MCID: LYN001
MIFTS: 69

Lynch Syndrome malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Lynch Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lynch Syndrome:

Name: Lynch Syndrome 11 23 48 24 25 54 27 50 13
Hereditary Nonpolyposis Colorectal Cancer 11 48 25 68
Hnpcc 23 48 24 25
Hereditary Nonpolyposis Colorectal Neoplasms 25 68
Colorectal Cancer, Hereditary Nonpolyposis 48 27
Hereditary Non-Polyposis Colon Cancer 23 24
Familial Nonpolyposis Colon Cancer 48 25
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 68
Hereditary Defective Mismatch Repair Syndrome 11
Colorectal Neoplasms, Hereditary Nonpolyposis 39
 
Hereditary Non-Polyposis Colon Cancer Type 1 11
Hnpcc - Hereditary Nonpolyposis Colon Cancer 11
Hereditary Nonpolyposis Colorectal Neoplasm 11
Hereditary Nonpolyposis Colon Cancer 50
Colon Cancer, Familial Nonpolyposis 48
Cancer Family Syndrome 25
Lynch Syndrome 2 48
Lynch Syndrome 1 48
Coca 1 11
Coca1 48

Characteristics:

Orphanet epidemiological data:

54
lynch syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult

GeneReviews:

23
Penetrance: penetrance of colon cancer associated with mutation of an mmr gene or epcam is less than 100% (see table 4). therefore, some individuals with a cancer-predisposing pathogenic variant in one of the mmr genes never develop colon cancer...


Classifications:



External Ids:

Disease Ontology11 DOID:3883
MeSH39 D003123
Orphanet54 ORPHA144
SNOMED-CT62 315058005
ICD10 via Orphanet31 D48.9
MESH via Orphanet40 D003123
UMLS via Orphanet69 C1333990

Summaries for Lynch Syndrome

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Genetics Home Reference:25 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 muir-torre syndrome and mismatch repair cancer syndrome, and has symptoms including weight loss, anemia and constipation. An important gene associated with Lynch Syndrome is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include colon, testes and brain, and related mouse phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and Decreased viability.

Disease Ontology:11 An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has material basis in mutation of mismatch repair genes that increases the risk of many types of cancers.

NIH Rare Diseases:48 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:71 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic... more...

GeneReviews for NBK1211

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 Suite gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome32.8MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
2mismatch repair cancer syndrome32.7APC, MLH1, MSH2, MSH6, PMS1, PMS2
3prostate cancer29.7BRCA1, BRCA2, KRAS, MSH2, MSH6, PIK3CA
4breast cancer29.4APC, BRCA1, BRCA2, EPCAM, KRAS, MLH1
5hepatocellular carcinoma29.0APC, EPCAM, MSH2, PIK3CA, TGFBR2, TP53
6colorectal cancer28.7APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
7tgbfr2-related lynch syndrome11.8
8mlh3-related lynch syndrome11.8
9mlh1-related lynch syndrome11.7
10msh2-related lynch syndrome11.7
11msh6-related lynch syndrome11.7
12pms2-related lynch syndrome11.7
13epcam-related lynch syndrome11.7
14pms1-related lynch syndrome11.7
15colorectal cancer, hereditary nonpolyposis, type 111.7
16congenital pulmonary veins atresia or stenosis10.9BRCA1, BRCA2
17spleen angiosarcoma10.9MLH1, MSH2, MSH6
18solitary bone cyst10.9MLH1, MSH2, MSH6
19large intestine adenocarcinoma10.9MLH1, MSH2, MSH6, PMS2
20ampulla of vater squamous cell carcinoma10.9APC, MLH1, TP53
21sleeping sickness10.9MLH1, MSH3, MSH6
22cecum lymphoma10.9MSH2, MUTYH, PMS1
23familial breast cancer10.9APC, BRCA1, BRCA2
24breast cancer, childhood10.9APC, BRCA1, BRCA2
25bronchopulmonary dysplasia10.9BRCA1, BRCA2
26cervical serous adenocarcinoma10.9BRCA1, BRCA2, TP53
27food allergy10.9MLH1, MSH2, MSH6, PMS1
28cutaneous lupus erythematosus10.9BRCA1, BRCA2
29autoimmune disease of blood10.9BRCA1, BRCA2
30neurofibromatosis-noonan syndrome10.9MLH1, MSH2, MSH6, PMS2
31ovarian brenner tumor10.9BRCA1, BRCA2, TP53
32selective ige deficiency disease10.9BRCA1, BRCA2
33acute perichondritis of pinna10.8MSH2, PMS1
34in situ carcinoma10.8MLH1, MSH2, MSH6, PMS2
35mediastinum teratoma10.8BRAF, KRAS, TP53
36leiomyosarcoma10.8BRCA1, BRCA2, TP53
37learning disability10.8BRAF, MLH1, TP53
38distal monosomy 9p10.8BRCA1, BRCA2, TP53
39mucinous adenocarcinoma10.8APC, BRCA2, TP53
40myasthenia gravis, limb-girdle10.8BRCA1, BRCA2, TP53
41ductal carcinoma in situ10.8BRCA1, BRCA2, TP53
42optic papillitis10.8KRAS, MLH1, MSH2, MSH6
43pasli disease10.8MSH2, TP53
44hemangioma of lung10.8EPCAM, KRAS, TP53
45pleomorphic xanthoastrocytoma10.8BRAF, TP53
46milker's nodule10.8BRCA1, BRCA2, TP53
47duodenum cancer10.8
48lung carcinoma in situ10.8BRCA1, BRCA2, TP53
49prostate embryonal rhabdomyosarcoma10.8MSH2, MSH6, PMS2, TP53
50prostate cancer, hereditary, x-linked 110.8BRAF, MSH2, TP53

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



Diseases related to lynch syndrome

Symptoms & Phenotypes for Lynch Syndrome

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Human phenotypes related to Lynch Syndrome:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 weight loss64 hallmark (90%) HP:0001824
2 anemia64 hallmark (90%) HP:0001903
3 constipation64 hallmark (90%) HP:0002019
4 malabsorption64 hallmark (90%) HP:0002024
5 gastrointestinal hemorrhage64 hallmark (90%) HP:0002239
6 intestinal obstruction64 hallmark (90%) HP:0005214
7 neoplasm of the colon64 hallmark (90%) HP:0100273
8 neoplasm of the rectum64 hallmark (90%) HP:0100743
9 neoplasm of the pancreas64 typical (50%) HP:0002894
10 neoplasm of the nervous system64 typical (50%) HP:0004375
11 neoplasm of the stomach64 typical (50%) HP:0006753
12 renal neoplasm64 typical (50%) HP:0009726
13 uterine neoplasm64 typical (50%) HP:0010784
14 biliary tract neoplasm64 typical (50%) HP:0100574
15 ovarian neoplasm64 typical (50%) HP:0100615
16 neoplasm of the small intestine64 typical (50%) HP:0100833
17 recurrent urinary tract infections64 occasional (7.5%) HP:0000010
18 ascites64 occasional (7.5%) HP:0001541
19 nausea and vomiting64 occasional (7.5%) HP:0002017
20 hepatomegaly64 occasional (7.5%) HP:0002240

GenomeRNAi Phenotypes related to Lynch Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00016-A10.3APC, BRAF, BRCA1, BRCA2, MSH2, TGFBR2
2GR00381-A-19.8BRAF, BRCA1, KRAS, MLH3, MSH2, PMS1
3GR00250-A-19.3BRAF, BRCA1, BRCA2, EXO1, FAN1, MLH1
4GR00250-A-39.2BRAF, BRCA1, BRCA2, EXO1, FAN1, MLH1

MGI Mouse Phenotypes related to Lynch Syndrome according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2APC, BRAF, BRCA1, KRAS, TP53
2MP:00053809.9APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
3MP:00053759.8APC, BRAF, BRCA1, PIK3CA, TGFBR2, TP53
4MP:00053899.7APC, BRAF, BRCA1, BRCA2, EXO1, KRAS
5MP:00053799.5APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
6MP:00107719.4APC, BRAF, BRCA1, BRCA2, KRAS, MLH1
7MP:00053979.3APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
8MP:00036319.3APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
9MP:00053879.3APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
10MP:00053849.1APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
11MP:00053819.1APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
12MP:00020069.0APC, BRAF, BRCA1, BRCA2, EXO1, KRAS
13MP:00107688.8APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
14MP:00053768.7APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1

Drugs & Therapeutics for Lynch Syndrome

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Drugs for Lynch Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 79)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Levonorgestrelapproved, investigationalPhase 3, Phase 2293797-63-7, 17489-40-613109
Synonyms:
(-)-13-Ethyl-17-hydroxy-18,19-dinor-17alpha-pregn-4-en-20-yn-3-one
(-)-Norgestrel
(8R,9S,10R,13S,14S,17R)-13-ethyl-17-ethynyl-17-hydroxy- 1,2,6,7,8,9,10,11,12,13,14,15,16, 17- tetradecahydrocyclopenta[a] phenanthren-3-one
)-Norgestrel
121714-72-5
13-BETA-ETHYL-17-ALPHA-ETHYNYL-17-BETA-HYDROXYGON-4-EN-3-ONE
13-Ehyl-17alpha-ethynyl-17-hydroxygon-4-en-3-one
13-Ethyl-17-alpha-ethynyl-17-beta-hydroxy-4-gonen-3-one
13-Ethyl-17-alpha-ethynylgon-4-en-17-beta-ol-3-one
13-Ethyl-17alpha-ethynylgon-4-en-17beta-ol-3-one
13-beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
13beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
17-Ethynyl-18-methyl-19-nortestosterone
17-alpha-Ethinyl-13-beta-ethyl-17-beta-hydroxy-4-estren-3-one
17-alpha-Ethynyl-13-ethyl-19-nortestosterone
17alpha-Ethynyl-13-ethyl-19-nortestosterone
17alpha-Ethynyl-13beta-ethyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-17-hydroxy-18-methylestr-4-en-3-one
17alpha-Ethynyl-18-homo-19-nor-testosterone
17alpha-Ethynyl-18-homo-19-nortestosterone
17alpha-ethynyl-17beta-hydroxy-18a-homoestr-4-en-3-one
18,19-Dinor-4-pregnen-20-yn-3-one
18-Methyl-17-alpha-ethynyl-19-nortestosterone
18-Methylnorethisterone
4222-79-1
6533-00-2
72-HOURS
797-62-6
797-63-7
AC1L211U
AC1Q6OEV
BAY 86-5028
BAY86-5028
BIDD:PXR0194
BPBio1_000932
BRD-K35189033-001-03-0
BRN 2391114
BSPBio_000846
Bio-0595
C08149
C08153
CCRIS 6525
CCRIS 9033
CHEBI:44593
CHEBI:6443
CHEMBL1389
CID13109
CPD000059117
Capronor
D(−
D(-)-Norgestrel
D-(-)-Norgestrel
D-Norgestrel
D00950
D00954
DB00367
DB00506
E-Gen-C
EINECS 212-349-8
EINECS 229-433-5
FH 122-A
Follistrel
HMS1570K08
HMS2051M08
HMS2090O06
HSDB 3595
HSDB 6483
Jadelle
LD norgestrel [French]
LMST02030119
LO/Ovral
LS-62083
LS-62084
Ld norgestrel
Levlen
Levlen ED
Levonelle
Levonelle, D-Norgestrel, Levonova, Levonorgestrel
Levonorgestrel
Levonorgestrel (JAN/USP/INN)
Levonorgestrel [USAN:INN:BAN]
Levonorgestrel implants
Levonorgestrelum
Levonorgestrelum [INN-Latin]
Levonova
Levora-21
Levora-28
Logynon ED
Lévonorgestrel
MLS000069491
MLS000759484
 
MLS001074069
Methylnorethindrone
Microgest ED
Microgyn
Microgynon 21
Microgynon 28
Microgynon 30 ED
Microgynon CD
Microlut
Microlution
Microluton
Microval
Minivlar 30
Mirena
Mirena (TN)
MolPort-002-510-453
Monofeme 28
Monovar
N2260_FLUKA
N2260_SIGMA
NCGC00159349-02
NCGC00159349-03
NORPLANT
NSC744007
Neogest
Neogynon 21
NorLevo
Nordet
Nordette 21
Nordette 28
Norgeston
Norgestrel (JP15/USP/INN)
Norgestrel [Progestins]
Norgestrel [USAN:BAN:INN:JAN]
Norgestrel [USAN:INN:BAN:JAN]
Norgestrel-(-)-D
Norgestrelum
Norgestrelum [INN-Latin]
Norplant (TN)
Norplant 2
Norplant II
Norplant System in Plastic Container
Norplant-2
Ovoplex 30-150
Ovral-Lo
Ovranette
Ovrette
Ovrette (TN)
Plan B
Plan b
Postinor
Postinor-2
Prestwick0_000773
Prestwick1_000773
Prestwick2_000773
Prestwick3_000773
Prestwick_109
Preven
Rigevidon 21+7
S1727_Selleck
SAM001246694
SH 70850
SH 850
SMR000059117
SMR000653526
SOH-075
SPBio_002785
Stediril 30
Tetragynon
Tri-Levlen 21
Triagynon
Triciclor
Trifeme 28
Trigoa
Trinordiol 21
Trinordiol 28
Triphasil 21
Triphasil 28
Triquilar ED
Trivora
UNII-3J8Q1747Z2
UNII-5W7SIA7YZW
Wy 3707
Wy-3707
Wy-5104
ZINC03814395
alpha-Norgestrel
component of Lo/ovral
d(-)-Norgestrel
dl-13-beta-Ethyl-17-alpha-ethynyl-19-nortestosterone
dl-Norgestrel
norgestrel
2
Bevacizumabapproved, investigationalPhase 3, Phase 11968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
3
LoperamideapprovedPhase 314353179-11-63955
Synonyms:
2-methoxyethyl1-methylethyl2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate
34552-83-5 (mono-hydrochloride)
4-(4-Chlorophenyl)-N,N-dimethyl-.alpha.,.alpha.-diphenyl-4-hydroxy-1-piperidinebutanamide
4-(4-Chlorophenyl)-N,N-dimethyl-alpha,alpha-diphenyl-4-hydroxy-1-piperidinebutanamide
4-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]-N,N-dimethyl-2,2-diphenylbutanamide
5-21-02-00379 (Beilstein Handbook Reference)
53179-11-6
AB00053697
AC1L1H38
AKOS000573892
Apo-Loperamide
BAS 01889668
BPBio1_000274
BRD-K61250553-001-02-9
BRD-K61250553-003-05-8
BRN 1558273
BSPBio_000248
BSPBio_001381
BSPBio_002769
Bio1_000082
Bio1_000571
Bio1_001060
Bio2_000101
Bio2_000581
C07080
C29H33ClN2O2
CAS-34552-83-5
CBiol_001796
CHEBI:162259
CHEBI:6532
CHEMBL841
CID3955
D08144
DB00836
Diamide (TN)
Diarr-Eze
DivK1c_000215
EINECS 258-416-5
HMS1791F03
HMS1989F03
HMS2089C13
IDI1_000215
IDI1_033851
Imodium A-D
Imodium A-D Caplets
Ioperamide
KBio1_000215
KBio2_000101
KBio2_000854
KBio2_002669
KBio2_003422
KBio2_005237
KBio2_005990
KBio3_000201
 
KBio3_000202
KBio3_001989
KBioGR_000101
KBioGR_001685
KBioSS_000101
KBioSS_000854
Kaopectate II
L000709
LS-114352
Lopac-L-4762
Lopac0_000708
Loperacap
Loperamid
Loperamida
Loperamida [INN-Spanish]
Loperamide (INN)
Loperamide Monohydrochloride
Loperamide [INN:BAN]
Loperamide hydrochloride
Loperamidum
Loperamidum [INN-Latin]
Lopéramide
Maalox Anti-Diarrheal
MolPort-001-969-016
NCGC00015608-01
NCGC00015608-08
NCGC00016828-01
NCGC00024818-01
NCGC00024818-02
NCGC00024818-03
NCGC00024818-04
NCGC00024818-05
NINDS_000215
Nu-Loperamide
Oprea1_109220
PMS-Loperamide
Pepto Diarrhea Control
Prestwick0_000144
Prestwick1_000144
Prestwick2_000144
Prestwick3_000144
R-18553
Rho-Loperamide
SPBio_001816
SPBio_002187
ST095179
Spectrum2_001738
Spectrum3_001015
Spectrum4_001143
Spectrum5_001374
Spectrum_000374
Tocris-0840
UNII-6X9OC3H4II
loperamide
nchembio.559-comp8
nchembio.79-comp7
4
Oxaliplatinapproved, investigationalPhase 3141261825-94-35310940, 9887054, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
5
leucovorinapprovedPhase 3108958-05-9143, 54575
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
6
FluorouracilapprovedPhase 3179151-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
7
LevoleucovorinapprovedPhase 371168538-85-2
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-5-formyltetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
 
(S)-Leucovorin
Citrovorum factor
L-Folinic acid
Levofolene
Levofolinic acid
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
8
Aspirinapproved, vet_approvedPhase 3111250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
9
Folic Acidapproved, nutraceutical, vet_approvedPhase 3427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
10AnalgesicsPhase 3, Phase 2, Phase 111287
11MitogensPhase 3, Phase 11526
12Anti-Inflammatory Agents, Non-SteroidalPhase 3, Phase 2, Phase 14295
13Contraceptive AgentsPhase 3, Phase 21901
14Contraceptives, OralPhase 3, Phase 21292
15Peripheral Nervous System AgentsPhase 3, Phase 2, Phase 122776
16Cyclooxygenase InhibitorsPhase 3, Phase 2, Phase 12778
17Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 110355
18Analgesics, Non-NarcoticPhase 3, Phase 2, Phase 16260
19Antirheumatic AgentsPhase 3, Phase 2, Phase 110627
20Endothelial Growth FactorsPhase 3, Phase 1362
21Angiogenesis InhibitorsPhase 3, Phase 14143
22Angiogenesis Modulating AgentsPhase 3, Phase 14072
23VitaminsPhase 35095
24Gastrointestinal AgentsPhase 38109
25AntibodiesPhase 3, Phase 26045
26ImmunoglobulinsPhase 3, Phase 26045
27AntidiarrhealsPhase 3143
28Bone Density Conservation AgentsPhase 33266
29Antibodies, MonoclonalPhase 3, Phase 23795
30AntimetabolitesPhase 311774
31AntidotesPhase 31038
32Calcium, DietaryPhase 35525
33Antimetabolites, AntineoplasticPhase 37171
34Vitamin B ComplexPhase 34229
35HematinicsPhase 31630
36Immunosuppressive AgentsPhase 312770
37Immunoglobulin GPhase 3265
38MicronutrientsPhase 35802
39Protective AgentsPhase 37190
40Trace ElementsPhase 35802
41Fibrinolytic AgentsPhase 32317
42Platelet Aggregation InhibitorsPhase 32419
43AntipyreticsPhase 31534
44Acetylsalicylic acid lysinatePhase 312
45ColaNutraceuticalPhase 3, Phase 2, Phase 11881
46Folinic AcidNutraceuticalPhase 33150
47FolateNutraceuticalPhase 34279
48Vitamin B9NutraceuticalPhase 34279
49
NorgestrelapprovedPhase 2546533-00-213109
Synonyms:
(-)-Norgestrel
)-Norgestrel
121714-72-5
13-BETA-ETHYL-17-ALPHA-ETHYNYL-17-BETA-HYDROXYGON-4-EN-3-ONE
13-Ehyl-17alpha-ethynyl-17-hydroxygon-4-en-3-one
13-Ethyl-17-alpha-ethynyl-17-beta-hydroxy-4-gonen-3-one
13-Ethyl-17-alpha-ethynylgon-4-en-17-beta-ol-3-one
13-Ethyl-17alpha-ethynylgon-4-en-17beta-ol-3-one
13-beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
13beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
17-Ethynyl-18-methyl-19-nortestosterone
17-alpha-Ethynyl-13-ethyl-19-nortestosterone
17-ethynyl-17-hydroxy-18a-homoestr-4-en-3-one
17alpha-Ethynyl-13-ethyl-19-nortestosterone
17alpha-Ethynyl-13beta-ethyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-17-hydroxy-18-methylestr-4-en-3-one
17alpha-Ethynyl-18-homo-19-nor-testosterone
17alpha-Ethynyl-18-homo-19-nortestosterone
17alpha-ethynyl-17beta-hydroxy-18a-homoestr-4-en-3-one
18,19-Dinor-4-pregnen-20-yn-3-one
18-Methyl-17-alpha-ethynyl-19-nortestosterone
18-Methylnorethisterone
4222-79-1
6533-00-2
72-HOURS
797-62-6
797-63-7
AC1L211U
AC1Q6OEV
BAY 86-5028
BAY86-5028
BIDD:PXR0194
BPBio1_000932
BRD-K35189033-001-03-0
BRN 2391114
BSPBio_000846
Bio-0595
C08149
C08153
CCRIS 6525
CCRIS 9033
CHEBI:44593
CHEBI:6443
CHEMBL1389
CID13109
CPD000059117
Capronor
D(−
D-(-)-Norgestrel
D-Norgestrel
D00950
D00954
DB00367
DB00506
E-Gen-C
EINECS 212-349-8
EINECS 229-433-5
FH 122-A
Follistrel
HMS1570K08
HMS2051M08
HMS2090O06
HSDB 3595
HSDB 6483
Jadelle
LD norgestrel
LD norgestrel [French]
LMST02030119
LO/Ovral
LS-62083
LS-62084
Ld norgestrel
Levlen
Levlen ED
Levonelle
Levonelle, D-Norgestrel, Levonova, Levonorgestrel
Levonorgestrel
Levonorgestrel (JAN/USP/INN)
Levonorgestrel [USAN:INN:BAN]
Levonorgestrel implants
Levonorgestrelum
Levonorgestrelum [INN-Latin]
Levonova
Levora-21
Levora-28
Logynon ED
MLS000069491
MLS000759484
MLS001074069
 
