rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
|
27426476 |
2017 |
rs1057519927
|
|
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 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
|
27426476 |
2017 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.
|
27870750 |
2017 |
rs1057519927
|
|
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
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
|
27631024 |
2016 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
|
27631024 |
2016 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
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
|
|
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
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
|
25557259 |
2015 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.
|
26301495 |
2015 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
|
25557259 |
2015 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
|
24497998 |
2014 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
|
24497998 |
2014 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
|
23754335 |
2013 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
|
23754335 |
2013 |
rs1057519927
|
|
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
|
|
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 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
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 |
rs867262025
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Rare cancer-specific mutations in PIK3CA show gain of function.
|
17376864 |
2007 |