Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909218
rs121909218
0.820 GeneticVariation BEFREE G129E is a common germline PTEN mutations found in Cowden syndrome patients. 17324556

2007

dbSNP: rs121909218
rs121909218
0.820 GeneticVariation BEFREE A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. 10051603

1999

dbSNP: rs587782350
rs587782350
0.810 GeneticVariation BEFREE Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family. 10076877

1999

dbSNP: rs121909231
rs121909231
0.730 GeneticVariation BEFREE A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. 25756585

2015

dbSNP: rs121909231
rs121909231
0.730 GeneticVariation BEFREE We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. 10353779

1999

dbSNP: rs121909231
rs121909231
0.730 GeneticVariation BEFREE While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. 10232405

1999

dbSNP: rs121909219
rs121909219
0.710 GeneticVariation BEFREE The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7. 26678657

2016

dbSNP: rs562015640
rs562015640
0.710 GeneticVariation BEFREE A lysine mutant of PTEN, K289E associated with Cowden syndrome, retains catalytic activity but fails to accumulate in nuclei of patient tissue due to an import defect. 17218261

2007

dbSNP: rs121909224
rs121909224
0.710 GeneticVariation BEFREE While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan Zonana phenotype. 10772390

2000

dbSNP: rs786201044
rs786201044
0.710 GeneticVariation BEFREE To the best of our knowledge, the C136R mutation has not previously been reported in CD patients. 10848731

2000

dbSNP: rs786204929
rs786204929
0.010 GeneticVariation BEFREE We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene. 22469695

2012

dbSNP: rs762518389
rs762518389
0.010 GeneticVariation BEFREE Moreover, by functional analysis we found that the ability of PTEN N48K mutant protein to inhibit the activation of the proto-oncogene PKB/Akt was impaired, supporting the involvement of N48K mutation in Cowden disease. 14675182

2003

dbSNP: rs1085308048
rs1085308048
0.010 GeneticVariation BEFREE This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. 10193515

1998