Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 28149746

2017
dbSNP: rs45438205
rs45438205
TSC2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs45438205
rs45438205
TSC2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex. 25039834

2014
dbSNP: rs45438205
rs45438205
TSC2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs45438205
rs45438205
TSC2
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 21332470

2012
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. 18792920

2008
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998
dbSNP: rs45438205
rs45438205
TSC2
T 0.800 CausalMutation CLINVAR Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881

1996