rs587779338
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
|
28503822 |
2018 |
rs1554295967
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
|
28874130 |
2017 |
rs267608154
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
|
27696107 |
2017 |
rs587779338
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
|
28365877 |
2017 |
rs63751466
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
|
28805995 |
2017 |
rs758304323
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
|
28640387 |
2017 |
rs758304323
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
rs760228510
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
|
27273229 |
2017 |
rs786201047
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
rs876659736
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
rs1064793234
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs121434629
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.
|
26866578 |
2016 |
rs141577476
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs200640585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
|
27589204 |
2016 |
rs200640585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs201451115
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
rs201451115
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs267608153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
rs267608153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
rs267608153
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs267608154
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs267608172
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
rs573125799
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |