Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554898088
rs1554898088
PTEN
A 0.700 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 GeneticVariation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs1554898088
rs1554898088
PTEN
A 0.700 CausalMutation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs1554898088
rs1554898088
PTEN
A 0.700 CausalMutation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 GeneticVariation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs1554898088
rs1554898088
PTEN
A 0.700 CausalMutation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs1554898088
rs1554898088
PTEN
A 0.700 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 GeneticVariation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007