Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45507199
rs45507199
PKD1 ; 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: rs45507199
rs45507199
PKD1 ; 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: rs45507199
rs45507199
PKD1 ; TSC2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 20165957

2010
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 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: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 16237225

2005
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 16114042

2005
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.800 CausalMutation CLINVAR Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801

1998