259] NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)

[2260] NM_024675.4(PALB2):c. 1142_1143del (p.Leu381fs)

[2261] NM_024675.4(PALB2):c.839dup (p.Asn280fs)

[2262] NM_024675.4(PALB2):c. 1990_1991insGTTC (p.Met664fs)

[2263] NM_024675.4(PALB2):c. 1807del (p.Leu603fs)

[2264] NM_024675.4(PALB2):c. 1735_1736dup (p.Tyr580fs)

[2265] NM_024675.4(PALB2):c.2771del (p.Pro924fs)

[2266] NM_024675.4(PALB2):c.444_445del (p.Lys 149fs)

[2267] NM_024675.4(PALB2):c. 1021G>T (p.Glu341Ter)

[2268] NM_024675.4(PALB2):c. 1426del (p. Arg476fs)

[2269] NM_024675.4(PALB2):c. 1078_1084del (p. Asp360fs)

[2270] NM_024675.4(PALB2):c. 136_148del (p.His46fs)

[2271] NM_024675.4(PALB2):c.734del (p.Ala245fs)

[2272] NM_024675.4(PALB2):c.76 Idel (P.Leu253_Ser254insTer)

[2273] NM_024675.4(PALB2):c.438_450del (p.Argl46fs)

[2274] NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)

[2275] NM_024675.4(PALB2):c. 1359_1360insGT (p.Ser454fs)

[2276] NM_024675.4(PALB2):c.3464_3465del (p.Valll54_Serll55insTer)

[2277] NM_024675.4(PALB2):c.2728del (p.Tyr910fs)

[2278] NM_024675.4(PALB2):c. 1056_1065del (p.Lys353fs)

[2279] NM_024675.4(PALB2):c. 1106_1116del (p.Leu369fs)

[2280] NM_024675.4(PALB2):c. 1652_1653del (p.Tyr55 Ifs)

[2281] NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)

[2282] NM_024675.4(PALB2):c. 1799T>G (p.Leu600Ter)

[2283] NM_024675.4(PALB2):c. 1369del (p.Glu457fs)

[2284] NM_024675.4(PALB2):c. 1188C>A (p.Cys396Ter)

[2285] NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)

[2286] NM_024675.4(PALB2):c.3483del (p.Phell61fs)

[2287] NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Glnl 175fs)

[2288] NM_024675.4(PALB2):c.2585del (p.Lys 862fs)

[2289] NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)

[2290] NM_024675.4(PALB2):c.595del (p.Leul99fs)

[2291] NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)

[2292] NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)

[2293] NM_024675.4(PALB2):c. 1547_1548del (p.Arg516fs)

[2294] NM_024675.4(PALB2):c.420del (p.Lys 140fs)

[2295] NM_024675.4(PALB2):c.2105dup (p.Leu703fs)

[2296] NM_024675.4(PALB2):c. 1454_1458del (p.Thr485fs)

[2297] NM_024675.4(PALB2):c.825del (p.His276fs)

[2298] NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)

[2299] NM_024675.4(PALB2):c. 1065_1069del (p.Leu355fs)

[2300] NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)

[2301] NM_024675.4(PALB2):c. 1427dup (p.Thr477fs)

[2302] NM_024675.4(PALB2):c.2109 2112del (p.Leu703fs)

[2303] NM_024675.4(PALB2):c.425del (p.Lys 142fs)

[2304] NM_024675.4(PALB2):c. 1320dup (p.Lys441Ter)

[2305] NM_024675.4(PALB2):c.887del (p.Met296fs)

[2306] NM_024675.4(PALB2):c.3058C>T (p.Glnl020Ter)

[2307] NM_024675.4(PALB2):c.2749-2A>G

[2308] NM_024675.4(PALB2):c.2575del (p.Ser859fs)

[2309] NM_024675.4(PALB2):c.2563del (p.Leu855fs)

[2310] NM_024675.4(PALB2):c.2996+2T>C

[2311] NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)

[2312] NM_024675.4(PALB2):c. 1156del (p.Thr386fs)

[2313] NM_024675.4(PALB2):c.2405del (p.Cys802fs)

[2314] NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)

[2315] NM 024675.4(PALB2):c.782 783 del (p.His261fs)

[2316] NM_024675.4(PALB2):c. 1824dup (p.Ile609fs) NM_024675.4(PALB2):c. 1168dup (p.Ser390fs)

[2317] NM_024675.4(PALB2):c. 1248del (p.Met416fs)

[2318] NM_024675.4(PALB2):c.2016dup (p.Glu673fs)

[2319] NM_024675.4(PALB2):c. 1227T>A (p.Tyr409Ter)

[2320] NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)

[2321] NM_024675.4(PALB2):c.3296del (p.ThrlO99fs)

[2322] NM_024675.4(PALB2):c.232_233del (p.Val78fs)

[2323] NM_024675.4(PALB2):c.2999del (p.GlylOOOfs)

[2324] NM_024675.4(PALB2):c.2187del (p.Ile730fs)

[2325] NM_024675.4(PALB2):c.3425T>G (p.Leull42Ter)

[2326] NM_024675.4(PALB2):c. 1969 1981dup (p.Pro661fs)

[2327] NM_024675.4(PALB2):c. 1226dup (p.Tyr409Ter)

[2328] NM_024675.4(PALB2):c.3202-2A>G

[2329] NM_024675.4(PALB2):c.2328del (p.Phe776fs)

[2330] NM_024675.4(PALB2):c. 1965dup (p.Pro656fs)

[2331] NM_024675.4(PALB2):c. 181C>T (p.Gln6 ITer)

[2332] NM_024675.4(PALB2):c.3295_33 lOdelinsCGTGGT (p.ThrlO99fs)

[2333] NM_024675.4(PALB2):c. 1613_1619del (p.Ile538fs)

[2334] NM_024675.4(PALB2):c. 1939_1940insT (p.His647fs)

[2335] NM_024675.4(PALB2):c. 1447_1448del (p.Ser483fs)

[2336] NM_024675.4(PALB2):c.503C>G (p.Serl68Ter)

[2337] NM_024675.4(PALB2):c.703dup (p.Thr235fs)

[2338] NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs)

[2339] NM_024675.4(PALB2):c.3392del (p.Ilell31fs)

[2340] NM_024675.4(PALB2):c.293dup (p.Thr99fs)

[2341] NM_024675.4(PALB2):c.2950del (p.Leu984fs)

[2342] NM 024675.4(PALB2):c.896 897 del (p.Ser299fs)

[2343] NM_024675.4(PALB2):c.212-lG>A

[2344] NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)

[2345] NM_024675.4(PALB2):c.37G>T (p.Glul3Ter)

[2346] NM_024675.4(PALB2):c.2016 2017insT (p.Glu673Ter)

[2347] NM_024675.4(PALB2):c.48+lG>T

[2348] NM_024675.4(PALB2):c. 1535dup (p.Tyr512Ter)

[2349] NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)

[2350] NM_024675.4(PALB2):c. 1857del (p.Phe619fs)

[2351] NM_024675.4(PALB2):c.2514+ 1G>A

[2352] NM 024675.4(PALB2):c.2393 2394dup (p.Thr799fs)

[2353] NM_024675.4(PALB2):c.3028G>T (p.GlulOlOTer)

[2354] NM_024675.4(PALB2):c.674dup (p.Thr226fs)

[2355] NM_024675.4(PALB2):c. 1988dup (p.Met664fs)

[2356] NM_024675.4(PALB2):c. 1002&A (p.Tyr334Ter)

[2357] NM_024675.4(PALB2):c.314_315del (p.GlulO5fs)

[2358] NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)

[2359] NM_024675.4(PALB2):c.2716del (p.Trp906fs)

[2360] NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)

[2361] NM_024675.4(PALB2):c. 1553C>A (p.Ser518Ter)

[2362] NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)

[2363] NM_024675.4(PALB2):c. 1972G+T (p.Glu658Ter)

[2364] NM_024675.4(PALB2):c. 1837OT (p.Gln613Ter)

[2365] NM_024675.4(PALB2):c. 1786G+T (p.Gly596Ter)

[2366] NM_024675.4(PALB2):c.538G>T (p.Glul80Ter)

[2367] NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)

[2368] NM_024675.4(PALB2):c.646del (p.Ile216fs)

[2369] NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glul80Ter)

[2370] NM_024675.4(PALB2):c.527_531del (p.Leul76fs)

[2371] NM_024675.4(PALB2):c.481_482del (p.Aspl61fs)

[2372] NM_024675.4(PALB2):c.419dup (p.Glnl41fs)

[2373] NM_024675.4(PALB2):c.3469C>T (p.Glnl 157Ter)

[2374] NM_024675.4(PALB2):c.343G>T (p.Glyl 15Ter) NM_024675.4(PALB2):c.3395T>A (p.Leul 132Ter)

[2375] NM_024675.4(PALB2):c.3351-lG>C

[2376] NM_024675.4(PALB2):c.3170 3175delins AATCA (p.AlalO57fs)

[2377] NM_024675.4(PALB2):c.3113+lG>A

[2378] NM_024675.4(PALB2):c.885_886msG (p.Met296fs)

[2379] NM_024675.4(PALB2):c.2953del (p.Ser985fs)

[2380] NM_024675.4(PALB2):c. 1117G>T (p.Glu373Ter)

[2381] NM_024675.4(PALB2):c. 1010T>G (p.Leu337Ter)

[2382] NM_024675.4(PALB2):c.2834+2T>C

[2383] NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)

[2384] NM_024675.4(PALB2):c.2517 2518del (p.Glu840fs)

[2385] NM_024675.4(PALB2):c.2479del (p.Thr827fs)

[2386] NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)

[2387] NM_024675.4(PALB2):c.2220del (p.Gly741fs)

[2388] NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)

[2389] NM_024675.4(PALB2):c.2161del (p.Thr721fs)

[2390] NM_024675.4(PALB2):c. 1915G>T (p.Glu639Ter)

[2391] NM_024675.4(PALB2):c. 1882A>T (p.Lys628Ter)

[2392] NM_024675.4(PALB2):c. 1880_1881del (p.Val627fs)

[2393] NM 001407314. l(PALB2):c.49-l 193del

[2394] NM_024675.4(PALB2):c. 1653T>G (p.Tyr55 ITer)

[2395] NM_024675.4(PALB2):c. 1643OG (p.Ser548Ter)

[2396] NM_024675.4(PALB2):c. 1451T>G (p.Leu484Ter)

[2397] NM_024675.4(PALB2):c. 1384G>T (p.Glu462Ter)

