Gene: PTCH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793921
rs1064793921
PTCH1
G 0.700 CausalMutation CLINVAR Manifestations of Gorlin-Goltz syndrome. 24814739

2014
dbSNP: rs1131690999
rs1131690999
PTCH1
G 0.700 GeneticVariation CLINVAR Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). 21834049

2011
dbSNP: rs1131690990
rs1131690990
PTCH1
G 0.700 GeneticVariation CLINVAR Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. 20068110

2010
dbSNP: rs1131690985
rs1131690985
PTCH1
T 0.700 GeneticVariation CLINVAR PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation? 19362041

2009
dbSNP: rs1131690985
rs1131690985
PTCH1
T 0.700 GeneticVariation CLINVAR PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968

2008
dbSNP: rs1131690986
rs1131690986
PTCH1
A 0.700 CausalMutation CLINVAR PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968

2008
dbSNP: rs1131690990
rs1131690990
PTCH1
G 0.700 GeneticVariation CLINVAR PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968

2008
dbSNP: rs863224650
rs863224650
PTCH1 ; LOC100507346
A 0.700 CausalMutation CLINVAR Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. 16906569

2006
dbSNP: rs1131690985
rs1131690985
PTCH1
T 0.700 GeneticVariation CLINVAR Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. 15712338

2005
dbSNP: rs1131690985
rs1131690985
PTCH1
T 0.700 GeneticVariation CLINVAR PTCH gene mutations in odontogenic keratocysts. 10890722

2000
dbSNP: rs1064794260
rs1064794260
PTCH1
A 0.700 CausalMutation CLINVAR Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online. 10200051

1998
dbSNP: rs1131690987
rs1131690987
PTCH1
C 0.700 CausalMutation CLINVAR 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: rs1060502273
rs1060502273
PTCH1
C 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: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
T 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: rs1131690974
rs1131690974
PTCH1
T 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 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: rs747234651
rs747234651
PTCH1
T 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: rs1060502281
rs1060502281
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502301
rs1060502301
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307752
rs1085307752
PTCH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690967
rs1131690967
PTCH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690968
rs1131690968
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690969
rs1131690969
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690970
rs1131690970
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690971
rs1131690971
PTCH1
GC 0.700 CausalMutation CLINVAR