Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434397
rs121434397
PTCH2
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 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: rs121434397
rs121434397
PTCH2
0.800 GeneticVariation UNIPROT Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190

2013
dbSNP: rs121434397
rs121434397
PTCH2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560

2011
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560

2011
dbSNP: rs121434397
rs121434397
PTCH2
0.800 GeneticVariation UNIPROT A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 18285427

2008
dbSNP: rs121434397
rs121434397
PTCH2
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 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 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
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 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 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 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996
dbSNP: rs121434397
rs121434397
PTCH2
T 0.800 CausalMutation CLINVAR

dbSNP: rs878853856
rs878853856
PTCH1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs1064793921
rs1064793921
PTCH1
C 0.700 CausalMutation CLINVAR Manifestations of Gorlin-Goltz syndrome. 24814739

2014
dbSNP: rs1554841447
rs1554841447
SUFU
A 0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
dbSNP: rs1564035949
rs1564035949
PTCH1 ; LOC100507346
G 0.700 CausalMutation CLINVAR Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. 25131638

2014
dbSNP: rs1564676479
rs1564676479
SUFU
A 0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
dbSNP: rs587776578
rs587776578
SUFU
A 0.700 CausalMutation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
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: 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: rs1564055606
rs1564055606
PTCH1
C 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797

2013
dbSNP: rs1564055612
rs1564055612
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: rs56126236
rs56126236
PTCH2
C 0.700 GeneticVariation CLINVAR Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190

2013