COCA1
MCID: LYN001
MIFTS: 74

Lynch Syndrome (COCA1) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories
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Summaries for Lynch Syndrome

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Genetics Home Reference:21 Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

MalaCards based summary: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to male breast cancer and muir-torre syndrome, and has symptoms including An important gene associated with Lynch Syndrome is MLH1 (mutL homolog 1), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. The compounds 6 thioguanine and n-methyl-n-nitrosourea have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and skin, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:42 Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. individuals with lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. women with lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with lynch syndrome may occasionally have colon polyps. lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the mlh1, msh2, msh6, pms2 or epcam gene. last updated: 10/18/2013

Wikipedia:65 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic... more...

Descriptions from OMIM:46 609310,613244,120435

GeneReviews summary for hnpcc

Aliases & Classifications for Lynch Syndrome

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Lynch Syndrome, Aliases & Descriptions:

Name: Lynch Syndrome 8 65 19 42 20 22 21 10 44
Hereditary Nonpolyposis Colorectal Cancer 8 65 42 21 62
Hnpcc 65 19 42 21
Familial Nonpolyposis Colon Cancer 65 42 21
Hereditary Defective Mismatch Repair Syndrome 8 62
Hnpcc - Hereditary Nonpolyposis Colon Cancer 8 62
Hereditary Nonpolyposis Colorectal Neoplasms 21 62
Hereditary Nonpolyposis Colorectal Neoplasm 8 62
Colon Cancer, Familial Nonpolyposis 65 42
Cancer Family Syndrome 65 21
Lynch Syndrome 1 42 22
Lynch Syndrome 2 42 22
 
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 62
Hereditary Non-Polyposis Colon Cancer Type 2 62
Hereditary Non-Polyposis Colon Cancer Type 1 8
Colorectal Cancer, Hereditary Nonpolyposis 42
Hereditary Non-Polyposis Colon Cancer 19
Hereditary Nonpolyposis Colon Cancer 44
Lynch Cancer Family Syndrome 2 62
Lynch Syndrome Ii 44
Lynch Syndrome I 44
Coca 1 8
Coca1 42


Classifications:



External Ids:

Disease Ontology8 DOID:3883
SNOMED-CT57 315058005
MeSH34 D003123

Related Diseases for Lynch Syndrome

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Diseases in the Lynch Syndrome family:

Mlh1-Related Lynch Syndrome Msh2-Related Lynch Syndrome
Msh6-Related Lynch Syndrome Pms2-Related Lynch Syndrome
Epcam-Related Lynch Syndrome Mlh3-Related Lynch Syndrome
Pms1-Related Lynch Syndrome

Diseases related to Lynch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1male breast cancer31.0BRCA1, BRCA2
2muir-torre syndrome30.9MLH1, MSH6, MSH2
3turcot syndrome30.9PMS2, MLH1
4breast cancer30.8APC, BRCA2, BRCA1
5gastric cancer, somatic30.8APC, MUTYH
6endometrial carcinoma30.7BRAF, MLH1
7colorectal cancer30.7MSH6, MUTYH, EPCAM, BRAF, APC, PMS1
8familial colorectal cancer30.6MSH2, MSH6, BRCA1, BRCA2, APC, MLH1
9keratoacanthoma30.6MLH1, MSH2
10li-fraumeni syndrome30.5BRCA2, BRCA1
11retinoblastoma30.4EPCAM, BRCA1, BRCA2, APC, PMS1
12neurofibromatosis30.3MLH1, PMS2, BRCA2, MSH6, MSH2
13ovarian cancer30.2MLH1, PMS2, BRCA2, BRCA1, BRAF, EPCAM
14melanoma30.2MLH1, PMS2, PMS1, BRCA2, BRAF, EPCAM
15sarcoma30.2MLH1, BRCA2, BRAF, MSH2
16ulcerative colitis30.1MSH2, APC, MLH1
17adenoma30.1MLH1, PMS2, APC, BRCA1, BRAF, MUTYH
18pancreatic cancer30.0MLH1, BRCA2, BRCA1, BRAF, EPCAM, MSH2
19adenocarcinoma29.8MLH1, PMS2, APC, BRCA2, BRCA1, BRAF
20familial adenomatous polyposis29.8MSH2, MSH6, MUTYH, BRAF, BRCA1, APC
21prostate cancer29.2PMS2, PMS1, APC, BRCA2, BRCA1, RNASEL
22colon cancer10.5
23breast-ovarian cancer, familial, 110.5BRCA2
24colorectal cancer, hereditary nonpolyposis, type 810.5
25colorectal cancer, hereditary nonpolyposis, type 510.5
26colorectal cancer, hereditary nonpolyposis, type 610.5
27colorectal cancer, hereditary nonpolyposis, type 210.5
28colorectal cancer, hereditary nonpolyposis, type 410.5
29colorectal cancer, hereditary nonpolyposis, type 710.5
30small bowel adenocarcinoma10.5
31colorectal adenoma10.5
32prostatitis10.5
33small intestine cancer10.4MLH1, MSH6
34intestinal neoplasm10.4APC
35brca1 and brca2 hereditary breast and ovarian cancer10.4BRCA1, BRCA2
36fallopian tube cancer10.4BRCA2, BRCA1
37peritoneal carcinoma10.4BRCA1, BRCA2
38bilateral breast cancer10.4BRCA2, BRCA1
39follicular lymphoma10.3
40hereditary hemorrhagic telangiectasia10.3
41non-hodgkin lymphoma10.3
42uterine carcinosarcoma10.3
43lymphoepithelioma-like carcinoma10.3
44appendix carcinoid tumor10.3
45duodenitis10.3
46liposarcoma10.3
47pleomorphic rhabdomyosarcoma10.3
48rhabdomyosarcoma10.3
49attenuated familial adenomatous polyposis10.3
50hyperplastic polyposis syndrome10.3

Graphical network of the top 20 diseases related to Lynch Syndrome:



Diseases related to lynch syndrome

Symptoms for Lynch Syndrome

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Clinical features from OMIM:

609310,613244,120435

HPO human phenotypes related to Lynch Syndrome:

(show all 20)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 anemia hallmark (90%) HP:0001903
3 constipation hallmark (90%) HP:0002019
4 malabsorption hallmark (90%) HP:0002024
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 intestinal obstruction hallmark (90%) HP:0005214
7 neoplasm of the colon hallmark (90%) HP:0100273
8 neoplasm of the rectum hallmark (90%) HP:0100743
9 neoplasm of the pancreas typical (50%) HP:0002894
10 neoplasm of the nervous system typical (50%) HP:0004375
11 neoplasm of the stomach typical (50%) HP:0006753
12 renal neoplasm typical (50%) HP:0009726
13 uterine neoplasm typical (50%) HP:0010784
14 biliary tract neoplasm typical (50%) HP:0100574
15 ovarian neoplasm typical (50%) HP:0100615
16 neoplasm of the small intestine typical (50%) HP:0100833
17 recurrent urinary tract infections occasional (7.5%) HP:0000010
18 ascites occasional (7.5%) HP:0001541
19 nausea and vomiting occasional (7.5%) HP:0002017
20 hepatomegaly occasional (7.5%) HP:0002240

Drugs & Therapeutics for Lynch Syndrome

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Drug clinical trials:

Search ClinicalTrials for Lynch Syndrome

Search NIH Clinical Center for Lynch Syndrome

Genetic Tests for Lynch Syndrome

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Genetic tests related to Lynch Syndrome:

id Genetic test Affiliating Genes
1 Lynch Syndrome20 22
2 Lynch Syndrome Ii22
3 Lynch Syndrome I22

Anatomical Context for Lynch Syndrome

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MalaCards organs/tissues related to Lynch Syndrome:

