GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MLH1 M35Ninsufficiently evaluated pathogenicdominant

(1 web hit)

MLH1 S44Fpathogenicdominant

This variant was among the first MLH1 mutations identified to be associated with a high susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome), an association widely supported by numerous functional yeast assays.

(25 web hits)

MLH1 G67Einsufficiently evaluated pathogenicdominant

Though heterozygous mutations in MLH1 are usually associated with hereditary nonpolyposis colorectal cancer-2 (HNPCC2), other tumors unusual to a mutated MLH1 gene have been shown to be associated with the MLH1 G67E variant in addition to HNPCC2.

(30 web hits)

MLH1 G67Winsufficiently evaluated pathogenicdominant

Computational and functional evidence suggests that this variant is likely pathogenic and associated with HNPCC-2 (Lynch syndrome).

(5 web hits)

MLH1 T117Minsufficiently evaluated pathogenicdominant

This variant is associated with a high susceptibility to HNPCC-2 (Lynch syndrome).

(33 web hits)

MLH1 I121Vinsufficiently evaluated benigndominant
MLH1 D132Hpathogenic, f=0.000dominant

This variant is associated with a high susceptibility to sporadic colorectal cancer; unlike most MLH1 mutations, the MLH1 D132H variant is not strongly associated with microsatellite-unstable tumors.

(188 web hits)

MLH1 V201Iinsufficiently evaluated benign, f=0.008dominant var-GS19026-1100-36-ASM
MLH1 V213Muncertain benign, f=0.009dominant

Found segregating with non-polyposis colorectal cancer in a Portuguese family, but three later studies label it non-pathogenic.

(7 web hits)

var-GS19239-1100-36-ASM
var-GS18508-1100-36-ASM
MLH1 I219Vuncertain benign, f=0.240dominant

Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.

(133 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MLH1 R226Xinsufficiently evaluated pathogenicdominant

This variant causes a severe truncation of the MLH1 protein, including the PMS2 binding site, and is associated with a high susceptibility to HNPCC-2 (Lynch syndrome); patients homozygous with this variant have been found to demonstrate the symptoms of Mismatch Repair Cancer Syndrome (caused by constitutional mismatch repair deficiency).

(12 web hits)

MLH1 S252Xinsufficiently evaluated pathogenicdominant
MLH1 S269Xinsufficiently evaluated pathogenicdominant
MLH1 H329Pinsufficiently evaluated pathogenicdominant

This variant is likely pathogenic and associated with HNPCC-2 (Lynch syndrome).

(10 web hits)

MLH1 E578Ginsufficiently evaluated pathogenicdominant

Computational evidence suggests that this variant is benign; however, functional evidence shows that this variant may have a weak penetrance for colorectal cancer due to its reduced, though not entirely absent, binding affinity for PMS2.

(22 web hits)

MLH1 P581Linsufficiently evaluated pathogenic, f=0.008dominant var-GS18942-1100-36-ASM
MLH1 K618Ainsufficiently evaluated benigndominant

Computational and functional evidence suggests that this variant is likely benign.

(61 web hits)

MLH1 P648Spathogenicdominant

This variant is associated with susceptibility to HNPCC-2 (Lynch syndrome) and mild predisposition to Mismatch Cancer Syndrome in homozygotes; this mutation likely causes an unstable protein and subsequent low levels of normal MLH1 expression rather than a repair function deficiency.

(40 web hits)

MLH1 A681Tinsufficiently evaluated benigndominant

Computational and functional evidence suggests that this variant is likely benign.

(55 web hits)

MLH1 Q701Kinsufficiently evaluated benign, f=0.008dominant var-GS18555-1100-36-ASM
MLH1 V716Muncertain benigndominant

Though mutations in MLH1 are usually associated with hereditary nonpolyposis colon cancer (HNPCC, or Lynch syndrome), this variant is likely a benign polymorphism; this conclusion is supported by functional evidence and the similar proportions of carriers among patients with Lynch syndrome and those among controls.

CGI sample GS01669-DNA_B05 from PGP sample 86486261
MLH1 H718Yinsufficiently evaluated benign, f=0.024dominant

(18 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18508-1100-36-ASM
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Total results: 22

Gene search

"GENE" or "GENE A123C":

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