Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931588
rs28931588
CTNNB1
0.820 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009
dbSNP: rs28931588
rs28931588
CTNNB1
0.820 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs28931588
rs28931588
CTNNB1
0.820 GeneticVariation BEFREE A novel mutation, D32N, was found in one case of pilomatricoma. 11472567

2001
dbSNP: rs28931588
rs28931588
CTNNB1
0.820 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283

2001
dbSNP: rs28931588
rs28931588
CTNNB1
0.820 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393

1999
dbSNP: rs28931588
rs28931588
CTNNB1
T 0.820 CausalMutation CLINVAR

dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283

2001
dbSNP: rs121913403
rs121913403
CTNNB1
0.810 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393

1999
dbSNP: rs121913403
rs121913403
CTNNB1
G 0.810 CausalMutation CLINVAR

dbSNP: rs121913403
rs121913403
CTNNB1
T 0.810 CausalMutation CLINVAR

dbSNP: rs121913396
rs121913396
CTNNB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913400
rs121913400
CTNNB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913413
rs121913413
CTNNB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs28931589
rs28931589
CTNNB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913396
rs121913396
CTNNB1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913400
rs121913400
CTNNB1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913413
rs121913413
CTNNB1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28931589
rs28931589
CTNNB1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913396
rs121913396
CTNNB1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121913400
rs121913400
CTNNB1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013