Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204864
rs786204864
0.710 GeneticVariation BEFREE PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. 17043057

2007

dbSNP: rs587782350
rs587782350
0.710 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999

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

1999

dbSNP: rs786204864
rs786204864
0.710 CausalMutation CLINVAR

dbSNP: rs863224909
rs863224909
0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

dbSNP: rs121909221
rs121909221
0.700 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117

2001

dbSNP: rs587782343
rs587782343
0.700 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117

2001

dbSNP: rs587782360
rs587782360
0.700 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117

2001

dbSNP: rs121909221
rs121909221
0.700 GeneticVariation UNIPROT Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000

dbSNP: rs121909221
rs121909221
0.700 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999

dbSNP: rs587782343
rs587782343
0.700 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999

dbSNP: rs587782360
rs587782360
0.700 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999

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

1997

dbSNP: rs121909221
rs121909221
0.700 GeneticVariation UNIPROT P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997

dbSNP: rs398123317
rs398123317
0.700 GeneticVariation UNIPROT

dbSNP: rs121909231
rs121909231
0.010 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