[2398] NM_024675.4(PALB2):c. 1352dup (p.Leu45 Ifs)

[2399] NM_024675.4(PALB2):c. 118del (p. Arg40fs)

[2400] NM_024675.4(PALB2):c.625del (p.Ser209fs)

[2401] NM 024675.4(PALB2):c.2770 2773 dup (p.Val925fs)

[2402] NM_024675.4(PALB2):c.3332del (p.Prol 11 Ifs)

[2403] NM_024675.4(PALB2):c.3062_3063dup (p.MetlO22fs)

[2404] NM_024675.4(PALB2):c. 1965del (p.Pro656fs)

[2405] NM_024675.4(PALB2):c.3113+5G>A

[2406] NM_024675.4(PALB2):c. 1042del (p.Gln348fs)

[2407] NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)

[2408] NM_024675.4(PALB2):c. 1084_1085del (p.Thr36 l_Leu362insTer)

[2409] NM_024675.4(PALB2):c.3038_3039del (p.IlelO13fs)

[2410] NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)

[2411] NM_024675.4(PALB2):c.76del (p.Arg26fs)

[2412] NM_024675.4(PALB2):c.2185_2186msA (p.Pro729fs)

[2413] NM_024675.4(PALB2):c.3477G>A (p.Trpl 159Ter)

[2414] NM 024675.4(PALB2):c.2773 del (p.Val925fs)

[2415] NM_024675.4(PALB2):c. 1156dup (p.Thr386fs)

[2416] NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)

[2417] NM_024675.4(PALB2):c.211+lG>T

[2418] NM_024675.4(PALB2):c.2999_3001delinsAC (p.GlylOOOfs)

[2419] NM_024675.4(PALB2):c.521_522msCA (p.Lys 174fs)

[2420] NM_024675.4(PALB2):c. 1709_1710del (p.Glu570fs)

[2421] NM_024675.4(PALB2):c. 1010T>A (p.Leu337Ter)

[2422] NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)

[2423] NM_024675.4(PALB2):c. 1129C>T (p.Gln377Ter)

[2424] NM_024675.4(PALB2):c.3297_3298msT (p.Thrl lOOfs)

[2425] NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)

[2426] NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)

[2427] NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)

[2428] NM_024675.4(PALB2):c.655_656del (p.Asp219fs)

[2429] NM_024675.4(PALB2):c.2223_2224delinsG

[2430] NM_024675.4(PALB2):c.3249_3253delinsAGCC

[2431] NM_024675.4(PALB2):c.682del (p.Gln228fs)

[2432] NM_024675.4(PALB2):c. 1179del (p.Lys393fs) NM_024675.4(PALB2):c. 1914del (p.Phe638fs)

[2433] NM_024675.4(PALB2):c. 1619dup (p.Asn540fs)

[2434] NM_024675.4(PALB2):c. 1546dup (p. Arg516fs)

[2435] NM_024675.4(PALB2):c. 1437_1438del (p.Lys480fs)

[2436] NM_024675.4(PALB2):c. 1190_1191del (p.Thr397fs)

[2437] NM_024675.4(PALB2):c. 1140_1143del (p.Ser380fs)

[2438] NM_024675.4(PALB2):c. 1032_1033dup (p.Leu345fs)

[2439] NM_024675.4(PALB2):c. 1485del (p. Asp496fs)

[2440] NM_024675.4(PALB2):c.444del (p.Lys 149fs)

[2441] NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)

[2442] NM_024675.4(PALB2):c.620del (p.Pro207fs)

[2443] NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)

[2444] NM_024675.4(PALB2):c. 1648 A>T (p.Lys550Ter)

[2445] NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)

[2446] NM_024675.4(PALB2):c.2938del (p.Ser980fs)

[2447] NM_024675.4(PALB2):c.2160_2161msG (p.Thr721fs)

[2448] NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)

[2449] NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)

[2450] NM_024675.4(PALB2):c. 1440del (p.Lys480fs)

[2451] NM_024675.4(PALB2):c. 1266del (P.Lys422_Val423insTer)

[2452] NM_024675.4(PALB2):c. 1429del (p.Thr477fs)

[2453] NM_024675.4(PALB2):c.901_907del (p.Asp301fs)

[2454] NM_024675.4(PALB2):c.2748+lG>A

[2455] NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)

[2456] NM_024675.4(PALB2):c. 1653del (p.Gln552fs)

[2457] NM_024675.4(PALB2):c. 1059_1077delinsGG (p.Ser354fs)

[2458] NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)

[2459] NM_024675.4(PALB2):c. 1192del (p.Val398fs)

[2460] NM_024675.4(PALB2):c. 1327 A>T (p.Lys443Ter)

[2461] NM_024675.4(PALB2):c. 1873del (p.Glu625fs)

[2462] NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)

[2463] NM_024675.4(PALB2):c.2834+lG>C

[2464] NM_024675.4(PALB2):c.3350+4A>C

[2465] NM_024675.4(PALB2):c. 1064del (p.Ser354_Leu355insTer)

[2466] NM_024675.4(PALB2):c.48+lG>A

[2467] NM_024675.4(PALB2):c. 1741_1744del (p.Leu581fs)

[2468] NM_024675.4(PALB2):c.844_847del (p.Arg282fs)

[2469] NM_024675.4(PALB2):c. 1972del (p.Glu658fs)

[2470] NM_024675.4(PALB2):c. 1677del (p.Gln559_Val560insTer)

[2471] NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)

[2472] NM_024675.4(PALB2):c. 1945 A>T (p.Lys649Ter)

[2473] NM_024675.4(PALB2):c. 1684+ 1G>T

[2474] NM_024675.4(PALB2):c.2719del (p.Glu907fs)

[2475] NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)

[2476] NM_024675.4(PALB2):c.3130C>T (p.GlnlO44Ter)

[2477] NM_024675.4(PALB2):c. 1071_1072del (p.Pro358fs)

[2478] NM_024675.4(PALB2):c.2749-2A>C

[2479] NM_024675.4(PALB2):c.639del (p.Thr214fs)

[2480] NM_024675.4(PALB2):c.3165C>G (p.TyrlO55Ter)

[2481] NM_024675.4(PALB2):c. 1183del (p.Ser395fs)

[2482] NM_024675.4(PALB2):c. 103 Idel (p.Asn344fs)

[2483] NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)

[2484] NM_024675.4(PALB2):c. 1675OT (p.Gln559Ter)

[2485] NM_024675.4(PALB2):c.985_986del (p.Leu329fs)

[2486] NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)

[2487] NM_024675.4(PALB2):c.635del (p.Pro212fs)

[2488] NM_024675.4(PALB2):c.442_457dup (p.Argl53fs)

[2489] NM_024675.4(PALB2):c.3436C>T (p.Glnl 146Ter)

[2490] NM_024675.4(PALB2):c.3324C>G (p.Tyrl 108Ter) NM_024675.4(PALB2):c.3299_3306dup (p.Vall 1036) NM_024675.4(PALB2):c.3157_3160del (p.Aspl053fs) NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) NM_024675.4(PALB2):c.2915del (p.Leu972fs) NM_024675.4(PALB2):c.2818del (p.Glu940fs) NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) NM_024675.4(PALB2):c. 1704_1707del (p.Lys569fs) NM_024675.4(PALB2):c. 1702OT (p.Gln568Ter) NM_024675.4(PALB2):c. 1565del (p.Pro522fs) NM_024675.4(PALB2):c. 1490del (p. Asn497fs) NM_024675.4(PALB2):c. 1424del (P.Ser474_Ser475insTer) NM_024675.4(PALB2):c. 1046del (p. Asn349fs) NM_024675.4(PALB2):c.3324C>A (p.Tyrl 108Ter) NM_024675.4(PALB2):c. 1685-2A>G NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) NM_024675.4(PALB2):c.2298dup (p.Val767fs) NM_024675.4(PALB2):c. 1753del (p.Asp585fs) NM_024675.4(PALB2):c.3143del (p.Lys lO48fs) NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) NM_024675.3(PALB2):c. 1724dup (p.Ser576Glufs) NM_024675.4(PALB2):c.548del (p.Serl83fs) NM_024675.4(PALB2):c. 1163dup (p.Leu389fs) NM_024675.4(PALB2):c.2878del (p.Leu960fs) NM_024675.4(PALB2):c.224_228del (p.Lys75fs) NM_024675.4(PALB2):c. 1067_1068insTA (p.Lys356fs) NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) NM_024675.4(PALB2):c. 163C>T (p.Gln55Ter) NM_024675.4(PALB2):c. 1465del (p.Ser489fs) NM_024675.4(PALB2):c. 1553OG (p.Ser518Ter) NM_024675.4(PALB2):c.2749-lG>C NM_024675.4(PALB2):c. 1742del (p.Leu581fs) NM_024675.4(PALB2):c.3124dup (p.ThrlO42fs) NM_024675.4(PALB2):c.953_954del (p.Ser318fs) NM_024675.4(PALB2):c. 1048OT (p.Gln350Ter) NM_024675.4(PALB2):c. 1366G>T (p.Glu456Ter) NM_024675.4(PALB2):c.2936del (p.Ser979fs) NM_024675.4(PALB2):c. 1424dup (p. Arg476fs) NM_024675.4(PALB2):c.932_933msC (p.Lys31 Ifs) NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) NM_024675.4(PALB2):c.2056del (p.Arg686fs) NM_024675.4(PALB2):c.695del (p.Gly232fs) NM_024675.4(PALB2):c.886dup (p.Met296fs) NM_024675.4(PALB2):c.3351-2A>G NM_024675.4(PALB2):c. 1435OT (p.Gln479Ter) NM_024675.4(PALB2):c.355del (p.Glnl 19fs) NM_024675.4(PALB2):c. 1706_1707del (p.Lys569fs) NM_024675.4(PALB2):c.557dup (p.Asnl86fs) NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) NM_024675.4(PALB2):c.552del (p.Serl84fs) NM_024675.4(PALB2):c. 1671_1674del (p.Ile558fs) NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) NM_024675.4(PALB2):c.976dup (p.Ser326fs) NM_024675.4(PALB2):c.931A>T (p.Lys31 ITer) NM_024675.4(PALB2):c.759del (p.Ser254fs) NM_024675.4(PALB2):c.3311del (p.Gly 1104fs) NM_024675.4(PALB2):c.3202-2A>C

[2491] NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) NM_024675.4(PALB2):c.2850del (p.Ser95 Ifs) NM_024675.4(PALB2):c.2832del (p.Arg945fs)

