MCID: LYN001
MIFTS: 69

Lynch Syndrome malady

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

Aliases & Classifications for Lynch Syndrome

About this section
Sources:
66UMLS, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 43NCIt, 38MESH via Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Lynch Syndrome:

Name: Lynch Syndrome 11 22 46 23 24 13 52 25 48
Hereditary Nonpolyposis Colorectal Cancer 11 46 24 66
Hnpcc 22 46 23 24
Hereditary Nonpolyposis Colorectal Neoplasms 24 66
Colorectal Cancer, Hereditary Nonpolyposis 46 25
Hereditary Non-Polyposis Colon Cancer 22 23
Familial Nonpolyposis Colon Cancer 46 24
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 66
Hereditary Defective Mismatch Repair Syndrome 11
Colorectal Neoplasms, Hereditary Nonpolyposis 37
 
Hereditary Non-Polyposis Colon Cancer Type 1 11
Hnpcc - Hereditary Nonpolyposis Colon Cancer 11
Hereditary Nonpolyposis Colorectal Neoplasm 11
Hereditary Nonpolyposis Colon Cancer 48
Colon Cancer, Familial Nonpolyposis 46
Cancer Family Syndrome 24
Lynch Syndrome 1 46
Lynch Syndrome 2 46
Coca 1 11
Coca1 46

Characteristics:

Orphanet epidemiological data:

52
lynch syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:3883
MeSH37 D003123
Orphanet52 ORPHA144
SNOMED-CT60 315058005
MESH via Orphanet38 D003123
ICD10 via Orphanet29 D48.9
UMLS via Orphanet67 C1333990

Summaries for Lynch Syndrome

About this section
Genetics Home Reference:24 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, small intestine and brain, and related mouse phenotypes are reproductive system and immune system.

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:46 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:69 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic... more...

GeneReviews summary 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 173)
idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome31.9MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
2mismatch repair cancer syndrome31.6MLH1, MSH2, MSH6, PMS1, PMS2
3prostate cancer29.0BRCA1, BRCA2, KRAS, MSH2, MSH6, PIK3CA
4hepatocellular carcinoma28.4CDKN2A, EPCAM, MSH2, PIK3CA, TGFBR2, TP53
5breast cancer28.2BRCA1, BRCA2, EPCAM, KRAS, MLH1, MSH2
6colorectal cancer28.2BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1
7tgbfr2-related lynch syndrome11.9
8mlh3-related lynch syndrome11.9
9mlh1-related lynch syndrome11.8
10msh2-related lynch syndrome11.8
11msh6-related lynch syndrome11.8
12pms2-related lynch syndrome11.8
13epcam-related lynch syndrome11.8
14pms1-related lynch syndrome11.8
15colorectal cancer, hereditary nonpolyposis, type 111.6
16spleen angiosarcoma11.1MLH1, MSH2, MSH6
17congenital pulmonary veins atresia or stenosis11.1BRCA1, BRCA2
18salivary gland adenoid cystic carcinoma11.0CDKN2A, TP53
19biliary papillomatosis11.0CDKN2A, TP53
20ampulla of vater squamous cell carcinoma11.0CDKN2A, MLH1, TP53
21solitary bone cyst11.0MLH1, MSH2, MSH6
22large intestine adenocarcinoma11.0MLH1, MSH2, MSH6, PMS2
23sleeping sickness11.0MLH1, MSH3, MSH6
24food allergy11.0MLH1, MSH2, MSH6, PMS1
25neurofibromatosis-noonan syndrome11.0MLH1, MSH2, MSH6, PMS2
26cervical serous adenocarcinoma11.0BRCA1, BRCA2, TP53
27acute perichondritis of pinna11.0MSH2, PMS1
28bronchopulmonary dysplasia11.0BRCA1, BRCA2
29pasli disease11.0MSH2, TP53
30cutaneous lupus erythematosus11.0BRCA1, BRCA2
31ovarian brenner tumor11.0BRCA1, BRCA2, TP53
32in situ carcinoma11.0MLH1, MSH2, MSH6, PMS2
33postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma11.0BRCA2, CDKN2A, PMS2
34autoimmune disease of blood11.0BRCA1, BRCA2
35selective ige deficiency disease11.0BRCA1, BRCA2
36fallopian tube germ cell cancer11.0BRCA1, BRCA2, CDKN2A
37familial breast cancer11.0BRCA1, BRCA2
38leiomyosarcoma11.0BRCA1, BRCA2, TP53
39distal monosomy 9p10.9BRCA1, BRCA2, TP53
40learning disability10.9CDKN2A, MLH1, TP53
41prostate embryonal rhabdomyosarcoma10.9MSH2, MSH6, PMS2, TP53
42myasthenia gravis, limb-girdle10.9BRCA1, BRCA2, TP53
43neuropathy, distal hereditary motor, type viib10.9EPCAM, MLH1, MSH2, MSH6, PMS2
44split hand split foot malformation autosomal recessive10.9CDKN2A, TP53
45subependymal glioma10.9MLH1, MSH2, MSH6, PMS1, PMS2
46lung carcinoma in situ10.9BRCA1, BRCA2, TP53
47cecum lymphoma10.9MSH2, MUTYH, PMS1
48breast cancer, childhood10.9BRCA1, BRCA2
49acquired amegakaryocytic thrombocytopenia10.9MSH2, MSH6, MUTYH
50pineal region meningioma10.9BRCA1, BRCA2, TP53

