{ "url": "https://dantelabs.com/fi/genes/tsc1", "gene": { "slug": "tsc1", "symbol": "TSC1", "name": "TSC complex subunit 1", "hgnc": "HGNC:12362", "summary": null, "location": "9q34.13", "locusType": "gene with protein product", "aliases": [ "KIAA0243", "LAM", "hamartin" ], "previousSymbols": [ "TSC" ], "ensemblId": "ENSG00000165699", "entrezId": 7248, "omim": [ "605284" ], "uniprot": [ "Q92574" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 132891349, "end": 132944616, "strand": "-", "ensemblTranscript": "ENST00000298552.9", "refseqTranscript": "NM_000368.5", "ensemblProtein": "ENSP00000298552.3", "refseqProtein": "NP_000359.1", "exons": [ { "start": 132891349, "end": 132896754 }, { "start": 132897184, "end": 132897345 }, { "start": 132897423, "end": 132897610 }, { "start": 132900715, "end": 132900837 }, { "start": 132901589, "end": 132901699 }, { "start": 132902605, "end": 132902787 }, { "start": 132903651, "end": 132903817 }, { "start": 132904411, "end": 132904454 }, { "start": 132905581, "end": 132906139 }, { "start": 132906731, "end": 132906835 }, { "start": 132907301, "end": 132907370 }, { "start": 132910571, "end": 132910692 }, { "start": 132911002, "end": 132911113 }, { "start": 132911453, "end": 132911568 }, { "start": 132912282, "end": 132912457 }, { "start": 132921363, "end": 132921436 }, { "start": 132921819, "end": 132921973 }, { "start": 132923348, "end": 132923492 }, { "start": 132925587, "end": 132925739 }, { "start": 132927201, "end": 132927304 }, { "start": 132928767, "end": 132928952 }, { "start": 132935033, "end": 132935095 }, { "start": 132944543, "end": 132944616 } ], "cds": { "start": 132896235, "end": 132928872 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 135766735, "end": 135820020, "strand": "-" }, "neighbourhood": { "release": "116", "start": 132417983, "end": 133417982, "genes": [ { "symbol": "CFAP77", "ensemblId": "ENSG00000188523", "biotype": "protein_coding", "start": 132410043, "end": 132573319, "strand": "+", "slug": "cfap77" }, { "symbol": "DDX31", "ensemblId": "ENSG00000125485", "biotype": "protein_coding", "start": 132536999, "end": 132670401, "strand": "-", "slug": "ddx31" }, { "symbol": "BARHL1", "ensemblId": "ENSG00000125492", "biotype": "protein_coding", "start": 132582071, "end": 132591651, "strand": "+", "slug": "barhl1" }, { "symbol": "GTF3C4", "ensemblId": "ENSG00000125484", "biotype": "protein_coding", "start": 132670023, "end": 132694953, "strand": "+", "slug": "gtf3c4" }, { "symbol": "AK8", "ensemblId": "ENSG00000165695", "biotype": "protein_coding", "start": 132725573, "end": 132878777, "strand": "-", "slug": "ak8" }, { "symbol": "SPACA9", "ensemblId": "ENSG00000165698", "biotype": "protein_coding", "start": 132878027, "end": 132890316, "strand": "+", "slug": "spaca9" }, { "symbol": "GFI1B", "ensemblId": "ENSG00000165702", "biotype": "protein_coding", "start": 132944000, "end": 132991687, "strand": "+", "slug": "gfi1b" }, { "symbol": "GTF3C5", "ensemblId": "ENSG00000148308", "biotype": "protein_coding", "start": 133030675, "end": 133058503, "strand": "+", "slug": "gtf3c5" }, { "symbol": "CEL", "ensemblId": "ENSG00000170835", "biotype": "protein_coding", "start": 133061981, "end": 133071861, "strand": "+", "slug": "cel" }, { "symbol": "RALGDS", "ensemblId": "ENSG00000160271", "biotype": "protein_coding", "start": 133097657, "end": 133149440, "strand": "-", "slug": "ralgds" }, { "symbol": "", "ensemblId": "ENSG00000285245", "biotype": "protein_coding", "start": 133098121, "end": 133163914, "strand": "-" }, { "symbol": "GBGT1", "ensemblId": "ENSG00000148288", "biotype": "protein_coding", "start": 133151020, "end": 133164245, "strand": "-", "slug": "gbgt1" }, { "symbol": "OBP2B", "ensemblId": "ENSG00000171102", "biotype": "protein_coding", "start": 133205277, "end": 133209309, "strand": "-", "slug": "obp2b" }, { "symbol": "ABO", "ensemblId": "ENSG00000175164", "biotype": "protein_coding", "start": 133233278, "end": 133276024, "strand": "-", "slug": "abo" }, { "symbol": "SURF6", "ensemblId": "ENSG00000148296", "biotype": "protein_coding", "start": 133328684, "end": 133336289, "strand": "-", "slug": "surf6" }, { "symbol": "MED22", "ensemblId": "ENSG00000148297", "biotype": "protein_coding", "start": 133338312, "end": 133348140, "strand": "-", "slug": "med22" }, { "symbol": "RPL7A", "ensemblId": "ENSG00000148303", "biotype": "protein_coding", "start": 133347950, "end": 133351435, "strand": "+", "slug": "rpl7a" }, { "symbol": "SURF1", "ensemblId": "ENSG00000148290", "biotype": "protein_coding", "start": 133351069, "end": 133356676, "strand": "-", "slug": "surf1" }, { "symbol": "SURF2", "ensemblId": "ENSG00000148291", "biotype": "protein_coding", "start": 133356520, "end": 133362917, "strand": "+", "slug": "surf2" }, { "symbol": "SURF4", "ensemblId": "ENSG00000148248", "biotype": "protein_coding", "start": 133361450, "end": 133376233, "strand": "-", "slug": "surf4" }, { "symbol": "STKLD1", "ensemblId": "ENSG00000198870", "biotype": "protein_coding", "start": 133376332, "end": 133406096, "strand": "+", "slug": "stkld1" }, { "symbol": "REXO4", "ensemblId": "ENSG00000148300", "biotype": "protein_coding", "start": 133406026, "end": 