{ "url": "https://dantelabs.com/pl/genes/acvrl1", "gene": { "slug": "acvrl1", "symbol": "ACVRL1", "name": "activin A receptor like type 1", "hgnc": "HGNC:175", "summary": null, "location": "12q13.13", "locusType": "gene with protein product", "aliases": [ "HHT2", "ALK1", "HHT" ], "previousSymbols": [ "ACVRLK1", "ORW2" ], "ensemblId": "ENSG00000139567", "entrezId": 94, "omim": [ "601284" ], "uniprot": [ "P37023" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 51907504, "end": 51923361, "strand": "+", "ensemblTranscript": "ENST00000388922.9", "refseqTranscript": "NM_000020.3", "ensemblProtein": "ENSP00000373574.4", "refseqProtein": "NP_000011.2", "exons": [ { "start": 51907504, "end": 51907695 }, { "start": 51912470, "end": 51912535 }, { "start": 51913099, "end": 51913350 }, { "start": 51913559, "end": 51913770 }, { "start": 51913974, "end": 51914073 }, { "start": 51914439, "end": 51914585 }, { "start": 51915225, "end": 51915500 }, { "start": 51916036, "end": 51916233 }, { "start": 51918985, "end": 51919115 }, { "start": 51920759, "end": 51923361 } ], "cds": { "start": 51912475, "end": 51920893 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 52300692, "end": 52317145, "strand": "+" }, "neighbourhood": { "release": "116", "start": 51415433, "end": 52415432, "genes": [ { "symbol": "SLC4A8", "ensemblId": "ENSG00000050438", "biotype": "protein_coding", "start": 51391317, "end": 51515763, "strand": "+", "slug": "slc4a8" }, { "symbol": "SCN8A", "ensemblId": "ENSG00000196876", "biotype": "protein_coding", "start": 51590266, "end": 51812864, "strand": "+", "slug": "scn8a" }, { "symbol": "TMDD1", "ensemblId": "ENSG00000284730", "biotype": "protein_coding", "start": 51813921, "end": 51814925, "strand": "-", "slug": "tmdd1" }, { "symbol": "FIGNL2", "ensemblId": "ENSG00000261308", "biotype": "protein_coding", "start": 51817899, "end": 51848729, "strand": "-", "slug": "fignl2" }, { "symbol": "ANKRD33", "ensemblId": "ENSG00000167612", "biotype": "protein_coding", "start": 51888009, "end": 51891727, "strand": "+", "slug": "ankrd33" }, { "symbol": "ACVR1B", "ensemblId": "ENSG00000135503", "biotype": "protein_coding", "start": 51951675, "end": 51997082, "strand": "+", "slug": "acvr1b" }, { "symbol": "TAMALIN", "ensemblId": "ENSG00000161835", "biotype": "protein_coding", "start": 52006941, "end": 52015893, "strand": "+", "slug": "tamalin" }, { "symbol": "NR4A1", "ensemblId": "ENSG00000123358", "biotype": "protein_coding", "start": 52022832, "end": 52059509, "strand": "+", "slug": "nr4a1" }, { "symbol": "ATG101", "ensemblId": "ENSG00000123395", "biotype": "protein_coding", "start": 52069246, "end": 52077495, "strand": "+", "slug": "atg101" }, { "symbol": "SMIM41", "ensemblId": "ENSG00000284791", "biotype": "protein_coding", "start": 52079704, "end": 52108255, "strand": "+", "slug": "smim41" }, { "symbol": "KRT80", "ensemblId": "ENSG00000167767", "biotype": "protein_coding", "start": 52168996, "end": 52192311, "strand": "-", "slug": "krt80" }, { "symbol": "KRT7", "ensemblId": "ENSG00000135480", "biotype": "protein_coding", "start": 52232520, "end": 52252186, "strand": "+", "slug": "krt7" }, { "symbol": "KRT86", "ensemblId": "ENSG00000170442", "biotype": "protein_coding", "start": 52249300, "end": 52309163, "strand": "+", "slug": "krt86" }, { "symbol": "KRT81", "ensemblId": "ENSG00000205426", "biotype": "protein_coding", "start": 52285913, "end": 52291534, "strand": "-", "slug": "krt81" }, { "symbol": "KRT83", "ensemblId": "ENSG00000170523", "biotype": "protein_coding", "start": 52314301, "end": 52321398, "strand": "-", "slug": "krt83" }, { "symbol": "KRT85", "ensemblId": "ENSG00000135443", "biotype": "protein_coding", "start": 52360006, "end": 52367481, "strand": "-", "slug": "krt85" }, { "symbol": "KRT84", "ensemblId": "ENSG00000161849", "biotype": "protein_coding", "start": 52377812, "end": 52385652, "strand": "-", "slug": "krt84" }, { "symbol": "KRT82", "ensemblId": "ENSG00000161850", "biotype": "protein_coding", "start": 52393931, "end": 52406335, "strand": "-", "slug": "krt82" } ], "truncated": false }, "reports": [ { "slug": "hereditary-hemorrhagic-telangiectasia", "name": "Dziedziczna krwotoczna telangiektazja", "diseases": [ { "mondoId": "MONDO:0010880", "name": "Telangiektazja dziedziczna krwotoczna, typ 2", "genes": 1, "inheritance": "autosomal-dominant", "description": "Każda dziedziczna krwotoczna telangiektazja, w której przyczyną choroby jest mutacja w genie ACVRL1.", "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 }, { "mondoId": "MONDO:0019180", "name": "Dziedziczna krwotoczna telangiektazja", "genes": 3, "inheritance": "autosomal-dominant", "description": "Zaburzenie angiogenezy prowadzące do poszerzeń tętniczo-żylnych: krwotocznych telangiektazji skórno-śluzówkowych oraz przecieków trzewnych.", "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": "Telangiektazja", "genes": 3, "inheritance": null, "description": "Miejscowe poszerzenie małych naczyń, prowadzące do czerwonego zabarwienia skóry lub błon śluzowych.", "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/pl/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-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": "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" ], "frequency": "frequent", "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": "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" ], "url": "https://dantelabs.com/traits/dyspnea" }, { "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": "choriocapillaris-atrophy", "name": "Choriocapillaris atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/choriocapillaris-atrophy" }, { "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": "occasional", "url": "https://dantelabs.com/traits/hemoptysis" }, { "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": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "facial-telangiectasia", "name": "Facial telangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/facial-telangiectasia" }, { "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": "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": "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" ], "url": "https://dantelabs.com/traits/hypertension" }, { "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": "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": "occasional", "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": "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": "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": "palmar-telangiectasia", "name": "Palmar telangiectasia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmar-telangiectasia" }, { "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": "hematochezia", "name": "Rectal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hematochezia" }, { "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": "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": "gastrointestinal-telangiectasia", "name": "Small, enlarged blood vessels near skin", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrointestinal-telangiectasia" }, { "slug": "telangiectasia", "name": "Spider veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "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": "oral-cavity-telangiectasia", "name": "Spider veins of the mouth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oral-cavity-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": "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": "telangiectasia-of-the-skin", "name": "Telangiectasia of the skin", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin" }, { "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" } ], "related": [ { "slug": "eng", "symbol": "ENG", "name": "endoglin", "shared": 2, "url": "https://dantelabs.com/pl/genes/eng" }, { "slug": "gdf2", "symbol": "GDF2", "name": "growth differentiation factor 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/gdf2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 92, "url": "https://dantelabs.com/genes/acvrl1/variants", "items": [ { "slug": "c46s", "name": "C46S", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.137G>C", "position": 51913174, "grch37Position": 52306958, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c46s" }, { "slug": "c51g", "name": "C51G", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.151T>G", "position": 51913188, "grch37Position": 52306972, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c51g" }, { "slug": "c89f", "name": "C89F", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.266G>T", "position": 51913303, "grch37Position": 52307087, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c89f" }, { "slug": "c207lfs51", "name": "C207Lfs*51", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.620del", "position": 51914067, "grch37Position": 52307851, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c207lfs51" }, { "slug": "e236k", "name": "E236K", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.706G>A", "position": 51914519, "grch37Position": 52308303, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/e236k" }, { "slug": "h328y", "name": "H328Y", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.982C>T", "position": 51915434, "grch37Position": 52309218, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/h328y" }, { "slug": "n98s", "name": "N98S", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.293A>G", "position": 51913330, "grch37Position": 52307114, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/n98s" }, { "slug": "q490x", "name": "Q490X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1468C>T", "position": 51920849, "grch37Position": 52314633, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q490x" }, { "slug": "r411q", "name": "R411Q", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1232G>A", "position": 51916219, "grch37Position": 52310003, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r411q" }, { "slug": "s186i", "name": "S186I", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.557G>T", "position": 51914005, "grch37Position": 52307789, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s186i" }, { "slug": "s333i", "name": "S333I", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.998G>T", "position": 51915450, "grch37Position": 52309234, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s333i" }, { "slug": "w406x", "name": "W406X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1217G>A", "position": 51916204, "grch37Position": 52309988, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/w406x" }, { "slug": "a49gfs120", "name": "A49Gfs*120", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.145dup", "position": 51913176, "grch37Position": 52306960, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/a49gfs120" }, { "slug": "a400d", "name": "A400D", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1199C>A", "position": 51916186, "grch37Position": 52309970, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/a400d" }, { "slug": "a400t", "name": "A400T", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1198G>A", "position": 51916185, "grch37Position": 52309969, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/a400t" }, { "slug": "a400v", "name": "A400V", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1199C>T", "position": 51916186, "grch37Position": 52309970, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/a400v" }, { "slug": "c-61plus1g-a", "name": "c.61+1G>A", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 51912536, "grch37Position": 52306320, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-61plus1g-a" }, { "slug": "c-525plus1g-a", "name": "c.525+1G>A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51913771, "grch37Position": 52307555, "part": { "kind": "intron", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-525plus1g-a" }, { "slug": "c-525plus1g-t", "name": "c.525+1G>T", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51913771, "grch37Position": 52307555, "part": { "kind": "intron", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-525plus1g-t" }, { "slug": "c-625plus1g-a", "name": "c.625+1G>A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 51914074, "grch37Position": 52307858, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-625plus1g-a" }, { "slug": "c-626-2a-g", "name": "c.626-2A>G", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51914437, "grch37Position": 52308221, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-626-2a-g" }, { "slug": "c-772plus1g-c", "name": "c.772+1G>C", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51914586, "grch37Position": 52308370, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-772plus1g-c" }, { "slug": "c-772plus5g-a", "name": "c.772+5G>A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 51914590, "grch37Position": 52308374, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-772plus5g-a" }, { "slug": "c-1049-1g-a", "name": "c.1049-1G>A", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 51916035, "grch37Position": 52309819, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-1049-1g-a" }, { "slug": "c-1377plus1g-a", "name": "c.1377+1G>A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51919116, "grch37Position": 52312900, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-1377plus1g-a" }, { "slug": "c-1378-69c-a", "name": "c.1378-69C>A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 51920690, "grch37Position": 52314474, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c-1378-69c-a" }, { "slug": "c51s", "name": "C51S", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.151T>A", "position": 51913188, "grch37Position": 52306972, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c51s" }, { "slug": "c51y", "name": "C51Y", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.152G>A", "position": 51913189, "grch37Position": 52306973, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c51y" }, { "slug": "c69f", "name": "C69F", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.206G>T", "position": 51913243, "grch37Position": 52307027, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c69f" }, { "slug": "c69r", "name": "C69R", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.205T>C", "position": 51913242, "grch37Position": 52307026, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c69r" }, { "slug": "c90x", "name": "C90X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.270C>A", "position": 51913307, "grch37Position": 52307091, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c90x" }, { "slug": "c182x", "name": "C182X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.546C>A", "position": 51913994, "grch37Position": 52307778, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c182x" }, { "slug": "c308x", "name": "C308X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.924C>A", "position": 51915376, "grch37Position": 52309160, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c308x" }, { "slug": "c344y", "name": "C344Y", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1031G>A", "position": 51915483, "grch37Position": 52309267, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c344y" }, { "slug": "c471x", "name": "C471X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1413C>A", "position": 51920794, "grch37Position": 52314578, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/c471x" }, { "slug": "e159x", "name": "E159X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.475G>T", "position": 51913720, "grch37Position": 52307504, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/e159x" }, { "slug": "e379k", "name": "E379K", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1135G>A", "position": 51916122, "grch37Position": 52309906, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/e379k" }, { "slug": "e391x", "name": "E391X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1171G>T", "position": 51916158, "grch37Position": 52309942, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/e391x" }, { "slug": "e407d", "name": "E407D", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1221G>T", "position": 51916208, "grch37Position": 52309992, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/e407d" }, { "slug": "g136sfs28", "name": "G136Sfs*28", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.406_409del", "position": 51913648, "grch37Position": 52307432, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/g136sfs28" }, { "slug": "g211d", "name": "G211D", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.632G>A", "position": 51914445, "grch37Position": 