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



Diseases related to lynch syndrome

Symptoms for Lynch Syndrome

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HPO human phenotypes related to Lynch Syndrome:

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

Drugs & Therapeutics for Lynch Syndrome

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

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BevacizumabPhase 3, Phase 11938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
LevonorgestrelPhase 3, Phase 2288797-63-7, 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
3
LoperamidePhase 314053179-11-63955
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
OxaliplatinPhase 3136661825-94-35310940, 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
LevoleucovorinPhase 369668538-85-2
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
6
leucovorinPhase 3104758-05-9143, 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
7
FluorouracilPhase 3172851-21-83385
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
8
AspirinPhase 3107450-78-22244
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
9COLANutraceuticalPhase 3, Phase 2, Phase 11824
10FolateNutraceuticalPhase 34143
11
Folic AcidNutraceuticalPhase 3414359-30-36037
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
12
Medroxyprogesterone acetatePhase 214071-58-9
Synonyms:
(6alpha)-17-(Acetyloxy)-6-methylpreg-4-ene-3,20-dione
17-Acetoxy-6alpha-methylprogesterone
17-Acetoxy-6α-methylprogesterone
17alpha-Hydroxy-6alpha-methylprogesterone acetate
17α-hydroxy-6α-methylprogesterone acetate
6-alpha-Methyl-17-alpha-acetoxyprogesterone
6-alpha-Methyl-17-alpha-hydroxyprogesterone acetate
6alpha-Methyl-17-acetoxy progesterone
 
6alpha-Methyl-17alpha-hydroxyprogesterone acetate
6alpha-Methyl-4-pregnene-3,20-dion-17alpha-ol acetate
6α-Methyl-17-acetoxy progesterone
6α-Methyl-17α-hydroxyprogesterone acetate
MPA
Medroxyacetate progesterone
Medroxyprogesterone 17-acetate
Medroxyprogesterone acetate
Methylacetoxyprogesterone
Metigestrona
13
NorgestrelPhase 2576533-00-213109
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
14
CelecoxibPhase 2, Phase 1427169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
15
Ethinyl EstradiolPhase 270457-63-65991
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
16
MedroxyprogesteronePhase 2140520-85-410631
Synonyms:
(6S,8R,9S,10R,13S,14S,17R)-17-acetyl-17-hydroxy-6,10,13-trimethyl-2,6,7,8,9,11,12,14,15,16-decahydro-1H-cyclopenta[a]phenanthren-3-one
(6alpha)-17-hydroxy-6-methylpregn-4-ene-3,20-dione
17 alpha Hydroxy 6 alpha Methylprogesterone
17 alpha-Hydroxy-6 alpha-Methylprogesterone
17-Hydroxy-6.alpha.-methylprogesterone
17-Hydroxy-6a-methylprogesterone
17-Hydroxy-6alpha-methyl-pregn-4-ene-3,20-dione
17-Hydroxy-6alpha-methylprogesterone
17.alpha.-Hydroxy-6.alpha.-methylprogesterone
17alpha-Hydroxy-6alpha-methyl-4-pregnene-3,20-dione
17alpha-Hydroxy-6alpha-methylprogesterone
4-08-00-02211 (Beilstein Handbook Reference)
46411_FLUKA
46411_RIEDEL
520-85-4
6-Dihydromegestrol
6-alpha-Methyl-17-alpha-hydroxyprogesterone
6.alpha.-Methyl-17.alpha.-hydroxyprogesterone
6alpha-Methyl-17alpha-hydroxyprogesterone
6alpha-Methyl-4-pregnen-17alpha-ol-3,20-dione
6alpha-Methyl-5-pregnen-17alpha-ol-3,20-dione
AC-14528
AC1L1VM7
Adgyn Medro
Aragest
Aragest 5
Asconale
BRN 2510965
C07119
CBP-1011
CHEBI:6715
CHEMBL1390
CID10631
CPD000058769
Clinofem
Clinovir
Colirest
Cycrin
D008525
D08166
DB00603
DMPA
Depo-Clinovir
Depo-Prodasone
Depo-Progestin
Depo-Promone
Depo-Provera
Depo-Subq Provera 104
Depot-Medroxyprogesterone acetate
EINECS 208-298-6
Farlutal
Farlutal inyectable
Farlutal inyectable (TN)
Farlutin
G-Farlutal
Gestapuran
HMS2052A13
HSDB 3114
Hematrol
Hydroxymethylprogesterone
Hysron
 
Indivina
LMST02030176
LS-118713
Lunelle
Lutopolar
Lutoral
M6013_SIGMA
MAP
MLS000069571
MLS001076098
MPA Gyn 5
Med-Pro
Medroprogesterone Acetate
Medrossiprogesterone
Medrossiprogesterone [DCIT]
Medrossiprogesterone [Dcit]
Medroxiprogesterona
Medroxiprogesterona [INN-Spanish]
Medroxiprogesteronum
Medroxyprogesteron
Medroxyprogesteron acetate
Medroxyprogesterone (INN)
Medroxyprogesterone Acetate
Medroxyprogesterone Strakan Brand
Medroxyprogesterone [INN:BAN]
Medroxyprogesteronum
Medroxyprogesteronum [INN-Latin]
Meprate
Methylhydroxyprogesterone
Metigestrona
MolPort-005-934-866
NCGC00023064-04
NSC 27408
NSC27408
Nadigest
Nidaxin
Novo-Medrone
Oragest
Perlutex
Perlutex Leo
Pregn-4-ene-3,20-dione, 17-hydroxy-6-methyl-, (6-alpha)- (9CI)
Pregn-4-ene-3,20-dione, 17-hydroxy-6-methyl-, (6alpha)- (9CI)
Prodasone
Progestalfa
Progevera
Provera
Proverone
Ralovera
Repromap
Repromix
SAM001246906
SMR000058769
ST082267
Sirprogen
Sodelut G
Strakan Brand of Medroxyprogesterone
U 8840
UNII-HSU1C9YRES
Veramix
ZINC05763835
g-Farlutal
medroxyprogesterone
17
EstradiolPhase 2125050-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
18Estradiol valeratePhase 21250979-32-8
19MesalaminePhase 215689-57-6
20
EflornithinePhase 23570052-12-93009
Synonyms:
(RS)-2,5-diamino-2-(difluoromethyl)pentanoic acid
.alpha.-DFMO HCl
2,5-diamino-2-(difluoromethyl)pentanoic acid
2,5-diamino-2-(difluoromethyl)pentanoic acid hydrate hydrochloride
2,5-diamino-2-(difluoromethyl)pentanoic acid hydrochloride
2-(Difluoromethyl)-DL-ornithine
2-(Difluoromethyl)-DL-ornithine HCl
2-(Difluoromethyl)-DL-ornithine hydrochloride
2-(Difluoromethyl)-DL-ornithine monohydrochloride
2-(Difluoromethyl)-DL-ornithine monohydrochloride, monohydrate
2-(Difluoromethyl)-DL-ornithine monohydrochloride.monohydrate
2-(Difluoromethyl)ornithine
2-(Difluoromethyl)ornithine hydrochloride hydrate
67037-37-0
68278-23-9
70050-56-5
70052-12-9
70052-12-9 (Parent)
96020-91-6
96020-91-6 (mono-hydrochloride, monohydrate)
AC-388
AC-5497
AC1L1EYW
AC1L1M41
AC1L9B1G
BMS 203522
BRN 2250529
C07997
C6H12F2N2O2.HCl.H2O
CCRIS 3295
CCRIS 3718
CCRIS 5805
CHEBI:41948
CHEMBL1201037
CHEMBL536971
CID3009
CID441361
CID57004
CPP-1X
D,L-alpha-Difluoromethylornithine
D,L-alpha-Difluoromethylornithine hydrochloride
D00829
D07883
D193_SIGMA
DFMO
DFMO (growth regulator)
DFMO HCl
DFMO hydrochloride
DFMO hydrochloride hydrate
DL-.alpha.-Difluoromethylornithine
DL-Ornithine, 2-(difluoromethyl)-, monohydrochloride
DL-Ornithine, 2-(difluoromethyl)-, monohydrochloride, monohydrate
DL-alpha-(Difluoromethyl)ornithine
DL-alpha-Difluoromethylornithine
DL-alpha-Difluoromethylornithine hydrochloride
 
DL-alpha-Difluoromethylornithine hydrochloride hydrate
DL-alpha-Difluoromethylornithine, Hydrochloride
Difluoromethylornithine
Difluromethylornithine
EFLORNITHINE
EFLORNITHINE HYDROCHLORIDE
EINECS 269-532-0
EU-0100429
Eflornithine (INN)
Eflornithine HCl
Eflornithine [INN:BAN]
Eflornithine hydrochloride (USAN)
Eflornithine hydrochloride [USAN]
Eflornithine hydrochloride hydrate
Eflornithine hydrochloride monohydrate
Eflornithinum
Eflornithinum [Latin]
Eflornitina
Eflornitina [Spanish]
FT-0082608
FT-0082826
HSCI1_000267
I06-0316
I06-0530
LS-178282
LS-185084
LS-7332
LS-98405
Lopac0_000429
MDL 71,782 A
MDL 71782
MDL-71782A
MLS000069341
MLS001332583
MolPort-003-940-991
N-Difluoromethylornithine
NCGC00015316-03
NCGC00093850-01
NCGC00162152-01
NSC270295
NSC337250
Ornidyl
Ornidyl (TN)
Ornithine, 2-(difluoromethyl)-, monohydrochloride
RMI 71782
RMI-71782
SBB066102
SMR000058442
UNII-4NH22NDW9H
UNII-ZQN1G5V6SR
Vaniqa
alpha,delta-Diamino-alpha-(difluoromethyl)valeric acid
alpha-(Difluoromethyl)-DL-ornithine
alpha-Difluoromethylornithine
alpha-Difluoromethylornithine hydrochloride
dfmo
α-difluoromethylornithine
21
ornithineNutraceuticalPhase 26770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
22
NaproxenPhase 124822204-53-11302, 156391
Synonyms:
(+)-(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(+)-(S)-Naproxen
(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(+)-2-(Methoxy-2-naphthyl)-propionic acid
(+)-2-(Methoxy-2-naphthyl)-propionsaeure
(+)-2-(Methoxy-2-naphthyl)-propionsaeure [German]
(+)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(+)-Naproxen
(+)NAPROXEN
(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid
(S)-()-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-()-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-(+)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-(+)-Naproxen
(S)-2-(6-Methoxy-2-naphthyl)propanoic acid
(S)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-6-Methoxy-.alpha.-methyl-2-naphthaleneacetic acid
(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-Naproxen
2-(6-Methoxy-2-naphthyl)propionic acid
2-Naphthaleneacetic acid, 6-methoxy-alpha-methyl-, (+)- (8CI)
22204-53-1
284785_ALDRICH
46482_FLUKA
46482_RIEDEL
65126_FLUKA
AC-1363
AC1L4G3X
AC1Q4ET9
AC1Q4F4H
AC1Q4F4I
ARONIS24306
Acusprain
Aleve
Anaprox
Anax
Anexopen
Apo-Napro-NA
Apo-Naproxen
Apronax
Artagen
Arthrisil
Artrixen
Artroxen
Atiflan
Axer
BIDD:GT0062
BRD-K59197931-001-02-9
BRD-K59197931-236-09-6
BSPBio_002067
Bipronyl
Bonyl
CAS-22204-53-1
CCRIS 5265
CG 3117
CHEBI:7476
CHEMBL154
CID156391
Calosen
Clinosyn
Congex
D-Naproxen
DB08298
DL Naproxen
DL-Naproxen
Danaprox
Daprox
Diocodal
DivK1c_000242
Duk
Dysmenalgit
Dysmenalgit N
EINECS 244-838-7
Ec-Naprosyn
Equiproxen
Equiproxen (Veterinary)
FT-0082415
Flanax Forte
Flexen
Flexipen
Floginax
Fuxen
Genoxen
HMS1920P13
HMS2089N21
HMS2091H12
HMS500M04
HSDB 3369
Headlon
IDI1_000242
InChI=1/C14H14O3/c1-9(14(15)16)10-3-4-12-8-13(17-2)6-5-11(12)7-10/h3-9H,1-2H3,(H,15,16)/t9-/m0/s1
KBio1_000242
KBio2_001457
KBio2_004025
KBio2_006593
KBio3_001567
KBioGR_000597
KBioSS_001457
LS-124738
Laraflex
 
Lefaine
Leniartil
Lopac0_000792
M1021
Methoxypropiocin
MolPort-000-145-960
N8280_SIAL
NAPROXEN
NCGC00016759-01
NCGC00021127-01
NCGC00161591-01
NINDS_000242
NPS
Nafasol
Naixan
Nalyxan
Napflam
Napmel
Naposin
Napratec
Naprelan
Napren
Napren E
Naprius
Naprolag
Naprontag
Naprosin
Naprosyn LLE
Naprosyn LLE Forte
Naprosyne
Naproxen
Naproxen Sodium
Naproxen [USAN:BAN:INN:JAN]
Naproxene
Naproxene [INN-French]
Naproxeno
Naproxeno [INN-Spanish]
Naproxenum
Naproxenum [INN-Latin]
Naproxi 250
Naproxi 500
Naproxène
Napxen
Narma
Narocin
Naxen
Naxen F
Naxopren
Naxyn
Naxyn 250
Naxyn 500
Noflam
Novonaprox
Nycopren
Opipramol
Patxen
Prafena
Prestwick0_000791
Prestwick1_000791
Prestwick2_000791
Prestwick_349
Prexan
Priaxen
Pronaxen
Proxen LE
Proxen LLE
RS 3540
RS-3540
Rahsen
Reuxen
Rheumaflex
Roxen
SPBio_000966
SPBio_002861
SPECTRUM1500425
SR-01000075977-3
STOCK1N-50633
Saritilron
Sinartrin
Sinton
Soproxen
Spectrum2_001043
Spectrum3_000514
Spectrum4_000069
Spectrum5_001327
Spectrum_000977
Sutolin
Sutony
TL8003659
Tohexen
Traumox
U-Ritis
UNII-57Y76R9ATQ
UPCMLD-DP001
UPCMLD-DP001:001
Velsay
Veradol
Vinsen
Xenar
d-2-(6'-Methoxy-2'-naphthyl)-propionsaeure
d-2-(6'-Methoxy-2'-naphthyl)-propionsaeure [German]
d-2-(6-Methoxy-2-naphthyl)propionic acid
d-Naproxen
23
nivolumab254946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
24
Secretin31108153-74-8
Synonyms:
108153-74-8
1393-25-5
67307-60-2 (citrate (salt))
9002-77-1
EINECS 215-733-3
Hormone of the duodenal mucosa that activates pancreatic secretion and lowers the blood sugar level
Human secretin
I06-1828
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-aspartyl-L-seryl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-glutamylglycyl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
LS-144747
RG 1068
SECREFLO
SECRETIN
SECRETIN-FERRING
 
SecreFlow
Secrepan
Secretin (human)
Secretin (porcine)
Secretin [INN:BAN:DCF:JAN]
Secretin-Kabi
Secretina
Secretina [INN-Spanish]
Secretine
Secretine [INN-French]
Secretinum
Secretinum [INN-Latin]
Secretolin
UNII-88C55N56UU
UNII-A0426J905J
Vitrum
25
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
26pancreatin917
27
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
28
CaffeineNutraceutical35858-08-22519
Synonyms:
07E4FB58-FD79-4175-8E3D-05BF96954522
1,3,7-Trimethyl-2,6-dioxopurine
1,3,7-Trimethyl-3,7-dihydro-1H-purine-2,6-dione
1,3,7-Trimethylpurine-2,6-dione
1,3,7-Trimethylxanthine
1,3,7-trimethylpurine-2,6-dione
1,3,7-trimethylxanthine
1-3-7-TRIMETHYLXANTHINE
1-Methyl-Theobromine
1-methyltheobromine
137X
1gfz
1l5q
1l7x
27602_FLUKA
2a3b
3,7-Dihydro-1,3,7-trimethyl-1H-purin-2,6-dion
3,7-Dihydro-1,3,7-trimethyl-1H-purine-2,6-dione
3,7-dihydro-1,3,7-trimethyl-1H-purine
5-26-13-00558 (Beilstein)
58-08-2
7-Methyl Theophylline
7-Methyltheophylline
7-methyltheophylline
71701-02-5
75035_FLUKA
95789-13-2
A.S.A. and Codeine Compound
AC-12774
AC1L1DV2
AC1Q3Z23
ACon1_000085
AI3-20154
AKOS000121334
Alert-Pep
Alert-pep
Anacin Maximum Strength
Anhydrous caffeine
Anhydrous caffeine (JP15)
Anhydrous caffeine (TN)
Anoquan
BIDD:ER0554
BIDD:GT0632
BIDD:PXR0172
BIM-0050216.0001
BRD-K02404261-001-02-7
BRD-K02404261-001-03-5
BRN 0017705
BSPBio_001921
Berlin-Chemie Brand of Caffeine
Bio-0579
Bio1_000473
Bio1_000962
Bio1_001451
Bristol-Myers Squibb Brand of Caffeine
C 0750
C07481
C0750_SIAL
C1778_SIAL
C2042
C6035_FLUKA
C6035_SIGMA
C7731_SIAL
C8960_SIAL
CCRIS 1314
CFF
CHEBI:27732
CHEMBL113
CID2519
CU-01000012617-3
Cafamil
Cafcit
Cafecon
Cafeina
Cafergot
Cafeína
Caffedrine
Caffedrine Caplets
Caffein
Caffeina
Caffeina [Italian]
Caffeine
Caffeine (USP)
Caffeine (natural)
Caffeine Pure
Caffeine [BAN:JAN]
Caffeine solution
Caffeine, Anhydrous
Caffeine, Monohydrate
Caffeine, Synthetic
Caffeine, anhydrous
Caffeine, synthetic
Caffine
Cafipel
Caféine
Coffein
Coffein [German]
Coffeine
Coffeinum
Coffeinum N
Coffeinum Purrum
Compound 65
D002110
D00528
DB00201
DHC Plus
DHCplus
Darvon Compound
Darvon Compound-65
Dasin
Dexitac
Dexitac Stay Alert Stimulant
Dhc Plus
Diurex
DivK1c_000730
Durvitan
EINECS 200-362-1
EU-0100228
Eldiatric C
Enerjets
Ercatab
Esgic
Esgic-Plus
FEMA No. 2224
Femcet
Fioricet
Fiorinal
GlaxoSmithKline Brand of Caffeine
Guaranine
HMS1920I09
HMS2091O11
HMS502E12
HSDB 36
Hycomine
Hycomine Compound
I14-4386
IDI1_000730
 
Invagesic
Invagesic Forte
KBio1_000730
KBio2_001781
KBio2_004349
KBio2_006917
KBio3_001141
KBioGR_002325
KBioSS_001781
Keep Alert
Kofein
Kofein [Czech]
Koffein
Koffein [German]
L000155
LS-237
Lanorinal
Lopac-C-0750
Lopac0_000228
MEGxp0_001350
MLS001055341
MLS001056714
MLS001066409
Mateina
Mateína
Maximum Strength Snapback Stimulant Powders
Medigesic Plus
Merck dura Brand of Caffeine
Methyltheobromide
Methyltheobromine
Methylxanthine theophylline
Midol Maximum Strength
Migergot
Miudol
MolMap_000054
MolPort-000-730-850
Monohydrate Caffeine
Monomethyl Derivative of Theophylline
Monomethyl derivative of Theophylline
NCGC00015208-01
NCGC00015208-02
NCGC00015208-04
NCGC00015208-14
NCGC00090699-01
NCGC00090699-02
NCGC00090699-03
NCGC00090699-04
NCGC00090699-05
NCGC00090699-06
NCGC00090699-07
NCGC00090699-08
NCGC00090699-09
NCGC00168808-01
NCGC00168808-02
NCI-C02733
NCIOpen2_008255
NINDS_000730
NSC 5036
NSC5036
Natural Caffeinum
Nix Nap
No Doz
No-Doz
Nodaca
Nodoz Maximum Strength Caplets
Norgesic
Norgesic Forte
Organex
Orphengesic
Orphengesic Forte
P-A-C Analgesic Tablets
PDSP1_001016
PDSP1_001235
PDSP2_001000
PDSP2_001219
Passauer Brand of Caffeine
Pep-Back
Percoffedrinol N
Percutafeine
Phensal
Pierre Fabre Brand of Caffeine
Probes1_000150
Probes2_000128
Propoxyphene
Propoxyphene Compound 65
Propoxyphene Compound-65
Quick Pep
Quick-Pep
Refresh'n
Republic Drug Brand of Caffeine
SDCCGMLS-0064595.P001
SDCCGMLS-0064595.P002
SK 65 Compound
SK-65 Compound
SMR000326667
SPBio_001222
SPECTRUM1500155
STK177283
Seid Brand of Caffeine
Spectrum2_001261
Spectrum3_000321
Spectrum4_001782
Spectrum5_000423
Spectrum_001301
Stim
Synalgos-Dc
TNP00310
Teina
Thein
Theine
Theobromine ME
Theobromine Me
Theophylline ME
Theophylline Me
Theophylline, 7-methyl
Thompson Brand 1 of Caffeine
Thompson Brand 2 of Caffeine
Tirend
Tri-Aqua
Triad
UNII-3G6A5W338E
Ultra Pep-Back
Vivarin
W222402_ALDRICH
WLN: T56 BN DN FNVNVJ B1 F1 H1
Wake-Up
Wigraine
Xanthine, 1,3,7-trimethyl
ZINC00001084
bmse000206
cafeine
caffeine
caffenium
component of Cafergot
nchembio.243-comp7
nchembio.63-comp5
nchembio774-comp2
teina

Interventional clinical trials:

(show top 50)    (show all 70)
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
13Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous PolyposisTerminatedNCT00033371Phase 2
14Phase 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
15Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
16Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous PolyposisCompletedNCT00685568Phase 1
17Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
18A Social Media Approach to Improve Genetic Risk Communication Phase IActive, not recruitingNCT01645904Phase 1
19Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer SurveillanceCompletedNCT00313755
20Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal CancerCompletedNCT00450424
21Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00508846
22Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
23Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00004210
24Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch SyndromeCompletedNCT00905710
25Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00341575
26Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch SyndromeCompletedNCT00898768Phase 0
27Molecular Screening for Lynch Syndrome in Southern DenmarkCompletedNCT01216930
28Integrating Genetic Testing for Lynch Syndrome in a Managed Care SettingCompletedNCT01582841
29Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
30Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
31Combined Colon and Endometrial Cancer Screening in Women With HNPCCCompletedNCT00510796
32Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402
33Oligogenic Determinism of Colorectal CancerCompletedNCT01057953
34What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate?CompletedNCT01692977
35Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
36Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal CancerRecruitingNCT00675636
37The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)RecruitingNCT01447199
38Implementation of a New Strategy to Identify HNPCC PatientsRecruitingNCT00141466
39Registry for Women Who Are At Risk Or May Have Lynch SyndromeRecruitingNCT00508573
40I-Scan For Colon Polyp Detection In HNPCCRecruitingNCT01823471
41Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
42Survivorship in Lynch Syndrome FamiliesRecruitingNCT01126840
43The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
44Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer SyndromesRecruitingNCT02198092
45Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
46Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian CancerRecruitingNCT02494791
47Multi-Organ Screening Recommendations in Patients With Lynch SyndromeRecruitingNCT00582296
48Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis SyndromesRecruitingNCT02371135
49Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
50Cancer Research Repository for Individuals With Cancer Diagnosis and High Risk Individuals.RecruitingNCT02012699

