Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913293
rs121913293
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014

dbSNP: rs121913293
rs121913293
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013

dbSNP: rs1064793345
rs1064793345
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012

dbSNP: rs1064793345
rs1064793345
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012

dbSNP: rs121909227
rs121909227
T 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012

dbSNP: rs121913293
rs121913293
T 0.700 CausalMutation CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360

2012

dbSNP: rs121909227
rs121909227
T 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011

dbSNP: rs121909231
rs121909231
T 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: rs121913293
rs121913293
T 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000

dbSNP: rs121909227
rs121909227
T 0.700 CausalMutation CLINVAR Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 9832032

1998

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897

1997

dbSNP: rs1057524874
rs1057524874
GGA 0.700 CausalMutation CLINVAR

dbSNP: rs1114167667
rs1114167667
G 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909224
rs121909224
T 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564568303
rs1564568303
AAG 0.700 GeneticVariation CLINVAR

dbSNP: rs370795352
rs370795352
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398123323
rs398123323
TA 0.700 CausalMutation CLINVAR

dbSNP: rs797045904
rs797045904
T 0.700 CausalMutation CLINVAR