32
Colon, Brain, Skin, Small intestine, Testes, Ovary, Liver, Prostate, Uterus, Breast, Kidney, Lung, Pancreas, Thyroid

Animal Models for Lynch Syndrome or affiliated genes

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Publications for Lynch Syndrome

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Articles related to Lynch Syndrome:

(show top 50)    (show all 581)
idTitleAuthorsYear
1
Estimating successive cancer risks in Lynch Syndrome families using a progressive three-state model. (23946183)
2014
2
MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report. (25213678)
2014
3
POLE mutations as an alternative pathway for microsatellite instability in endometrial cancer: Implications for Lynch syndrome testing. (25224324)
2014
4
Identifying Persons with Lynch Syndrome: Why and How? (25344908)
2014
5
Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case. (23896635)
2013
6
Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers. (24244552)
2013
7
Colorectal cancer: Update on the clinical management of Lynch syndrome. (23609465)
2013
8
The role of epigenetics in Lynch syndrome. (23462881)
2013
9
Colorectal surveillance in Lynch syndrome families. (23525799)
2013
10
Value-based healthcare in Lynch syndrome. (23681793)
2013
11
New genetic variants of genes MMR in a Spanish family with Lynch syndrome. (23224667)
2013
12
Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. (23385444)
2013
13
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. (22883484)
2013
14
Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome. (23639481)
2013
15
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. (21520036)
2012
16
Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. (22595844)
2012
17
Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. (22854115)
2012
18
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. (22388758)
2012
19
Lynch syndrome diagnostics: decision-making process for germ-line testing. (22484632)
2012
20
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. (22395473)
2012
21
Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome. (22086974)
2012
22
Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. (22124091)
2012
23
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. (22167527)
2012
24
Cancer: Lynch syndrome--how should colorectal cancer be managed? (21460875)
2011
25
Testing women with endometrial cancer to detect Lynch syndrome. (21537049)
2011
26
Prospective study of combined colon and endometrial cancer screening in women with lynch syndrome: a patient-centered approach. (21532810)
2011
27
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome. (21115857)
2011
28
On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms. (20465492)
2010
29
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. (19635727)
2010
30
Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (20706999)
2010
31
Comparison of extended colectomy and limited resection in patients with Lynch syndrome. (20010355)
2010
32
Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. (20697958)
2010
33
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome. (19672700)
2009
34
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. (19250818)
2009
35
Molecular screening for Lynch syndrome: from bench to bedside. (19858372)
2009
36
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. (19459153)
2009
37
Identifying Lynch syndrome. (19536819)
2009
38
The identification of Lynch syndrome in British Columbia. (19893772)
2009
39
Commentary: The shifting role of family history in Lynch syndrome diagnosis. (19508539)
2009
40
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. (19215248)
2009
41
Lynch syndrome in women less than 50 years of age with endometrial cancer. (18448750)
2008
42
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
43
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
44
Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. (18672142)
2008
45
Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer). (18081655)
2007
46
Need of new clinical criteria for the identification of genetic Lynch syndrome]. (18331697)
2007
47
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
48
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. (16203772)
2005
49
Review of the molecular genetics of the Lynch syndrome]. (9650415)
1998
50
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). (8600057)
1996

Variations for Lynch Syndrome

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Clinvar genetic disease variations for Lynch Syndrome:

6 (show all 1,056)
id Gene Name Type Significance SNP ID Assembly Location
1MSH6NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48026489: 48026489
2MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicGRCh37Chr 2, 48026911: 48026912
3PMS2NM_000535.5(PMS2): c.1376C> A (p.Ser459Ter)single nucleotide variantPathogenicGRCh37Chr 7, 6027020: 6027020
4MLH1NM_000249.3(MLH1): c.755C> A (p.Ser252Ter)single nucleotide variantPathogenicrs63750198GRCh37Chr 3, 37056000: 37056000
5MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
6MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
7MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
8MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
9MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
10MLH1NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly)single nucleotide variantPathogenicrs63751612GRCh37Chr 3, 37089011: 37089011
11MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
12MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
13MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
14MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
15MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
16MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
17MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
18MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
19MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
20MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
21MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
22MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
23MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
24MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicGRCh37Chr 2, 47635597: 47635618
25MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
26MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
27MSH2nsv513794deletionPathogenic
28MSH2NG_007110.2: g.4247_24291deldeletionPathogenicGRCh38Chr 2, 47402370: 47422414
29MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
30MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
31MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)single nucleotide variantPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
32MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)single nucleotide variantPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
33MLH1NM_000249.3(MLH1): c.454-1G> Asingle nucleotide variantPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
34MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
35MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
36MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)single nucleotide variantPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
37MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
38MSH6NM_000179.2(MSH6): c.3052_3053delCT (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028174: 48028175
39MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionLikely pathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
40MSH6NM_000179.2(MSH6): c.3173-1G> Csingle nucleotide variantLikely pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
41MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)single nucleotide variantLikely pathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
42MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
43MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicGRCh37Chr 2, 48026223: 48026223
44MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
45MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicGRCh37Chr 2, 48026261: 48026265
46MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
47MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)single nucleotide variantPathogenicGRCh37Chr 2, 48026315: 48026315
48MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicGRCh37Chr 2, 48026398: 48026398
49MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)single nucleotide variantPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
50MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)single nucleotide variantPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
51MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
52MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
53MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)single nucleotide variantPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
54MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48026605: 48026605
55MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48026694: 48026694
56MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
57MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicGRCh37Chr 2, 48026712: 48026712
58MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicGRCh37Chr 2, 48026718: 48026718
59MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
60MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicGRCh37Chr 2, 48026736: 48026737
61MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicGRCh37Chr 2, 48026750: 48026751
62MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
63MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
64MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
65MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
66MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
67MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicGRCh37Chr 2, 48026941: 48026941
68MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)single nucleotide variantPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
69MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicGRCh37Chr 2, 48026991: 48026991
70MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
71MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
72MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
73MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicGRCh37Chr 2, 48027172: 48027173
74MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)single nucleotide variantPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
75MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
76MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)single nucleotide variantPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
77MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48027249: 48027249
78MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
79MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)single nucleotide variantPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
80MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)single nucleotide variantPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
81MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48027452: 48027452
82MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
83MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicGRCh37Chr 2, 48027501: 48027502
84MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)single nucleotide variantPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
85MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicGRCh37Chr 2, 48027657: 48027657
86MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicGRCh37Chr 2, 48027691: 48027694
87MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
88MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicGRCh37Chr 2, 48027794: 48027796
89MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48027836: 48027836
90MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
91MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
92MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48027886: 48027886
93MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicGRCh37Chr 2, 48027887: 48027887
94MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
95MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)single nucleotide variantPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
96MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
97MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)single nucleotide variantPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
98MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicGRCh37Chr 2, 48028067: 48028067
99MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicGRCh37Chr 2, 48028098: 48028098
100MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
101MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
102MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)single nucleotide variantPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
103MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48028142: 48028142
104MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)single nucleotide variantPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
105MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)single nucleotide variantPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
106MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
107MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
108MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
109MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
110MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
111MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
112MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
113MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicGRCh37Chr 2, 48030645: 48030646
114MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
115MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
116MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicGRCh37Chr 2, 48030654: 48030660
117MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
118MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
119MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
120MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
121MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicGRCh37Chr 2, 48030727: 48030728
122MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)single nucleotide variantPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
123MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)single nucleotide variantPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
124MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenicGRCh37Chr 2, 48030772: 48030774
125MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
126MSH6NM_000179.2(MSH6): c.3439-2A> Gsingle nucleotide variantLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
127MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48032097: 48032097
128MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
129MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
130MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
131MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
132MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
133MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
134MSH6NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032756: 48034093
135MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicGRCh37Chr 2, 48032809: 48032812
136MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
137MSH6NM_000179.2(MSH6): c.3647-1G> Asingle nucleotide variantPathogenicGRCh37Chr 2, 48033342: 48033342
138MSH6NM_000179.2(MSH6): c.3647-2A> Csingle nucleotide variantPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
139MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
140MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicGRCh37Chr 2, 48033421: 48033433
141MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicGRCh37Chr 2, 48033425: 48033428
142MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicGRCh37Chr 2, 48033453: 48033454
143MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)single nucleotide variantPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
144MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)single nucleotide variantPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
145MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
146MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
147MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
148MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)single nucleotide variantPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
149MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
150MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
151MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
152MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicGRCh37Chr 2, 48033707: 48033707
153MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicGRCh37Chr 2, 48033709: 48033716
154MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
155MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
156MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
157MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
158MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicGRCh37Chr 2, 48033758: 48033768
159MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
160MSH6NM_000179.2(MSH6): c.3984_3987dupGTCA (p.Leu1330Valfs)duplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
161MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicGRCh37Chr 2, 48033785: 48033789
162MSH6NM_000179.2(MSH6): c.4001+2T> Csingle nucleotide variantPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
163MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)single nucleotide variantPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
164MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
165MSH6NM_000179.2(MSH6): c.457+2T> Asingle nucleotide variantPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
166MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
167MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
168MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
169MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
170MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48025764: 48025764
171MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh37Chr 2, 48025773: 48025773
172MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)single nucleotide variantPathogenicGRCh38Chr 2, 47798635: 47798635
173MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48025816: 48025816
174MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)single nucleotide variantPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
175MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicGRCh37Chr 2, 48025832: 48025832
176MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
177MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
178MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicGRCh37Chr 2, 48025860: 48025861
179MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)single nucleotide variantPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
180MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)single nucleotide variantPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
181MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
182MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)single nucleotide variantPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
183MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
184MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48026014: 48026014
185MLH1NM_000249.3: c.(?_-198)_116+(0_?)deldeletionPathogenic
186MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenic
187MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenic
188MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
189MLH1NM_000249.3(MLH1): c.-27C> Asingle nucleotide variantPathogenicGRCh37Chr 3, 37035012: 37035012
190MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
191MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
192MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
193MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
194MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
195MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicGRCh37Chr 3, 37061942: 37061942
196MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
197MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
198MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
199MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
200MLH1NM_000249.3(MLH1): c.1039-1G> Asingle nucleotide variantPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
201MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
202MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
203MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicGRCh37Chr 3, 37035142: 37035143
204MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicGRCh37Chr 3, 37067139: 37067139
205MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
206MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicGRCh37Chr 3, 37067160: 37067167
207MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicGRCh37Chr 3, 37067161: 37067161
208MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)single nucleotide variantPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
209MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh38Chr 3, 37025699: 37025699
210MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicGRCh37Chr 3, 37067217: 37067218
211MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)single nucleotide variantPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
212MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicGRCh37Chr 3, 37067221: 37067223
213MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)single nucleotide variantPathogenicGRCh37Chr 3, 37035151: 37035151
214MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicGRCh37Chr 3, 37067234: 37067234
215MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)single nucleotide variantPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
216MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
217MLH1NM_000249.3(MLH1): c.116+5G> Csingle nucleotide variantPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
218MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37067260: 37067260
219MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
220MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
221MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicGRCh37Chr 3, 37038112: 37038112
222MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
223MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicGRCh37Chr 3, 37067299: 37067299
224MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicGRCh37Chr 3, 37067306: 37067312
225MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicGRCh37Chr 3, 37067307: 37067307
226MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)single nucleotide variantPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
227MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)single nucleotide variantPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
228MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
229MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
230MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
231MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
232MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
233MLH1NM_000249.3: c.1325_1346del22ins5indelPathogenicGRCh37Chr 3, 37067414: 37067435
234MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
235MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
236MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicGRCh37Chr 3, 37067436: 37067456
237MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicGRCh37Chr 3, 37067437: 37067437
238MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
239MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicGRCh37Chr 3, 37067451: 37067451
240MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
241MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicGRCh37Chr 3, 37067466: 37067466
242MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
243MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicGRCh37Chr 3, 37067469: 37067470
244MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
245MLH1NM_000249.3(MLH1): c.1409+1G> Csingle nucleotide variantPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
246MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
247MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
248MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
249MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
250MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
251MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicGRCh37Chr 3, 37070280: 37070292
252MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
253MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37038135: 37038135
254MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicGRCh37Chr 3, 37070314: 37070314
255MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)single nucleotide variantPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
256MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37070327: 37070327
257MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
258MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicGRCh37Chr 3, 37070329: 37070333
259MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)single nucleotide variantPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
260MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
261MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
262MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
263MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
264MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicGRCh37Chr 3, 37070385: 37070385
265MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
266MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
267MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)single nucleotide variantPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
268MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicGRCh37Chr 3, 37038146: 37038146
269MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
270MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)single nucleotide variantPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
271MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicGRCh37Chr 3, 37070417: 37070418
272MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicGRCh37Chr 3, 37070417: 37070417
273MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
274MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicGRCh37Chr 3, 37070422: 37070423
275MLH1NM_000249.3(MLH1): c.1558+1G> Tsingle nucleotide variantPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
276MLH1NM_000249.3(MLH1): c.1559-1G> Tsingle nucleotide variantPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
277MLH1NM_000249.3(MLH1): c.1559-2A> Gsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
278MLH1NM_000249.3(MLH1): c.1559-2A> Tsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
279MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicGRCh37Chr 3, 37038148: 37038151
280MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicGRCh37Chr 3, 37038149: 37038149
281MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
282MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicGRCh37Chr 3, 37081690: 37081691
283MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
284MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37081692: 37081692
285MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionLikely pathogenicGRCh37Chr 3, 37081706: 37081708
286MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicGRCh37Chr 3, 37081710: 37081711
287MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
288MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)single nucleotide variantPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
289MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37081731: 37081731
290MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)single nucleotide variantPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
291MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicGRCh37Chr 3, 37038154: 37038157
292MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
293MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
294MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
295MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
296MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicGRCh37Chr 3, 37081757: 37081761
297MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)single nucleotide variantPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
298MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)single nucleotide variantPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
299MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
300MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)single nucleotide variantPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
301MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicGRCh37Chr 3, 37083759: 37083759
302MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
303MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
304MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)single nucleotide variantPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
305MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)single nucleotide variantPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
306MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
307MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
308MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
309MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
310MLH1NM_000249.3(MLH1): c.1731+1G> Asingle nucleotide variantPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
311MLH1NM_000249.3(MLH1): c.1731+5G> Asingle nucleotide variantPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
312MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)single nucleotide variantPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
313MLH1NM_000249.3(MLH1): c.1732-1G> Asingle nucleotide variantPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
314MLH1NM_000249.3(MLH1): c.1732-2A> Tsingle nucleotide variantPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
315MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
316MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicGRCh37Chr 3, 37089023: 37089023
317MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicGRCh37Chr 3, 37089026: 37089027
318MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
319MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
320MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
321MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicGRCh37Chr 3, 37038168: 37038168
322MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
323MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
324MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
325MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
326MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
327MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)single nucleotide variantPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
328MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicGRCh37Chr 3, 37089078: 37089096
329MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)single nucleotide variantPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
330MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
331MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicGRCh37Chr 3, 37089099: 37089099
332MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicGRCh37Chr 3, 37089107: 37089110
333MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
334MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
335MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)single nucleotide variantPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
336MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicGRCh37Chr 3, 37089131: 37089131
337MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
338MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicGRCh37Chr 3, 37089144: 37089144
339MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)single nucleotide variantPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
340MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
341MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
342MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicGRCh37Chr 3, 37089158: 37089161
343MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
344MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicGRCh37Chr 3, 37089171: 37089171
345MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)single nucleotide variantPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
346MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)single nucleotide variantPathogenicGRCh37Chr 3, 37038182: 37038182
347MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
348MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicGRCh37Chr 3, 37090013: 37090013
349MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicGRCh37Chr 3, 37090015: 37090015
350MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
351MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicGRCh37Chr 3, 37090024: 37090037
352MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicGRCh37Chr 3, 37090025: 37090053
353MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicGRCh37Chr 3, 37090027: 37090027
354MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
355MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicGRCh37Chr 3, 37090031: 37090032
356MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicGRCh37Chr 3, 37090041: 37090041
357MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
358MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
359MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
360MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
361MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)single nucleotide variantPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
362MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
363MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)single nucleotide variantPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
364MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
365MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
366MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
367MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
368MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
369MLH1NM_000249.3(MLH1): c.1989+1G> Asingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
370MLH1NM_000249.3(MLH1): c.1989+1G> Tsingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
371MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)single nucleotide variantPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
372MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicGRCh37Chr 3, 37038191: 37038191
373MLH1NM_000249.3(MLH1): c.1990-1G> Asingle nucleotide variantPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
374MLH1NM_000249.3(MLH1): c.1990-2A> Gsingle nucleotide variantPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
375MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
376MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
377MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
378MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
379MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
380MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
381MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)single nucleotide variantPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
382MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicGRCh37Chr 3, 37038194: 37038194
383MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37090440: 37090440
384MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)single nucleotide variantPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
385MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)single nucleotide variantPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
386MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
387MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
388MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
389MLH1NM_000249.3(MLH1): c.208-1G> Asingle nucleotide variantPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
390MLH1NM_000249.3(MLH1): c.208-2A> Gsingle nucleotide variantPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
391MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)single nucleotide variantPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
392MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
393MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37090498: 37090498
394MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
395MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)single nucleotide variantPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
396MLH1NM_000249.3(MLH1): c.2103+1G> Asingle nucleotide variantPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
397MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)single nucleotide variantPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
398MLH1NM_000249.3(MLH1): c.2104-2A> Tsingle nucleotide variantPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
399MLH1NM_000249.3: c.2104+(?_0)_*(193_?)deldeletionPathogenic
400MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
401MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicGRCh37Chr 3, 37091978: 37091987
402MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
403MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicGRCh37Chr 3, 37091984: 37091990
404MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
405MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
406MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
407MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
408MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
409MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicGRCh37Chr 3, 37092020: 37092021
410MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicGRCh37Chr 3, 37092022: 37092068
411MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
412MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
413MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicGRCh37Chr 3, 37092030: 37092030
414MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)single nucleotide variantPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
415MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
416MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicGRCh37Chr 3, 37092054: 37092055
417MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)single nucleotide variantPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
418MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
419MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicGRCh37Chr 3, 37092091: 37092091
420MLH1NM_000249.3: c.2221_2224delCTGCins30indelPathogenicGRCh37Chr 3, 37092094: 37092097
421MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
422MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37092097: 37092097
423MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
424MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)single nucleotide variantPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
425MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicGRCh37Chr 3, 37092139: 37092142
426MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
427MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)single nucleotide variantPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
428MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicGRCh37Chr 3, 37035060: 37035060
429MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
430MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
431MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicGRCh37Chr 3, 37042470: 37042470
432MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)single nucleotide variantPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
433MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
434MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)single nucleotide variantPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
435MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)single nucleotide variantPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
436MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
437MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)single nucleotide variantPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
438MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
439MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
440MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
441MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)single nucleotide variantPathogenicGRCh37Chr 3, 37042544: 37042544
442MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
443MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)single nucleotide variantPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
444MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
445MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
446MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
447MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
448MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
449MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicGRCh37Chr 3, 37045957: 37045958
450MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)single nucleotide variantPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
451MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
452MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37035075: 37035075
453MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
454MLH1NM_000249.3(MLH1): c.380+2T> Asingle nucleotide variantPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
455MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
456MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
457MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
458MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
459MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicGRCh37Chr 3, 37048489: 37048489
460MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicGRCh37Chr 3, 37048490: 37048490
461MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
462MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)single nucleotide variantPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
463MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)single nucleotide variantPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
464MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicGRCh37Chr 3, 37035077: 37035078
465MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicGRCh37Chr 3, 37048505: 37048508
466MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicGRCh37Chr 3, 37048521: 37048521
467MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
468MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
469MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)single nucleotide variantPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
470MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
471MLH1NM_000249.3(MLH1): c.453+2T> Csingle nucleotide variantPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
472MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)single nucleotide variantPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
473MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
474MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
475MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)single nucleotide variantPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
476MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicGRCh37Chr 3, 37050348: 37050348
477MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
478MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
479MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
480MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicGRCh37Chr 3, 37050375: 37050376
481MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
482MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
483MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
484MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)single nucleotide variantPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
485MLH1NM_000249.3(MLH1): c.545+3A> Gsingle nucleotide variantPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
486MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)single nucleotide variantPathogenicGRCh37Chr 3, 37050396: 37050396
487MLH1NM_000249.3(MLH1): c.546-2A> Csingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
488MLH1NM_000249.3(MLH1): c.546-2A> Gsingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
489MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)single nucleotide variantPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
490MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)single nucleotide variantPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
491MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
492MLH1NM_000249.3(MLH1): c.588+1G> Tsingle nucleotide variantPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
493MLH1NM_000249.3(MLH1): c.588+5G> Asingle nucleotide variantPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
494MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
495MLH1NM_000249.3(MLH1): c.589-2A> Gsingle nucleotide variantPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
496MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
497MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37035043: 37035043
498MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
499MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)single nucleotide variantPathogenicGRCh37Chr 3, 37035100: 37035100
500MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
501MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
502MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
503MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
504MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicGRCh37Chr 3, 37053585: 37053585
505MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
506MLH1NM_000249.3(MLH1): c.677+1G> Tsingle nucleotide variantPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
507MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
508MLH1NM_000249.3(MLH1): c.677+3A> Gsingle nucleotide variantPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
509MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)single nucleotide variantPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
510MLH1NM_000249.3(MLH1): c.678-1G> Csingle nucleotide variantPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
511MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)single nucleotide variantPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
512MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
513MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
514MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
515MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
516MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
517MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)single nucleotide variantPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
518MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicGRCh37Chr 3, 37055976: 37055979
519MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)single nucleotide variantPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
520MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
521MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
522MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
523MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
524MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)single nucleotide variantPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
525MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicGRCh37Chr 3, 37035116: 37035116
526MLH1NM_000249.3(MLH1): c.790+1G> Asingle nucleotide variantPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
527MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
528MLH1NM_000249.3(MLH1): c.790+2T> Csingle nucleotide variantPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
529MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
530MLH1NM_000249.3(MLH1): c.791-1G> Csingle nucleotide variantPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
531MLH1NM_000249.3(MLH1): c.791-2A> Gsingle nucleotide variantLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
532MLH1NM_000249.3(MLH1): c.791-5T> Gsingle nucleotide variantPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
533MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
534MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
535MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicGRCh37Chr 3, 37059017: 37059021
536MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
537MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)single nucleotide variantPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
538MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)single nucleotide variantPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
539MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)single nucleotide variantPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
540MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicGRCh37Chr 3, 37035122: 37035122
541MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)single nucleotide variantPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
542MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
543MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
544MLH1NM_000249.3(MLH1): c.85G> T (p.Ala29Ser)single nucleotide variantPathogenicrs63750656GRCh37Chr 3, 37035123: 37035123
545MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicGRCh37Chr 3, 37059066: 37059066
546MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
547MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicGRCh37Chr 3, 37059072: 37059073
548MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicGRCh37Chr 3, 37059072: 37059073
549MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)single nucleotide variantPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
550MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)single nucleotide variantPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
551MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
552MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
553MLH1NM_000249.3(MLH1): c.884+4A> Gsingle nucleotide variantPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
554MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
555MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)single nucleotide variantPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
556MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
557MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
558MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)single nucleotide variantPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
559MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)single nucleotide variantPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
560MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicGRCh37Chr 3, 37061817: 37061817
561MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
562MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicGRCh37Chr 3, 37061844: 37061844
563MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
564MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
565MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
566MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
567MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)single nucleotide variantPathogenicGRCh37Chr 3, 37061898: 37061898
568MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
569MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
570MSH2NM_000251.1: c.(?_-68)_(*272_?)deldeletionPathogenic
571MSH2NM_000251.1: c.(?_-68)_1076+?deldeletionPathogenic
572MSH2NM_000251.1: c.(?_-68)_1276+?deldeletionPathogenic
573MSH2NM_000251.1: c.(?_-68)_1386+?deldeletionPathogenic
574MSH2NM_000251.1: c.(?_-68)_1661+?deldeletionPathogenic
575MSH2NM_000251.1: c.(?_-68)_1759+?deldeletionPathogenic
576MSH2NM_000251.2: c.(?_-68)_211+(0_?)deldeletionPathogenic
577MSH2NM_000251.1: c.(?_-68)_2634+?deldeletionPathogenic
578MSH2NM_000251.1: c.(?_-68)_366+?deldeletionPathogenic
579MSH2NM_000251.1: c.(?_-68)_645+?deldeletionPathogenic
580MSH2NM_000251.1: c.(?_-68)_792+?deldeletionPathogenic
581MSH2NM_000251.1: c.(?_-68)_942+?deldeletionPathogenic
582MSH2NM_000251.1: c.-11844_1077-6021delins155indelPathogenic
583MSH2NM_000251.1: c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
584MSH2NM_000251.1: c.-35298_1276+5697deldeletionPathogenic
585MSH2NM_000251.1: c.-47156_1277-4980deldeletionPathogenic
586MSH2NM_000251.1: c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
587MSH2NM_000251.1: c.-75398_1759+1708deldeletionPathogenic
588MSH2NM_000251.1: c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
589MSH2NM_000251.1: c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
590MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47643492: 47643492
591MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicGRCh37Chr 2, 47643499: 47643499
592MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
593MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)single nucleotide variantPathogenicGRCh37Chr 2, 47643505: 47643505
594MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
595MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicGRCh37Chr 2, 47643510: 47643510
596MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
597MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
598MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
599MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicGRCh37Chr 2, 47643538: 47643538
600MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicGRCh37Chr 2, 47643551: 47643551
601MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47643567: 47643567
602MSH2NM_000251.2(MSH2): c.1076+1G> Asingle nucleotide variantPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
603MSH2NM_000251.2: c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
604MSH2NM_000251.2: c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
605MSH2NM_000251.1: c.1077-?_(*272_?)deldeletionPathogenic
606MSH2NM_000251.2: c.1077+(?_0)_1276+(0_?)del200deletionPathogenic
607MSH2NM_000251.2: c.1077+(?_0)_1276+(0_?)dup200duplicationPathogenic
608MSH2NM_000251.1: c.1077-?_1386+?deldeletionPathogenic
609MSH2NM_000251.1: c.1077-?_1661+?deldeletionPathogenic
610MSH2NM_000251.1: c.1077-?_2005+?deldeletionPathogenic
611MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)single nucleotide variantPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
612MSH2NM_000251.2: c.1077_1078ins173insertionPathogenicGRCh37Chr 2, 47656881: 47656882
613MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
614MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicGRCh37Chr 2, 47656903: 47656903
615MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
616MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
617MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
618MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)single nucleotide variantPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
619MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
620MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
621MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
622MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
623MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)single nucleotide variantPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
624MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47656969: 47656969
625MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)single nucleotide variantPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
626MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
627MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
628MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
629MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
630MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
631MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)single nucleotide variantPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
632MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
633MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)single nucleotide variantPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
634MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
635MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicGRCh37Chr 2, 47657025: 47657026
636MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
637MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
638MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
639MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicGRCh37Chr 2, 47657053: 47657057
640MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
641MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)single nucleotide variantPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
642MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)single nucleotide variantPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
643MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
644MSH2NM_000251.2(MSH2): c.1276+1G> Asingle nucleotide variantPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
645MSH2NM_000251.1: c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
646MSH2NM_000251.2(MSH2): c.1277-2A> Gsingle nucleotide variantPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
647MSH2NM_000251.2: c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
648MSH2NM_000251.1: c.1277-?_(*272_?)deldeletionPathogenic
649MSH2NM_000251.1: c.1277-?_(*272_?)invundetermined variantPathogenic
650MSH2NM_000251.2: c.1277+(?_0)_1386+(0_?)del110deletionPathogenic
651MSH2NM_000251.1: c.1277-?_1661+?deldeletionPathogenic
652MSH2NM_000251.1: c.1277-?_1759+?deldeletionPathogenic
653MSH2NM_000251.1: c.1277-?_2634+?deldeletionPathogenic
654MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)single nucleotide variantPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
655MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
656MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)single nucleotide variantPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
657MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)single nucleotide variantPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
658MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)single nucleotide variantPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
659MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
660MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicGRCh37Chr 2, 47672728: 47672729
661MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)single nucleotide variantPathogenicGRCh37Chr 2, 47672729: 47672729
662MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
663MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
664MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)single nucleotide variantPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
665MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
666MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
667MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)single nucleotide variantPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
668MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)single nucleotide variantPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
669MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
670MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)single nucleotide variantPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
671MSH2NM_000251.1: c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
672MSH2NM_000251.1: c.1387-?_(*272_?)deldeletionPathogenic
673MSH2NM_000251.2: c.1387+(?_0)_1510+(0_?)del124deletionPathogenic
674MSH2NM_000251.1: c.1387-?_1661+?deldeletionPathogenic
675MSH2NM_000251.1: c.1387-?_1661+?dupduplicationPathogenic
676MSH2NM_000251.1: c.1387-?_2458+?deldeletionPathogenic
677MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicGRCh37Chr 2, 47690173: 47690173
678MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47690182: 47690182
679MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
680MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)single nucleotide variantPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
681MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)single nucleotide variantPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
682MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicGRCh37Chr 2, 47690216: 47690217
683MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47690227: 47690227
684MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
685MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
686MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
687MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)single nucleotide variantPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
688MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
689MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicGRCh37Chr 2, 47690240: 47690243
690MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
691MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
692MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
693MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
694MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
695MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47690270: 47690270
696MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
697MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
698MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicGRCh37Chr 2, 47690283: 47690283
699MSH2NM_000251.2(MSH2): c.1511-2A> Gsingle nucleotide variantPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
700MSH2NM_000251.1: c.1511-?_2005+?deldeletionPathogenic
701MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47693814: 47693814
702MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
703MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)single nucleotide variantPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
704MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
705MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)single nucleotide variantPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
706MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
707MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
708MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
709MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
710MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
711MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
712MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
713MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
714MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
715MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)single nucleotide variantPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
716MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
717MSH2NM_000251.1: c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
718MSH2NM_000251.1: c.1662-?_(*272_?)deldeletionPathogenic
719MSH2NM_000251.2: c.1662+(?_0)_1759+(0_?)del98deletionPathogenic
720MSH2NM_000251.1: c.1662-?_2458+?deldeletionPathogenic
721MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
722MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
723MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicGRCh37Chr 2, 47698109: 47698109
724MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47630496: 47630496
725MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
726MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
727MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
728MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicGRCh37Chr 2, 47698129: 47698129
729MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47698135: 47698135
730MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
731MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)single nucleotide variantPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
732MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
733MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicGRCh37Chr 2, 47698144: 47698144
734MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
735MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicGRCh37Chr 2, 47698147: 47698148
736MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
737MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)single nucleotide variantPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
738MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
739MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
740MSH2NM_000251.2(MSH2): c.1759+2T> Asingle nucleotide variantPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
741MSH2NM_000251.1: c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
742MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)single nucleotide variantPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
743MSH2NM_000251.1: c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
744MSH2NM_000251.1: c.1760-?_(*272_?)deldeletionPathogenic
745MSH2NM_000251.2: c.1760+(?_0)_2005+(0_?)del246deletionPathogenic
746MSH2NM_000251.1: c.1760-?_2210+?deldeletionPathogenic
747MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
748MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)single nucleotide variantPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
749MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
750MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)single nucleotide variantPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
751MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
752MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
753MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicGRCh37Chr 2, 47702191: 47702191
754MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
755MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
756MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)single nucleotide variantPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
757MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicGRCh37Chr 2, 47702231: 47702231
758MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)single nucleotide variantPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
759MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
760MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)single nucleotide variantPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
761MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
762MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
763MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
764MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
765MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
766MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)single nucleotide variantPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
767MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
768MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicGRCh37Chr 2, 47702301: 47702301
769MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
770MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicGRCh37Chr 2, 47702328: 47702329
771MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicGRCh37Chr 2, 47702371: 47702374
772MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)single nucleotide variantPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
773MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicGRCh37Chr 2, 47702384: 47702385
774MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicGRCh37Chr 2, 47702386: 47702389
775MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicGRCh37Chr 2, 47702388: 47702389
776MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicGRCh37Chr 2, 47702390: 47702391
777MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
778MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
779MSH2NM_000251.2(MSH2): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs267607911GRCh37Chr 2, 47630331: 47630331
780MSH2NM_000251.2(MSH2): c.2005+2T> Csingle nucleotide variantPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
781MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenicrs267607990GRCh37Chr 2, 47703501: 47703501
782MSH2NM_000251.2: c.2006+(?_0)_2210+(0_?)del205deletionPathogenic
783MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)single nucleotide variantPathogenicGRCh37Chr 2, 47703506: 47703506
784MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
785MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
786MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
787MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicGRCh37Chr 2, 47703535: 47703536
788MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicGRCh37Chr 2, 47703546: 47703547
789MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)single nucleotide variantPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
790MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
791MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
792MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)single nucleotide variantPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
793MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
794MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicGRCh37Chr 2, 47703574: 47703581
795MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)single nucleotide variantPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
796MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)single nucleotide variantPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
797MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)single nucleotide variantPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
798MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)single nucleotide variantPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
799MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47703596: 47703596
800MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
801MSH2NM_000251.1: c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
802MSH2NM_000251.2(MSH2): c.212-1G> Asingle nucleotide variantPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
803MSH2NM_000251.2(MSH2): c.212-478T> Gsingle nucleotide variantPathogenicGRCh37Chr 2, 47635062: 47635062
804MSH2NM_000251.1: c.212-?_1076+?deldeletionPathogenic
805MSH2NM_000251.1: c.212-?_1276+?deldeletionPathogenic
806MSH2NM_000251.1: c.212-?_1386+?deldeletionPathogenic
807MSH2NM_000251.1: c.212-?_1510+?deldeletionPathogenic
808MSH2NM_000251.1: c.212-?_2458+?deldeletionPathogenic
809MSH2NM_000251.2: c.212+(?_0)_366+(0_?)del155deletionPathogenic
810MSH2NM_000251.1: c.212-?_645+?deldeletionPathogenic
811MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
812MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
813MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
814MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47703652: 47703652
815MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
816MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicGRCh37Chr 2, 47703667: 47703667
817MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)single nucleotide variantPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
818MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicGRCh37Chr 2, 47630351: 47630351
819MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
820MSH2NM_000251.1: c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
821MSH2NM_000251.2: c.2211+(?_0)_2458+(0_?)del248deletionPathogenic
822MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
823MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
824MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
825MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)single nucleotide variantPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
826MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
827MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
828MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
829MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)single nucleotide variantPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
830MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
831MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)single nucleotide variantPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
832MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)single nucleotide variantPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
833MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
834MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47705491: 47705491
835MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)single nucleotide variantPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
836MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
837MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
838MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
839MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
840MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)single nucleotide variantPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
841MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
842MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
843MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
844MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicGRCh37Chr 2, 47705561: 47705561
845MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
846MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
847MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
848MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicGRCh37Chr 2, 47705618: 47705618
849MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)single nucleotide variantPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
850MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
851MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)single nucleotide variantPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
852MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)single nucleotide variantPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
853MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47635572: 47635572
854MSH2NM_000251.1: c.2459-?_(*272_?)deldeletionPathogenic
855MSH2NM_000251.2: c.2459+(?_0)_2634+(0_?)del176deletionPathogenic
856MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
857MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
858MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicGRCh37Chr 2, 47707861: 47707874
859MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
860MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
861MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
862MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicGRCh37Chr 2, 47707897: 47707897
863MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicGRCh37Chr 2, 47707901: 47707902
864MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
865MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)single nucleotide variantPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
866MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicGRCh37Chr 2, 47707921: 47707921
867MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
868MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
869MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)single nucleotide variantPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
870MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
871MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)single nucleotide variantPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
872MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicGRCh37Chr 2, 47707969: 47707973
873MSH2NM_000251.2: c.2620_2621ins115insertionPathogenicGRCh37Chr 2, 47707996: 47707997
874MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47707998: 47707998
875MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
876MSH2NM_000251.2(MSH2): c.2634+5G> Csingle nucleotide variantPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
877MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)single nucleotide variantPathogenicGRCh37Chr 2, 47708010: 47708010
878MSH2NM_000251.2: c.2635+(?_0)_*(272_?)deldeletionPathogenic
879MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
880MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
881MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
882MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
883MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)single nucleotide variantPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
884MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
885MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
886MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47710068: 47710068
887MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
888MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)single nucleotide variantPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
889MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)single nucleotide variantPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
890MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
891MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
892MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
893MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
894MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
895MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicGRCh37Chr 2, 47635680: 47635680
896MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)single nucleotide variantPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
897MSH2NM_000251.1: c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
898MSH2NM_000251.1: c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
899MSH2NM_000251.2: c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
900MSH2NM_000251.1: c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
901MSH2NM_000251.1: c.367-?_1076+?deldeletionPathogenic
902MSH2NM_000251.1: c.367-?_1276+?deldeletionPathogenic
903MSH2NM_000251.1: c.367-?_1386+?deldeletionPathogenic
904MSH2NM_000251.1: c.367-?_1759+?deldeletionPathogenic
905MSH2NM_000251.2: c.367+(?_0)_645+(0_?)del279deletionPathogenic
906MSH2NM_000251.1: c.367-?_942+?deldeletionPathogenic
907MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
908MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
909MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
910MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
911MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
912MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
913MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
914MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)single nucleotide variantPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
915MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
916MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
917MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
918MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)single nucleotide variantPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
919MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)single nucleotide variantPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
920MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
921MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
922MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
923MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
924MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
925MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicGRCh37Chr 2, 47637394: 47637395
926MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)single nucleotide variantPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
927MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
928MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)single nucleotide variantPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
929MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
930MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
931MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
932MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicGRCh37Chr 2, 47637437: 47637439
933MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
934MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
935MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
936MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)single nucleotide variantPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
937MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)single nucleotide variantPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
938MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
939MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
940MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
941MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
942MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
943MSH2NM_000251.2(MSH2): c.645+1G> Asingle nucleotide variantPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
944MSH2NM_000251.1: c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
945MSH2NM_000251.1: c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
946MSH2NM_000251.1: c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
947MSH2NM_000251.2(MSH2): c.646-3T> Gsingle nucleotide variantPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
948MSH2NM_000251.1: c.646-?_(*272_?)deldeletionPathogenic
949MSH2NM_000251.1: c.646-?_1076+?deldeletionPathogenic
950MSH2NM_000251.1: c.646-?_1276+?deldeletionPathogenic
951MSH2NM_000251.1: c.646-?_1386+?deldeletionPathogenic
952MSH2NM_000251.2: c.646+(?_0)_792+(0_?)del147deletionPathogenic
953MSH2NM_000251.1: c.646-?_942+?deldeletionPathogenic
954MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
955MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47639559: 47639559
956MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicGRCh37Chr 2, 47639582: 47639586
957MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47639592: 47639592
958MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
959MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
960MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicGRCh37Chr 2, 47639598: 47639598
961MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
962MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
963MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
964MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
965MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
966MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
967MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicGRCh37Chr 2, 47630401: 47630401
968MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicGRCh37Chr 2, 47639632: 47639632
969MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
970MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)single nucleotide variantPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
971MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicGRCh37Chr 2, 47630403: 47630404
972MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
973MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
974MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
975MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
976MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicGRCh37Chr 2, 47639668: 47639668
977MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
978MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicGRCh37Chr 2, 47639674: 47639675
979MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
980MSH2NM_000251.2(MSH2): c.792+1G> Asingle nucleotide variantPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
981MSH2NM_000251.1: c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
982MSH2NM_000251.2: c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
983MSH2NM_000251.1: c.793-?_1076+?deldeletionPathogenic
984MSH2NM_000251.1: c.793-?_1276+?deldeletionPathogenic
985MSH2NM_000251.1: c.793-?_1386+?deldeletionPathogenic
986MSH2NM_000251.2: c.793+(?_0)_942+(0_?)del150deletionPathogenic
987MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
988MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
989MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicGRCh37Chr 2, 47641426: 47641429
990MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
991MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicGRCh37Chr 2, 47630412: 47630412
992MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
993MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
994MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47641457: 47641457
995MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
996MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)single nucleotide variantPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
997MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)single nucleotide variantPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
998MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicGRCh37Chr 2, 47641478: 47641478
999MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)single nucleotide variantPathogenicGRCh37Chr 2, 47641483: 47641483
1000MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicGRCh37Chr 2, 47641488: 47641491
1001MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1002MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicGRCh37Chr 2, 47641503: 47641503
1003MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1004MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1005MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)single nucleotide variantPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1006MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)single nucleotide variantPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1007MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1008MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)single nucleotide variantPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1009MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)single nucleotide variantPathogenicGRCh37Chr 2, 47641557: 47641557
1010MSH2NM_000251.1: c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1011MSH2NM_000251.2: c.943+(?_0)_1076+(0_?)del134deletionPathogenic
1012MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1013MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1014MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)single nucleotide variantPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1015MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh38Chr 2, 47416323: 47416324
1016MSH2NM_000251.2: c.970_971ins4insertionPathogenicGRCh37Chr 2, 47643462: 47643463
1017MSH2NM_000251.1: c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenic
1018MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1019PMS2NM_000535.5: c.(?_-87)_23+(0_?)deldeletionPathogenic
1020PMS2NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh37Chr 7, 6029554: 6029554
1021PMS2NM_000535.5(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1022PMS2NM_000535.5(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicGRCh37Chr 7, 6029462: 6029463
1023PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1024PMS2NM_000535.5(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicGRCh37Chr 7, 6026666: 6026666
1025PMS2NM_000535.5(PMS2): c.1738A> T (p.Lys580Ter)single nucleotide variantPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1026PMS2NM_000535.5(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1027PMS2NM_000535.5(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1028PMS2NM_000535.5(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1029PMS2NM_000535.5(PMS2): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1030PMS2NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1031PMS2NM_000535.5(PMS2): c.1939A> T (p.Lys647Ter)single nucleotide variantPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1032PMS2NM_000535.5(PMS2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr 7, 6048650: 6048650
1033PMS2NM_000535.5(PMS2): c.2113G> A (p.Glu705Lys)single nucleotide variantPathogenicrs267608161GRCh37Chr 7, 6022516: 6022516
1034PMS2NM_000535.5(PMS2): c.2174+1G> Asingle nucleotide variantPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1035PMS2NM_000535.5(PMS2): c.2186_2187delTC (p.Leu729Glnfs)deletionPathogenicGRCh37Chr 7, 6018315: 6018316
1036PMS2NM_000535.5(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1037PMS2NM_000535.5(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicGRCh37Chr 7, 6043633: 6043634
1038PMS2NM_000535.5(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1039PMS2NM_000535.5(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1040PMS2NM_000535.5(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh38Chr 7, 5999270: 5999270
1041PMS2NM_000535.5(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1042PMS2NM_000535.5(PMS2): c.697C> T (p.Gln233Ter)single nucleotide variantPathogenicGRCh37Chr 7, 6038747: 6038747
1043PMS2NM_000535.5(PMS2): c.703C> T (p.Gln235Ter)single nucleotide variantPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1044PMS2NM_000535.5(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1045PMS2NM_000535.5(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicGRCh37Chr 7, 6036980: 6036980
1046PMS2NM_000535.5(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1047PMS2NM_000535.5(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1048PMS2NM_000535.5(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1049PMS2NM_000535.5(PMS2): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicGRCh37Chr 7, 6031649: 6031649
1050PMS2NM_000535.5(PMS2): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1051PMS2NM_000535.5(PMS2): c.989-2A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr 7, 6029588: 6029588
1052PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1053PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicGRCh37Chr 7, 6027175: 6027175
1054PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1055PMS2NM_000535.5(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1056PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549

Expression for genes affiliated with Lynch Syndrome

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Expression patterns in normal tissues for genes affiliated with Lynch Syndrome

Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for genes affiliated with Lynch Syndrome

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Pathways related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Catalytic cycle of mammalian FMOs37
10.0MSH2, MLH1
2
Show member pathways
10.0MSH2, MLH1
3
Show member pathways
9.9BRCA1, BRCA2
4
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.7BRCA1, MSH6, MSH2
5
Show member pathways
Non-homologous end joining37
DNA damage NHEJ mechanisms of DSBs repair60
9.5LIG4, BRCA1
6
Show member pathways
9.4MSH2, MSH6, BRCA1, BRCA2
79.4BRCA1, BRCA2, PMS2, MLH1
8
Show member pathways
Homologous recombination37
9.4XRCC2, BRCA2
99.3APC, BRCA2, BRCA1
10
Show member pathways
9.3MLH3, MLH1, BRCA2, BRCA1
11
Show member pathways
9.2LIG4, BRCA1, BRCA2
129.2MLH1, PMS2, APC, MSH2
13
Show member pathways
Signaling Pathways in Glioblastoma37
9.2MSH6, BRAF, BRCA1, BRCA2
149.1MLH1, BRCA2, BRCA1, MSH6, MSH2
158.9BRCA2, BRCA1, BRAF, MSH6, MSH2
16
Show member pathways
Signal transduction PTEN pathway60
8.8MLH1, APC, BRAF, MSH6, MSH2
178.8MLH1, APC, BRAF, MSH6, MSH2
18
Show member pathways
8.8BRCA2, BRCA1, MUTYH, LIG4
19
Show member pathways
8.7BRCA2, BRCA1, LIG4, MSH6, MSH2
20
Show member pathways
8.7MLH1, BRCA2, BRCA1, MUTYH, MSH6, MSH2
218.5MLH1, APC, BRCA2, BRAF, MSH6, MSH2
22
Show member pathways
8.5MSH2, MSH6, BRCA1, PMS1, PMS2, MLH1

