Disease: Hamartoma Syndrome, Multiple ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554890324
rs1554890324
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881 2014
dbSNP: rs1554890324
rs1554890324
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR Challenges in the management of a patient with Cowden syndrome: case report and literature review. 22503188 2012
dbSNP: rs1554890324
rs1554890324
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		G 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: rs587776671
rs587776671
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		CA 0.700 CausalMutation CLINVAR