rs63750451
|
|
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 |
rs63750490
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs63750871
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
rs63750871
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
rs63751422
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
rs63751466
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
rs763308607
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs786202098
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
rs786203073
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
rs876659736
|
|
C |
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 |
rs876659736
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
rs876659736
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
rs1060503110
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
|
25871621 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
rs1554297534
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
|
26391938 |
2015 |
rs1554298082
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
rs188006077
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
|
26247049 |
2015 |
rs188006077
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
rs200640585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
rs200640585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
|
25477341 |
2015 |
rs201451115
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.
|
25648859 |
2015 |