Compounds for genes affiliated with Lynch Syndrome

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Compounds related to Lynch Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
16 thioguanine4410.2MSH2, MLH1
2n-methyl-n-nitrosourea4410.2MLH1, MSH6, MSH2
3mhs-24410.1PMS1, PMS2, MLH1
4temozolomide44 1111.1MSH2, MLH1
5carboplatin44 50 1112.0MLH1, BRCA1, MSH2
6daidzein4410.0BRCA1, BRCA2
7thymidylate4410.0MLH1, BRCA1, MSH2
8biotin44 24 1111.9MSH2, MSH6, PMS2, MLH1
9af/ap449.9MUTYH, APC
10mnng449.9MLH1, APC, MSH2
117,12-dimethylbenz(a)anthracene449.9APC, BRCA2
12p00001449.8BRAF, MLH1
13sodium bisulfite449.8BRCA1, APC, MLH1
145-methylcytosine44 2410.8MLH1, APC, BRCA1
15doxorubicin44 50 1111.8MLH1, BRCA1, MSH6, MSH2
16lycopene44 2410.8BRCA2, BRCA1
17cytosine44 2410.8MLH1, APC, BRCA1
18gold449.7BRAF, BRCA1, BRCA2
19methylmethanesulfonate449.7APC, BRCA2, BRCA1
205fluorouracil449.7MSH2, EPCAM, BRCA1, MLH1
21p003449.7MLH1, BRCA2, BRCA1, EPCAM
22proline449.7MSH2, BRCA1, BRCA2, MLH1
23mononucleotide449.7MLH1, APC, MSH6, MSH2
24p002449.6BRAF, BRCA1, BRCA2, MLH1
25paclitaxel44 50 1111.6BRAF, BRCA1, BRCA2, MLH1
265-aza-2deoxycytidine449.5MLH1, PMS1, APC, BRCA1
27thymidine44 2410.5EPCAM, BRCA1, BRCA2, MLH1
28folate449.5MLH1, APC, BRCA2, BRCA1
29polyacrylamide449.5MLH1, APC, BRCA2, BRCA1
30mitomycin c449.4BRCA2, BRCA1, XRCC2
318-oxoguanine449.3APC, BRCA2, BRCA1, MUTYH
32fatty acid449.3MLH1, APC, BRCA1, BRAF
33h2o2449.2MLH1, BRCA2, BRCA1, MUTYH
34camptothecin44 61 1111.2MLH1, BRCA2, BRCA1, XRCC2
35guanine44 24 1111.2MUTYH, BRCA1, APC
36progesterone44 28 61 24 1113.1MLH1, APC, BRCA2, BRCA1, BRAF
37crcs449.0MLH1, PMS2, APC, BRAF, MSH6, MSH2
38atp44 2810.0MLH1, BRCA1, BRAF, RNASEL, MSH2
39cycloheximide449.0APC, BRCA2, BRCA1, RNASEL
40oxygen44 2410.0MLH1, PMS2, BRCA1, RNASEL, MUTYH
41alanine449.0MSH2, LIG4, BRAF, BRCA1, MLH1
42estrogen449.0MLH1, APC, BRCA2, BRCA1, BRAF
43o6-methylguanine449.0MSH2, MLH1, APC, BRCA2, BRAF, MSH6
44retinoic acid44 2410.0MLH1, APC, BRCA2, BRCA1, BRAF
45oligonucleotide448.8APC, BRCA2, BRCA1, BRAF, RNASEL
46phosphatidylinositol448.7LIG4, BRAF, BRCA1, BRCA2, APC
47testosterone44 61 24 1111.5RNASEL, BRCA1, BRCA2, APC
48adenine44 24 1110.2MLH1, APC, BRCA1, BRAF, RNASEL, MUTYH
49paraffin448.0MLH1, PMS2, APC, BRCA2, BRCA1, BRAF
50cisplatin44 50 61 1110.9MLH1, BRCA2, BRCA1, BRAF, MUTYH, MSH6

GO Terms for genes affiliated with Lynch Syndrome

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Cellular components related to Lynch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.0MSH6, MSH2
2MutLbeta complexGO:03239010.0MLH3, MLH1
3nuclear chromosomeGO:00022810.0MSH2, MSH6
4chiasmaGO:0057129.9MLH3, MLH1
5MutLalpha complexGO:0323899.9MLH1, PMS2, PMS1
6male germ cell nucleusGO:0016739.8MLH1, MLH3
7synaptonemal complexGO:0007959.6MLH1, MLH3
8mismatch repair complexGO:0323009.5PMS1, PMS2, MLH1, MLH3
9nucleusGO:0056346.6MLH3, MLH1, PMS2, PMS1, APC, BRCA2

Biological processes related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.3MSH2, MSH6
2maintenance of DNA repeat elementsGO:04357010.2MSH6, MSH2
3positive regulation of helicase activityGO:05109610.2MSH2, MSH6
4negative regulation of DNA recombinationGO:04591010.2MSH6, MSH2
5determination of adult lifespanGO:00834010.2MSH2, MSH6
6postreplication repairGO:00630110.1BRCA1, MSH2
7somatic recombination of immunoglobulin gene segmentsGO:01644710.0MSH2, MSH6, PMS2
8DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0BRCA2, BRCA1
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00863010.0MLH1, BRCA1, MSH6
10intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.9MSH2, BRCA2
11somatic hypermutation of immunoglobulin genesGO:0164469.8MSH2, MSH6, PMS2, MLH1
12double-strand break repair via nonhomologous end joiningGO:0063039.8LIG4, MLH1
13isotype switchingGO:0451909.5MLH1, LIG4, MSH6, MSH2
14reciprocal meiotic recombinationGO:0071319.5MLH3, MLH1, PMS2, PMS1, MSH6
15chromosome organizationGO:0512769.4LIG4, APC
16somatic stem cell maintenanceGO:0350199.3LIG4, APC
17double-strand break repair via homologous recombinationGO:0007249.3XRCC2, BRCA1, BRCA2
18double-strand break repairGO:0063029.3BRCA2, BRCA1, LIG4, MSH2
19ATP catabolic processGO:0062009.2MLH3, MLH1, PMS2, PMS1, MSH6, MSH2
20positive regulation of neurogenesisGO:0507699.1LIG4, XRCC2
21response to gamma radiationGO:0103329.0XRCC2, LIG4, BRCA2
22T cell differentiation in thymusGO:0330779.0LIG4, APC
23response to X-rayGO:0101658.8BRCA2, LIG4, MSH2, XRCC2
24mismatch repairGO:0062988.7MSH2, MSH6, MUTYH, PMS1, PMS2, MLH1
25negative regulation of neuron apoptotic processGO:0435248.7BRAF, LIG4, MSH2, XRCC2
26in utero embryonic developmentGO:0017018.7LIG4, MSH2, XRCC2
27DNA repairGO:0062817.8BRCA2, BRCA1, MUTYH, LIG4, MSH6, MSH2

Molecular functions related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.0MSH2, MSH6
2oxidized purine DNA bindingGO:03235710.0MSH6, MSH2
3ADP bindingGO:04353110.0MSH2, MSH6
4guanine/thymine mispair bindingGO:03213710.0MLH1, MSH6, MSH2
5single guanine insertion bindingGO:0321429.9MSH6, MSH2
6MutLalpha complex bindingGO:0324059.7MSH2, MSH6, MUTYH
7mismatched DNA bindingGO:0309839.6MLH3, PMS1, MSH6, MSH2
8centromeric DNA bindingGO:0192379.5MSH2, MLH3
9four-way junction DNA bindingGO:0004009.3MSH6, MSH2, XRCC2
10DNA-dependent ATPase activityGO:0080949.3XRCC2, MSH2, MSH6
11MutSalpha complex bindingGO:0324079.2MUTYH, PMS1, PMS2, MLH1, MLH3
12ATPase activityGO:0168879.1MLH3, MLH1, PMS2, PMS1, MSH6, MSH2
13single-stranded DNA bindingGO:0036979.0MLH3, MLH1, PMS2, PMS1, BRCA2, MSH2
14ATP bindingGO:0055246.7MLH3, MLH1, PMS2, PMS1, BRAF, RNASEL
15protein bindingGO:0055155.0MLH3, MLH1, PMS2, APC, BRCA2, BRCA1

Products for genes affiliated with Lynch Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lynch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet