Gene: PTCH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1249050389
rs1249050389
PTCH1
0.010 GeneticVariation BEFREE The effect of HH pathway hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on renal ADPKD progression in the proband was compared to 18 age- and sex-matched ADPKD patients in a 9-year, prospective, follow-up study. 30368514

2018
dbSNP: rs755103500
rs755103500
PTCH1
0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801

2009
dbSNP: rs766905791
rs766905791
PTCH1
0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801

2009
dbSNP: rs773304123
rs773304123
PTCH1 ; LOC100507346
0.010 GeneticVariation BEFREE PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway. 18285427

2008
dbSNP: rs1131690985
rs1131690985
PTCH1
0.010 GeneticVariation BEFREE Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. 10890722

2000
dbSNP: rs1064793921
rs1064793921
PTCH1
C 0.700 CausalMutation CLINVAR Manifestations of Gorlin-Goltz syndrome. 24814739

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: 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: 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: 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: 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: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
T 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
T 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1064793921
rs1064793921
PTCH1
C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1064793921
rs1064793921
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1131690986
rs1131690986
PTCH1
A 0.700 CausalMutation CLINVAR [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 16508594

2006
dbSNP: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation CLINVAR Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. 17021131

2006
dbSNP: rs1554698613
rs1554698613
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1554698613
rs1554698613
PTCH1
C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

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

2006