| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. | 28149746 | 2017 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
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 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex. | 25039834 | 2014 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. | 23519317 | 2013 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. | 22867869 | 2013 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
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 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. | 21309039 | 2011 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. | 18792920 | 2008 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. | 17304050 | 2007 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. | 9463313 | 1998 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. | 8824881 | 1996 | |||||
Tuberous Sclerosis
|
0.010 | GeneticVariation | BEFREE | Functional analysis of the TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1-TSC2 function. | 21332470 | 2012 |