Methylnorethindrone
Microgest ED
Microgyn
Microgynon 21
Microgynon 28
Microgynon 30 ED
Microgynon CD
Microlut
Microlution
Microluton
Microval
Minivlar 30
Mirena
Mirena (TN)
MolPort-002-510-453
Monofeme 28
Monovar
N2260_FLUKA
N2260_SIGMA
NCGC00159349-02
NCGC00159349-03
NORPLANT
NSC744007
Neogest
Neogynon 21
NorLevo
Nordet
Nordette 21
Nordette 28
Norgeston
Norgestrel (JP15/USP/INN)
Norgestrel [Progestins]
Norgestrel [USAN:BAN:INN:JAN]
Norgestrel [USAN:INN:BAN:JAN]
Norgestrel-(-)-D
Norgestrelum
Norgestrelum [INN-Latin]
Norplant (TN)
Norplant 2
Norplant II
Norplant System in Plastic Container
Norplant-2
Ovoplex 30-150
Ovral-Lo
Ovranette
Ovrette
Ovrette (TN)
Plan B
Postinor
Postinor-2
Prestwick0_000773
Prestwick1_000773
Prestwick2_000773
Prestwick3_000773
Prestwick_109
Preven
Rigevidon 21+7
S1727_Selleck
SAM001246694
SH 70850
SH 850
SMR000059117
SMR000653526
SOH-075
SPBio_002785
Stediril 30
Tetragynon
Tri-Levlen 21
Triagynon
Triciclor
Trifeme 28
Trigoa
Trinordiol 21
Trinordiol 28
Triphasil 21
Triphasil 28
Triquilar ED
Trivora
UNII-3J8Q1747Z2
UNII-5W7SIA7YZW
Wy 3707
Wy-3707
Wy-5104
ZINC03814395
alpha-Norgestrel
component of Lo/ovral
d(-)-Norgestrel
dl-13-beta-Ethyl-17-alpha-ethynyl-19-nortestosterone
dl-Norgestrel
norgestrel
50
Ethinyl EstradiolapprovedPhase 271257-63-65991
Synonyms:
17 alpha-Ethinylestradiol
17 alpha-Ethynylestradiol
17 alpha-Ethynyloestradiol
17 alpha-ethinyestradiol
17-Ethinyl-3,17-estradiol
17-Ethinyl-3,17-oestradiol
17-Ethinylestradiol
17-Ethynylestradiol
17-Ethynylestradiol ram
17-Ethynyloestradiol
17-alpha-Ethinyl-17-beta-estradiol
17-alpha-Ethynyl-17-beta-oestradiol
17-alpha-Ethynylestradiol
17-alpha-Ethynylestradiol-17-beta
17-alpha-ethynyl estradiol
17-ethinyl-3,17-estradiol
17-ethinyl-3,17-oestradiol
17-ethinylestradiol
17.alpha.-Ethinyl-17.beta.-estradiol
17.alpha.-Ethinylestradiol
17.alpha.-Ethynyl-17.beta.-oestradiol
17.alpha.-Ethynylestradiol
17.alpha.-Ethynylestradiol-l7.beta.
17.alpha.-Ethynyloestradiol
17.alpha.-Ethynyloestradiol-17.beta.
17a-Ethinyl-17b-estradiol
17a-Ethinylestradiol
17a-Ethynyl-17b-oestradiol
17a-Ethynylestradiol
17a-Ethynylestradiol-l7b
17a-Ethynyloestradiol
17a-Ethynyloestradiol-17b
17alpha-Ethinyl estradiol
17alpha-Ethinylestradiol
17alpha-Ethinylestradiol-17beta
17alpha-Ethynylestradiol
17alpha-Ethynyloestradiol
17alpha-Ethynyloestradiol-17beta
17α-ethynylestradiol
406932-93-2
46263_FLUKA
46263_RIEDEL
57-63-6
77538-56-8
AC-2169
AC1L1LK6
AI3-52941
Aethinyloestradiolum
Aethinyoestradiol
Aethinyoestradiol [German]
Alora
Amenoron
Amenorone
Anovlar
BIDD:ER0162
BRN 2419975
Bio-0610
C07534
CCRIS 286
CHEBI:4903
CHEMBL691
CID5991
CPD000058319
Certostat
Chee-O-Gen
Chee-O-Genf
Cyclosa
D004997
D00554
DB00977
Dicromil
Diognat-E
Diogyn E
Diogyn-E
Diprol
Dyloform
E4876_SIGMA
EE
EE(sub 2)
EE2
EINECS 200-342-2
EO
ETHINYLESTRADIOL
Effik Brand of Ethinyl Estradiol
Ertonyl
Esclim
Esteed
Estigyn
Estinyl
Estinyl (TN)
Eston-E
Estopherol
Estoral
Estoral (Orion)
Estoral (VAN)
Estoral [Orion]
Estoral {[Orion]}
Estorals
Estradiol, Ethinyl
Estradiol, Ethynyl
Estring
Estrogen
Ethidol
Ethinoral
Ethinyl E2
Ethinyl Estradiol Hemihydrate
Ethinyl Estradiol [USP]
 
Ethinyl Estradiol, (8 alpha)-Isomer
Ethinyl Oestradiol Effik
Ethinyl estradiol
Ethinyl estradiol (USP)
Ethinyl-Oestradiol Effik
Ethinyl-Oestranol
Ethinyl-oestranol
Ethinylestradiol
Ethinylestradiol (JP15/INN)
Ethinylestradiol Jenapharm
Ethinylestradiol [INN:BAN:JAN]
Ethinylestradiolum
Ethinylestradiolum [INN-Latin]
Ethinylestriol
Ethinyloestradiol
Ethinyloestradiol [Steroidal oestrogens]
Ethy 11
Ethynyl estradiol
Ethynylestradiol
Ethynylestradiol, Ethinyl Estradiol
Ethynyloestradiol
Eticyclin
Eticyclol
Eticylol
Etinestrol
Etinestryl
Etinilestradiol
Etinilestradiol [INN-Spanish]
Etinilestradiolo
Etinilestradiolo [DCIT]
Etinoestryl
Etistradiol
Etivex
Evra
Feminone
Fempatch
Follicoral
Ginestrene
Gynodiol
Gynolett
HMS2051I19
HSDB 3587
Halodrin
Hemihydrate, Ethinyl Estradiol
Inestra
Innofem
Jenapharm Brand of Ethinyl Estradiol
Jenapharm, Ethinylestradiol
Kolpolyn
LMST02010036
LS-231
Linoral
Lynoral
MLS000028479
MLS000758274
Marvelon
Menolyn
Menostar
Mercilon
Microfollin
Microfollin Forte
MolPort-001-794-636
NCGC00091533-01
NCGC00091533-04
NCGC00091533-05
NCI60_000234
NSC-10973
NSC10973
Neo-Estrone
Nogest-S
Novestrol
OVULEN-21
OVULEN-28
Oradiol
Orestralyn
Orestrayln
Organon Brand of Ethinyl Estradiol
Ortho-Cyclen
Ovex
Oviol
PUBERTAL ETHINYL ESTRADIOL STUDY
Palonyl
Perovex
Primogyn
Primogyn C
Primogyn M
Progynon C
Progynon M
Prosexol
S1625_Selleck
SAM001247008
SGCUT00127
SMR000058319
Schering Brand of Ethinyl Estradiol
Spanestrin
Thiuram E
Thiuranide
UNII-423D2T571U
Vagifem
Varnoline
WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
Ylestrol
component of Demulen
component of Oracon
component of Ortrel
ethinyl estradiol
ethynyl estradiol
to_000048

Interventional clinical trials:

