| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. | 16301862 | 2006 |
|||
|
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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. | 12655573 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. | 24204797 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. | 16301862 | 2006 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | PTCH mutations: distribution and analyses. | 16419085 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | PTCH mutations: distribution and analyses. | 16419085 | 2006 |
|||
|
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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. | 16301862 | 2006 |
|||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |