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- Antithrombin III deficiency
- Arrhythmogenic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Atrial fibrillation
- Brugada syndrome (BrS)
- Carvajal syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Danon disease
- Dilated cardiomyopathy (DCM)
- Dystrophinopathy
- Ehlers-Danlos syndrome (EDS), classic type (types I/II)
- Ehlers-Danlos syndrome (EDS), vascular type (type IV)
- Emery-Dreifuss muscular dystrophy
- Fabry disease
- Factor IX deficiency (hemophilia B)
- Factor V Leiden-related thrombophilia
- Familial hypercholesterolemia (FH)
- Hereditary hemorrhagic telangiectasia (HHT)
- Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
- Hypertrophic cardiomyopathy (HCM)
- Jervell and Lange-Nielsen syndrome (JLNS)
- Left ventricular noncompaction (LVNC)
- Limb-girdle muscular dystrophy type 2F
- Loeys-Dietz syndrome (LDS)
- Long QT syndrome
- Marfan syndrome and other FBN1-related conditions
- Myofibrillar Myopathy
- Naxos disease
- NKX2-5-related conditions
- Protein C deficiency
- Protein S deficiency
- Prothrombin-related thrombophilia
- Pulmonary arterial hypertension (PAH)
- Restrictive cardiomyopathy (RCM)
- Short QT syndrome
- Thoracic aortic aneurysms and aortic dissections (TAAD)
- Timothy syndrome
- Wolff-Parkinson-White syndrome (WPW)
- ATM-related conditions
- BARD1-related conditions
- EGFR-related conditions
- KIT-related conditions
- MITF-related conditions
- NTHL1-associated polyposis
- POLD1-related conditions
- POLE-related conditions
- POT1-related conditions
- PRKAR1A-related conditions
- PTEN-related conditions
- SMARCA4-related tumors
- Autosomal dominant oligodontia-colorectal cancer syndrome
- BAP1-related conditions
- Basal cell nevus syndrome (BCNS) / Gorlin Syndrome
- Birt-Hogg-Dubé (BHD) syndrome
- BRCA1/BRCA2-Associated Hereditary breast and ovarian cancer (HBOC) syndrome
- BRIP1-related cancer risk
- CDC73-related conditions
- CDK4-related cutaneous melanoma
- CHEK2-related conditions
- Coffin-Siris syndrome
- Constitutional mismatch repair deficiency syndrome (CMMR-D)
- DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome
- Familial adenomatous polyposis (FAP), Attenuated familial adenomatous polyposis (AFAP)
- Familial erythrocytosis
- Familial isolated pituitary adenoma (FIPA)
- Fanconi Anemia
- FH-related conditions
- GIST-plus syndrome
- Hereditary diffuse gastric cancer (HDGC)
- Hereditary mixed polyposis syndrome
- Hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome
- Hirschsprung disease
- HOXB13-related predisposition to prostate cancer
- Juvenile polyposis syndrome (JPS)
- Li Fraumeni syndrome (LFS)
- Lynch syndrome
- Melanoma-pancreatic cancer syndrome and melanoma-neural system tumor syndrome
- MET-related conditions
- MSH3-associated polyposis
- Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type 2 (MEN2)
- Multiple endocrine neoplasia type 4 (MEN4)
- MUTYH-associated polyposis (MAP)
- Neurofibromatosis type 1 (NF1)
- Noonan spectrum disorders (NSDs) / RASopathies
- PALB2-related conditions
- Peutz-Jeghers syndrome (PJS)
- RAD51C-related cancers
- RAD51D-related cancers
- Retinoblastoma (Rb)
- Schwannomatosis
- SMARCB1-related tumors
- Tuberous sclerosis complex
- von Hippel-Lindau syndrome
- WT1-related disorders
