rs1057517541
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
rs1060500702
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060504000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families.
|
25762362 |
2015 |
rs111052004
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs11541859
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121912965
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1260021106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families.
|
25762362 |
2015 |
rs1392665848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant.
|
22773173 |
2012 |
rs1418586322
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population.
|
15516845 |
2004 |
rs1418586322
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers.
|
17414604 |
2007 |
rs1481129490
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1481129490
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553637475
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553640340
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553641269
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553642492
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553642657
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
|
14635101 |
2003 |
rs1553642657
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
|
18625694 |
2008 |
rs1553642657
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
|
16941473 |
2006 |
rs1553642657
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
|
20937110 |
2010 |
rs1553642698
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553644155
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553645256
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553646669
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553647795
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|