[2492] NM_024675.4(PALB2):c.2748+2T>C

[2493] NM_024675.4(PALB2):c.2092del (p.Leu698fs)

[2494] NM_024675.4(PALB2):c. 1817 1818del (p.Phe606fs)

[2495] NM_024675.4(PALB2):c. 1591_1592del (p.Leu53 Ifs)

[2496] NM_024675.4(PALB2):c. 1186dup (p.Cys396fs)

[2497] NM_024675.4(PALB2):c. 1114dup (p.Ser372fs)

[2498] NM_024675.4(PALB2):c. 108+ 1G>A

[2499] NM_024675.4(PALB2):c. 106OT (p.Gln36Ter)

[2500] NM_024675.4(PALB2):c. 1047_1050del (p.Asn349fs)

[2501] NM_024675.4(PALB2):c. 1039G T (p.Glu347Ter)

[2502] NM_024675.4(PALB2):c. 1448OG (p.Ser483Ter)

[2503] NM_024675.4(PALB2):c. 14240 A (p.Ser475Ter)

[2504] NM_024675.4(PALB2):c. 1438 A 1 (p.Lys480Ter)

[2505] NM_024675.4(PALB2):c.2748+ 1G>C

[2506] NM_024675.4(PALB2):c. 1838del (p.Gln613fs)

[2507] NM_024675.4(PALB2):c.3256del (p.ArglO86fs)

[2508] NM_024675.4(PALB2):c.3202-lG>A

[2509] NM_024675.4(PALB2):c.3G>A (p.Metllle)

[2510] NM_024675.4(PALB2):c.3425del (p.Leul 142fs)

[2511] NM_024675.4(PALB2):c.2576OA (p.Ser859Ter)

[2512] NM_024675.4(PALB2):c.601dup (p.Ser201fs)

[2513] NM_024675.4(PALB2):c. 178OT (p.Gln60Ter)

[2514] NM_024675.4(PALB2):c.2514+1G+C

[2515] NM_024675.4(PALB2):c.421C>T (p.Glnl41Ter)

[2516] NM_024675.4(PALB2):c.3017del (P.Phel005_Leul006insTer)

[2517] NM_024675.4(PALB2):c.487_488del (p.Vall63fs)

[2518] NM_024675.4(PALB2):c.3234T>A (p.Cys 1078Ter)

[2519] NM_024675.4(PALB2):c.2996+ 1G>T

[2520] NM_024675.4(PALB2):c. 1650del (p.Lys550fs)

[2521] NM_024675.4(PALB2):c. 1496T A (p.Leu499Ter)

[2522] NM_024675.4(PALB2):c.3114-1G+A

[2523] NM_024675.4(PALB2):c.544del (p.Ilel82fs)

[2524] NM_024675.4(PALB2):c.2835-2A>C

[2525] NM_024675.4(PALB2):c.3244_3245del (p.GlulO81_SerlO82insTer)

[2526] NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)

[2527] NM_024675.4(PALB2):c. 1424OG (p.Ser475Ter)

[2528] NM_024675.4(PALB2):c.3492G>A (p.Trpl 164Ter)

[2529] NM_024675.4(PALB2):c.472C>T (p.Glnl58Ter)

[2530] NM_024675.4(PALB2):c. 1A>G (p.MetlVal)

[2531] NM_024675.4(PALB2):c. 1714del (p.Ser572fs)

[2532] NM_024675.4(PALB2):c.3491G>A (p.Trpl 164Ter)

[2533] NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)

[2534] NM_024675.4(PALB2):c. 12dup (p.Pro5fs)

[2535] NM_024675.4(PALB2):c.3239_3240del (p.Lys 1080fs)

[2536] NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)

[2537] NM 024675.4(PALB2):c.2267 2283 dup (p.His762fs)

[2538] NM_024675.4(PALB2):c. 1467_1468del (p.Pro490fs)

[2539] NM_024675.4(PALB2):c. 1538del (p.Thr513fs)

[2540] NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)

[2541] NM_024675.4(PALB2):c.3420G>A (p.Trpl 140Ter)

[2542] NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)

[2543] NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)

[2544] NM 024675.4(PALB2):c.500_513del (p. Asp 167fs)

[2545] NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)

[2546] NM 024675.4(PALB2):c.3374 3395 del (p.Aspl l25fs)

[2547] NM_024675.4(PALB2):c.3396_3405del (p.Thrll33fs)

[2548] NM_024675.4(PALB2):c.347T>A (p.Leull6Ter)

[2549] NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)

[2550] NM_024675.4(PALB2):c.2156del (p.Pro719fs)

[2551] NM_024675.4(PALB2):c.2760dup (p.Gln921fs)

[2552] NM_024675.4(PALB2):c.2325dup (p.Phe776fs)

[2553] NM_024675.4(PALB2):c. 1216del (p.Ala406fs)

[2554] NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)

[2555] NM_024675.4(PALB2):c.3113+5G>C

[2556] NM_024675.4(PALB2):c.3114G>A (p.TrplO38Ter)

[2557] NM_024675.4(PALB2):c.466_467del (p.Ilel56fs)

[2558] NM_024675.4(PALB2):c.3027del (p.GlulOlOfs)

[2559] NM_024675.4(PALB2):c. 1425 1426insT (p. Arg476Ter)

[2560] NM_024675.4(PALB2):c.658del (p.Ser220fs)

[2561] NM_024675.4(PALB2):c. 115C>T (p.Gln39Ter)

[2562] NM_024675.4(PALB2):c. 19190 A (p.Ser640Ter)

[2563] NM_024675.4(PALB2):c.35del (p.Glul2fs)

[2564] NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)

[2565] NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)

[2566] NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)

[2567] NM_024675.4(PALB2):c.2488del (p.Glu830fs)

[2568] NM_024675.4(PALB2):c.3358G>T (p.Glull20Ter)

[2569] NM_024675.4(PALB2):c. 1206del (p.Leu403fs)

[2570] NM_024675.4(PALB2):c.2470del (p.Cys824fs)

[2571] NM_024675.4(PALB2):c.707dup (p.Leu237fs)

[2572] NM_024675.4(PALB2):c.541G>T (p.Glul81Ter)

[2573] NM 024675.4(PALB2):c.2296 2297 del (p.Val767fs)

[2574] NM_024675.4(PALB2):c. 1378OT (p.Gln460Ter)

[2575] NM_024675.4(PALB2):c.3165OA (p.Tyrl055Ter)

[2576] NM_024675.4(PALB2):c.3246_3247del (p.SerlO82fs)

[2577] NM_024675.4(PALB2):c.693dup (p.Gly232fs)

[2578] NM_024675.4(PALB2):c.3186del (p.AlalO63fs)

[2579] NM_024675.4(PALB2):c.2391del (p.Gln797fs)

[2580] NM_024675.4(PALB2):c. 1042OT (p.Gln348Ter)

[2581] NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)

[2582] NM_024675.4(PALB2):c.93dup (p.Leu32fs)

[2583] NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.AsnlO96fs)

[2584] NM_024675.4(PALB2):c.860dup (p.Ser288fs)

[2585] NM_024675.4(PALB2):c.3350+lG>A

[2586] NM_024675.4(PALB2):c.3271C>T (p.GlnlO91Ter)

[2587] NM_024675.4(PALB2):c.2470dup (p.Cys824fs)

[2588] NM_024675.3(PALB2):c.2587-?_2748+?del

[2589] NM_024675.4(PALB2):c.2515-lG>C

[2590] NM_024675.4(PALB2):c. 1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)

[2591] NM_024675.4(PALB2):c.2835-lG>A

[2592] NM_024675.4(PALB2):c.2747_2748+4del

[2593] NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)

[2594] NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)

[2595] NM_024675.4(PALB2):c. 1451T>A (p.Leu484Ter)

[2596] NM_024675.4(PALB2):c.3004_3007del (p.Glul002fs)

[2597] NM_024675.4(PALB2):c. 1085_1086del (p.Leu362fs)

[2598] NM_024675.4(PALB2):c. 1616 1617dup (p.Asn540fs)

[2599] NM_024675.4(PALB2):c. 1291_1292del (p.His432fs)

[2600] NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)

[2601] NM_024675.4(PALB2):c.2748+lG>T

[2602] NM_024675.4(PALB2):c.3426_3429del (p.Leull42fs)

[2603] NM_024675.4(PALB2):c.3228_3244dup (p.SerlO82fs)

[2604] NM_024675.4(PALB2):c. 1647_1648del (p.His549fs)

[2605] NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)

[2606] NM_024675.4(PALB2):c. 109-2A>G

[2607] NM_024675.4(PALB2):c.2834+lG>A NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) NM_024675.4(PALB2):c.43G>T (p.Glul5Ter) NM_024675.4(PALB2):c.212-2A>G NM_024675.4(PALB2):c. 1724G>A (p.Trp575Ter) NM_024675.4(PALB2):c. 1059del (p.Lys353fs) NM_024675.4(PALB2):c.948del (p.Thr317fs) NM_024675.4(PALB2):c.786del (p.Glu263fs) NM_024675.4(PALB2):c.2727_2728del (p.Thr91 Ifs) NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) NM_024675.4(PALB2):c.2154del (p.Arg718fs) NM_024675.4(PALB2):c.2032del (p.Leu678fs) NM_024675.4(PALB2):c. 1924del (p.Met642fs) NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) NM_024675.4(PALB2):c.48G>A (p.Lys 16=) NM_024675.4(PALB2):c.451C>T (p.Glnl51Ter) NM_024675.4(PALB2):c.3426dup (p.Leul 143fs) NM_024675.4(PALB2):c.2888del (p.Ser963fs) NM_024675.4(PALB2):c.2834+lG>T NM_024675.4(PALB2):c. 1571OG (p.Ser524Ter) NM_024675.4(PALB2):c. 156del (p.Glu53fs) NM_024675.4(PALB2):c. 1108OT (p.Gln370Ter) NM_024675.4(PALB2):c.2205del (p.Ala736fs) NM_024675.4(PALB2):c.2052del (p.Arg686fs) NM_024675.4(PALB2):c.293 Idup (p.Val978fs) NM_024675.4(PALB2):c.3350+5G>A

