rs121909224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
|
22266152 |
2012 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
rs121909224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
rs121909232
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
|
25756585 |
2015 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs1085308041
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1085308043
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1114167621
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1114167622
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1114167650
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
rs138336847
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1554897854
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1554897889
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1554897889
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1554898242
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1554900675
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs398123318
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs587776667
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |