Gene: PTCH2 ×
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: 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: 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: rs121434397
rs121434397
PTCH2
T 0.800 CausalMutation CLINVAR

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

2013
dbSNP: rs56126236
rs56126236
PTCH2
C 0.700 CausalMutation CLINVAR