52308229, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/g211d" }, { "slug": "g350r", "name": "G350R", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1048G>C", "position": 51915500, "grch37Position": 52309284, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/g350r" }, { "slug": "g416s", "name": "G416S", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1246G>A", "position": 51916233, "grch37Position": 52310017, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/g416s" }, { "slug": "h87tfs35", "name": "H87Tfs*35", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.259del", "position": 51913294, "grch37Position": 52307078, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/h87tfs35" }, { "slug": "i346-a347delinst", "name": "I346_A347delinsT", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1037_1039del", "position": 51915488, "grch37Position": 52309272, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/i346-a347delinst" }, { "slug": "i346rfs44", "name": "I346Rfs*44", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1036_1040del", "position": 51915485, "grch37Position": 52309269, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/i346rfs44" }, { "slug": "k25sfs10", "name": "K25Sfs*10", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.72_79del", "position": 51913106, "grch37Position": 52306890, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/k25sfs10" }, { "slug": "l138gfs30", "name": "L138Gfs*30", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.412_413del", "position": 51913656, "grch37Position": 52307440, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/l138gfs30" }, { "slug": "l273p", "name": "L273P", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.818T>C", "position": 51915270, "grch37Position": 52309054, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/l273p" }, { "slug": "l285f", "name": "L285F", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.853C>T", "position": 51915305, "grch37Position": 52309089, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/l285f" }, { "slug": "l489p", "name": "L489P", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1466T>C", "position": 51920847, "grch37Position": 52314631, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/l489p" }, { "slug": "m438t", "name": "M438T", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1313T>C", "position": 51919051, "grch37Position": 52312835, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/m438t" }, { "slug": "n96d", "name": "N96D", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.286A>G", "position": 51913323, "grch37Position": 52307107, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/n96d" }, { "slug": "p23lfs2", "name": "P23Lfs*2", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.68del", "position": 51913102, "grch37Position": 52306886, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/p23lfs2" }, { "slug": "p378s", "name": "P378S", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1132C>T", "position": 51916119, "grch37Position": 52309903, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/p378s" }, { "slug": "p449l", "name": "P449L", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1346C>T", "position": 51919084, "grch37Position": 52312868, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/p449l" }, { "slug": "p452l", "name": "P452L", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1355C>T", "position": 51919093, "grch37Position": 52312877, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/p452l" }, { "slug": "p476r", "name": "P476R", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1427C>G", "position": 51920808, "grch37Position": 52314592, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/p476r" }, { "slug": "q169x", "name": "Q169X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.505C>T", "position": 51913750, "grch37Position": 52307534, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q169x" }, { "slug": "q201x", "name": "Q201X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.601C>T", "position": 51914049, "grch37Position": 52307833, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q201x" }, { "slug": "q321x", "name": "Q321X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.961C>T", "position": 51915413, "grch37Position": 52309197, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q321x" }, { "slug": "q357x", "name": "Q357X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1069C>T", "position": 51916056, "grch37Position": 52309840, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q357x" }, { "slug": "q384x", "name": "Q384X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1150C>T", "position": 51916137, "grch37Position": 52309921, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/q384x" }, { "slug": "r47p", "name": "R47P", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.140G>C", "position": 51913177, "grch37Position": 52306961, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r47p" }, { "slug": "r47pfs8", "name": "R47Pfs*8", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.139_140insCG", "position": 51913176, "grch37Position": 52306960, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r47pfs8" }, { "slug": "r61sfs61", "name": "R61Sfs*61", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.183del", "position": 51913218, "grch37Position": 52307002, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r61sfs61" }, { "slug": "r67q", "name": "R67Q", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.200G>A", "position": 51913237, "grch37Position": 52307021, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r67q" }, { "slug": "r67w", "name": "R67W", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.199C>T", "position": 51913236, "grch37Position": 52307020, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r67w" }, { "slug": "r144x", "name": "R144X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.430C>T", "position": 51913675, "grch37Position": 52307459, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r144x" }, { "slug": "r291tfs100", "name": "R291Tfs*100", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.872_873del", "position": 51915320, "grch37Position": 52309104, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r291tfs100" }, { "slug": "r374q", "name": "R374Q", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1121G>A", "position": 51916108, "grch37Position": 52309892, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r374q" }, { "slug": "r374w", "name": "R374W", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1120C>T", "position": 51916107, "grch37Position": 52309891, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r374w" }, { "slug": "r411w", "name": "R411W", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1231C>T", "position": 51916218, "grch37Position": 52310002, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r411w" }, { "slug": "r479q", "name": "R479Q", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1436G>A", "position": 51920817, "grch37Position": 52314601, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r479q" }, { "slug": "r479x", "name": "R479X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1435C>T", "position": 51920816, "grch37Position": 52314600, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r479x" }, { "slug": "r484q", "name": "R484Q", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1451G>A", "position": 51920832, "grch37Position": 52314616, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r484q" }, { "slug": "r484w", "name": "R484W", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1450C>T", "position": 51920831, "grch37Position": 52314615, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/r484w" }, { "slug": "s225cfs11", "name": "S225Cfs*11", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.673_674del", "position": 51914482, "grch37Position": 52308266, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s225cfs11" }, { "slug": "s233del", "name": "S233del", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.696_698del", "position": 51914505, "grch37Position": 52308289, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s233del" }, { "slug": "s233l", "name": "S233L", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.698C>T", "position": 51914511, "grch37Position": 52308295, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s233l" }, { "slug": "s305f", "name": "S305F", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.914C>T", "position": 51915366, "grch37Position": 52309150, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/s305f" }, { "slug": "t197i", "name": "T197I", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.590C>T", "position": 51914038, "grch37Position": 52307822, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/acvrl1/variants/t197i" }, { "slug": "t248sfs143", "name": "T248Sfs*143", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.743_744del", "position": 51914552, "grch37Position": 52308336, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/t248sfs143" }, { "slug": "t277k", "name": "T277K", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.830C>A", "position": 51915282, "grch37Position": 52309066, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/t277k" }, { "slug": "t277r", "name": "T277R", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.830C>G", "position": 51915282, "grch37Position": 52309066, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/t277r" }, { "slug": "t372i", "name": "T372I", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1115C>T", "position": 51916102, "grch37Position": 52309886, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/t372i" }, { "slug": "v442a", "name": "V442A", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1325T>C", "position": 51919063, "grch37Position": 52312847, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/acvrl1/variants/v442a" }, { "slug": "w50r", "name": "W50R", "commonName": null, "symbol": "ACVRL1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.148T>C", "position": 51913185, "grch37Position": 52306969, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/acvrl1/variants/w50r" }, { "slug": "w217x", "name": "W217X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.651G>A", "position": 51914464, "grch37Position": 52308248, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/acvrl1/variants/w217x" }, { "slug": "w274x", "name": "W274X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.822G>A", "position": 51915274, "grch37Position": 52309058, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/acvrl1/variants/w274x" }, { "slug": "w472x", "name": "W472X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1415G>A", "position": 51920796, "grch37Position": 52314580, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/acvrl1/variants/w472x" }, { "slug": "y375x", "name": "Y375X", "commonName": null, "symbol": "ACVRL1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1121_1124dup", "position": 51916107, "grch37Position": 52309891, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/acvrl1/variants/y375x" } ] } }