[2608] NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) NM_024675.4(PALB2):c. 18G>T (p.Gly6=) NM_024675.4(PALB2):c. 1258OT (p.Gln420Ter) NM_024675.4(PALB2):c.226del (p.Ile76fs) NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) NM_024675.4(PALB2):c.599del (p.Leul99_Leu200insTer) NM_024675.4(PALB2):c.3476G>A (p.Trpl 159Ter) NM_024675.4(PALB2):c.424A>T (p.Lys 142Ter) NM_024675.4(PALB2):c.3267_3268del (p.Phel090fs) NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) NM_024675.4(PALB2):c. 1037_1041del (p.Lys346fs) NM_024675.4(PALB2):c.3201+lG>T NM_024675.4(PALB2):c.654del (p.Asp219fs) NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) NM_024675.4(PALB2):c. 1546del (p. Arg516fs) NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) NM_024675.4(PALB2):c.3507_3508del (p.Hisl l70fs) NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) NM_024675.4(PALB2):c.2006del (p.Glu669fs) NM_024675.4(PALB2):c.3456dup (p.Prol 153fs) NM 024675.4(PALB2):c.2390 2396del (p.Gln797fs) NM_024675.4(PALB2):c.2120del (p.Pro707fs) NM_024675.3(PALB2):c. 1675_1676inv (p.Gln559Ter) NM_024675.4(PALB2):c. 1240OT (p. Arg414Ter) NM_024675.4(PALB2):c.758dup (p.Ser254fs) NM_024675.4(PALB2):c.757_758del (p.Leu253fs) NM_024675.4(PALB2):c.751C>T (p.Gln25 ITer) NM_024675.4(PALB2):c.72del (p.Arg26fs) NM_024675.4(PALB2):c.697del (p.Val233fs) NM_024675.4(PALB2):c.509_5 lOdel (p.Argl70fs) NM_024675.4(PALB2):c.503C>A (p.Serl68Ter) NM_024675.4(PALB2):c.395del (p.Vall32fs) NM_024675.4(PALB2):c.3323del (p.Tyrl 108fs) NM_001114753.3(ENG):c.397dup

[2609] NM_001114753.3(ENG):c.l429-lG>A

[2610] NM_001114753.3(ENG):c.360+lG>C

[2611] NM_001114753.3(ENG):c.l687G>T

[2612] NM_001114753.3(ENG):c.l426C>T

[2613] NM_001114753.3(ENG):c.523+lG>A

[2614] NM_001114753.3(ENG):c.767_786del

[2615] NM_001114753.3(ENG):c.l645T>G

[2616] NM_001114753.3(ENG):c.923C>A

[2617] NM_001114753.3(ENG):c.496dup

[2618] NM_001114753.3(ENG):c.328C>T

[2619] NM_001114753.3(ENG):c.l411C>T

[2620] NM_001114753.3(ENG):c.l365C>A

[2621] NM_001114753.3(ENG):c.896T>G

[2622] NM_001114753.3(ENG):c.772del

[2623] NM_001114753.3(ENG):c.l64del

[2624] NM_001114753.3(ENG):c.l311+5G>A

[2625] NM_001114753.3(ENG):c.l626dup

[2626] NM_001114753.3(ENG):c.277dup

[2627] NM_001114753.3(ENG):c.674del

[2628] NM_001114753.3(ENG):c.774C>A

[2629] NM_001114753.3(ENG):c.360+lG>T

[2630] NM_001114753.3(ENG):c.l59C>A

[2631] NM_001114753.3(ENG):c.777_778dup

[2632] NM_001114753.3(ENG):c.617del

[2633] NM_001114753.3(ENG):c.l238del

[2634] NM_001114753.3(ENG):c.l42C>T

[2635] NM_001114753.3(ENG):c.l698del

[2636] NM_001114753.3(ENG):c.523+lG>C

[2637] NM_001114753.3(ENG):c.l470dup

[2638] NM_001114753.3(ENG):c.787_789del

[2639] NM_001114753.3(ENG):c.l311G>A

[2640] NM_001114753.3(ENG):c.626T>A

[2641] NM 001114753.3(ENG):c. 1472 1475del

[2642] NM_001114753.3(ENG):c.771dup

[2643] NM_001114753.3(ENG):c.l87G>T

[2644] NM_001114753.3(ENG):c.l243C>T

[2645] NM_001114753.3(ENG):c.360+5G>A

[2646] NM_001114753.3(ENG):c.588G>A

[2647] NM_001114753.3(ENG):c.983_984delmsAG

[2648] NM_001114753.3(ENG):c.992-2A>G

[2649] NM_001114753.3(ENG):c.562dup

[2650] NM_001114753.3(ENG):c.689+lG>A

[2651] NM_001114753.3(ENG):c.l66C>T

[2652] NM_001114753.3(ENG):c.771del

[2653] NM_001114753.3(ENG):c.587G>A

[2654] Hereditary hemorrhagic telangiectasia

[2655] NM_001114753.3(ENG):c.229C>T

[2656] NM_001114753.3(ENG):c.659T>C

[2657] NM_001114753.3(ENG):c.l684C>T

[2658] NM_001114753.3(ENG):c.815G>A

[2659] NM_001114753.3(ENG):c.776del

[2660] NM_001114753.3(ENG):c.523G>T

[2661] NM_001114753.3(ENG):c.743del

[2662] NM 001114753.3(ENG):c.1166 1168del

[2663] NM_001114753.3(ENG):c.899T>C

[2664] NM_001114753.3(ENG):c.l55G>A

[2665] NM_001114753.3(ENG):c.l309C>T

[2666] NM_001114753.3(ENG):c.690-2A>T NM_001114753.3(ENG):c.l268del NM_000118.3(ENG):c. 1687delG

[2667] NM_001114753.3(ENG):c.831C>A

[2668] NM_001114753.3(ENG):c. 1434 1435del

[2669] NM_001114753.3(ENG):c.991+2T>C

[2670] NM_001114753.3(ENG):c.817-lG>C NM_001114753.3(ENG):c. 1346_1347del NM_001114753.3(ENG):c.l45G>T

[2671] NM_001114753.3(ENG):c.l l69G>A

[2672] NM_001114753.3(ENG):c.l509del

[2673] NM_001114753.3(ENG):c.23T>C

[2674] NM_001114753.3(ENG):c.920dup

[2675] NM_001114753.3(ENG):c.224del

[2676] NM_001114753.3(ENG):c.595_596dup

[2677] NM_001114753.3(ENG):c.904dup

[2678] NM_001114753.3(ENG):c.808C>T

[2679] NM_001114753.3(ENG):c.690-lG>A

[2680] NM_001114753.3(ENG):c.392del

[2681] NM_001114753.3(ENG):c.219+lG>A

[2682] NM_001114753.3(ENG):c.l469T>C

[2683] NM_001114753.3(ENG):c.l235G>A

[2684] NM_001114753.3(ENG):c.l l34G>A

[2685] NM_001114753.3(ENG):c.l326C>A

[2686] NM_001114753.3(ENG):c.67+lG>A

[2687] NM_001114753.3(ENG):c.219+5G>C

[2688] NM_001114753.3(ENG):c.736del

[2689] NM_001114753.3(ENG):c.l292C>A

[2690] NM_001114753.3(ENG):c.l306C>T

[2691] NM_001114753.3(ENG):c.l541del

[2692] NM_001114753.3(ENG):c.765del

[2693] NM_001114753.3(ENG):c.760C>T

[2694] NM_001114753.3(ENG):c.220-lG>A

[2695] NM_001114753.3(ENG):c.l686+lG>A

[2696] NM_001114753.3(ENG):c.41T>C

[2697] NM_001114753.3(ENG):c.511C>T

[2698] NM_001114753.3(ENG):c. 1084_1085del

[2699] NM_001114753.3(ENG):c.l l95del

[2700] NM OOl 114753.3(ENG):c.1195 1196del

[2701] NM_001114753.3(ENG):c.895del

[2702] NM_001114753.3(ENG):c.715G>T

[2703] NM_001114753.3(ENG):c.721_725del

[2704] NM_001114753.3(ENG):c.l657del NM_001114753.3(ENG):c. 1363_1364insC

[2705] NM OOl 114753.3(ENG):c.1121 1124del

[2706] NM_001114753.3(ENG):c.715dup

[2707] NM_001114753.3(ENG):c.l l99del

[2708] NM_001114753.3(ENG):c.l646G>A

[2709] NM_001114753.3(ENG):c.904G>T

[2710] NM OOl 114753.3(ENG):c. 1A>G

[2711] NM_001114753.3(ENG):c.360+5G>C

[2712] NM_001114753.3(ENG):c.524-2A>G

[2713] NM_001114753.3(ENG):c.-127C>T

[2714] NM_001114753.3(ENG):c.l465C>T

[2715] NM_001114753.3(ENG):c.880_881del

[2716] NM_001114753.3(ENG):c.816G>A

[2717] NM_001114753.3(ENG):c.277C>T

[2718] NM_001114753.3(ENG):c.360+lG>A

[2719] NM_001114753.3(ENG):c.68-lG>A

[2720] NM_001114753.3(ENG):c.640_643del

[2721] NM_001114753.3(ENG):c.l428+2T>C NM_000256.3(MYBPC3):c.3799del

[2722] NM_000256.3(MYBPC3):c.3782_3792delinsCCTG

[2723] NM_000256.3(MYBPC3):c.3776del

[2724] NM_000256.3(MYBPC3):c.3773T>A

[2725] NM_000256.3(MYBPC3):c.3773T>G

[2726] NM_000256.3(MYBPC3):c.3764CCA[l]

[2727] NM_000256.3(MYBPC3):c.3766del

[2728] NM_000256.3(MYBPC3):c.3759dup

[2729] NM_000256.3(MYBPC3):c.3742_3759dup

[2730] NM_000256.3(MYBPC3):c.3752_3753del

[2731] NM_000256.3(MYBPC3):c.3735del

[2732] NM_000256.3(MYBPC3):c.3732C>A

[2733] NM_000256.3(MYBPC3):c.3726del

[2734] NM_000256.3(MYBPC3):c.3713_3714del

[2735] NM_000256.3(MYBPC3):c.3712_3713del

[2736] NM_000256.3(MYBPC3):c.3713T>C

[2737] NM_000256.3(MYBPC3):c.3702_3703del

[2738] NM_000256.3(MYBPC3):c.3697C>T

[2739] NM_000256.3(MYBPC3):c.3694A>T

[2740] NM_000256.3(MYBPC3):c.3689del

[2741] NM_000256.3(MYBPC3):c.3664G>T

[2742] NM_000256.3(MYBPC3):c.3662del

[2743] NM_000256.3(MYBPC3):c.3642G>A

[2744] NM_000256.3(MYBPC3):c.3641G>A

[2745] NM_000256.3(MYBPC3):c.3593_3627+20del

[2746] NM_000256.3(MYBPC3):c.3627+2del

[2747] NM_000256.3(MYBPC3):c.3627+lG>A

[2748] NM_000256.3(MYBPC3):c.3624dup

[2749] NM_000256.3(MYBPC3):c.3624del

[2750] NM_000256.3(MYBPC3):c.3617del

[2751] NM_000256.3(MYBPC3):c.3600_3609del

[2752] NM_000256.3(MYBPC3):c.3553C>T

[2753] NM_000256.3(MYBPC3):c.3549dup

[2754] NM_000256.3(MYBPC3):c.3512del

[2755] NM_000256.3(MYBPC3):c.3491-2A>T

[2756] NM_000256.3(MYBPC3):c.3491-3C>G

[2757] NM_000256.3(MYBPC3):c.3490+lG>T

[2758] NM_000256.3(MYBPC3):c.3490+lG>A

[2759] NM_000256.3(MYBPC3):c.3472_3481del

[2760] NM_000256.3(MYBPC3):c.3476_3479dup

[2761] NM_000256.3(MYBPC3):c.3476_3477del

[2762] NM_000256.3(MYBPC3):c.3467dup

[2763] NM_000256.3(MYBPC3):c.3466del

[2764] NM_000256.3(MYBPC3):c.3414dup

[2765] NM_000256.3(MYBPC3):c.3408C>A

[2766] NM_000256.3(MYBPC3):c.3372C>A

[2767] NM_000256.3(MYBPC3):c.3357C>A

[2768] NM_000256.3(MYBPC3):c.3332_3335dup

[2769] NM_000256.3(MYBPC3):c.3335G>A

[2770] NM_000256.3(MYBPC3):c.3331-lG>C

[2771] NM_000256.3(MYBPC3):c.3331-lG>A

[2772] NM_000256.3(MYBPC3):c.3331-2A>C

[2773] NM_000256.3(MYBPC3):c.3330+5G>T

[2774] NM_000256.3(MYBPC3):c.3330+5G>C

[2775] NM_000256.3(MYBPC3):c.3330+2T>A

[2776] NM_000256.3(MYBPC3):c.3330+2T>C

[2777] NM_000256.3(MYBPC3):c.3330+2T>G

[2778] NM_000256.3(MYBPC3):c.3330+lG>T

[2779] NM_000256.3(MYBPC3):c.3328del NM_000256.3(MYBPC3):c.3327 del

[2780] NM_000256.3(MYBPC3):c.3321dup

[2781] NM_000256.3(MYBPC3):c.33000A

[2782] NM_000256.3(MYBPC3):c.3297dup

[2783] NM_000256.3(MYBPC3):c.3294G>A

[2784] NM_000256.3(MYBPC3):c.3293G>A

[2785] NM_000256.3(MYBPC3):c.3288del

[2786] NM_000256.3(MYBPC3):c.3286G>T

[2787] NM_000256.3(MYBPC3):c.3258G>A

[2788] NM_000256.3(MYBPC3):c.3257G>A

[2789] NM_000256.3(MYBPC3):c.3253G>T

[2790] NM_000256.3(MYBPC3):c.3242dup

[2791] NM_000256.3(MYBPC3):c.3234G>A

[2792] NM_000256.3(MYBPC3):c.3233G>A

[2793] NM_000256.3(MYBPC3):c.3228_3229insT

[2794] NM_000256.3(MYBPC3):c.3226_3227insT

[2795] NM_000256.3(MYBPC3):c.3217dup

[2796] NM_000256.3(MYBPC3):c.3208C>T

[2797] NM_000256.3(MYBPC3):c.3192dup

[2798] NM_000256.3(MYBPC3):c.3190+5G>A

[2799] NM_000256.3(MYBPC3):c.3182_3190+4del

[2800] NM_000256.3(MYBPC3):c.3190+2T>G

[2801] NM_000256.3(MYBPC3):c.3190+lG>A

[2802] NM_000256.3(MYBPC3):c.3181C>T

[2803] NM_000256.3(MYBPC3):c.3163 A>T

[2804] NM_000256.3(MYBPC3):c.31290 A

[2805] NM_000256.3(MYBPC3):c.3127dup

[2806] NM_000256.3(MYBPC3):c.3124 3125insAA

[2807] NM_000256.3(MYBPC3):c.3079G>AA

[2808] NM_000256.3(MYBPC3):c.3043dup

[2809] NM_000256.3(MYBPC3):c.3040del

[2810] NM_000256.3(MYBPC3):c.3034C>T

[2811] NM_000256.3(MYBPC3):c.3009_3010del

[2812] NM_000256.3(MYBP...

Claims

CLAIMS1. A method of assessing genetic predisposition to a set of diseases in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one, any combination, or all of a set of pathogenic variant(s) or likely pathogenic variant(s) for each disease in the set of diseases, wherein the set of diseases comprises one or more, any combination, or all of Adrenoleukodystrophy, Angelman syndrome-like, ANKRD 11 -related disorder, Attention deficit hyperactivity disorder, Autism spectrum disorder, BH4-Deficient Hyperphenylalaninemia, Brugada syndrome, CHARGE syndrome, CHD5-related Neurodevelopmental disorder, Christianson syndrome, CSNK2A1 -related neurodevelopmental syndrome, DDX3X-related neurodevelopmental disorder, Dihydropyrimidine dehydrogenase deficiency, DYRK1 A-related intellectual disability syndrome, Ehlers-Danlos syndrome spondylodysplastic type, Ehlers-Danlos syndrome, kyphoscoliotic type, Familial aortopathy, Gaucher Disease, Gorlin syndrome, HECW2- related neurodevelopmental disorder, Hereditary persistence of fetal hemoglobin, Hidrotic ectodermal dysplasia syndrome, HNRNPU-related developmental and epileptic encephalopathy, Houge- Janssens syndrome 2, Hypotonia, ataxia, and delayed development syndrome, KAT6A-related neurodevelopmental disorder with multiple anomalies, KMT5B- related neurodevelopmental disorder, Kleefstra syndrome, Lactose intolerance, Leigh syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Myofibrillar myopathy, PHGDH deficiency, PHIP -related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Primary ciliary dyskinesia, Primrose Syndrome, Prader-Willi Syndrome, PTEN hamartoma tumor syndrome, Pyridoxal phosphate-responsive seizures, Renal cysts and diabetes syndrome, Rhabdoid tumor predisposition syndrome, Rubinstein-Taybi syndrome, Schinzel-Giedion syndrome, SCN8 A-related epilepsy, SHORT syndrome, SLC6A1 -related neurodevelopmental disorder, Spinal muscular atrophy, STXBP1 -related neurodevelopmental disorder, UNCI 3 A-related Neurodevelopmental and Movement disorder, Zellweger spectrum disorders, and Zinc deficiency (e.g., transient neonatal zinc deficiency) or any other set of diseases provided herein, such as in Table 1, Table 2, Table 3, Table 4, Table 5 or the Figures.

2. The method of claim 1, wherein the subject is a healthy-appearing subject.

3. The method of claim 1 or 2, wherein the subject is a pediatric subject.

4. The method of any one of claims 1-3, wherein the sample is collected with a non- invasive test.

5. The method of claim 4, wherein the sample is a cheek swab.

6. The method of any one of claims 1-5, wherein the pathogenic variant(s) or likely pathogenic variant(s) is of one or more, any combination, or all of PEX10, ZEB2, ANKRD11, KIF1A, GNB1, SPR, DNAJC12, KCND3, RERE, SLC9A6, DP YD, 0RC1, BCL11A, GJB6, PPP2CA, AHDC1, BRAF, LRPPRC, TRIO, ACTN2, GOT2, CREBBP, SETBP 1, PLEKHG5, and ZBTB20 or any other list of relevant variants provided herein, such as in Table 1 or Table 2, or is a variant of any one or more, any combination, or all of the genes in Table 3, Table 4 or Table 5.

7. The method of any one of claims 1-6, wherein the set of diseases also include one or more, any combination or all of 3-methylglutaconic aciduria, type V, ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder, AC0X1 -related peroxisomal acyl-CoA oxidase deficiency, AC0X1 -related progressive myeloneuropathy with sensorineural hearing loss (AD), ACTB-related Baraitser- Winter syndrome, ACTB-Related Disorder, ACTG1- related Baraitser- Winter syndrome, ACTL6B-related developmental and epileptic encephalopathy, ACTL6B-related neurodevelopmental disorder, ADNP -related neurodevelopmental disorder with multiple anomalies, ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy, AHDC1 -related neurodevelopmental disorder, ALDH5 Al -related succinic semialdehyde dehydrogenase deficiency, AMT-related glycine encephalopathy, ANKRD 11 -related KBG syndrome, ARID IB -related neurodevelopmental disorder, Arrhythmogenic right ventricular cardiomyopathy, ASHIL-related neurodevelopmental disorder with multiple anomalies, ASXL3 -related neurodevelopmental disorder with multiple anomalies, AUTS2-related neurodevelopmental disorder, Barth syndrome, BCLllA-related neurodevelopmental disorder with persistence of fetal hemoglobin, Biotinidase deficiency, Brugada syndrome, CASK-related neurodevelopmental disorder with multiple anomalies 160, Catecholaminergic polymorphic ventricular tachycardia, CDKL5-related developmental and epileptic encephalopathy, CHAMP 1 -relatedneurodevelopmental disorder, CHD2-related developmental and epileptic encephalopathy, CHD3-related neurodevelopmental disorder, CHD7-related CHARGE spectrum disorder, CHD8-related neurodevelopmental disorder, CLPB-related caseinolytic peptidase B deficiency, CN0T3 -related neurodevelopmental disorder, CREBBP-related neurodevelopmental disorder with multiple anomalies, CREBBP-related Rubinstein-Taybi syndrome, CSDEl-related neurodevelopmental disorder with ocular anomalies, CSNK2A1- related neurodevelopmental disorder, CTBPl-related neurodevelopmental disorder, CTCF- related neurodevelopmental disorder with multiple anomalies, DEAF 1 -related neurodevelopmental and movement disorder, DEAF 1 -related neurodevelopmental disorder, DHCR7 -related Smith-Lemli-Opitz syndrome, DHPS-related neurodevelopmental disorder, Dilated cardiomyopathy, Dilated cardiomyopathy (truncating variants only), DLD-related dihydrolipoamide dehydrogenase deficiency, DYRKlA-r elated neurodevelopmental disorder, EBF3-related neurodevelopmental disorder with multiple anomalies, Ehlers-Danlos syndrome, vascular type, EHMTl-related Kleefstra syndrome, ETHEl-related ethylmalonic encephalopathy, Fabry disease, Familial adenomatous polyposis, Familial hypercholesterolemia, Familial medullary thyroid cancer, Familial thoracic aortic aneurysm, FOXGl-related Rett spectrum disorder, FOXPl-related neurodevelopmental disorder, FOXP3 -related immunodysregulation, polyendocrinopathy, and enteropathy, GLDC-related glycine encephalopathy, Glycine encephalopathy with normal serum glycine, GRIN2B- related developmental and epileptic encephalopathy, GRIN2B-related neurodevelopmental disorder, Hereditary breast cancer, Hereditary hemochromatosis, Hereditary hemorrhagic telangiectasia, Hereditary paraganglioma-pheochromocytoma syndrome, Hereditary transthyretin-related amyloidosis, HIVEP2-related neurodevelopmental disorder, HNRNPH2- related neurodevelopmental disorder with multiple anomalies, HSD17B10-related 17-beta- hydroxysteroid dehydrogenase deficiency, Hyperprolinemia, type I, Hypertrophic cardiomyopathy, Juvenile polyposis syndrome, KIFlA-related neurodegenerative spectrum disorder, KMT5B-related neurodevelopmental disorder, Li-Fraumeni syndrome, Loeys-Dietz syndrome, Long QT syndrome, Long-QT syndrome type 1, Long-QT syndrome type 2, Long- QT syndrome type 3, Lynch syndrome, Malignant hyperthermia, Marfan syndrome, Maturity- Onset of Diabetes of the Young, MBD5-related neurodevelopmental disorder, MECP2-related Rett spectrum disorder, MED13-related neurodevelopmental disorder with multiple anomalies, MED13L-related neurodevelopmental disorder with multiple anomalies, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2 A, Multiple endocrine neoplasia type 2B, MUTYH-associated polyposis, Neurofibromatosis type 2, NFU1 -relatedmultiple mitochondrial dysfunctions syndrome, Ornithine transcarbamylase deficiency, PACS1 -related neurodevelopmental disorder with multiple anomalies, Peutz-Jeghers syndrome, PEX1 -related Zellweger spectrum disorder, PEXIO-related Zellweger spectrum disorder, PEX12-related Zellweger spectrum disorder, PEX13-related Zellweger spectrum disorder, PEX14-related Zellweger spectrum disorder, PEX16-related Zellweger spectrum disorder, PEX19-related Zellweger spectrum disorder, PEX2-related Zellweger spectrum disorder, PEX26-related Zellweger spectrum disorder, PEX3-related Zellweger spectrum disorder, PEX5-related Zellweger spectrum disorder, PEX6-related Zellweger spectrum disorder, PHIP-related neurodevelopmental disorder with multiple anomalies, Pompe disease, PPP2RSD-related neurodevelopmental disorder with multiple anomalies, Retinoblastoma, RPE65-related retinopathy, SCNIA-related epilepsy, SCNIA-related familial hemiplegic migraine, SCN2A-related developmental and epileptic encephalopathy, SCN2A-related epilepsy, SCN8A-related epilepsy, SCN8A-related neurodevelopmental and movement disorder, SERAC 1 -related 3-methylglutaconic aciduria, SETBP 1 -related neurodevelopmental disorder, SETBP 1 -related Schinzel-Giedion syndrome, SLC9A6-related Christianson spectrum disorder, SUCLA2-related mitochondrial DNA depletion syndrome, SUCLG1- related mitochondrial DNA depletion syndrome, SYNGAP1 -related neurodevelopmental disorder, TRIO-related neurodevelopmental disorder, Tuberous sclerosis complex, USP9X- related neurodevelopmental disorder with multiple anomalies, Von Hippel-Lindau syndrome or any other set of diseases provided herein, such as in Table 1, Table 2, Table 3, Table 4 or Table 5 or the Figures.

8. The method of claim 7, wherein the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of DNAJC19, ACBD5, AC0X1, ACTB, ACTG1, ACTL6B, ADNP, ADSL, AHDC1, ALDHS51, AMT, ANKRD11, ARID IB, DSC2, DSG2, DSP, PKP2, TMEM43, ASH1L, ASXL3, AUTS2, TAZ, BCL11A, BTD, SCN5A, CASK, CASQ2, RYR2, TRDN, CDKL5, CHAMP1, CHD2, CHD3, CHD7, CHD8, CLPB, CN0T3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, DDX3X, DEAF1, DHCR7, DHPS, BAG3, DSP, FLNC, LMNA, MYH7, SCN5A, TNNC1, TNNT2, TTN, DLD, DES, RBM20, DYRK1A, EBF3, C0L3A1, EHMT1, ETHE1, GLA, APC, APOB, PCSK9, RET, ACTA2, MYH11, F0XG1, FOXP1, FOXP3, GLDC, GRIN2B, HECW2, HFE, ACVRL1, ENG, SMAD4, MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TTR, HIVEP2, HNRNPH2, HNRNPU, HSD17B10, PRODH, ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, BMPR1A, SMAD4, KAT6A, KIF1A, KMT5B, TP53, SMAD3,TGFBR1, TGFBR2, TRDN, SCN5A, KCNQ1, KCNH2, MLH1, MSH2, MSH6, PMS2, CACNA1S, RYR1, FBN1, HNF1A, MBD5, MECP2, MED13, MED13L, MEN1, RET, MUTYH, BAG3, DES, FLNC, NF2, NFU1, OTC, PACS1, STK11, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHIP, GAA, PPP2R5D, PTEN, RBI, RPE65, SCN1A, SCN2A, SCN8A, SERAC1, SETBP1, SLC6A1, SLC9A6, STXBP1, SUCLA2, SUCLG1, SYNGAP1, TRIO, TSC1, TSC2, USP9X, VHL, ATP7B, and WT1 or any other set of relevant variants provided herein, such as in Table 1, or Table 2, or is a variant of any one or more, any combination, or all of the genes in Table 3, Table 4 or Table 5.

9. The method of claim 7 or 8, wherein the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of ACTN2, ALDHA51, B3GALT6, BRAF, BRCA2, CABP2, CCDC103, CCDC39, CCDC40, CCNO, CCNO , CDH23, CFAP300, CHD5, CIB2, CLDN14 , COL1A2, COL5A2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAI2 , DNAJC12, DPYD, ESPN , ESRRB, F7, FANCC , GBA1, GJB2, GJB6, GNB1, GOT2, GRXCR1, HADHB, HJV, HYDIN, ILDR1 , KCND3, LAMP2, LCT, LHFPL5, LRPPRC, LRTOMT, MARVELD2, MCIDAS , MYO 15 A, MY03A, MY06, 0DAD1, 0DAD2, 0DAD3, ORC1, OTO A, OTOG, OTOGL, PDZD7, PHGDH, PHYH, PIVK, PLEKHG5, PLOD1, POU3F4, PPP2CA, RERE, RSPH1, RSPH4A, SERPINA1, SMARCA4, SMARCB1, SPAG1, SPRED1, STRC, TAFAZZIN, TMIE , TPRN, TRIOBP, UNCI 3 A, WAS, ZBTB20, and ZEB2.

