|
rs1057515572
|
|
Overgrowth
|
ACT |
0.700 |
GeneticVariation
|
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
|
27426476 |
2017 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.
|
27870750 |
2017 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
|
26593112 |
2016 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
|
27631024 |
2016 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.
|
26301495 |
2015 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
|
25557259 |
2015 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
|
24497998 |
2014 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
|
23754335 |
2013 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
|
22228622 |
2012 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Rare cancer-specific mutations in PIK3CA show gain of function.
|
17376864 |
2007 |
|
rs1057519927
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.
|
16847462 |
2006 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
|
25132236 |
2015 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
|
23695273 |
2014 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hamartomatous polyposis syndromes: a review.
|
25022750 |
2014 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
|
24136893 |
2013 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
|
rs1060500126
|
|
Overgrowth
|
G |
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 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
PTEN hamartoma tumor syndrome: an overview.
|
19668082 |
2009 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
|
19265751 |
2009 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
|
17392703 |
2007 |
|
rs1060500126
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
|
17286265 |
2007 |