All individuals with variants in gene TSC2

6574 entries on 66 pages. Showing entries 1 - 100.
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00004519 - unpublished - - - - - - - - - TSC - 1 1 Rosemary Ekong
00004520 - unpublished patient has TSC2 missense c.3095G>C, TSC2 intronic variant c.5161-26_5161-23del and other recurrent variants in TSC1 (c.1335A>G and c.1334-55C>G) and in TSC2 (c.976-63G>A, c.1578C>T, c.1600-14C>T, c.3884-56C>G, c.5202T>C, c.5161-10A>C and c.5397G>C); TSC2 c.3095G>C not seen in parents or sibling - - - - - - - - TSC - 2 4 Rosemary Ekong
00004521 - unpublished familial case; 4 affecteds - 1 has mild phenotype and 3 have several TSC symptoms - - Spain - - - - - TSC - 1 4 Rosemary Ekong
00004522 - unpublished - - - Spain - - - - - TSC renal dysplasia (HP:0000110) 1 1 Rosemary Ekong
00004523 - unpublished sporadic case F ? Spain - - - - - TSC bilateral renal hamartomas (HP:0008696), intraventricular tumour (3 months of life) 1 1 Rosemary Ekong
00004524 - unpublished sporadic case; TS affected patient; no other variant found in patient; both phenotypically unaffected parents reported to have same DNA change ? - Spain - - - - - TSC - 1 1 Rosemary Ekong
00004525 - unpublished clinical diagnosis of TS in patient; intellectual disability in some family members - - Spain - - - - - TSC facial angiofibromas (HP:0009720) 1 1 Rosemary Ekong
00004526 - unpublished - - - - - - - - - TSC - 1 1 Rosemary Ekong
00004527 - unpublished - - - - - - - - - TSC - 1 1 Rosemary Ekong
00038390 - - - F no - - - - - - TSC angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716) 1 1 Sonal Desai
00038391 - - - M no - - - - - - TSC angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);multiple renal cysts (HP:0000107);multiple retinal hamartomas (HP:0009594);nonrenal hamartomas;subependymal nodules (HP:0009716) 1 1 Sonal Desai
00079880 - - - - - Germany - - - - - TSC - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00143221 165 PubMed: Jones 1999 - ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143222 5773 PubMed: European TSC consortium 1993 affected parent also had intragenic deletion ? ? - - - - - - TSC - 1 2 Rosemary Ekong
00143223 WS-80 PubMed: European TSC consortium 1993 parents thought to be unaffected; parental DNA unavailable for testing ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143224 1737 PubMed: European TSC consortium 1993 parents thought to be unaffected; parental DNA unavailable for testing ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143225 WS-11 PubMed: European TSC consortium 1993 deletion not found in parents ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143227 - PubMed: Jones 1997 variant absent in both parents ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143228 - PubMed: Jones 1997 variant absent in both parents ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143229 - PubMed: Jones 1997 2nd patient reported in this paper; variant absent in both parents ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143230 T1218 PubMed: European TSC consortium 1993 - ? ? Netherlands - - - - - TSC - 1 2 Rosemary Ekong
00143231 T3897 PubMed: European TSC consortium 1993 - ? ? Poland - - - - - TSC - 1 1 Rosemary Ekong
00143232 T4793 originally vd Ouweland - ? ? Portugal - - - - - TSC - 1 2 Rosemary Ekong
00143233 T3934 originally vd Ouweland - ? ? Poland - - - - - TSC - 1 1 Rosemary Ekong
00143234 T1207C PubMed: Langkau 2002 - ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143235 - PubMed: Wang 1998 father is affected; father and son have same genomic change M ? Netherlands - - - - - TSC Son has macrocephaly (HP:0000256), hypotonia; Father has facial angiofibroma (HP:0009720), ungual fibroma (HP:0100804), renal angiomyolipoma (HP:0006772), renal cysts (HP:0000107), severe renal problems with hematuria (HP:0000790), hypomelanotic macules (HP:0009719), buccal fibroma (HP:0000169), multiple dental pits (HP:0009722), seizures (HP:0001250), normal intelligence 1 2 Rosemary Ekong
00143236 - PubMed: Rendtorff 2005 - ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143237 - PubMed: Rendtorff 2005 different patient reported in this paper ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143238 - unpublished - M ? - - - - - - TSC - 1 1 Rosemary Ekong
00143239 - unpublished - M ? - - - - - - TSC - 1 1 Rosemary Ekong
00143240 - unpublished - F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143241 - unpublished - M ? - - - - - - TSC - 1 1 Rosemary Ekong
00143242 - unpublished TS affected F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143243 - PubMed: Sancak 2005 diagnosed with definite TSC ? ? - - - - - - TSC - 1 2 Rosemary Ekong
00143244 - unpublished entry represents 2 different cases ? ? - - - - - - TSC - 1 2 Rosemary Ekong
00143245 - PubMed: Tyburczy 2014 childhood onset and adult diagnosis of TSC F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143246 - unpublished patient referred for diagnostic TS testing M ? - - - - - - TSC bilateral SEN and multiple cardiac rhabdomyoma in patient, single dental pit (HP:0009722) and ambiguous pigmentory change in one parent; renal cysts 1 1 Rosemary Ekong
00143247 - unpublished index has suspected TS on CT scan and a large head M ? - - - - - - TSC macrocephaly (HP:0000256) 1 1 Rosemary Ekong
00143248 - unpublished index reported as possibly a somatic mosaic; one parent tested and the other parent not tested M ? - - - - - - TSC one parent has <3 hypomelanotic macules (HP:0009719) 1 1 Rosemary Ekong
00143249 - unpublished patient reported as possibly a somatic mosaic; no clinical features indicated; parents not tested M ? - - - - - - TSC - 1 1 Rosemary Ekong
00143250 - unpublished patient also has NF1 inherited from one parent M ? - - - - - - TSC neurofibromatosis (NF-1, HP:0001067) 1 1 Rosemary Ekong
00143251 - unpublished patient diagnosed with definite TS; both parents reported as phenotypically unaffected but not examined; parents not tested M ? - - - - - - TSC global developmental delay; 1 1 Rosemary Ekong
00143252 - unpublished - M ? - - - - - - TSC - 1 1 Rosemary Ekong
00143253 - unpublished both parents reported as unaffected but not tested M ? - - - - - - TSC speech delayed (HP:0000750), polycystic kidney disease (PKD-1, HP:0000113) 1 1 Rosemary Ekong
00143254 - unpublished TS affected F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143255 - unpublished TS affected F ? - - - - - - TSC polycystic kidney disease (PKD-1, HP:0000113) 1 1 Rosemary Ekong
00143256 - unpublished TS affected; both parents reported as unaffected F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143257 - unpublished TS affected; the one parent tested is reported as unaffected F ? - - - - - - TSC - 1 1 Rosemary Ekong
00143258 - PubMed: Kwiatkowski 2015 TSC affected patient with SEGA ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143259 - PubMed: Kwiatkowski 2015 patient has TSC with AML ? ? - - - - - - TSC - 1 1 Rosemary Ekong
00143260 - PubMed: Lee 2014 - ? ? Korea - - - - - TSC - 1 1 Rosemary Ekong
00143261 - PubMed: Lee 2014 - ? ? Korea - - - - - TSC - 1 1 Rosemary Ekong
00154966 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250); Blindness (HP:0000618) 1 1 IMGAG
00164338 - - - - - - - - - - - TSC - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00180192 29286531-Pat44 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy, specific learning disability (HP:0001328), facial angiofibromas (HP:0009720), renal cysts (HP:0000107). 1 1 Johan den Dunnen
00180194 29286531-Pat46 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Infantile spasms (HP:0012469), global developmental delay (HP:0001263). 1 1 Johan den Dunnen
00180298 - PubMed: Regazzo 2018 62yr old TSC patient with subsequent silent gonadotroph pituitary neuroendocrine tumour; no Fx TSC and no other TSC features (no renal, cardiac, skin, or lung features) TSC diagnosis only made after recognising symptoms in son; single PitNET seen on MRI; no recurrent pituitary adenoma (May 2018) F ? - white - - - PitNET resection TSC , 32yr old son has Cognitive impairment (HP:01005430) and neurobehavioural abnormalities from childhood 1 1 Rosemary Ekong
00181170 68944 - - M no Switzerland - - - - - EE - 1 1 Anaïs Begemann
00218930 - - - - - - - - - - - TSC - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00223106 - PubMed: vanSlegtenhorst, 1999; PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011 patient has two changes - deletion in TSC2 exons 13-15 and TSC1 missense variant c.568C>T; missense variant present in unaffected parent and normal population, and absent in affected parent ? - - - - - - - TSC - 1 2 Rosemary Ekong
00223108 - PubMed: vanSlegtenhorst, 1999; PubMed: Sancak, 2005; PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011 patient has two changes; deletion in TSC2 exons 15-41 and TSC1 missense variant c.153A>C (p.Glu51Asp) ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223139 - PubMed: van Slegtenhorst, 1997; PubMed: Jansen, 2008 sporadic case; patient has TSC1 frameshift c.1708_1709del and TSC2 intronic variant c.5260-15C>T ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223140 - PubMed: van Slegtenhorst, 1997; PubMed: Hoogeveen-Westerveld, 2011 patient has TSC1 missense c.1760A>G, TSC2 splice variant c.648+1G>A and TSC2 intronic variant c.5068+40G>A ? - - - - - - - TSC - 2 1 Rosemary Ekong
00223196 - originally in Kwaitkowski database; PubMed: Dabora, 2001 sporadic case with clinical diagnosis of TS; has TSC1 missense c.1006C>T and TSC2 nonsense c.911G>A; no FH of TS ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223197 - PubMed: Strizheva, 2001 TSC patient with symptomatic LAM who has TSC2 variants c.1600-14C>T, c.1578C>T, c.1716+16G>A; c.5202T>C, c.*61_*62del and TSC1 variant c.2829C>T ? - - - - - - - ? - 5 1 Rosemary Ekong
00223198 - PubMed: Ali, 2005 familial case; patient has TSC1 nonsense c.2111_2112del and TSC2 missense c.5017G>C ? - India - - - - - TSC cortical tubers, hypomelanotic macules, facial angiofibroma, shagreen patches, intellectual disability, ADHD, seizures, developmental delay 1 2 Rosemary Ekong
00223329 - PubMed: vanSlegtenhorst, 1999; PubMed: Sancak, 2005 diagnosed with definite TSC; patient has TSC1 missense c.1208C>T and TSC2 frameshift c.5204_5207duprn ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223332 - PubMed: Au 2007 patient has TSC2 frameshift c.2765dup and TSC1 c.2392-35T>C ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223333 - PubMed: Au 2007 patient has TSC2 nonsense c.3685C>T and TSC1 variant c.2392-35T>C ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223347 - PubMed: Au, 2007 sporadic case ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223389 - PubMed: Au, 2007 sporadic case with TSC1 nonsense c.973C>T and several others in TSC1 (c.965T>C and c.2392-35T>C) and in TSC2 (c.848+7G>A, c.2221-28A>G, c.2546-14C>T, c.2639+44C>G, c.5202T>C and 2 silent variants c.4293G>A and c.5397G>A) ? - - - - - - - TSC - 4 1 Rosemary Ekong
00223411 - PubMed: Au, 2007 - ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223448 - PubMed: vanSlegtenhorst, 1999; PubMed: Goedbloed, 2001; PubMed: Nellist, 2009; PubMed: Sancak, 2005 4-generation family with 8 individuals tested (3 affected, 4 unaffected, 1 –in 4th generation-the youngest with no signs of TSC); index (in 3rd generation) diagnosed with definite TS and has both TSC1 c.593_595del and TSC2 c.5420_5423del; TSC1 in-frame deletion c.593_595del segregates with disease and is absent in all unaffected family members including the youngest, but present in all affecteds (one parent and sibling of index); TSC2 c.5420_5423del inherited by index from the clinically unaffected parent; biological parenthood confirmed; no other pathogenic variant found; no evidence of somatic mosaicism in blood DNA; all unaffecteds clinical examined except youngest family member who also tested negative for both variants ? - Denmark Danish - - - - TSC index has facial angiofibroma (FA), ungual fibroma (UF), hypomelanotic macules (HM), abnormal CT, epilepsy, mild mental retardation; parent has FA, UF, HM; sibling has FA, UF, HM, abnormal CT 1 3 Rosemary Ekong
00223451 - PubMed: Zhang, 1999 sporadic case; patient has TSC1 silent variant c.1726T>C and TSC2 missense c.2887G>A; parental DNA unavailable for testing; Japanese ? - Japan - - - - - TSC - 1 1 Rosemary Ekong
00223617 - PubMed: Au 2007 patient has TSC2 c.5228G>A and TSC1 c.2392-35T>C ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223620 - PubMed: Yamamoto, 2002 6yr old sporadic case (inheritance not determined) reported to have with neurological, dermatological and brain radiological findings; patient has TSC1 missense c.2696C>G and TSC2 missense c.1034T>G F - Japan - - - - - TSC cardiac rhabdomyomas 1 1 Rosemary Ekong
00223665 - PubMed: Sasongko, 2008 43yr old patient F - Japan - - - - - TSC - 1 1 Rosemary Ekong
00223676 - PubMed: Nellist, 2009; PubMed: Coevoets, 2009; PubMed: Hoogeveen-Westerveld, 2011 diagnosed with definite TSC, no phenotypic or genetic information on parents; patient has TSC1 in-frame c.381_383del and TSC2 missense c.3943C>G; no other pathogenic variant found; no evidence of somatic mosaicism in blood DNA ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223684 - PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011 sporadic case; proband has two TSC2 missense variants (c.2410T>C and c.3557A>G) and TSC1 missense c.1001C>T; TSC1 missense c.1001C>T seen in affected and an unaffected family member; parents tested for TSC2 missense c.2410T>C and variant only found in proband and not in parents (personal communication) ? - - - - - - - TSC - 2 2 Rosemary Ekong
00223688 - unpublished patient has two variants; pathogenic TSC2 missense c.5227C>T and TSC1 silent variant c.3387C>T M - - - - - - - TSC - 1 1 Rosemary Ekong
00223690 - unpublished patient has two variants; TSC2 frameshift c.3693_3696del and intronic TSC1 c.1438+6G>A; parental studies performed and clinically unaffected father is a carrier of the TSC1 c.1438+6G>A variant F - - - - - - - TSC - 1 1 Rosemary Ekong
00223706 - unpublished - ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223730 - unpublished; PubMed: Hoogeveen-Westerveld, 2011 proband diagnosed with possible TSC has normal brain and renal MRI; both clinically unaffected parents tested; no history of TSC-related features in both parents' families F - - - - - - - TSC patient has seizures, one hypomelanotic macule 2 2 Rosemary Ekong
00223734 - unpublished diagnosed as TSC; patient has disease associated variant (TSC1 c.599dup); parents not tested M - - - - - - - TSC SEGA, seizures, hypomelanotic macules 1 1 Rosemary Ekong
00223735 - PubMed: Hoogeveen-Westerveld, 2013 diagnosed as TSC; patient has 4 major TS features M - - - - - - - TSC - 1 1 Rosemary Ekong
00223738 - unpublished - ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223750 - unpublished no definite mutation identified in patient; parents' DNA unavailable for testing ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223756 - unpublished reported that no definite mutation identified in patient; parents' DNA unavailable for testing ? - - - - - - - TSC - 1 1 Rosemary Ekong
00223762 - PubMed: Li, 2011 sporadic case; TS affected; patient has 2 TSC1 polymorphisms and one TSC2 frameshift variant; parents not tested M - China Guangdong province - - - - TSC patient has 3 major and one minor TS features together with seizure and mental retardation 1 1 Rosemary Ekong
00223763 - PubMed: Li, 2011; PubMed: Hoogeveen-Westerveld, 2012 TS affected; sporadic case; patient has 3 TSC1 and one TSC2 variants; both clinically unaffected parents tested and TSC2 c.2540T>C not found in parents; TSC1 variant c.397G>A (p.Val133Ile) present in one of the clinically unaffected parents M - China Han - - - - TSC patient has seizures, intellectual disability, >1 hypomelanotic macule, cortical tuber, facial angiofibromas 1 2 Rosemary Ekong
00223766 - PubMed: Li, 2011 TS affected; both parents tested and splice variant absent; one parent and one grandparent tested have TSC1 c.1960C>G and TSC2 c.856A>G (c.856A>G is homozygous in grandparent) M - China Jiangxi Province - - - - TSC - 2 3 Rosemary Ekong
00223772 - unpublished patient has TSC1 silent variant c.3324C>T and TSC2 nonsense variant c.4174C>T M - - - - - - - TSC - 1 1 Rosemary Ekong
00223777 - unpublished patient has TSC1 silent variant c.2226A>G and TSC2 frameshift c.1893dupG F - - - - - - - TSC - 1 1 Rosemary Ekong
00223781 - unpublished patient has one TSC1 and two TSC2 variants; none of the variants were present in the one parent tested M - - - - - - - TSC - 2 1 Rosemary Ekong
00223792 - PubMed: Hoogeveen-Westerveld, 2013 different case to that reported by Jones, 1997 and Dabora, 1998 M - - - - - - - TSC - 2 1 Rosemary Ekong
00223793 - unpublished - M - - - - - - - TSC - 1 1 Rosemary Ekong
00223803 - PubMed: Sancak 2005; PubMed: van den Ouweland, 2011; PubMed: Hoogeveen-Westerveld 2011 sporadic case; diagnosed with definite TSC at 30yrs; patient has TSC2 missense c.2963G>C and entire deletion of TSC1; the TSC1 deletion is absent in both unaffected parents; patient has inherited TSC2 c.2963G>C from one of the parents F - - - - - - - TSC cortical tubers, facial angiofibroma, fibrous plaques, hypomelanotic macules, retina depigmentattions, angiomyolipoma, multiple dental pits 1 1 Rosemary Ekong
00223805 - unpublished - M - - - - - - - TSC clinical diagnosis of TSC 1 1 Rosemary Ekong
00223809 - PubMed: Hoogeveen-Westerveld, 2011; PubMed: Hoogeveen-Westerveld, 2013 TSC2 missense c.3430G>A (p.Val1144Met) identified in index (parent); TSC1 missense c.395G>A (p.G132D) identified in index case and child ? - - - - - - - TSC index (parent) has skin and dental signs plus white matter abnormalities on brain MRI scan; their child has cardiac rhabdomyoma, skin, eye and dental signs 1 2 Rosemary Ekong
00223814 - PubMed: Hoogeveen-Westerveld, 2012 patient has both TSC1 missense c.1342C>T and TSC2 nonsense c.4515C>G variants ? - - - - - - - TSC - 1 1 Rosemary Ekong
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