10. The method of claim 7, wherein the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of AASS, ABCA3, ACACA, ACAD8, ACADVL, ACBD6, ACSF3, ADGRL1, ADGRV1, AFG2A, AGO1, AGO2, AGXT, AHI1, AKT3, ALDH4A1, ALDH7A1, ALG13, ALMS1, ALOX12B, ALOXE3, ALPK3, ANK1, ANKLE2, ANKRD17, ANO5, AP2M1, AP4B1, AP4E1, AP4M1, AP4S1, ARF3, ARFGEF1, ARFGEF2, ARHGEF9, ARSG, ASPM, ASXL1, ATL1, ATOH1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1D, ATP5PO, ATP6V0A1, ATP6V0A2, ATP6V1E1, ATRX, B4GALNT1, BAP1, BBS1, BCAS3, BCS1L, BGN, BICD2, BICRA, BPTF, BRCA1, BRPF1, BRWD1, C12orf4, C12orf57, C19orfl2, CACNA1A, CACNA1C, CACNA1E, CACNA2D2, CALM1, CALM2, CAMK2A, CAMK2B, CAMK2G, CAPZA2, CASR, CAV3, CBL, CC2D2A, CCDC65, CD3D, CD3E, CDC42, CDC42BPB, CDCA7L, CDK13, CDKN1B, CELA2A, CEP250, CEP290, CEP85L, CFI, CHEK2, CHKA, CLASP1, CLCN1, CLCN3, CLDN14, CLN6,CLRN1, CNGA3, COCH, COG6, COL11A1, COL12A1, COL1A1, COL4A3, COL4A4, COL4A5, COL5A1, COPB1, COX15, CPLANE1, CRADD, CRLF1, CSNK2B, CTNNA3, CTNNB1, CTSA, CUBN, CUL4B, CUX1, CYFIP2, CYP11A1, CYP11B2, CYP17A1, CYP2U1, DAW1, DBT, DCX, DDC, DDHD2, DDX54, DEPDC5, DHDDS, DHX16, DHX30, DHX34, DHX37, DIAPH1, DLG4, DNAAF1, DNAAF11, DNAAF2, DNAAF4, DNAAF5, DNAH8, DNAL1, DNM1L, DNMT3A, DOCK3, DOCK8, DPH1, DRCI, DU0X2, DYNC1H1, DYNC2H1, EEF1A2, EFTUD2, EIF2AK3, EIF3F, EIF4A2, EMC1, EP300, EPB42, ERCC2, ERCC3, ERCC5, ERCC6, ERF, ERLIN2, ESPN, ETFA, ETFB, ETV6, EVC2, F8, FA2H, FAM50A, FAM98C, FANCM, FARS2, FASTKD2, FBN2, FBXL4, FBXO11, FGF12, FH, FKBP10, FLCN, FLNA, FMRI, FOXJ1, FOXRED1, FUCA1, G6PC1, GABBR1, GABBR2, GABRB2, GABRB3, GATAD2B, GBA2, GDF1, GEMIN4, GFM2, GIPC3, GJB6-D13S1830, GJC2, GLB1, GMPPA, GNAI1, GNA01, GNB2, GNB5, GPC3, GPR143, GRIA1, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRM1, GRM7, GSS, GTPBP3, Hl-4, H3-3A, H3-3B, HACE1, HADH, HBA1, HBA2, HBD, HCN1, HCP5;HLA- B, HDAC4, HDAC8, HEATR3, HEXA, HK1, HMGCS2, HNF4A, HNRNPU, HONG KONG 1, HPDL, HPS1, HRAS, HSD3B2, HUWE1, IARS2, IGF1R, IGF2, IGHMBP2, IGSF1, IL2RG, IL7R, ILDR1, INS, IQSEC2, IRF2BPL, ISCA2, ITGA2B, ITGB3, ITPR1, JARID2, JPH2, KANSL1, KARS1, KAT6B, KCNA1, KCNA2, KCNB1, KCND2, KCNE1, KCNE2, KCNH1, KCNH5, KCNJ10, KCNJ2, KCNK4, KCNMA1, KCNN2, KCNQ3, KCNQ4, KCNQ5, KDM1A, KDM5C, KDM6A, KIAA0586, KIF1C, KIF5A, KIF5B, KIT, KLF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KPTN, KRAS, LI CAM, LARS2, LAS1L, LOC106099062, LOC106099063, LOC106804612, LOC106804613, LOC107133510, LOC110006319, LOX, LOXHD1, LRRC32, LZTR1, MAGEL2, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MAT1A, MC4R, MCIDAS, MECR, MED12, MED12L, MEF2C, MEFV, METTL5, MFAP5, MFF, MFN2, MGAT2, MICU1, MIPEP, MITF, MKS1, MOCOS, MORC2, MPV17, MPZ, MRAS, MRPL39, MRPS34, MSL3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO3, MT-CYB, MTFMT, MTM1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT01, MTOR, MTRFR, MT-TA, MT-TD, MT-TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN, MT- TP, MT-TR, MT-TS1, MT-TS2, MT-TW, MYLK, MY07A, MYOT, MYPN, MYT1L, NAA10, NAA15, NARS1, NBAS, NCDN, NDUFA6, NDUFAF2, NDUFAF5, NDUFAF6, NDUFAF8, NDUFC2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEFL, NF1, NFIB, NGLY1, NIPA1, NKX2-1, NOTCH1, NOTCH3, NOVA2, NPRL3, NR2E3, NR3C2, NR4A2, NRAS, NRXN1, NSD1, NSD2, NSRP1, NT5C2, NTNG2, NUDT2, NUP107,0CA2, 0FD1, OPA1, OTOF, OTUD6B, 0TUD7A, PACS2, PAFAH1B1, PAX3, PAX5, PBX1, PCDH15, PCDH19, PCGF2, PDE10A, PDGFRA, PDX1, PEX7, PHC1, PI4KA, PIDD1, PIGP, PIGQ, PIGT, PIK3CA, PIK3R2, PKD2, PLA2G6, PLN, PLP1, PLXNA1, PMP22, PNKP, PNPLA1, POGZ, POLDI, POLG, POLH, POLR2A, POMT2, POR, PPFIBP1, PPIL1, PPP1CB, PPP2R1A, PPP3CA, PQBP1, PRDM5, PRKAR1A, PRKG1, PRKN, PROCID A, PRR12, PRRT2, PRSS1, PRX, PSAP, PSMC3, PTPN11, PTPN23, PTPRC, PTPRQ, PTRH2, PUF60, PURA, QRICH1, RAC1, RAC3, RAFI, RAI1, RALA, RASA1, RBM8A, RDX, REEP1, RIT1, RLIM, RMND1, RNASEH2B, RNF135, RNF170, RPGR, RPL36A-HNRNPH2, RPS6KA3, RRAS2, RRM2B, RSPH9, RTN2, RUNX1, S1PR2, SACS, SATB2, SCAMP5, SCAPER, SCN1B, SCN3A, SCN9A, SCO2, SCV000266570, SDHA, SELENON, SEMA3E, SERPINC1, SET, SETD1B, SETD5, SF3B4, SGSH, SHANK1, SHANK2, SHANK3, SHMT2, SHOC2, SIAH1, SKI, SLC16A2, SLC25A22, SLC25A4, SLC26A4, SLC2A10, SLC32A1, SLC33A1, SLC37A4, SLC3A1, SLC45A2, SLC5A5, SLITRK2, SMARCA2, SMC1A, SMC3, SMG9, SNAP25, SNX14, SON, SOS1, SOS2, SOX2, SOX4, SOX5, SP9, SPAST, SPG11, SPG7, SPRED2, SPTA1, SPTAN1, SRCAP, SRD5A2, SRD5A3, SRRM2, SRSF1, ST3GAL3, ST3GAL5, STX1A, STX1B, SURF1, SVBP, SYN1, TACR3, TAF6, TAF8, TANC2, TANGO2, TAOK1, TASP1, TBC1D24, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCTN1, TECRL, TECTA, TET3, TFE3, TG, TGFB2, TGFB3, TGM1, THBS2, THRA, THUMPD1, TLK2, TMC1, TMEM126B, TMEM147, TMEM70, TMIE, TMPRSS3, TNXB, TOP3A, TPM3, TPO, TRAPPC10, TRAPPC9, TRIM63, TRIP12, TRMT10C, TRPM3, TSEN54, TSHR, TTC19, TUBA1A, TUBB4A, TUSC3, TWNK, TYMP, TYR, UBA5, UBE3A, UGT1A1, UPF3B, UQCRFS1, USH1C, USH1G, USH2A, USP27X, VAMP1, VPS13B, WASF1, WBP4, WDR45, WDR62, WDR81, WFS1, WHRN, WNK3, WWOX, XPA, XPC, ZBTB18, ZC4H2, ZDHHC9, ZFYVE26, ZMYM2, ZMYND10, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF526, and ZNF711 or any other set of relevant variants provided herein, such as in Tables 1 and 2, or is a variant of any one or more, any combination, or all of the genes in Table 3, Table 4 or Table 5.

11. A method of assessing genetic predisposition to a set of diseases in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one, any combination, or all of a set of pathogenic variant(s) or likely pathogenic variant(s) for each disease in the set of diseases, wherein the set of diseases comprises one or more, any combination, or all of 1) ACTB-related Baraitser-Winter syndrome, ACTB-related disorder, ACTG1 -related Baraitser-Winter syndrome, ACTL6B-related developmental and epileptic encephalopathy, ACTL6B-related neurodevelopmental disorder, ADNP-related neurodevelopmental disorder with multiple anomalies, adrenoleukodystrophy, ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy, AHDC1 -related neurodevelopmental disorder, AMT-related glycine encephalopathy, Angelman syndrome, ANKRD11 -related disorder, ANKRD11- related KBG syndrome, ARID IB-related neurodevelopmental disorder, ASHIL-related neurodevelopmental disorder with multiple anomalies, ASXL3-related neurodevelopmental disorder with multiple anomalies, ataxia, AUTS2-related neurodevelopmental disorder, BCLl lA-related neurodevelopmental disorder with persistence of fetal hemoglobin, CASK- related neurodevelopmental disorder with multiple anomalies, CDKL5-related developmental and epileptic encephalopathy, CHAMP 1 -related neurodevelopmental disorder, CHARGE syndrome, CHD2-related developmental and epileptic encephalopathy, CHD3 -related neurodevelopmental disorder, CHD5-related neurodevelopmental disorder, CHD7-related CHARGE spectrum disorder, CHD8-related neurodevelopmental disorder, Christianson syndrome, CLPB-related caseinolytic peptidase B deficiency, CNOT3-related neurodevelopmental disorder, CREBBP-related neurodevelopmental disorder with multiple anomalies, CREBBP-related Rubinstein-Taybi syndrome, CSDEl-related neurodevelopmental disorder with ocular anomalies, CSNK2A1 -related neurodevelopmental syndrome, CTBPl-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder with multiple anomalies, Danon disease, DDX3X-related neurodevelopmental disorder, DEAF 1 -related neurodevelopmental and movement disorder, DHCR7 -related Smith-Lemli-Opitz syndrome, DHPS-related neurodevelopmental disorder, DYRK1 A-related neurodevelopmental disorder, dystonia, EBF3-related neurodevelopmental disorder with multiple anomalies, EHMT1 -related Kleefstra syndrome, ETHE1 -related ethylmalonic encephalopathy, FOXGl-related Rett spectrum disorder, FOXPl-related neurodevelopmental disorder, GLDC-related glycine encephalopathy, global developmental delay, GLUT1 deficiency syndrome, glycine encephalopathy with normal serum glycine, GRIN2B-related developmental and epileptic encephalopathy, GRIN2B-related neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, HI VEP2 -related neurodevelopmental disorder, HNRNPH2-related neurodevelopmental disorder with multiple anomalies, HNRNPU-related developmental and epileptic encephalopathy, Houge-Ianssens syndrome 2, KAT6A-related neurodevelopmental disorder with multiple anomalies, KIF1 A-related neurodegenerative spectrum disorder, Kleefstra syndrome, KMT5B-relatedneurodevelopmental disorder, Legius syndrome, Leigh syndrome, MBD5-related neurodevelopmental disorder, MECP2-related Rett spectrum disorder, MED13-related neurodevelopmental disorder with multiple anomalies, MED13L-related neurodevelopmental disorder with multiple anomalies, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, NFU1 -related multiple mitochondrial dysfunctions syndrome, Noonan syndrome, Okur-Chung neurodevelopmental syndrome, PACSl-related neurodevelopmental disorder with multiple anomalies, PEX1-, PEX2-, PEX3- , PEX5-, PEX6-, PEX10-, PEX12-, PEX13-, PEX14-, PEX16-, PEX19-, and PEX26-related Zellweger spectrum disorders, PHIP-related behavioral problems-intellectual disability- obesity-dysmorphic features syndrome, PPP2RSD-related neurodevelopmental disorder with multiple anomalies, Primrose syndrome, Rubinstein-Taybi syndrome, Schinzel-Giedion syndrome, SCNIA-related epilepsy, SCN2A-related developmental and epileptic encephalopathy, SCN2A-related epilepsy, SCN8A-related epilepsy, SCN8A-related neurodevelopmental and movement disorder, SETBP 1 -related neurodevelopmental disorder, SETBP 1 -related Schinzel-Giedion syndrome, SHORT syndrome, Shwachman-Diamond syndrome, SLC6A1 -related neurodevelopmental disorder, SLC9A6-related Christianson spectrum disorder, STXBP1 -related neurodevelopmental disorder, SUCLA2-related mitochondrial DNA depletion syndrome, SUCLG1 -related mitochondrial DNA depletion syndrome, SYNGAP1 -related neurodevelopmental disorder, TRIO-related neurodevelopmental disorder, tuberous sclerosis complex, UNCI 3 A-r elated neurodevelopmental and movement disorder, USP9X-related neurodevelopmental disorder with multiple anomalies, Wiskott-Aldrich syndrome, and Zellweger spectrum disorders; and / or 2) 3-methylglutaconic aciduria (such as type V), ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder, aceruloplasminemia, AC0X1 -related peroxisomal acyl- CoA oxidase deficiency, AC0X1 -related progressive myeloneuropathy with sensorineural hearing loss, acute intermittent porphyria, ALDH5 Al -related succinic semialdehyde dehydrogenase deficiency, alpha- 1 antitrypsin deficiency, AMT-related glycine encephalopathy, argininosuccinate lyase deficiency, BH4-deficient hyperphenylalaninemia, biotinidase deficiency, Charcot-Marie-Tooth disease, cystathionine beta synthase deficiency, DHCR7 -related Smith-Lemli-Opitz syndrome, Diamond-Blackfan syndrome, DICER1- related disorders, dihydropyrimidine dehydrogenase deficiency, disorders of the trifunctional protein complex, distal renal tubular acidosis, DLD-related dihydrolipoamide dehydrogenase deficiency, Fabry disease, factor VII deficiency, familial medullary thyroid cancer, Fanconi anemia, FOXP3 -related immunodysregulation, Gaucher disease, GLDC-related glycineencephalopathy, glucose-6-phosphate dehydrogenase deficiency, GLUT1 deficiency syndrome, glycine encephalopathy with normal serum glycine, Gorlin syndrome, gyrate atrophy, hereditary hemorrhagic telangiectasia, hereditary persistence of fetal hemoglobin, hereditary transthyretin-related amyloidosis, HSD17B10-related 17-beta-hydroxysteroid dehydrogenase deficiency, hyperprolinemia (such as type I), isovaleryl -Co A dehydrogenase deficiency, Krabbe disease, Leigh syndrome, malignant hyperthermia, maturity-onset diabetes of the young, multiple acyl-CoA dehydrogenase deficiency, multiple endocrine neoplasia types 1, 2, 2A, 2B, and 4, MUTYH-associated polyposis, myofibrillar myopathy, neurofibromatosis type 2, nonsyndromic hearing loss and deafness, ornithine transcarbamylase deficiency, Peutz-Jeghers syndrome, PHGDH deficiency, Pompe disease, primary ciliary dyskinesia, PTEN hamartoma tumor syndrome, pyridoxal phosphateresponsive seizures, Refsum disease, renal cysts and diabetes syndrome, retinoblastoma, rhabdoid tumor predisposition syndrome, RPE65-related retinopathy, SERAC 1 -related 3- methylglutaconic aciduria, Shwachman-Diamond syndrome, vasculitis due to ADA2 deficiency, Von Hippel-Lindau syndrome, von Willebrand disease, Wilms tumor, Wilson disease, Wiskott-Aldrich syndrome, and zinc deficiency (such as transient neonatal zinc deficiency); and / or 3) arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, Ehlers- Danlos syndrome (such as the vascular type, spondylodysplastic type, and kyphoscoliotic type), familial aortopathy, familial hypercholesterolemia, familial thoracic aortic aneurysm, hypertrophic cardiomyopathy, Loeys-Dietz syndrome, long QT syndrome, long QT syndrome type 1, long QT syndrome type 2, long QT syndrome type 3, and Marfan syndrome.

