Gene: PTCH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502271
rs1060502271
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502274
rs1060502274
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502277
rs1060502277
PTCH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502278
rs1060502278
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690986
rs1131690986
PTCH1
A 0.700 CausalMutation CLINVAR [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 16508594

2006
dbSNP: rs1131690986
rs1131690986
PTCH1
A 0.700 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943

1997
dbSNP: rs1131690986
rs1131690986
PTCH1
A 0.700 CausalMutation CLINVAR De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. 9415689

1997
dbSNP: rs1344258746
rs1344258746
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554695039
rs1554695039
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. 22952776

2012
dbSNP: rs1554695039
rs1554695039
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943

1997
dbSNP: rs1554698260
rs1554698260
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554700574
rs1554700574
PTCH1
A 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1554700574
rs1554700574
PTCH1
A 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1554700720
rs1554700720
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554700742
rs1554700742
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554702186
rs1554702186
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564030530
rs1564030530
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564051237
rs1564051237
PTCH1
A 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797

2013
dbSNP: rs199476090
rs199476090
PTCH1
A 0.700 CausalMutation CLINVAR Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 8681379

1996
dbSNP: rs267606984
rs267606984
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs766313615
rs766313615
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR

dbSNP: rs863224484
rs863224484
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs864622212
rs864622212
PTCH1
A 0.700 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943

1997
dbSNP: rs864622212
rs864622212
PTCH1
A 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs864622583
rs864622583
PTCH1
A 0.700 CausalMutation CLINVAR