Gene: TCF4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
dbSNP: rs1555710171
rs1555710171
TCF4
A 0.700 GeneticVariation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
dbSNP: rs1555721921
rs1555721921
TCF4
G 0.700 GeneticVariation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
dbSNP: rs1555778204
rs1555778204
TCF4
A 0.700 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
dbSNP: rs1555797248
rs1555797248
TCF4
T 0.700 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
dbSNP: rs1555710171
rs1555710171
TCF4
A 0.700 GeneticVariation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
dbSNP: rs1555721921
rs1555721921
TCF4
G 0.700 GeneticVariation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
dbSNP: rs1555778204
rs1555778204
TCF4
A 0.700 CausalMutation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
dbSNP: rs1555797248
rs1555797248
TCF4
T 0.700 CausalMutation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
dbSNP: rs1555710171
rs1555710171
TCF4
A 0.700 GeneticVariation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
dbSNP: rs1555721921
rs1555721921
TCF4
G 0.700 GeneticVariation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
dbSNP: rs1555778204
rs1555778204
TCF4
A 0.700 CausalMutation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
dbSNP: rs1555797248
rs1555797248
TCF4
T 0.700 CausalMutation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
dbSNP: rs1555710171
rs1555710171
TCF4
A 0.700 GeneticVariation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
dbSNP: rs1555721921
rs1555721921
TCF4
G 0.700 GeneticVariation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
dbSNP: rs1555778204
rs1555778204
TCF4
A 0.700 CausalMutation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
dbSNP: rs1555797248
rs1555797248
TCF4
T 0.700 CausalMutation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. 22460224

2012
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. 23185296

2012
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893

2012
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594

2012
dbSNP: rs1057521070
rs1057521070
TCF4
T 0.700 CausalMutation CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651

2012