12. The method of any claim 11, wherein the pathogenic variant or a likely pathogenic variant is of one or more, any combination, or all of 1) ACTB, ACTG1, ACTL6B, ADNP, ABCD1, ADSL, AHDC1, AMT, CDKL5, MECP2, TPP1, ANKRD11, ARID IB, ASH1L, ASXL3, AUTS2, BCL11A, CASK, CHAMP1, CHD7, EP300, KMT2D, PUF60, RERE, SEMA3E, CHD2, CHD3, CHD5, CHD8, SLC9A6, CLPB, CN0T3, CREBBP, CSDE1, CSNK2A1, CTBP1, CTCF, LAMP2, DDX3X, DEAF1, DHCR7, DHPS, DYRK1A, GCH1, SPR, EBF3, EHMT1, ETHE1, F0XG1, FOXP1, GLDC, ACTL6B, ADGRL1, AGTPBP1, AHI1, AKT3, AP4M1, ARF3, ARFGEF1, ARFGEF2, ARHGEF9, ATP1A3, ATRX, BCAS3, BPTF, BRPF1, BTD, C12orf57, C19orfl2, CACNA1A, CAMK2A, CAMK2G, CDK13, CEP290, C0L12A1, COQ8A, CPLANE1, CTNNB1, CUL4B, CYFIP2, CYP2U1, DDHD2, DIAPH1, D0CK3, DPH1, DSP, DYNC1H1, EFTUD2, EMC1, FARS2, FBXL4, FLNA,F0XP4, GABBR1, GEMIN4, GNB1, GNB2, GNB5, GRM1, GRM7, H3-3A, H3-3B, HACE1, HEXA, KANSL1, KARS1, KAT6A, KCNN2, KCNQ2, KCNQ5, KMT2B, KMT2E, LAS1L, LRRC32, LSM1, MED13L, MFF, MFN2, MGAT2, MKS1, M0RC2, MT01, NAA15, NDST1, NSD2, NTNG2, NUP107, PACS1, PCGF2, PDE10A, PIGQ, PIGT, PIK3CA, PLA2G6, POGZ, POLG, PPP2R5D, PTEN, PTPN11, PTPN23, PTRH2, PURA, RAC1, RBM8A, RLIM, RPE65, SCAMP5, SCN1A, SCN8A, SET, SHANK3, SLC2A1, SLC6A1, SMARCA5, SMG9, SNAP25, SON, SRD5A3, TAF6, TAOK1, TASP1, TBCK, TCF4, TCTN1, TRPM3, TSEN54, TUBA1A, TUBB4A, VPS13B, WDR45, WWOX, ZMYM3, ZMYND11, ZSCAN10, AMT, DNAH5, GRIN2B, HECW2, HIVEP2, HNRNPH2, HNRNPU, PPP2R1A, KIF1A, KMT5B, SPRED1, ATP5PO, BCS1L, COX15, ECHS1, FASTKD2, FOXRED1, IARS2, MRPL39, MRPS34, MT-ATP6, MT-CO3, MT-CYB, MT- ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1, MT-TW, MTFMT, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1, TPK1, MBD5, MED13, TRIO, NFU1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, RAFI, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED2, PACS1, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PHIP, PPP2RSD, ZBTB20, SETBP1, SCN2A, PIK3R1, DNAJC21, SBDS, SRP54, STXBP1, SUCLA2, SUCLG1, SYNGAP1, SERPINC1, TSC1, TSC2, UNCI 3 A, USP9X, WAS, PEX1, PEX2, PEX5, PEX6, PEX10, and PEX19; and / or 2) DNAJC19, ACBD5, CP, ACOX1, HMBS, ALDH5A1, PROCID A, SERPINA1, AMT, ASL, BH4, BTD, ATP7A, MT-ATP6, PMP22, TTR, CBS, DHCR7, GATA1, HEATR3, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, TP53, DICER1, DPYD, HADHA, HADHB, ATP6V0A4, ATP6V1B1, SLC4A1, WDR72, DLD, GALC, GLA, F7, NTRK1, RET, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, FOXP3, GBA1, MSH6, PRX, GLDC, G6PD, SLC2A1, DNAH5, PTCHI, SUFU, OAT, ACVRL1, ENG, RASA1, HBB, HSD17B10, ALDH4A1, IVD, ATP5PO, BCS1L, COX15, ECHS1, FARS2, FASTKD2, FBXL4, FOXRED1, IARS2, MRPL39, MRPS34, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1, MT-TW, MTFMT, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1, TPK1, RYR1, HNF1A, HNF4A, ETFA, ETFB, ETFDH, FLAD1, TSC2, MEN1, CDKN1B, MUTYH, DES, FLNC, LDB3, MYOT, C19orfl2, NF1, SPRED1, CABP2, CDH23, CIB2, CLDN14, COCH, ERCC8, ESPN, GIB2, GIB6, GIB6-D13S1830, GRXCR1, ILDR1, KCNQ4, LHFPL5, MARVELD2, MYO 15 A, MY03A, MY06, MY07A, OTO A, OTOF, OTOG, OTOGL, PIVK, PTPRQ,RDX, S1PR2, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIO, TRIOBP, WHRN, OTC, STK11, PHGDH, GAA, CCDC39, CCDC40, CCNO, CFAP300, DAW1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAL1, DRCI, DRC2, GCDH, HYDIN, MCIDAS, 0DAD1, 0DAD2, OFD1, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1, ZMYND10, PTEN, PNPO, PEX7, PHYH, HNF1B, RBI, SMARCA4, SMARCB1, RPE65, SERAC1, DNAIC21, SBDS, SRP54, ADA2, SDHB, VHL, VWF, BRCA2, GPC3, IGF2, WT1, ATP7B, WAS, SLC30A2, and RET; and / or 3) CTNNA3, DES, DSC2, DSG2, DSP, FLNC, LMNA, MYBPC3, PKP2, TMEM43, CACNA1C, SCN5A, CALM1, CASQ2, RYR2, TRDN, ACTC1, BAG3, DMD, MYH7, MYPN, RAFI, RBM20, TNNI3, TNNT2, TPM1, TTN, ABCD1, B3GALT6, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DCLRE1C, PLOD1, PRDM5, SMAD3, THBS2, TNXB, ACTA2, BGN, EFEMP2, F8, FBN1, SLC12A3, SLC2A10, SMAD4, TGFB2, TGFBR1, APOB, LDLR, LDLRAP1, PCSK9, FBN2, FLNA, LOX, MAT2A, MED12, MYH11, MYLK, NOTCH1, PRKG1, SCV000266570, SKI, TGFB3, TGFBR2, ACTN2, ALPK3, CASR, GLA, IPH2, KIF5B, LAMP2, MT-TL1, MYL2, MYL3, PLN, PRKAG2, SLC25A4, TNNC1, TRIM63, ABCA3, CAV3, KCNE1, KCNE2, KCNH2, KCNI2, KCNI5, KCNQ1, PTPN11, SLC2A2, TECRL, DSP, KCNH2, KCNQ1, SCN5A, FBN1, TGFBR1, and TGFBR2.

13. The method of any one of claims 1-12, wherein the steps of the method are repeated.

14. The method of claim 13, wherein the steps of the method are repeated monthly, quarterly, or yearly.

15. The method of any one of claims 1-14, wherein the method further comprises a step of treatment, prevention, intervention and / or monitoring of the subject, such as any one of the steps of treatment, prevention, intervention and / or monitoring provided herein.

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