Gene: SMAD4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs80338963
rs80338963
SMAD4
T 0.700 CausalMutation CLINVAR JP-HHT phenotype in Danish patients with SMAD4 mutations. 26572829

2016
dbSNP: rs80338963
rs80338963
SMAD4
T 0.700 CausalMutation CLINVAR Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. 26900293

2016
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. 27375208

2016
dbSNP: rs377767360
rs377767360
SMAD4
T 0.700 CausalMutation CLINVAR Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 25931195

2015
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 25931195

2015
dbSNP: rs1060500733
rs1060500733
SMAD4
T 0.700 CausalMutation CLINVAR Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 24525918

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 CausalMutation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 CausalMutation CLINVAR Myhre syndrome. 24580733

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 CausalMutation CLINVAR Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. 24841914

2014
dbSNP: rs377767360
rs377767360
SMAD4
T 0.700 CausalMutation CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472

2013
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472

2013
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs876660556
rs876660556
SMAD4
A 0.700 GeneticVariation CLINVAR SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer. 23139211

2013
dbSNP: rs876660556
rs876660556
SMAD4
A 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs281875324
rs281875324
SMAD4
G 0.700 GeneticVariation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs80338963
rs80338963
SMAD4
T 0.700 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? 22748914

2012
dbSNP: rs377767360
rs377767360
SMAD4
T 0.700 CausalMutation CLINVAR SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. 21465659

2011
dbSNP: rs1555686608
rs1555686608
SMAD4
T 0.700 CausalMutation CLINVAR SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. 20685751

2010