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
|
|
Neoplastic Syndromes, Hereditary
|
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 |
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 |
|
|
|
rs1060502281
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502285
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1060502286
|
|
Basal Cell Nevus Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502287
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1060502292
|
|
Basal Cell Nevus Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTCH mutations: distribution and analyses.
|
16419085 |
2006 |
rs1060502292
|
|
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 |
rs1060502292
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs1060502292
|
|
Basal Cell Nevus Syndrome
|
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 |
rs1060502294
|
|
Basal Cell Nevus Syndrome
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|