Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517809
rs1057517809
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517809
rs1057517809
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519368
rs1057519368
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500115
rs1060500115
PTEN
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1060500122
rs1060500122
PTEN
T 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
dbSNP: rs1060500122
rs1060500122
PTEN
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
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs1085308041
rs1085308041
PTEN
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
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs1085308056
rs1085308056
PTEN
G 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1085308056
rs1085308056
PTEN
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs1114167621
rs1114167621
PTEN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167621
rs1114167621
PTEN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. 11071384

2000
dbSNP: rs1114167622
rs1114167622
PTEN
C 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
dbSNP: rs1114167622
rs1114167622
PTEN
C 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs1114167624
rs1114167624
PTEN
G 0.700 CausalMutation CLINVAR