Gene: PTCH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853856
rs878853856
PTCH1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326

2001
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT 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: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969

2004
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560

2011
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294

1998
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996
dbSNP: rs1057520590
rs1057520590
PTCH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502264
rs1060502264
PTCH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933

2005
dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. 12655573

2003
dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797

2013
dbSNP: rs1060502271
rs1060502271
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502273
rs1060502273
PTCH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502277
rs1060502277
PTCH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502277
rs1060502277
PTCH1
T 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1060502277
rs1060502277
PTCH1
T 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1060502278
rs1060502278
PTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502280
rs1060502280
PTCH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502281
rs1060502281
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502285
rs1060502285
PTCH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502286
rs1060502286
PTCH1
C 0.700 CausalMutation CLINVAR