rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PTEN hamartoma tumor syndrome: an overview.
|
19668082 |
2009 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
|
25132236 |
2015 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
|
24136893 |
2013 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
|
21194675 |
2011 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
|
11238682 |
2001 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
|
15805158 |
2005 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
|
12844284 |
2003 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
|
17427195 |
2007 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
|
17392703 |
2007 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
|
17286265 |
2007 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
|
23695273 |
2014 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
|
19265751 |
2009 |
rs1554898088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hamartomatous polyposis syndromes: a review.
|
25022750 |
2014 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
|
25132236 |
2015 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hamartomatous polyposis syndromes: a review.
|
25022750 |
2014 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
|
19265751 |
2009 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
|
21194675 |
2011 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
PTEN hamartoma tumor syndrome: an overview.
|
19668082 |
2009 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
|
11238682 |
2001 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
|
24136893 |
2013 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
|
17392703 |
2007 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
|
17427195 |
2007 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
rs786201041
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
|
23695273 |
2014 |