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"inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019180", "name": "Hereditäre hämorrhagische Teleangiektasie", "genes": 3, "inheritance": "autosomal-dominant", "description": "Eine Störung der Angiogenese, die zu arteriovenösen Gefäßerweiterungen führt: kutan-muköse hämorrhagische Teleangiektasien und viszerales Shunting.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0001576", "name": "Teleangiektasie", "genes": 3, "inheritance": null, "description": "Lokale Erweiterung kleiner Gefäße, die zu einer rötlichen Verfärbung der Haut oder Schleimhäute führt.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/hereditary-hemorrhagic-telangiectasia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-physiology", "name": "Abnormal cardiovascular system physiology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-physiology" }, { "slug": "abnormal-circle-of-willis-morphology", "name": "Abnormal circle of Willis morphology", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circle-of-willis-morphology" }, { "slug": "abnormal-brainstem-morphology", "name": "Abnormal shape of brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology" }, { "slug": "abnormal-cerebral-vascular-morphology", "name": "Abnormality of the cerebral blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology" }, { "slug": "adenomatous-colonic-polyposis", "name": "Adenomatous colonic polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adenomatous-colonic-polyposis" }, { "slug": "anemic-pallor", "name": "Anemic pallor", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemic-pallor" }, { "slug": "arteriovenous-fistulas-of-celiac-and-mesenteric-vessels", "name": "Arteriovenous fistulas of celiac and mesenteric vessels", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/arteriovenous-fistulas-of-celiac-and-mesenteric-vessels" }, { "slug": "arteriovenous-malformation", "name": "Arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arteriovenous-malformation" }, { "slug": "melena", "name": "Black feces", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/melena" }, { "slug": "cerebral-hemorrhage", "name": "Bleeding in brain", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-hemorrhage" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "pulmonary-embolism", "name": "Blood clot in artery of lung", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-embolism" }, { "slug": "venous-thrombosis", "name": "Blood clot in vein", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/venous-thrombosis" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "cyanosis", "name": "Blue discoloration of the skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cyanosis" }, { "slug": "brain-abscess", "name": "Brain abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/brain-abscess" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cerebral-arteriovenous-malformation", "name": "Cerebral arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-arteriovenous-malformation" }, { "slug": "cerebral-berry-aneurysm", "name": "Cerebral berry aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-berry-aneurysm" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "dilatation-of-celiac-artery", "name": "Dilatation of celiac artery", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/dilatation-of-celiac-artery" }, { "slug": "dilatation-of-mesenteric-artery", "name": "Dilatation of mesenteric artery", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/dilatation-of-mesenteric-artery" }, { "slug": "duodenal-polyposis", "name": "Duodenal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/duodenal-polyposis" }, { "slug": "encephalomalacia", "name": "Encephalomalacia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/encephalomalacia" }, { "slug": "esophageal-varix", "name": "Enlarged vein in esophagus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-varix" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "gastrointestinal-angiodysplasia", "name": "Gastrointestinal angiodysplasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/gastrointestinal-angiodysplasia" }, { "slug": "gastrointestinal-arteriovenous-malformation", "name": "Gastrointestinal arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-arteriovenous-malformation" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "intestinal-polyposis", "name": "Growths in inner lining of intestine", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-polyposis" }, { "slug": "hemothorax", "name": "Hemothorax", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/hemothorax" }, { "slug": "hepatic-arteriovenous-malformation", "name": "Hepatic arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-arteriovenous-malformation" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-output-congestive-heart-failure", "name": "High-output congestive heart failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/high-output-congestive-heart-failure" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "polycythemia", "name": "Increased red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/polycythemia" }, { "slug": "ischemic-stroke", "name": "Ischemic stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ischemic-stroke" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "hypoxemia", "name": "Low blood oxygen level", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/hypoxemia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "mucosal-telangiectasiae", "name": "Mucosal telangiectasiae", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mucosal-telangiectasiae" }, { "slug": "multiple-gastric-polyps", "name": "Multiple gastric polyps", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-gastric-polyps" }, { "slug": "nail-bed-telangiectasia", "name": "Nail bed telangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nail-bed-telangiectasia" }, { "slug": "atherosclerosis", "name": "Narrowing and hardening of arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atherosclerosis" }, { "slug": "oculomotor-nerve-palsy", "name": "Oculomotor nerve palsy", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oculomotor-nerve-palsy" }, { "slug": "palate-telangiectasia", "name": "Palatal spider veins", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/palate-telangiectasia" }, { "slug": "visual-field-defect", "name": "Partial loss of field of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-field-defect" }, { "slug": "peripheral-arteriovenous-fistula", "name": "Peripheral arteriovenous fistula", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-arteriovenous-fistula" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "pulmonary-arteriovenous-malformation", "name": "Pulmonary arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arteriovenous-malformation" }, { "slug": "pulmonary-hemorrhage", "name": "Pulmonary hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-hemorrhage" }, { "slug": "hematochezia", "name": "Rectal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematochezia" }, { "slug": "rectal-polyposis", "name": "Rectal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rectal-polyposis" }, { "slug": "spontaneous-recurrent-epistaxis", "name": "Recurring nosebleed", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spontaneous-recurrent-epistaxis" }, { "slug": "reduced-fev1-fvc-ratio", "name": "Reduced FEV1/FVC ratio", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-fev1-fvc-ratio" }, { "slug": "retinal-telangiectasia", "name": "Retinal telangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-telangiectasia" }, { "slug": "right-to-left-shunt", "name": "Right-to-left shunt", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/right-to-left-shunt" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "fingerpad-telangiectases", "name": "Small dilated blood vessels in fingerpads", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fingerpad-telangiectases" }, { "slug": "conjunctival-telangiectasia", "name": "Small dilated blood vessels near membrane covering front of eye and eyelids", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conjunctival-telangiectasia" }, { "slug": "small-intestinal-polyposis", "name": "Small intestinal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/small-intestinal-polyposis" }, { "slug": "gastrointestinal-telangiectasia", "name": "Small, enlarged blood vessels near skin", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/gastrointestinal-telangiectasia" }, { "slug": "telangiectasia", "name": "Spider veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/telangiectasia" }, { "slug": "nasal-mucosa-telangiectasia", "name": "Spider veins of mucosa of nose", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nasal-mucosa-telangiectasia" }, { "slug": "lip-telangiectasia", "name": "Spider veins of the lip", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lip-telangiectasia" }, { "slug": "tongue-telangiectasia", "name": "Spider veins of the tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tongue-telangiectasia" }, { "slug": "spinal-arteriovenous-malformation", "name": "Spinal arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spinal-arteriovenous-malformation" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "aortic-dissection", "name": "Tear in inner wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-dissection" }, { "slug": "telangiectasia-of-the-skin", "name": "Telangiectasia of the skin", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin" }, { "slug": "venous-varicosities-of-celiac-and-mesenteric-vessels", "name": "Venous varicosities of celiac and mesenteric vessels", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/venous-varicosities-of-celiac-and-mesenteric-vessels" }, { "slug": "visceral-angiomatosis", "name": "Visceral angiomatosis", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visceral-angiomatosis" }, { "slug": "hematemesis", "name": "Vomiting blood", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hematemesis" }, { "slug": "hemiparesis", "name": "Weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiparesis" } ], "related": [ { "slug": "gdf2", "symbol": "GDF2", "name": "growth differentiation factor 2", "shared": 3, "url": "https://dantelabs.com/de/genes/gdf2" }, { "slug": "acvrl1", "symbol": "ACVRL1", "name": "activin A receptor like type 1", "shared": 2, "url": "https://dantelabs.com/de/genes/acvrl1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 46, "url": "https://dantelabs.com/genes/eng/variants", "items": [ { "slug": "c-2t-g", "name": "c.2T>G", "commonName": null, "symbol": "ENG", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 127854354, "grch37Position": 130616633, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/eng/variants/c-2t-g" }, { "slug": "c382y", "name": "C382Y", "commonName": null, "symbol": "ENG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1145G>A", "position": 127820027, "grch37Position": 130582306, "part": { "kind": "exon", "number": 9 }, "url": 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