Allelic Variant Name
AMYLOID POLYNEUROPATHY, APPALACHIAN TYPE
TRANSTHYRETIN POLYMORPHISM
AMYLOIDOSIS, SENILE
AMYLOID POLYNEUROPATHY, RUKAVINA OR INDIANA TYPE
AMYLOIDOSIS, OCULOLEPTOMENINGEAL
RUBINSTEIN-TAYBI SYNDROME
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
CARDIOMYOPATHY, DILATED, 1E
HEART BLOCK, NONPROGRESSIVE
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CARDIOMYOPATHY, DILATED, 3B
PREMATURE OVARIAN FAILURE 2A
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
SEA-BLUE HISTIOCYTE DISEASE
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
HEPATOBLASTOMA
NASOPHARYNGEAL CARCINOMA, SOMATIC
COLON CANCER, SUSCEPTIBILITY TO
POLYCYSTIC KIDNEY DISEASE 1, SEVERE
RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE
CARPAL TUNNEL SYNDROME, FAMILIAL
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
OMENN SYNDROME
KALLMANN SYNDROME 3
HYPERCHOLANEMIA, FAMILIAL
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
NOONAN SYNDROME 4
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG
HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE AND CLEFT PALATE
OBESITY, VARIATION IN
REMOVED FROM DATABASE
DEAFNESS, AUTOSOMAL DOMINANT 23
GRISCELLI SYNDROME, TYPE 2
KERATITIS, AUTOSOMAL DOMINANT
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY, AUTOSOMAL
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
NON-HODGKIN LYMPHOMA
ADRENOCORTICAL CARCINOMA, PEDIATRIC
OSTEOSARCOMA
COLORECTAL CANCER
NIJMEGEN BREAKAGE SYNDROME
PANCREATITIS, CHRONIC
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH CUTANEOUS LICHEN AMYLOIDOSIS
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
SIALIDOSIS, TYPE I
(Cardiomyopathy, Dilated, 1D)
HYPERTHYROXINEMIA, FAMILIAL DYSPREALBUMINEMIC EUTHYROID
TRANSTHYRETIN SER-6 POLYMORPHISM
BURKITT LYMPHOMA
IgA NEPHROPATHY, SUSCEPTIBILITY TO
RENAL TUBULAR DYSGENESIS
LONG QT SYNDROME 2/3, DIGENIC
GRAVES DISEASE, SUSCEPTIBILITY TO, 4
NONSMALL CELL LUNG CANCER
COMBINED IMMUNODEFICIENCY, X-LINKED
PROSTATE CANCER, HEREDITARY, 12
FOVEAL HYPOPLASIA, ISOLATED
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY
HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
APOE2 ISOFORMS
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
MYOPATHY, CENTRONUCLEAR
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, PROTECTION AGAINST
SIALIDOSIS, TYPE II
NEMALINE MYOPATHY, 5
Dilated cardiomyopathy
PREALBUMIN CHICAGO
ACATALASEMIA, JAPANESE TYPE
RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO
LONG QT SYNDROME 3
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
LEUKOCYTE ADHESION DEFICIENCY
PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN, SUSCEPTIBILITY
DUCHENNE MUSCULAR DYSTROPHY
BRUGADA SYNDROME 4
POLYPOSIS SYNDROME, HEREDITARY MIXED, 2
PSEUDOHYPOALDOSTERONISM, TYPE IIB
PORPHYRIA, ACUTE HEPATIC, SEVERE INFANTILE-ONSET FORM
AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM
AMYOTROPHIC LATERAL SCLEROSIS 8
ECTOPIA PUPILLAE
MORNING GLORY DISC ANOMALY
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
RETINITIS PIGMENTOSA 4
HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III
APOE2-DUNEDIN
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE LEIDEN
TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
DYSTONIA 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3
AMYLOID POLYNEUROPATHY, MAHLOUDJI OR MARYLAND TYPE
AMYLOIDOSIS, CARDIAC OR DENMARK TYPE
AMYLOIDOSIS, LEPTOMENINGEAL
GASTRIC CANCER, SOMATIC
TOOTH AGENESIS, SELECTIVE, 3
INTERMEDIATE MUSCULAR DYSTROPHY
BECKER MUSCULAR DYSTROPHY, ATYPICAL
HYDROCEPHALUS, X-LINKED
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
GM1-GANGLIOSIDOSIS, TYPE I
GM1-GANGLIOSIDOSIS, TYPE II
GM1-GANGLIOSIDOSIS, TYPE III
PORPHYRIA, ACUTE HEPATIC
OPTIC NERVE HYPOPLASIA, BILATERAL
COLOBOMA OF OPTIC NERVE
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR
ALZHEIMER DISEASE 2
APOE3 ISOFORM
LIPOPROTEIN GLOMERULOPATHY
APOE4(-)-FREIBURG
APOE4(+)
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
WAARDENBURG-SHAH SYNDROME
LEUKEMIA, ACUTE LYMPHOBLASTIC
POLYCYSTIC KIDNEY DISEASE 1
TROPICAL CALCIFIC PANCREATITIS
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
CARDIOMYOPATHY, DILATED, 1D
RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
WHIM SYNDROME
ACQUIRED IMMUNODEFICIENCY SYNDROME, RAPID PROGRESSION TO
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
MASA SYNDROME
ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
MORQUIO SYNDROME B
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
PETERS ANOMALY
ANIRIDIA
RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE
APOE4 VARIANT
DYSBETALIPOPROTEINEMIA DUE TO APOE2
LI-FRAUMENI SYNDROME
MOVED TO 191170.0018
TOWNES-BROCKS SYNDROME
PROSTATE CANCER
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
THYROID CARCINOMA, FAMILIAL MEDULLARY
AMYLOIDOSIS, SYSTEMIC, NEUROPATHIC, AND LEPTOMENINGEAL
AMYLOID POLYNEUROPATHY, ANDRADE OR PORTUGUESE TYPE
TRANSTHYRETIN ACIDIC ASN-90 VARIANT
AMYLOID POLYNEUROPATHY, JEWISH TYPE
AMYLOID CARDIOMYOPATHY
AMYLOID POLYNEUROPATHY
AMYLOID POLYNEUROPATHY, GERMAN-AMERICAN TYPE
TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF
HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
CRASH SYNDROME
MACHADO-JOSEPH DISEASE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
BRANCHIOOTIC SYNDROME 3
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS
NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,
APOE2 VARIANT
APOLIPOPROTEINEMIA E1
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
LI-FRAUMENI SYNDROME 1
BREAST CANCER, SOMATIC
CODON 72 POLYMORPHISM
PANCREATIC CANCER, SOMATIC
HEPATOCELLULAR CARCINOMA, SOMATIC
ABCD SYNDROME
OCULOPHARYNGEAL MUSCULAR DYSTROPHY
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
AMYLOIDOSIS, FAMILIAL
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
BRUGADA SYNDROME
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST
HEPATITIS C VIRUS, RESISTANCE TO
DEAFNESS, AUTOSOMAL RECESSIVE, 24
FIBROMATOSIS, GINGIVAL, 1
BECKER MUSCULAR DYSTROPHY
HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
PITUITARY TUMOR, INVASIVE, SOMATIC
JUVENILE POLYPOSIS OF INFANCY
JUVENILE POLYPOSIS SYNDROME
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES
OPTIC NERVE APLASIA, BILATERAL
NONSMALL CELL LUNG CANCER, RESISTANCE TO TYROSINE KINASE INHIBITOR
APOE3(-)-FREIBURG
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
HYPERLIPOPROTEINEMIA, TYPE III
APOE3 VARIANT
CHOROID PLEXUS PAPILLOMA
EPENDYMOMA, INTRACRANIAL
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME
RENAL AGENESIS
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA