TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 28127866 2017
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672 2015
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. 21910228 2011
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039 2011
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia. 20399389 2010
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 GeneticVariation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007