rs137854882
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45438205
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability.
28149746
2017
rs45438205
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45483392
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45507199
PKD1;TSC2
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
rs45517258
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45517259
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45517382
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs28934872
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
A
0.800
CausalMutation
CLINVAR
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
26703369
2016
rs45517382
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
G
0.800
CausalMutation
CLINVAR
mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency.
27078846
2016
rs137854882
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45438205
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
26540169
2015
rs45483392
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45507199
PKD1;TSC2
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
rs45517258
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
25432535
2015
rs45517258
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45517259
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45517259
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
A
0.800
CausalMutation
CLINVAR
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
25432535
2015
rs45517382
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
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
rs45438205
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex.
25039834
2014
rs137854882
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs137854882
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013