Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909235
rs121909235
PTEN
0.010 GeneticVariation BEFREE Germline exome sequencing revealed a missense mutation of PTEN (p.Arg234Gln), a rare variant with a reported association with cancer development but not with other PHTS phenotypes. 28755079

2018
dbSNP: rs1057517809
rs1057517809
PTEN
A 0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs1057519368
rs1057519368
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057520208
rs1057520208
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1060500110
rs1060500110
PTEN
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
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1060500114
rs1060500114
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064792911
rs1064792911
PTEN
A 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
dbSNP: rs1064792911
rs1064792911
PTEN
A 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1085308040
rs1085308040
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
A 0.700 CausalMutation CLINVAR

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
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: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1114167621
rs1114167621
PTEN
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
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167641
rs1114167641
PTEN
A 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167667
rs1114167667
PTEN
A 0.700 CausalMutation CLINVAR Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 10234502

1999
dbSNP: rs121909218
rs121909218
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011