rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
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 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Gorlin syndrome.
|
21304560 |
2011 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
|
15459969 |
2004 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
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 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
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 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
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 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
|
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 |
rs878853856
|
|
Basal Cell Nevus Syndrome
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057520590
|
|
Basal Cell Nevus Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502264
|
|
Basal Cell Nevus Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502268
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
|
24204797 |
2013 |
rs1060502268
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
|
16301862 |
2006 |
rs1060502268
|
|
Basal Cell Nevus Syndrome
|
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 |
rs1060502268
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
|
12655573 |
2003 |
rs1060502271
|
|
Basal Cell Nevus Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502273
|
|
Basal Cell Nevus Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502274
|
|
Basal Cell Nevus Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502277
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
|
16301862 |
2006 |
rs1060502277
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
PTCH mutations: distribution and analyses.
|
16419085 |
2006 |
rs1060502277
|
|
Basal Cell Nevus Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060502278
|
|
Basal Cell Nevus Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502280
|
|
Basal Cell Nevus Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502281
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502285
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|