(show top 50)    (show all 75)
idNameStatusNCT IDPhase
1Use of Post Operative Loperamide in Colorectal Patients After Diverting IleostomiesRecruitingNCT02263365Phase 3
2Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
3Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch SyndromeNot yet recruitingNCT02813824Phase 3
4Finding the Best Dose of Aspirin to Prevent Lynch Syndrome CancersNot yet recruitingNCT02497820Phase 3
5Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite InstabilityNot yet recruitingNCT02912559Phase 3
6Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel AdenocarcinomaNot yet recruitingNCT02502370Phase 3
7Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch SyndromeTerminatedNCT00566644Phase 3
8CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer SyndromeCompletedNCT00224601Phase 2
9Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon CancerCompletedNCT00033358Phase 2
10Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSIActive, not recruitingNCT01885702Phase 1, Phase 2
11Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal CancersActive, not recruitingNCT00503035Phase 2
12Mesalamine for Colorectal Cancer Prevention Program in Lynch SyndromeNot yet recruitingNCT02864979Phase 2
13Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin CancersNot yet recruitingNCT02978625Phase 2
14Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous PolyposisTerminatedNCT00033371Phase 2
15Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and CarriersCompletedNCT00001693Phase 1
16Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
17Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous PolyposisCompletedNCT00685568Phase 1
18Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
19A Social Media Approach to Improve Genetic Risk Communication Phase IActive, not recruitingNCT01645904Phase 1
20Implementation of Guidelines on Hereditary or Familial Colorectal CancerUnknown statusNCT00929097
21Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal CancerUnknown statusNCT00675636
22Implementation of a New Strategy to Identify HNPCC PatientsUnknown statusNCT00141466
23I-Scan For Colon Polyp Detection In HNPCCUnknown statusNCT01823471
24Hypodontia and Ovarian CancerUnknown statusNCT01470235
25Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal CancerUnknown statusNCT00516230
26Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer SurveillanceCompletedNCT00313755
27Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
28Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00508846
29Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00004210
30Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal CancerCompletedNCT00450424
31Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch SyndromeCompletedNCT00905710
32Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00341575
33Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
34Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch SyndromeCompletedNCT00898768Early Phase 1
35Molecular Screening for Lynch Syndrome in Southern DenmarkCompletedNCT01216930
36Integrating Genetic Testing for Lynch Syndrome in a Managed Care SettingCompletedNCT01582841
37Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
38Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402
39Combined Colon and Endometrial Cancer Screening in Women With HNPCCCompletedNCT00510796
40Oligogenic Determinism of Colorectal CancerCompletedNCT01057953
41Qigong For Treatment Of FibromyalgiaCompletedNCT00938834
42What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate?CompletedNCT01692977
43Survivorship in Lynch Syndrome FamiliesRecruitingNCT01126840
44Registry for Women Who Are At Risk Or May Have Lynch SyndromeRecruitingNCT00508573
45High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome.RecruitingNCT02951390
46Multi-Organ Screening Recommendations in Patients With Lynch SyndromeRecruitingNCT00582296
47The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)RecruitingNCT01447199
48Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
49NBI Versus Indigo Carmine During Colonoscopy in Lynch SyndromeRecruitingNCT02570516
50Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis SyndromesRecruitingNCT02371135

Search NIH Clinical Center for Lynch Syndrome


Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Genetic Tests for Lynch Syndrome

About this section

Genetic tests related to Lynch Syndrome:

id Genetic test Affiliating Genes
1 Lynch Syndrome27 24
2 Hereditary Nonpolyposis Colorectal Carcinoma27

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

36
Colon, Testes, Brain, Skin, Small intestine, Ovary, Uterus

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50)    (show all 707)
idTitleAuthorsYear
1
Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome. (28059909)
2017
2
The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. (27894169)
2017
3
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. (28065618)
2017
4
Approach to Lynch Syndrome for the Gastroenterologist. (27990589)
2017
5
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. (28059100)
2017
6
How does genetic risk information for Lynch syndrome translate to risk management behaviours? (28070225)
2017
7
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression. (27168032)
2016
8
Depressed-type submucosal invasive colorectal cancer in a patient with Lynch syndrome diagnosed using short-interval colonoscopy. (27500781)
2016
9
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. (27398995)
2016
10
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. (27013479)
2016
11
PD-L1 Expression in Mismatch Repair-deficient Endometrial Carcinomas, Including Lynch Syndrome-associated and MLH1 Promoter Hypermethylated Tumors. (27984238)
2016
12
Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome. (27602130)
2016
13
Enhanced gene targeting to evaluate Lynch syndrome alterations. (27035997)
2016
14
Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome. (27380347)
2016
15
Universal Screening for Mismatch-Repair Deficiency in Endometrial Cancers to Identify Patients With Lynch Syndrome and Lynch-like Syndrome. (27556954)
2016
16
A Practical Approach to the Evaluation of Gastrointestinal Tract Carcinomas for Lynch Syndrome. (26974895)
2016
17
Colorectal Choriocarcinoma in a Patient with Probable Lynch Syndrome. (27965933)
2016
18
Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan. (27482709)
2016
19
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report. (27014339)
2016
20
Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. (27535758)
2016
21
Small bowel adenocarcinoma in Lynch syndrome: A case report. (27446478)
2016
22
TP53 Polymorphisms and Colorectal Cancer Risk in Patients with Lynch Syndrome in Taiwan: A Retrospective Cohort Study. (27907203)
2016
23
Low density of FOXP3-positive T cells in normal colonic mucosa is related to the presence of beta2-microglobulin mutations in Lynch syndrome-associated colorectal cancer. (27057447)
2016
24
Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer. (27965287)
2016
25
Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol. (26969429)
2016
26
Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? (27915441)
2016
27
Reflex test reminders in required cancer synoptic templates decrease order entry error: An analysis of mismatch repair immunohistochemical orders to screen for Lynch syndrome. (27994940)
2016
28
Lynch syndrome in South America: past, present and future. (27007491)
2016
29
Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report. (27928858)
2016
30
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. (27064304)
2016
31
Abdominal wall metastasis following open nephroureterectomy for upper tract urothelial carcinoma in a patient with Lynch syndrome. (27033297)
2016
32
Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. (27920101)
2016
33
Familial adrenocortical carcinoma in association with Lynch syndrome. (27144940)
2016
34
Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome. (28004223)
2016
35
Lynch syndrome in upper tract urothelial carcinoma: significance, screening, and surveillance. (27533503)
2016
36
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. (27606285)
2016
37
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. (26973060)
2016
38
Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAM-MSH2 fusion. (27896849)
2016
39
Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors. (27401157)
2016
40
Genetic testing for Lynch syndrome in the province of Ontario. (27019099)
2016
41
Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome. (27063605)
2016
42
The impact of receiving predictive genetic information about Lynch syndrome on individual colonoscopy and smoking behaviours. (27528600)
2016
43
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. (27435373)
2016
44
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. (27601186)
2016
45
Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. (27020214)
2016
46
Recent discoveries in the molecular genetics of Lynch syndrome. (27038793)
2016
47
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome. (27413415)
2016
48
MR findings of Lynch syndrome-related uterine endometrial carcinoma: a case report. (27040405)
2016
49
Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report. (27938333)
2016
50
Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. (27069191)
2016

Variations for Lynch Syndrome

About this section

Clinvar genetic disease variations for Lynch Syndrome:

5 (show all 1,307)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH2NM_000251.2(MSH2): c.932delA (p.Asn311Thrfs)deletionPathogenicrs587779979GRCh37Chr 2, 47641547: 47641547
2MSH6NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter)SNVPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
3MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
4PMS2NM_000535.6(PMS2): c.1376C> A (p.Ser459Ter)SNVPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
5PMS2NM_000535.6(PMS2): c.904-2A> GSNVLikely pathogenic, Pathogenicrs587781339GRCh38Chr 7, 5992059: 5992059
6MLH1NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
7PMS2NM_000535.6(PMS2): c.325delG (p.Glu109Lysfs)deletionPathogenicrs587781716GRCh37Chr 7, 6043349: 6043349
8PMS2NM_000535.6(PMS2): c.736_741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
9PMS2NM_000535.6(PMS2): c.2117delA (p.Lys706Serfs)deletionPathogenicrs587782704GRCh38Chr 7, 5982881: 5982881
10PMS2NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs)deletionPathogenicrs587782710GRCh38Chr 7, 5997376: 5997383
11MSH6NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs)deletionLikely pathogenic, Pathogenicrs587782712GRCh38Chr 2, 47801020: 47801024
12MLH1NM_000249.3(MLH1): c.117-2A> GSNVPathogenicrs267607712GRCh38Chr 3, 36996617: 36996617
13EPCAMNM_002354.2(EPCAM): c.556-14A> GSNVPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
14PMS2NM_000535.6(PMS2): c.1144+1G> ASNVLikely pathogenic, Pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
15MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)SNVPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
16MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
17MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)SNVPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
18MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)SNVPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
19MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
20MLH1MLH1, EX16DELdeletionPathogenicChr na, -1: -1
21MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)SNVPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
22MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)SNVPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
23MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)SNVPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
24MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)SNVPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
25MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenicChr na, -1: -1
26MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
27MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)SNVPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
28MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)SNVPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
29MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)SNVPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
30MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)SNVPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
31MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
32MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)SNVPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
33MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)SNVLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
34MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
35MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
36MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)SNVPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
37MSH2MSH2, EX1-6 DELdeletionPathogenicChr na, -1: -1
38MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
39MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenicChr na, -1: -1
40MSH6NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter)SNVPathogenicrs730881816GRCh37Chr 2, 48026927: 48026927
41MSH6NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
42PMS2NM_000535.6(PMS2): c.2T> A (p.Met1Lys)SNVPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
43PMS2NM_000535.6(PMS2): c.765C> A (p.Tyr255Ter)SNVPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
44MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)SNVLikely pathogenic, Pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
45MSH6NM_000179.2(MSH6): c.578delT (p.Leu193Trpfs)deletionPathogenicrs587782281GRCh37Chr 2, 48023153: 48023153
46MSH6NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs)duplicationPathogenicrs786201050GRCh37Chr 2, 48027352: 48027352
47PMS2NM_000535.6(PMS2): c.251-2A> TSNVLikely pathogenic, Pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
48MSH6NM_000179.2(MSH6): c.3980_3983dupATCA (p.Leu1330Valfs)duplicationLikely pathogenic, Pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
49MSH6NM_000179.2(MSH6): c.989C> A (p.Ser330Ter)SNVPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
50PMS2NM_000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh38Chr 7, 5986891: 5986891
51MSH6NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
52EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenicChr na, -1: -1
53MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
54MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
55MSH2NM_000251.2(MSH2): c.491G> A (p.Gly164Glu)SNVPathogenicrs786204082GRCh38Chr 2, 47410218: 47410218
56PMS2NM_000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh37Chr 7, 6027211: 6027211
57MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
58MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)SNVPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
59MSH6NM_000179.2(MSH6): c.1108_1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
60MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
61MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh38Chr 3, 36993548: 36993663
62MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
63MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
64MSH2NM_000251.2(MSH2): c.1278_1386+1deldeletionPathogenicGRCh38Chr 2, 47445549: 47445658
65MSH2NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter)SNVPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
66MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
67MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)SNVPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
68MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
69MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
70MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh37Chr 2, 48030821: 48030821
71MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)SNVPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
72MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
73MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630330: 47643568
74MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
75MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
76PMS2NM_000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
77PMS2NM_000535.6(PMS2): c.1297A> T (p.Lys433Ter)SNVPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
78PMS2NM_000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
79PMS2NM_000535.6(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
80MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh37Chr 2, 48026732: 48026735
81MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
82MLH1NM_000249.3(MLH1): c.307-?_380+?deldeletionPathogenicChr na, -1: -1
83MSH6NM_000179.2(MSH6): c.3332_3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh38Chr 2, 47803579: 47803582
84MSH6NM_000179.2(MSH6): c.3528_3532delACTTG (p.Leu1177Cysfs)deletionLikely pathogenic, Pathogenicrs863225408GRCh37Chr 2, 48032138: 48032142
85MSH6NM_000179.2(MSH6): c.4028C> G (p.Ser1343Ter)SNVPathogenicrs863225420GRCh37Chr 2, 48033944: 48033944
86MSH2NM_000251.2(MSH2): c.1963_1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh37Chr 2, 47702367: 47702368
87MSH6NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter)SNVPathogenicrs864622153GRCh37Chr 2, 48026813: 48026813
88MSH2NM_000251.2(MSH2): c.748G> T (p.Gly250Ter)SNVPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
89PMS2NM_000535.6(PMS2): c.121G> T (p.Glu41Ter)SNVPathogenicrs3209663GRCh38Chr 7, 6005934: 6005934
90MSH6NM_000179.2(MSH6): c.458-?_3172+?deldeletionPathogenicChr na, -1: -1
91MSH6NM_000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
92MSH2NM_000251.2(MSH2): c.819_821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
93PMS2NM_000535.6(PMS2): c.538-?_903+?deldeletionPathogenicChr na, -1: -1
94MSH2NM_000251.2(MSH2): c.842C> G (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
95MSH2NM_000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
96MLH1NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter)SNVPathogenicrs267607823GRCh38Chr 3, 37025844: 37025844
97EPCAMNM_002354.2(EPCAM): c.491+1G> TSNVPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
98MSH6NM_000179.2(MSH6): c.3526A> T (p.Arg1176Ter)SNVPathogenicrs786203968GRCh38Chr 2, 47804997: 47804997
99MSH6NM_000179.2(MSH6): c.1387G> T (p.Glu463Ter)SNVPathogenicrs864622435GRCh38Chr 2, 47799370: 47799370
100MSH2NM_000251.2(MSH2): c.1563T> A (p.Tyr521Ter)SNVPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
101MSH2NM_000251.2(MSH2): c.421_422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh37Chr 2, 47637287: 47637288
102MSH6NM_000179.2(MSH6): c.2308_2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh37Chr 2, 48027430: 48027434
103PMS2NM_000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh37Chr 7, 6026646: 6026646
104MLH1NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
105MSH2NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
106MSH6NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
107MSH6NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
108PMS2NM_000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh37Chr 7, 6026896: 6026896
109MSH2NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter)SNVPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
110PMS2NM_000535.6(PMS2): c.851C> G (p.Ser284Ter)SNVPathogenicrs587782898GRCh38Chr 7, 5995586: 5995586
111MSH6NM_000179.2(MSH6): c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
112PMS2NM_000535.6(PMS2): c.2445+1G> TSNVPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
113MSH6NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
114MSH6NM_000179.2(MSH6): c.1570_1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
115MSH6NM_000179.2(MSH6): c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh38Chr 2, 47800039: 47800043
116MSH6NM_000179.2(MSH6): c.2680C> T (p.Gln894Ter)SNVPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
117MSH6NM_000179.2(MSH6): c.2804_2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
118MSH6NM_000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
119MSH6NM_000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
120MSH6NM_000179.2(MSH6): c.3717_3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
121MSH6NM_000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
122MSH6NM_000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
123MLH1NM_000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
124MLH1NM_000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
125MLH1NM_000249.3(MLH1): c.2044_2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
126MLH1NM_000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
127MLH1NM_000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
128MLH1NM_000249.3(MLH1): c.961_962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
129MSH2NM_000251.2(MSH2): c.1404_1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
130MSH2NM_000251.2(MSH2): c.2150_2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh37Chr 2, 47703650: 47703653
131MSH2NM_000251.2(MSH2): c.340G> T (p.Glu114Ter)SNVPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
132MSH2NM_000251.2(MSH2): c.790C> T (p.Gln264Ter)SNVPathogenicrs878853824GRCh37Chr 2, 47639697: 47639697
133PMS2NM_000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
134PMS2NM_000535.6(PMS2): c.1591G> T (p.Glu531Ter)SNVPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
135PMS2NM_000535.6(PMS2): c.2276-?_*160+?deldeletionPathogenicChr na, -1: -1
136PMS2NM_000535.6(PMS2): c.947_948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh38Chr 7, 5992013: 5992014
137EPCAMNM_002354.2(EPCAM): c.133C> T (p.Gln45Ter)SNVPathogenicrs878854485GRCh37Chr 2, 47600658: 47600658
138EPCAMNM_002354.2(EPCAM): c.429G> A (p.Trp143Ter)SNVPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
139EPCAMNM_002354.2(EPCAM): c.523C> T (p.Gln175Ter)SNVPathogenicrs878854491GRCh37Chr 2, 47604184: 47604184
140MSH6NM_000179.2(MSH6): c.458-?_4001+?deldeletionPathogenicChr na, -1: -1
141MSH2NM_000251.2(MSH2): c.-125-?_645+?deldeletionPathogenicChr na, -1: -1
142PMS2NM_000535.6(PMS2): c.-87_537+?deldeletionPathogenicChr na, -1: -1
143MSH2NM_000251.2(MSH2): c.-125-?_1076+?deldeletionPathogenicChr na, -1: -1
144PMS2NM_000535.6(PMS2): c.164-?_2006+?deldeletionPathogenicChr na, -1: -1
145PMS2NC_000007.14: g.(?_5986753)_(6009025_?)deldeletionPathogenicGRCh38Chr 7, 5986753: 6009025
146MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenicGRCh37Chr 2, 47637233: 47637511
147MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenicGRCh37Chr 2, 47656881: 47657080
148PMS2NM_000535.6(PMS2): c.989-?_1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
149MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenicGRCh37Chr 2, 47690170: 47690293
150PMS2NM_000535.6(PMS2): c.2276-?_2445+?deldeletionPathogenicGRCh38Chr 7, 5977588: 5977757
151MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)SNVPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
152MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)SNVPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
153MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)SNVPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
154MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)SNVPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
155MLH1NM_000249.3(MLH1): c.454-1G> ASNVPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
156MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)SNVPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
157MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
158MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)SNVPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
159MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
160MSH2NM_000251.2(MSH2): c.942+3A> TSNVPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
161MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
162MSH6NM_000179.2(MSH6): c.3173-1G> CSNVLikely pathogenic, Pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
163MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)SNVPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
164MLH3NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe)SNVPathogenicrs28756990GRCh37Chr 14, 75514138: 75514138
165MSH6NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
166MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
167MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenicNCBI36Chr 2, 47852014: 47873687
168MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
169MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
170MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
171MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
172MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
173MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
174MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)SNVPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
175MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
176MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)SNVPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
177MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)SNVPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
178MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
179MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)SNVPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
180MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)SNVPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
181MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)SNVPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
182MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)SNVPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
183MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
184MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
185MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
186MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
187MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
188MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
189MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
190MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
191MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
192MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
193MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
194MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
195MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)SNVPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
196MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
197MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
198MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
199MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
200MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
201MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)SNVPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
202MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
203MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)SNVPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
204MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)SNVPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
205MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
206MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)SNVPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
207MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)SNVPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
208MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)SNVPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
209MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
210MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
211MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)SNVPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
212MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
213MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
214MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
215MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
216MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)SNVPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
217MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
218MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)SNVPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
219MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)SNVPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
220MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
221MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
222MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)SNVPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
223MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh38Chr 2, 47798634: 47798634
224MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
225MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)SNVPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
226MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
227MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
228MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)SNVPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
229MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
230MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)SNVPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
231MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)SNVPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
232MSH6NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
233MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)SNVPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
234MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)SNVPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
235MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
236MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
237MSH6NM_000179.2(MSH6): c.3172+1G> TSNVLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
238MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
239MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
240MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
241MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
242MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
243MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)SNVPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
244MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
245MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
246MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
247MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
248MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
249MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
250MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
251MSH6NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
252MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
253MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
254MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
255MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
256MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)SNVPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
257MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)SNVPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
258MSH6NM_000179.2(MSH6): c.3379_3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
259MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
260MSH6NM_000179.2(MSH6)insertionPathogenicChr na, -1: -1
261MSH6NM_000179.2(MSH6): c.3439-1G> TSNVLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
262MSH6NM_000179.2(MSH6): c.3439-2A> GSNVLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
263MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)SNVPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
264MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
265MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
266MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
267MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
268MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
269MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
270MSH6NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
271MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
272MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
273MSH6NM_000179.2(MSH6): c.3647-1G> ASNVPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
274MSH6NM_000179.2(MSH6): c.3647-2A> CSNVPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
275MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
276MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
277MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
278MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
279MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)SNVPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
280MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)SNVPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
281MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
282MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
283MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
284MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
285MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)SNVPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
286MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
287MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
288MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
289MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
290MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
291MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
292MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
293MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
294MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
295MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
296MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
297MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
298MSH6NM_000179.2 (MSH6): c.3984_3987dupGTCA (p.Leu1330Valfs)duplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
299MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
300MSH6NM_000179.2(MSH6): c.4001+2T> CSNVPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
301MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)SNVPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
302MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
303MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)SNVPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
304MSH6NM_000179.2(MSH6): c.457+2T> ASNVPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
305MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenicChr na, -1: -1
306MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)SNVPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
307MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
308MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)SNVPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
309MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
310MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
311MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)SNVPathogenicrs587779315GRCh37Chr 2, 48025774: 48025774
312MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)SNVPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
313MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)SNVPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
314MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
315MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)SNVPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
316MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)SNVPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
317MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
318MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)SNVPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
319MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)SNVPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
320MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
321MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)SNVPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
322MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
323MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)SNVPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
324MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
325MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
326MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
327MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
328MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
329MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
330MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
331MLH1NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
332MLH1NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
333MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenicChr na, -1: -1
334MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
335MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
336MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
337MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
338MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
339MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
340MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
341MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
342MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
343MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
344MLH1NM_000249.3(MLH1): c.1039-1G> ASNVPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
345MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
346MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
347MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
348MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenicChr na, -1: -1
349MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenicChr na, -1: -1
350MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
351MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)SNVPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
352MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
353MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
354MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
355MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
356MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
357MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)SNVPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
358MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh37Chr 3, 37067190: 37067190
359MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
360MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)SNVPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
361MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
362MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)SNVPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
363MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
364MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)SNVPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
365MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
366MLH1NM_000249.3(MLH1): c.116+5G> CSNVPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
367MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
368MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)SNVLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
369MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
370MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
371MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenicChr na, -1: -1
372MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenicChr na, -1: -1
373MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenicChr na, -1: -1
374MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)SNVPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
375MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
376MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)SNVPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
377MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
378MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
379MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
380MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
381MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
382MLH1NM_000249.3(MLH1): c.121G> C (p.Asp41His)SNVLikely pathogenicrs267607713GRCh37Chr 3, 37038114: 37038114
383MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)SNVPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
384MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)SNVPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
385MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
386MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
387MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)SNVPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
388MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
389MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
390MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
391MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
392MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
393MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
394MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
395MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
396MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
397MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
398MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
399MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
400MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
401MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
402MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
403MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
404MLH1NM_000249.3(MLH1): c.1409+1G> ASNVLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
405MLH1NM_000249.3(MLH1): c.1409+1G> CSNVPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
406MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
407MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenicChr na, -1: -1
408MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenicChr na, -1: -1
409MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
410MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
411MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
412MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
413MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
414MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
415MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
416MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)SNVPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
417MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
418MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)SNVPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
419MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)SNVPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
420MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
421MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
422MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)SNVPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
423MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
424MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
425MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
426MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
427MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
428MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
429MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)SNVPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
430MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)SNVPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
431MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
432MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
433MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)SNVPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
434MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
435MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
436MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
437MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
438MLH1NM_000249.3(MLH1): c.1558+1G> TSNVPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
439MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
440MLH1NM_000249.3(MLH1): c.1559-1G> TSNVPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
441MLH1NM_000249.3(MLH1): c.1559-2A> GSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
442MLH1NM_000249.3(MLH1): c.1559-2A> TSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
443MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
444MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenicChr na, -1: -1
445MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenicChr na, -1: -1
446MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
447MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
448MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
449MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
450MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
451MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)SNVPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
452MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
453MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
454MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
455MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)SNVPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
456MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)SNVPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
457MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)SNVPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
458MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
459MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
460MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
461MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
462MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)SNVPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
463MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
464MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)SNVPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
465MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)SNVPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
466MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
467MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
468MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)SNVPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
469MLH1NM_000249.3(MLH1): c.1668-1G> ASNVLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
470MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenicChr na, -1: -1
471MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenicChr na, -1: -1
472MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
473MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)SNVPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
474MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)SNVPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
475MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)SNVPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
476MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)SNVPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
477MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
478MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
479MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
480MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
481MLH1NM_000249.3(MLH1): c.1731+1G> ASNVPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
482MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
483MLH1NM_000249.3(MLH1): c.1731+5G> ASNVPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
484MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
485MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)SNVPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
486MLH1NM_000249.3(MLH1): c.1732-1G> ASNVPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
487MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
488MLH1NM_000249.3(MLH1): c.1732-2A> TSNVPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
489MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
490MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenicChr na, -1: -1
491MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenicChr na, -1: -1
492MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)SNVPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
493MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
494MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
495MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
496MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
497MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
498MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
499MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
500MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
501MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
502MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
503MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
504MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)SNVPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
505MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
506MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)SNVPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
507MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
508MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
509MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
510MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
511MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)SNVPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
512MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)SNVPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
513MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
514MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
515MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
516MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)SNVPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
517MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
518MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
519MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
520MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
521MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
522MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)SNVPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
523MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenicChr na, -1: -1
524MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)SNVPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
525MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
526MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
527MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh37Chr 3, 37090015: 37090015
528MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
529MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
530MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
531MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
532MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
533MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
534MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
535MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)SNVPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
536MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
537MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
538MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
539MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)SNVPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
540MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
541MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)SNVPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
542MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
543MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
544MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
545MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
546MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
547MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
548MLH1NM_000249.3(MLH1): c.1989+1G> ASNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
549MLH1NM_000249.3(MLH1): c.1989+1G> TSNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
550MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)SNVPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
551MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
552MLH1NM_000249.3(MLH1): c.1990-1G> ASNVPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
553MLH1NM_000249.3(MLH1): c.1990-2A> GSNVPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
554MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
555MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)SNVPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
556MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
557MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
558MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
559MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
560MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
561MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)SNVPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
562MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
563MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)SNVPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
564MLH1NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg)SNVLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
565MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)SNVPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
566MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)SNVPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
567MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
568MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
569MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
570MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
571MLH1NM_000249.3(MLH1): c.207+1G> ASNVLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
572MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
573MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenicChr na, -1: -1
574MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
575MLH1NM_000249.3(MLH1): c.208-1G> ASNVPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
576MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
577MLH1NM_000249.3(MLH1): c.208-2A> GSNVPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
578MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenicChr na, -1: -1
579MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenicChr na, -1: -1
580MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenicChr na, -1: -1
581MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenicChr na, -1: -1
582MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)SNVPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
583MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
584MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)SNVPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
585MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
586MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)SNVPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
587MLH1NM_000249.3(MLH1): c.2103+1G> ASNVPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
588MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)SNVPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
589MLH1NM_000249.3(MLH1): c.2104-2A> TSNVPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
590MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
591MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
592MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
593MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
594MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
595MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)SNVPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
596MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)SNVPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
597MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)SNVPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
598MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
599MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)SNVPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
600MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
601MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
602MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
603MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
604MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
605MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)SNVPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
606MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
607MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
608MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)SNVPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
609MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
610MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
611MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
612MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
613MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)SNVPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
614MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
615MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)SNVPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
616MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
617MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
618MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)SNVPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
619MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
620MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)SNVPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
621MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
622MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
623MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)SNVPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
624MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
625MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)SNVPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
626MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)SNVPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
627MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
628MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)SNVPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
629MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)SNVPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
630MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
631MLH1NM_000249.3(MLH1): c.306+5G> ASNVPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
632MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)SNVPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
633MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
634MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
635MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
636MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
637MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
638MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenicChr na, -1: -1
639MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
640MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)SNVPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
641MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
642MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
643MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
644MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
645MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)SNVPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
646MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
647MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)SNVPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
648MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
649MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)SNVPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
650MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
651MLH1NM_000249.3(MLH1): c.380+2T> ASNVPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
652MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
653MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenicChr na, -1: -1
654MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)SNVPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
655MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
656MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
657MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
658MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
659MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
660MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
661MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)SNVPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
662MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)SNVPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
663MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
664MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
665MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
666MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
667MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)SNVPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
668MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)SNVPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
669MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
670MLH1NM_000249.3(MLH1): c.453+2T> CSNVPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
671MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
672MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
673MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
674MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
675MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenicChr na, -1: -1
676MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)SNVPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
677MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
678MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
679MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)SNVPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
680MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
681MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
682MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
683MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
684MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
685MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
686MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
687MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
688MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)SNVPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
689MLH1NM_000249.3(MLH1): c.545+3A> GSNVPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
690MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)SNVPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
691MLH1NM_000249.3(MLH1): c.546-2A> CSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
692MLH1NM_000249.3(MLH1): c.546-2A> GSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
693MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
694MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenicChr na, -1: -1
695MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenicChr na, -1: -1
696MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenicChr na, -1: -1
697MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)SNVPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
698MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)SNVPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
699MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)SNVPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
700MLH1NM_000249.3(MLH1): c.588+1G> TSNVPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
701MLH1NM_000249.3(MLH1): c.588+5G> ASNVPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
702MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
703MLH1NM_000249.3(MLH1): c.589-2A> GSNVPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
704MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
705MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)SNVPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
706MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
707MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
708MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
709MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
710MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
711MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
712MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
713MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
714MLH1NM_000249.3(MLH1): c.677+1G> TSNVPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
715MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
716MLH1NM_000249.3(MLH1): c.677+3A> GSNVPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
717MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)SNVPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
718MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)SNVLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
719MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
720MLH1NM_000249.3(MLH1): c.678-1G> CSNVPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
721MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
722MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
723MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenicChr na, -1: -1
724MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenicChr na, -1: -1
725MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)SNVPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
726MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
727MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
728MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
729MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
730MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
731MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)SNVPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
732MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
733MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)SNVPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
734MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
735MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
736MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)SNVPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
737MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
738MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)SNVPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
739MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
740MLH1NM_000249.3(MLH1): c.790+1G> ASNVPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
741MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
742MLH1NM_000249.3(MLH1): c.790+2T> CSNVPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
743MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
744MLH1NM_000249.3(MLH1): c.791-1G> CSNVPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
745MLH1NM_000249.3(MLH1): c.791-2A> GSNVLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
746MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
747MLH1NM_000249.3(MLH1): c.791-5T> GSNVPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
748MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenicChr na, -1: -1
749MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenicChr na, -1: -1
750MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
751MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)SNVLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
752MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
753MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
754MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
755MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)SNVPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
756MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)SNVPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
757MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)SNVPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
758MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
759MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)SNVPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
760MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
761MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
762MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
763MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
764MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
765MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
766MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)SNVPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
767MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)SNVPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
768MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
769MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
770MLH1NM_000249.3(MLH1): c.884+4A> GSNVPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
771MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)SNVPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
772MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
773MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
774MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
775MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
776MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
777MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenicChr na, -1: -1
778MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenicChr na, -1: -1
779MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)SNVPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
780MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
781MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
782MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)SNVPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
783MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)SNVPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
784MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
785MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
786MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
787MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
788MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
789MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
790MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)SNVPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
791MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)SNVPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
792MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
793MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
794MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenicChr na, -1: -1
795MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
796MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
797MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
798MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
799MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
800MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
801MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
802MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
803MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
804MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
805MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
806MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenicChr na, -1: -1
807MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
808MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenicChr na, -1: -1
809MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenicChr na, -1: -1
810MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
811MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenicChr na, -1: -1
812MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
813MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
814MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)SNVPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
815MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
816MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)SNVPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
817MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)SNVPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
818MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
819MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
820MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)SNVPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
821MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)SNVPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
822MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
823MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)SNVPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
824MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
825MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)SNVPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
826MSH2NM_000251.2(MSH2): c.1076+1G> ASNVPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
827MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
828MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
829MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
830MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenicChr na, -1: -1
831MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenicChr na, -1: -1
832MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenicChr na, -1: -1
833MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenicChr na, -1: -1
834MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenicChr na, -1: -1
835MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)SNVPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
836MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
837MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
838MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
839MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
840MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
841MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
842MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)SNVPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
843MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
844MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)SNVPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
845MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
846MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
847MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)SNVPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
848MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)SNVPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
849MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)SNVPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
850MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
851MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
852MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
853MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
854MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
855MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)SNVPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
856MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
857MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)SNVPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
858MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
859MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
860MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
861MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
862MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
863MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
864MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
865MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)SNVPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
866MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)SNVPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
867MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
868MSH2NM_000251.2(MSH2): c.1276+1G> ASNVPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
869MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
870MSH2NM_000251.2(MSH2): c.1277-2A> GSNVPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
871MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
872MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
873MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
874MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenicChr na, -1: -1
875MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenicChr na, -1: -1
876MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenicChr na, -1: -1
877MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenicChr na, -1: -1
878MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)SNVPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
879MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
880MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)SNVPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
881MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)SNVPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
882MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)SNVPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
883MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
884MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
885MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)SNVPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
886MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
887MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
888MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)SNVPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
889MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
890MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
891MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)SNVPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
892MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)SNVPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
893MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
894MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)SNVPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
895MSH2NM_000251.2(MSH2): c.1386+1G> ASNVLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
896MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
897MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
898MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenicChr na, -1: -1
899MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenicChr na, -1: -1
900MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenicChr na, -1: -1
901MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenicChr na, -1: -1
902MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
903MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)SNVPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
904MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
905MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)SNVPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
906MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)SNVPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
907MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
908MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)SNVPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
909MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
910MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
911MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
912MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)SNVPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
913MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
914MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
915MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
916MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
917MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
918MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
919MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)SNVPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
920MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)SNVPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
921MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
922MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
923MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
924MSH2NM_000251.2(MSH2): c.1511-2A> GSNVPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
925MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenicChr na, -1: -1
926MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)SNVPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
927MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
928MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)SNVPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
929MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
930MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)SNVPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
931MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
932MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
933MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
934MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
935MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
936MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
937MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
938MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
939MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
940MSH2NM_000251.2(MSH2): c.1661+1G> ASNVLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
941MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)SNVPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
942MSH2NM_000251.2(MSH2): c.1662-1G> ASNVPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
943MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
944MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
945MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenicChr na, -1: -1
946MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenicChr na, -1: -1
947MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
948MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
949MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
950MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)SNVPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
951MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
952MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
953MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
954MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
955MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)SNVPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
956MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
957MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)SNVPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
958MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
959MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
960MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
961MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
962MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
963MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)SNVPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
964MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
965MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)SNVPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
966MSH2NM_000251.2(MSH2): c.1759+2T> ASNVPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
967MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
968MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)SNVPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
969MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
970MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
971MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenicChr na, -1: -1
972MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenicChr na, -1: -1
973MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
974MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)SNVPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
975MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
976MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)SNVPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
977MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
978MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
979MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
980MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
981MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
982MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)SNVPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
983MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
984MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)SNVPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
985MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
986MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)SNVPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
987MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
988MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)SNVPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
989MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
990MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
991MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
992MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)SNVPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
993MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
994MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
995MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
996MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
997MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
998MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)SNVPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
999MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1000MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1001MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1002MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1003MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1004MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1005MSH2NM_000251.2(MSH2): c.2005+1G> ASNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1006MSH2NM_000251.2(MSH2): c.2005+1G> TSNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1007MSH2NM_000251.2(MSH2): c.2005+2T> CSNVPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1008MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenicChr na, -1: -1
1009MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)SNVPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1010MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1011MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1012MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1013MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1014MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1015MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)SNVPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1016MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1017MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1018MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)SNVPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1019MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1020MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1021MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)SNVPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1022MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)SNVPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1023MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)SNVPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1024MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)SNVPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1025MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)SNVPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1026MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1027MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1028MSH2NM_000251.2(MSH2): c.212-1G> ASNVPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1029MSH2NM_000251.2(MSH2): c.212-478T> GSNVPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1030MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenicChr na, -1: -1
1031MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenicChr na, -1: -1
1032MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenicChr na, -1: -1
1033MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenicChr na, -1: -1
1034MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenicChr na, -1: -1
1035MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenicChr na, -1: -1
1036MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenicChr na, -1: -1
1037MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)SNVPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1038MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1039MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1040MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)SNVPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1041MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1042MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1043MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)SNVPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1044MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1045MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1046MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1047MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenicChr na, -1: -1
1048MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1049MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1050MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1051MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)SNVPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1052MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1053MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1054MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1055MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)SNVPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1056MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1057MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)SNVPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1058MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)SNVPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1059MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1060MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)SNVPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1061MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)SNVPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1062MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1063MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1064MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1065MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1066MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)SNVPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1067MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1068MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1069MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1070MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1071MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1072MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1073MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1074MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1075MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)SNVPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1076MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1077MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)SNVPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1078MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1079MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)SNVPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1080MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)SNVPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1081MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1082MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenicChr na, -1: -1
1083MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1084MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)SNVPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1085MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1086MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1087MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1088MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1089MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1090MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1091MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1092MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)SNVPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1093MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1094MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1095MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1096MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)SNVPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1097MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)SNVPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1098MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)SNVPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1099MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1100MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1101MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)SNVPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1102MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1103MSH2NM_000251.2(MSH2): c.2634+5G> CSNVPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1104MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)SNVPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1105MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47709918: 47710360
1106MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)SNVPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1107MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1108MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1109MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1110MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)SNVPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1111MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1112MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)SNVPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1113MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)SNVPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1114MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1115MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)SNVPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1116MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)SNVPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1117MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1118MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)SNVPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1119MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1120MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1121MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1122MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1123MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)SNVPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1124MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1125MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1126MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1127MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1128MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenicChr na, -1: -1
1129MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenicChr na, -1: -1
1130MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenicChr na, -1: -1
1131MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenicChr na, -1: -1
1132MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenicChr na, -1: -1
1133MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenicChr na, -1: -1
1134MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1135MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1136MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1137MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1138MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1139MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1140MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1141MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)SNVPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1142MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)SNVPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1143MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)SNVPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1144MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)SNVPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1145MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)SNVPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1146MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)SNVPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1147MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1148MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)SNVPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1149MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1150MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1151MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1152MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1153MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)SNVPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1154MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1155MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)SNVPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1156MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1157MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1158MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1159MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1160MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)SNVPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1161MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1162MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1163MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)SNVPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1164MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)SNVPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1165MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)SNVPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1166MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1167MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1168MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1169MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)SNVPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1170MSH2NM_000251.2(MSH2): c.645+1G> ASNVPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1171MSH2NM_000251.2(MSH2): c.645+1G> TSNVLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1172MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1173MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1174MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1175MSH2NM_000251.2(MSH2): c.646-3T> GSNVPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1176MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1177MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenicChr na, -1: -1
1178MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenicChr na, -1: -1
1179MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenicChr na, -1: -1
1180MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenicChr na, -1: -1
1181MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenicChr na, -1: -1
1182MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1183MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)SNVPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1184MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1185MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)SNVPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1186MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1187MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1188MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1189MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1190MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1191MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1192MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1193MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)SNVPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1194MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1195MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1196MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1197MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1198MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)SNVPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1199MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1200MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1201MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)SNVPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1202MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1203MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1204MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1205MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1206MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1207MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1208MSH2NM_000251.2(MSH2): c.792+1G> ASNVPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1209MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1210MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1211MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenicChr na, -1: -1
1212MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenicChr na, -1: -1
1213MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenicChr na, -1: -1
1214MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenicChr na, -1: -1
1215MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1216MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1217MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1218MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)SNVPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1219MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1220MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1221MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1222MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1223MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1224MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)SNVPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1225MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)SNVPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1226MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1227MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)SNVPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1228MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1229MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1230MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1231MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)SNVPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1232MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1233MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)SNVPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1234MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)SNVPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1235MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1236MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)SNVPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1237MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)SNVPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1238MSH2NM_000251.2(MSH2): c.943-1G> CSNVLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1239MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1240MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenicChr na, -1: -1
1241MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1242MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1243MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)SNVPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1244MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh37Chr 2, 47643462: 47643463
1245MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1246MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenicChr na, -1: -1
1247MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1248PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenicChr na, -1: -1
1249PMS2NM_000535.6(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1250PMS2NM_000535.6(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1251PMS2NM_000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1252PMS2NM_000535.6(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1253PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenicChr na, -1: -1
1254PMS2NM_000535.6(PMS2): c.1145-?_2174+?deldeletionPathogenicChr na, -1: -1
1255PMS2NM_000535.6(PMS2): c.1145-?_2445+?deldeletionPathogenicChr na, -1: -1
1256PMS2NM_000535.6(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1257PMS2NM_000535.6(PMS2): c.1261C> T (p.Arg421Ter)SNVPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1258PMS2NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1259PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1260PMS2NM_000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1261PMS2NM_000535.6(PMS2): c.1738A> T (p.Lys580Ter)SNVPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1262PMS2NM_000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1263PMS2NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1264PMS2NM_000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1265PMS2NM_000535.6(PMS2): c.1840A> T (p.Lys614Ter)SNVPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1266PMS2NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter)SNVPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1267PMS2NM_000535.6(PMS2): c.1939A> T (p.Lys647Ter)SNVPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1268PMS2NM_000535.6(PMS2): c.2174+1G> ASNVPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1269PMS2NM_000535.6(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1270PMS2NM_000535.6(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1271PMS2NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1272PMS2NM_000535.6(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1273PMS2NM_000535.6(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1274PMS2NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1275PMS2NM_000535.6(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1276PMS2NM_000535.6(PMS2): c.24-?_163+?deldeletionPathogenicChr na, -1: -1
1277PMS2NM_000535.6(PMS2): c.354-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1278PMS2NM_000535.6(PMS2): c.354-?_803+?deldeletionPathogenicChr na, -1: -1
1279PMS2NM_000535.6(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1280PMS2NM_000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1281PMS2NM_000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1282PMS2NM_000535.6(PMS2): c.697C> T (p.Gln233Ter)SNVPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1283PMS2NM_000535.6(PMS2): c.703C> T (p.Gln235Ter)SNVPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1284PMS2NM_000535.6(PMS2): c.706-?_803+?deldeletionPathogenicChr na, -1: -1
1285PMS2NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1286PMS2NM_000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1287PMS2NM_000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1288PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenicChr na, -1: -1
1289PMS2NM_000535.6(PMS2): c.804-?_2006+?deldeletionPathogenicChr na, -1: -1
1290PMS2NM_000535.6(PMS2): c.804-?_903+?deldeletionPathogenicChr na, -1: -1
1291PMS2NM_000535.6(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1292PMS2NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1293PMS2NM_000535.6(PMS2): c.904-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1294PMS2NM_000535.6(PMS2): c.904-?_1144+?deldeletionPathogenicChr na, -1: -1
1295PMS2NM_000535.6(PMS2): c.904-?_988+?deldeletionPathogenicChr na, -1: -1
1296PMS2NM_000535.6(PMS2): c.943C> T (p.Arg315Ter)SNVPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1297PMS2NM_000535.6(PMS2): c.949C> T (p.Gln317Ter)SNVPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1298PMS2NM_000535.6(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1299PMS2NM_000535.6(PMS2): c.989-2A> GSNVLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1300PMS2NM_000535.6(PMS2): c.989-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1301PMS2NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)SNVPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1302PMS2NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1303PMS2NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter)SNVPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1304PMS2NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh38Chr 7, 5989923: 5989923
1305PMS2NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter)SNVPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1306PMS2NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)SNVLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1307MSH6NM_000179.2(MSH6): c.3516_3517delAG (p.Arg1172Serfs)deletionPathogenicrs398123232GRCh37Chr 2, 48032126: 48032127

Copy number variations for Lynch Syndrome from CNVD:

6 (show all 23)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11343372168600000Copy numberMSH2Lynch syndrome
214564924180000047800000Copy numberMSH2Hereditary non-polyposis colorectal cancer
314623724748376647760012DeletionMSH2Hereditary non-polyposis colorectal cancer
414623824748376647760012DeletionMSH2Lynch syndrome
514624024748376647760012DuplicationMSH2Hereditary non-polyposis colorectal cancer
614625324748376647760012Genomic rearrangemen tMSH2Lynch syndrome
714625724748376647760012RearrangementMSH2Lynch syndrome
814628824763020647710367DeletionMSH2Hereditary non-polyposis colorectal cancer
914631824780000061300000Copy numberMSH6Hereditary non-polyposis colorectal cancer
1014632724786372447887596Copy numberMSH6Lynch syndrome
1114632924786372447887596DeletionMSH6Hereditary non-polyposis colorectal cancer
1214634324786372447887596Genomic rearrangemen tMSH6Lynch syndrome
131661033150600000Copy numberMLH1Lynch syndrome
1416877531330000039400000Copy numberLynch syndrome
1517499833700998237067341DeletionMLH1Hereditary non-polyposis colorectal cancer
1617499933700998237067341DeletionMLH1Lynch syndrome
1717500133700998237067341DuplicationMLH1Hereditary non-polyposis colorectal cancer
1817501433700998237067341Genomic rearrangemen tMLH1Lynch syndrome
1917501733700998237067341RearrangementMLH1Lynch syndrome
2017502333703484137092337MutationMLH1Hereditary non-polyposis colorectal cancer
212170787145400000Copy numberPMS2Lynch syndrome
22217125717200000DeletionPMS2Lynch syndrome
23244889912200000Copy numberLynch syndrome

Expression for genes affiliated with Lynch Syndrome

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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 Suite gene sharing:

(show all 39)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2MLH1, MSH2, TP53
210.2MLH1, MSH2, MSH6, PMS2
310.2BRAF, KRAS, PIK3CA
4
Show member pathways
10.2BRAF, KRAS, PIK3CA
510.1KRAS, PIK3CA, TP53
610.1BRAF, KRAS, TP53
710.1BRAF, KRAS, TP53
810.1BRAF, KRAS, TP53
910.1MSH6, POLE, TP53
10
Show member pathways
10.1BRCA1, BRCA2, MLH1, MLH3
11
Show member pathways
10.1KRAS, MLH1, MSH2, TP53
12
Show member pathways
10.0BRAF, BRCA1, KRAS, PIK3CA
13
Show member pathways
10.0BRAF, KRAS, PIK3CA, TGFBR2
14
Show member pathways
10.0KRAS, PIK3CA, TGFBR2, TP53
15
Show member pathways
10.0BRCA1, BRCA2, FAN1, MLH1, PMS2
1610.0BRAF, KRAS, PIK3CA, TP53
1710.0BRAF, KRAS, PIK3CA, TP53
18
Show member pathways
10.0BRAF, KRAS, PIK3CA, TP53
1910.0APC, BRAF, KRAS, TP53
20
Show member pathways
10.0BRCA1, BRCA2, EXO1, POLE
2110.0APC, MLH1, MSH2, PMS2, TP53
22
Show member pathways
10.0BRCA1, BRCA2, MSH2, MSH6, TP53
23
Show member pathways
9.9BRAF, KRAS, PIK3CA, TGFBR2, TP53
249.9APC, BRCA1, KRAS, PIK3CA, TP53
25
Show member pathways
9.9APC, BRAF, KRAS, PIK3CA, TP53
269.9BRCA1, MLH1, MSH2, MSH6, MUTYH, TP53
27
Show member pathways
9.9BRCA1, EXO1, MLH1, MSH2, PMS2, TP53
28
Show member pathways
9.8BRAF, BRCA2, KRAS, PIK3CA, TGFBR2, TP53
299.8APC, BRCA1, BRCA2, KRAS, PIK3CA, TP53
309.8APC, KRAS, PIK3CA, POLE, TGFBR2, TP53
31
Show member pathways
9.7BRAF, BRCA1, BRCA2, KRAS, MSH6, PIK3CA
32
Show member pathways
9.7BRCA1, BRCA2, MSH2, MSH3, MSH6, POLE
33
Show member pathways
9.7BRCA1, BRCA2, KRAS, MLH1, MSH2, MSH3
349.7BRAF, BRCA1, BRCA2, KRAS, MSH2, MSH6
35
Show member pathways
9.6EXO1, MLH1, MLH3, MSH2, MSH3, MSH6
369.5APC, BRAF, KRAS, MLH1, MSH2, MSH3
37
Show member pathways
9.4APC, BRAF, KRAS, MLH1, MSH2, MSH3
389.3APC, BRAF, BRCA2, KRAS, MLH1, MSH2
39
Show member pathways
9.2BRCA1, BRCA2, EXO1, FAN1, MLH1, MSH2

GO Terms for genes affiliated with Lynch Syndrome

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Cellular components related to Lynch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:003230111.1MSH2, MSH6
2MutSbeta complexGO:003230211.1MSH2, MSH3
3MutLalpha complexGO:003238911.0MLH1, PMS1, PMS2
4chiasmaGO:000571211.0MLH1, MLH3, PMS1
5condensed nuclear chromosomeGO:000079411.0BRCA1, MLH1, MLH3
6synaptonemal complexGO:000079510.2MLH1, MLH3, PMS1
7nucleoplasmGO:00056549.9APC, BRCA1, BRCA2, EXO1, FAN1, MLH1
8nucleusGO:00056349.4APC, BRAF, BRCA1, BRCA2, EXO1, FAN1

Biological processes related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300911.0BRCA1, BRCA2
2chromosome breakageGO:003105211.0BRCA1, BRCA2
3determination of adult lifespanGO:000834010.9MSH2, MSH6, TP53
4double-strand break repairGO:000630210.8BRCA1, BRCA2, MSH2
5DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.8BRCA1, BRCA2, TP53
6double-strand break repair via homologous recombinationGO:000072410.8BRCA1, BRCA2, FAN1
7maintenance of DNA repeat elementsGO:004357010.8MSH2, MSH3, MSH6
8meiotic mismatch repairGO:000071010.8MSH2, MSH3, MSH6
9postreplication repairGO:000630110.8BRCA1, MSH2
10negative regulation of DNA recombinationGO:004591010.8MSH2, MSH3, MSH6
11intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.8BRCA2, MSH2, TP53
12isotype switchingGO:004519010.7EXO1, MLH1, MSH2, MSH6
13positive regulation of helicase activityGO:005109610.7MSH2, MSH3, MSH6
14somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.7MLH1, MSH2
15nucleotide-excision repairGO:000628910.7BRCA2, FAN1, TP53
16DNA synthesis involved in DNA repairGO:000073110.7BRCA1,