133418096, "strand": "-", "slug": "rexo4" }, { "symbol": "ADAMTS13", "ensemblId": "ENSG00000160323", "biotype": "protein_coding", "start": 133414358, "end": 133459402, "strand": "+", "slug": "adamts13" } ], "truncated": false }, "reports": [ { "slug": "tuberous-sclerosis", "name": "Tuberoosiskleroosi", "diseases": [ { "mondoId": "MONDO:0001734", "name": "Tuberoosiskleroosi", "genes": 2, "inheritance": "autosomal-dominant", "description": "Perinnöllinen sairaus, jolle ovat tyypillisiä kohtauksille alttius, kehitysviive, älyllinen kehitysvamma sekä iho- ja silmämuutokset. Ensioireet ilmenevät yleensä imeväisiässä tai lapsuudessa, mutta harvinaisissa tapauksissa ne voivat alkaa vasta toisella tai kolmannella elinvuosikymmenellä.", "management": "mTOR-estäjät, epilepsialääkkeet, seurantakuvantaminen, komplikaatioiden kirurginen hoito", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/tuberous-sclerosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "slug": "abnormal-morphology-of-female-internal-genitalia", "name": "Abnormal morphology of female internal genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "abnormal-social-behavior", "name": "Abnormal social behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-social-behavior" }, { "slug": "abnormal-urinary-color", "name": "Abnormal urinary color", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-urinary-color" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "abnormality-of-the-lymphatic-system", "name": "Abnormality of the lymphatic system", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-lymphatic-system" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "achromatic-retinal-patches", "name": "Achromatic retinal patches", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/achromatic-retinal-patches" }, { "slug": "adenoma-sebaceum", "name": "Adenoma sebaceum", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument", "neoplasm" ], "url": "https://dantelabs.com/traits/adenoma-sebaceum" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "angiofibromas", "name": "Angiofibromas", "systems": [ "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/angiofibromas" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "astrocytoma", "name": "Astrocytoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/astrocytoma" }, { "slug": "astrocytosis", "name": "Astrocytosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/astrocytosis" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autism" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "renal-cell-carcinoma", "name": "Cancer starting in small tubes in kidneys", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-cell-carcinoma" }, { "slug": "carcinoid-tumor", "name": "Carcinoid tumor", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/carcinoid-tumor" }, { "slug": "cardiac-rhabdomyoma", "name": "Cardiac rhabdomyoma", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiac-rhabdomyoma" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "chordoma", "name": "Chordoma", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "url": "https://dantelabs.com/traits/chordoma" }, { "slug": "chorioretinal-hypopigmentation", "name": "Chorioretinal hypopigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorioretinal-hypopigmentation" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "chylopericardium", "name": "Chylopericardium", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chylopericardium" }, { "slug": "chylothorax", "name": "Chylothorax", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chylothorax" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "pneumothorax", "name": "Collapsed lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pneumothorax" }, { "slug": "confetti-like-hypopigmented-macules", "name": "Confetti-like hypopigmented macules", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/confetti-like-hypopigmented-macules" }, { "slug": "cortical-dysplasia", "name": "Cortical dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cortical-dysplasia" }, { "slug": "cortical-tubers", "name": "Cortical tubers", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cortical-tubers" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "dental-enamel-pits", "name": "Dental enamel pits", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/dental-enamel-pits" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "emphysema", "name": "Emphysema", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emphysema" }, { "slug": "parathyroid-hyperplasia", "name": "Enlarged parathyroid glands", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/parathyroid-hyperplasia" }, { "slug": "ependymoma", "name": "Ependymoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/ependymoma" }, { "slug": "epidermoid-cyst", "name": "Epidermoid cyst", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epidermoid-cyst" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "macule", "name": "Flat, discolored area of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macule" }, { "slug": "focal-cortical-dysplasia-type-ii", "name": "Focal cortical dysplasia type II", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-cortical-dysplasia-type-ii" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "focal-white-matter-lesions", "name": "Focal white matter lesions", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-white-matter-lesions" }, { "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": "generalized-abnormality-of-skin", "name": "Generalized abnormality of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin" }, { "slug": "gingival-fibromatosis", "name": "Gingival fibromatosis", "systems": [ "abnormality-of-head-or-neck", "neoplasm" ], "url": "https://dantelabs.com/traits/gingival-fibromatosis" }, { "slug": "preauricular-hair-displacement", "name": "Hair growing down to cheek", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/preauricular-hair-displacement" }, { "slug": "hemimegalencephaly", "name": "Hemimegalencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hemimegalencephaly" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hypomelanotic-macule", "name": "Hypomelanotic macule", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypomelanotic-macule" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "internal-hemorrhage", "name": "Internal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/internal-hemorrhage" }, { "slug": "renal-neoplasm", "name": "Kidney cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-neoplasm" }, { "slug": "hepatic-cysts", "name": "Liver cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-cysts" }, { "slug": "pulmonary-infiltrates", "name": "Lung infiltrates", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pulmonary-infiltrates" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "multiple-renal-cysts", "name": "Multiple kidney cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-renal-cysts" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "pituitary-adenoma", "name": "Noncancerous tumor in pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pituitary-adenoma" }, { "slug": "noncommunicating-hydrocephalus", "name": "Noncommunicating hydrocephalus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/noncommunicating-hydrocephalus" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-nerve-glioma", "name": "Optic nerve glioma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/optic-nerve-glioma" }, { "slug": "pancreatic-endocrine-tumor", "name": "Pancreatic endocrine tumor", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pancreatic-endocrine-tumor" }, { "slug": "parathyroid-adenoma", "name": "Parathyroid adenoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/parathyroid-adenoma" }, { "slug": "atelectasis", "name": "Partial or complete collapse of part or entire lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atelectasis" }, { "slug": "pheochromocytoma", "name": "Pheochromocytoma", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pheochromocytoma" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "premature-chromatid-separation", "name": "Premature chromatid separation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/premature-chromatid-separation" }, { "slug": "pulmonary-lymphangiomyomatosis", "name": "Pulmonary lymphangiomyomatosis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-lymphangiomyomatosis" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "renal-angiomyolipoma", "name": "Renal angiomyolipoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-angiomyolipoma" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "repetitive-compulsive-behavior", "name": "Repetitive compulsive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/repetitive-compulsive-behavior" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "retinal-astrocytic-hamartoma", "name": "Retinal astrocytic hamartoma", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/retinal-astrocytic-hamartoma" }, { "slug": "retinal-hamartoma", "name": "Retinal hamartoma", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-hamartoma" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "self-injurious-behavior", "name": "Self-injurious behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/self-injurious-behavior" }, { "slug": "shagreen-patch", "name": "Shagreen patch", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shagreen-patch" }, { "slug": "skin-plaque", "name": "Skin plaque", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-plaque" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "subependymal-giant-cell-astrocytoma", "name": "Subependymal giant-cell astrocytoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subependymal-giant-cell-astrocytoma" }, { "slug": "subependymal-nodules", "name": "Subependymal nodules", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/subependymal-nodules" }, { "slug": "subungual-fibromas", "name": "Subungual fibromas", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "url": "https://dantelabs.com/traits/subungual-fibromas" }, { "slug": "lymphedema", "name": "Swelling caused by excess lymph fluid under skin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphedema" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "ungual-fibroma", "name": "Ungual fibroma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ungual-fibroma" }, { "slug": "hemiparesis", "name": "Weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hemiparesis" }, { "slug": "wolff-parkinson-white-syndrome", "name": "Wolff-Parkinson-White syndrome", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome" } ], "related": [ { "slug": "tsc2", "symbol": "TSC2", "name": "TSC complex subunit 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/tsc2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 115, "url": "https://dantelabs.com/genes/tsc1/variants", "items": [ { "slug": "a283pfs35", "name": "A283Pfs*35", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.846del", "position": 132912348, "grch37Position": 135787735, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/tsc1/variants/a283pfs35" }, { "slug": "c-107-1g-a", "name": "c.107-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132927305, "grch37Position": 135802692, "part": { "kind": "intron", "number": 3 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-107-1g-a" }, { "slug": "c-211-1g-a", "name": "c.211-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132925740, "grch37Position": 135801127, "part": { "kind": "intron", "number": 4 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-211-1g-a" }, { "slug": "c-211-2a-c", "name": "c.211-2A>C", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132925741, "grch37Position": 135801128, "part": { "kind": "intron", "number": 4 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-211-2a-c" }, { "slug": "c-363plus1g-t", "name": "c.363+1G>T", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132925586, "grch37Position": 135800973, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-363plus1g-t" }, { "slug": "c-363plus668g-t", "name": "c.363+668G>T", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132924919, "grch37Position": 135800306, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-363plus668g-t" }, { "slug": "c-364-2a-g", "name": "c.364-2A>G", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132923494, "grch37Position": 135798881, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-364-2a-g" }, { "slug": "c-508plus2t-c", "name": "c.508+2T>C", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132923346, "grch37Position": 135798733, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-508plus2t-c" }, { "slug": "c-509-1g-a", "name": "c.509-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132921974, "grch37Position": 135797361, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-509-1g-a" }, { "slug": "c-663plus1g-a", "name": "c.663+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132921818, "grch37Position": 135797205, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-663plus1g-a" }, { "slug": "c-664-1g-a", "name": "c.664-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132921437, "grch37Position": 135796824, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-664-1g-a" }, { "slug": "c-664-15a-g", "name": "c.664-15A>G", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132921451, "grch37Position": 135796838, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-664-15a-g" }, { "slug": "c-737plus1g-a", "name": "c.737+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132921362, "grch37Position": 135796749, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-737plus1g-a" }, { "slug": "c-737plus3a-g", "name": "c.737+3A>G", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132921360, "grch37Position": 135796747, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-737plus3a-g" }, { "slug": "c-738-1g-c", "name": "c.738-1G>C", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132912458, "grch37Position": 135787845, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-738-1g-c" }, { "slug": "c-738-2a-g", "name": "c.738-2A>G", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132912459, "grch37Position": 135787846, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-738-2a-g" }, { "slug": "c-738-2a-t", "name": "c.738-2A>T", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132912459, "grch37Position": 135787846, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-738-2a-t" }, { "slug": "c-913plus1g-a", "name": "c.913+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132912281, "grch37Position": 135787668, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-913plus1g-a" }, { "slug": "c-1029plus1g-a", "name": "c.1029+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132911452, "grch37Position": 135786839, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-1029plus1g-a" }, { "slug": "c-1029plus1g-c", "name": "c.1029+1G>C", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132911452, "grch37Position": 135786839, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-1029plus1g-c" }, { "slug": "c-1439-1g-a", "name": "c.1439-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132906140, "grch37Position": 135781527, "part": { "kind": "intron", "number": 14 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-1439-1g-a" }, { "slug": "c-1997plus1g-a", "name": "c.1997+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132905580, "grch37Position": 135780967, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-1997plus1g-a" }, { "slug": "c-1997plus1g-t", "name": "c.1997+1G>T", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132905580, "grch37Position": 135780967, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-1997plus1g-t" }, { "slug": "c-2027g-a", "name": "c.2027G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132904425, "grch37Position": 135779812, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2027g-a" }, { "slug": "c-2041plus1g-a", "name": "c.2041+1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132904410, "grch37Position": 135779797, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2041plus1g-a" }, { "slug": "c-2208plus2t-a", "name": "c.2208+2T>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132903649, "grch37Position": 135779036, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2208plus2t-a" }, { "slug": "c-2503-1g-c", "name": "c.2503-1G>C", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132900838, "grch37Position": 135776225, "part": { "kind": "intron", "number": 19 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2503-1g-c" }, { "slug": "c-2625plus367a-g", "name": "c.2625+367A>G", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 132900348, "grch37Position": 135775735, "part": { "kind": "intron", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2625plus367a-g" }, { "slug": "c-2626-1g-a", "name": "c.2626-1G>A", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 132897611, "grch37Position": 135772998, "part": { "kind": "intron", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/c-2626-1g-a" }, { "slug": "d471vfs61", "name": "D471Vfs*61", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1412del", "position": 132906756, "grch37Position": 135782143, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/tsc1/variants/d471vfs61" }, { "slug": "e78x", "name": "E78X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.232G>T", "position": 132925718, "grch37Position": 135801105, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/e78x" }, { "slug": "e478kfs53", "name": "E478Kfs*53", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1431_1434del", "position": 132906734, "grch37Position": 135782121, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/tsc1/variants/e478kfs53" }, { "slug": "e636gfs51", "name": "E636Gfs*51", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1907_1908del", "position": 132905669, "grch37Position": 135781056, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/e636gfs51" }, { "slug": "e663x", "name": "E663X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1987G>T", "position": 132905591, "grch37Position": 135780978, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/e663x" }, { "slug": "e731x", "name": "E731X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2191G>T", "position": 132903668, "grch37Position": 135779055, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/tsc1/variants/e731x" }, { "slug": "e839rfs9", "name": "E839Rfs*9", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2515_2518del", "position": 132900821, "grch37Position": 135776208, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/e839rfs9" }, { "slug": "e864x", "name": "E864X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2590G>T", "position": 132900750, "grch37Position": 135776137, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/e864x" }, { "slug": "e876x", "name": "E876X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2626G>T", "position": 132897610, "grch37Position": 135772997, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/e876x" }, { "slug": "f216lfs8", "name": "F216Lfs*8", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.648del", "position": 132921833, "grch37Position": 135797220, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/f216lfs8" }, { "slug": "f216s", "name": "F216S", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.647T>C", "position": 132921835, "grch37Position": 135797222, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/f216s" }, { "slug": "f216x", "name": "F216X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.647_648del", "position": 132921833, "grch37Position": 135797220, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/f216x" }, { "slug": "g443ifs15", "name": "G443Ifs*15", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1326_1327del", "position": 132907306, "grch37Position": 135782693, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/tsc1/variants/g443ifs15" }, { "slug": "k630qfs22", "name": "K630Qfs*22", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1888_1891del", "position": 132905686, "grch37Position": 135781073, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/k630qfs22" }, { "slug": "l136vfs14", "name": "L136Vfs*14", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.406_418delinsGT", "position": 132923438, "grch37Position": 135798825, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/tsc1/variants/l136vfs14" }, { "slug": "l330qfs10", "name": "L330Qfs*10", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.989_990del", "position": 132911491, "grch37Position": 135786878, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/l330qfs10" }, { "slug": "n716tfs8", "name": "N716Tfs*8", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2145del", "position": 132903713, "grch37Position": 135779100, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/tsc1/variants/n716tfs8" }, { "slug": "n837kfs3", "name": "N837Kfs*3", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2510dup", "position": 132900829, "grch37Position": 135776216, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/n837kfs3" }, { "slug": "n837vfs11", "name": "N837Vfs*11", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2509_2512del", "position": 132900827, "grch37Position": 135776214, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/n837vfs11" }, { "slug": "n891kfs13", "name": "N891Kfs*13", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2672dup", "position": 132897563, "grch37Position": 135772950, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/n891kfs13" }, { "slug": "n891tfs40", "name": "N891Tfs*40", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2672del", "position": 132897563, "grch37Position": 135772950, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/n891tfs40" }, { "slug": "p244lfs7", "name": "P244Lfs*7", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.731del", "position": 132921368, "grch37Position": 135796755, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/p244lfs7" }, { "slug": "p566lfs63", "name": "P566Lfs*63", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1697del", "position": 132905880, "grch37Position": 135781267, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/p566lfs63" }, { "slug": "q55x", "name": "Q55X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.163C>T", "position": 132927248, "grch37Position": 135802635, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/tsc1/variants/q55x" }, { "slug": "q109x", "name": "Q109X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.325C>T", "position": 132925625, "grch37Position": 135801012, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/q109x" }, { "slug": "q149x", "name": "Q149X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.445C>T", "position": 132923411, "grch37Position": 135798798, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/tsc1/variants/q149x" }, { "slug": "q301efs2", "name": "Q301Efs*2", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.901_902del", "position": 132912292, "grch37Position": 135787679, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/tsc1/variants/q301efs2" }, { "slug": "q301x", "name": "Q301X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.901C>T", "position": 132912294, "grch37Position": 135787681, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/tsc1/variants/q301x" }, { "slug": "q325x", "name": "Q325X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.973C>T", "position": 132911509, "grch37Position": 135786896, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/q325x" }, { "slug": "q328x", "name": "Q328X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.982C>T", "position": 132911500, "grch37Position": 135786887, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/q328x" }, { "slug": "q343x", "name": "Q343X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1027C>T", "position": 132911455, "grch37Position": 135786842, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/q343x" }, { "slug": "q413rfs27", "name": "Q413Rfs*27", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1237del", "position": 132910596, "grch37Position": 135785983, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/tsc1/variants/q413rfs27" }, { "slug": "q527rfs7", "name": "Q527Rfs*7", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1580_1581del", "position": 132905996, "grch37Position": 135781383, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/q527rfs7" }, { "slug": "q527x", "name": "Q527X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1579C>T", "position": 132905999, "grch37Position": 135781386, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/q527x" }, { "slug": "q654tfs34", "name": "Q654Tfs*34", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1959dup", "position": 132905618, "grch37Position": 135781005, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/q654tfs34" }, { "slug": "q654x", "name": "Q654X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1960C>T", "position": 132905618, "grch37Position": 135781005, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/q654x" }, { "slug": "q739x", "name": "Q739X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2215C>T", "position": 132902781, "grch37Position": 135778168, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q739x" }, { "slug": "q743x", "name": "Q743X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2227C>T", "position": 132902769, "grch37Position": 135778156, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q743x" }, { "slug": "q748x", "name": "Q748X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2242C>T", "position": 132902754, "grch37Position": 135778141, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q748x" }, { "slug": "q758x", "name": "Q758X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2272C>T", "position": 132902724, "grch37Position": 135778111, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q758x" }, { "slug": "q765x", "name": "Q765X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2293C>T", "position": 132902703, "grch37Position": 135778090, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q765x" }, { "slug": "q781x", "name": "Q781X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2341C>T", "position": 132902655, "grch37Position": 135778042, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q781x" }, { "slug": "q783x", "name": "Q783X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2347C>T", "position": 132902649, "grch37Position": 135778036, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q783x" }, { "slug": "q794x", "name": "Q794X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2380C>T", "position": 132902616, "grch37Position": 135778003, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q794x" }, { "slug": "q797x", "name": "Q797X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2389C>T", "position": 132902607, "grch37Position": 135777994, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/q797x" }, { "slug": "q830x", "name": "Q830X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2488C>T", "position": 132901603, "grch37Position": 135776990, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/tsc1/variants/q830x" }, { "slug": "q842x", "name": "Q842X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2524C>T", "position": 132900816, "grch37Position": 135776203, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/q842x" }, { "slug": "q843x", "name": "Q843X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2527C>T", "position": 132900813, "grch37Position": 135776200, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/q843x" }, { "slug": "q844x", "name": "Q844X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2530C>T", "position": 132900810, "grch37Position": 135776197, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/q844x" }, { "slug": "q897x", "name": "Q897X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2689C>T", "position": 132897547, "grch37Position": 135772934, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/q897x" }, { "slug": "q898x", "name": "Q898X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2692C>T", "position": 132897544, "grch37Position": 135772931, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/q898x" }, { "slug": "q906x", "name": "Q906X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2716C>T", "position": 132897520, "grch37Position": 135772907, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/q906x" }, { "slug": "q926x", "name": "Q926X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2776C>T", "position": 132897460, "grch37Position": 135772847, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/q926x" }, { "slug": "q936x", "name": "Q936X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2806C>T", "position": 132897430, "grch37Position": 135772817, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/q936x" }, { "slug": "q940x", "name": "Q940X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2818C>T", "position": 132897341, "grch37Position": 135772728, "part": { "kind": "exon", "number": 22 }, "url": "https://dantelabs.com/genes/tsc1/variants/q940x" }, { "slug": "q942x", "name": "Q942X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2824C>T", "position": 132897335, "grch37Position": 135772722, "part": { "kind": "exon", "number": 22 }, "url": "https://dantelabs.com/genes/tsc1/variants/q942x" }, { "slug": "r228x", "name": "R228X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.682C>T", "position": 132921418, "grch37Position": 135796805, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/r228x" }, { "slug": "r245x", "name": "R245X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.733C>T", "position": 132921367, "grch37Position": 135796754, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/r245x" }, { "slug": "r246k", "name": "R246K", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.737G>A", "position": 132921363, "grch37Position": 135796750, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/tsc1/variants/r246k" }, { "slug": "r336tfs5", "name": "R336Tfs*5", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1005dup", "position": 132911476, "grch37Position": 135786863, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/r336tfs5" }, { "slug": "r420gfs20", "name": "R420Gfs*20", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1257del", "position": 132910576, "grch37Position": 135785963, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/tsc1/variants/r420gfs20" }, { "slug": "r424nfs17", "name": "R424Nfs*17", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1271_1272del", "position": 132907361, "grch37Position": 135782748, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/tsc1/variants/r424nfs17" }, { "slug": "r429qfs8", "name": "R429Qfs*8", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1285_1298del", "position": 132907335, "grch37Position": 135782722, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/tsc1/variants/r429qfs8" }, { "slug": "r500x", "name": "R500X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1498C>T", "position": 132906080, "grch37Position": 135781467, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/r500x" }, { "slug": "r509x", "name": "R509X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1525C>T", "position": 132906053, "grch37Position": 135781440, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/r509x" }, { "slug": "r570gfs17", "name": "R570Gfs*17", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1708_1709del", "position": 132905868, "grch37Position": 135781255, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/r570gfs17" }, { "slug": "r692x", "name": "R692X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2074C>T", "position": 132903785, "grch37Position": 135779172, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/tsc1/variants/r692x" }, { "slug": "r786x", "name": "R786X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2356C>T", "position": 132902640, "grch37Position": 135778027, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/tsc1/variants/r786x" }, { "slug": "r892kfs11", "name": "R892Kfs*11", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2675_2676del", "position": 132897559, "grch37Position": 135772946, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/tsc1/variants/r892kfs11" }, { "slug": "s88ifs19", "name": "S88Ifs*19", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.261dup", "position": 132925688, "grch37Position": 135801075, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/s88ifs19" }, { "slug": "s91vfs15", "name": "S91Vfs*15", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.271_272del", "position": 132925677, "grch37Position": 135801064, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/tsc1/variants/s91vfs15" }, { "slug": "s289x", "name": "S289X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.866C>G", "position": 132912329, "grch37Position": 135787716, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/tsc1/variants/s289x" }, { "slug": "s331efs10", "name": "S331Efs*10", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.989dup", "position": 132911492, "grch37Position": 135786879, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/tsc1/variants/s331efs10" }, { "slug": "s561rfs19", "name": "S561Rfs*19", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1680_1702del", "position": 132905875, "grch37Position": 135781262, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/s561rfs19" }, { "slug": "s575afs57", "name": "S575Afs*57", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1715_1722dup", "position": 132905855, "grch37Position": 135781242, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/s575afs57" }, { "slug": "s644pfs9", "name": "S644Pfs*9", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1929del", "position": 132905648, "grch37Position": 135781035, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/s644pfs9" }, { "slug": "s836x", "name": "S836X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2507C>G", "position": 132900833, "grch37Position": 135776220, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/s836x" }, { "slug": "s840x", "name": "S840X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2519C>A", "position": 132900821, "grch37Position": 135776208, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/tsc1/variants/s840x" }, { "slug": "t635rfs52", "name": "T635Rfs*52", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1904_1905del", "position": 132905672, "grch37Position": 135781059, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/tsc1/variants/t635rfs52" }, { "slug": "w164x", "name": "W164X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.492G>A", "position": 132923364, "grch37Position": 135798751, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/tsc1/variants/w164x" }, { "slug": "w347x", "name": "W347X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1041G>A", "position": 132911102, "grch37Position": 135786489, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/tsc1/variants/w347x" }, { "slug": "w676x", "name": "W676X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2028G>A", "position": 132904424, "grch37Position": 135779811, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/tsc1/variants/w676x" }, { "slug": "y48x", "name": "Y48X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.144T>G", "position": 132927267, "grch37Position": 135802654, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/tsc1/variants/y48x" }, { "slug": "y185x", "name": "Y185X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.555C>A", "position": 132921927, "grch37Position": 135797314, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/tsc1/variants/y185x" }, { "slug": "y373x", "name": "Y373X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1119C>G", "position": 132911024, "grch37Position": 135786411, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/tsc1/variants/y373x" }, { "slug": "y704x", "name": "Y704X", "commonName": null, "symbol": "TSC1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2111_2112del", "position": 132903746, "grch37Position": 135779133, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/tsc1/variants/y704x" } ] } }