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 Syndrome25 23
2 Hereditary Nonpolyposis Colorectal Carcinoma25

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

34
Colon, Small intestine, Brain, Skin, Testes, Ovary, Liver

Animal Models for Lynch Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Lynch Syndrome:

39 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.8BRCA1, BRCA2, CDKN2A, KRAS, MLH1, MLH3
2MP:00053879.7BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MSH2
3MP:00053979.7BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MSH2
4MP:00053819.7BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1
5MP:00053809.6BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, PIK3CA
6MP:00107719.5BRCA1, BRCA2, CDKN2A, KRAS, MLH1, MSH2
7MP:00053849.3BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1
8MP:00036319.2BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MSH2
9MP:00053799.0BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1
10MP:00020069.0BRCA1, BRCA2, CDKN2A, KRAS, MLH1, MSH2
11MP:00053768.8BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1
12MP:00107688.6BRCA1, BRCA2, CDKN2A, EPCAM, KRAS, MLH1

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50)    (show all 685)
idTitleAuthorsYear
1
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression. (27168032)
2016
2
Depressed-type submucosal invasive colorectal cancer in a patient with Lynch syndrome diagnosed using short-interval colonoscopy. (27500781)
2016
3
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. (27398995)
2016
4
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. (27013479)
2016
5
Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome. (27602130)
2016
6
Enhanced gene targeting to evaluate Lynch syndrome alterations. (27035997)
2016
7
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study. (26393997)
2015
8
Gastroenterology: Video capsule endoscopy disclosure of unprecedented therapeutic effect of Eviendep on small bowel polyposis in Lynch syndrome. (25865861)
2015
9
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression. (25871621)
2015
10
Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome. (25782445)
2015
11
Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice. (26480326)
2015
12
Estimating successive cancer risks in Lynch Syndrome families using a progressive three-state model. (23946183)
2014
13
BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines. (25076244)
2014
14
Identifying Persons with Lynch Syndrome: Why and How? (25344908)
2014
15
Balancing Life with an Increased Risk of Cancer: Lived Experiences in Healthy Individuals with Lynch Syndrome. (24399096)
2014
16
Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome. (25297893)
2014
17
Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case. (23896635)
2013
18
Colorectal surveillance in Lynch syndrome families. (23525799)
2013
19
Value-based healthcare in Lynch syndrome. (23681793)
2013
20
New genetic variants of genes MMR in a Spanish family with Lynch syndrome. (23224667)
2013
21
Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. (23639899)
2013
22
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients. (23531357)
2013
23
The role of religious and existential well-being in families with Lynch syndrome: prevention, family communication, and psychosocial adjustment. (23345057)
2013
24
Commentary on "Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome." Win AK, Lindor NM, Young JP, Macrae FA, Young GP, Williamson E, Parry S, Goldblatt J, Lipton L, Winship I, Leggett B, Tucker KM, Giles GG, Buchanan DD, Clendenning M, Rosty C, Arnold J, Levine AJ, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Hopper JL, Jenkins MA, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Victoria, Australia: J Natl Cancer Inst 2012;104(18):1363-72 [Epub 2012 Aug 28]. (23796201)
2013
25
Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives. (24056992)
2013
26
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. (21520036)
2012
27
Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. (22595844)
2012
28
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. (22388758)
2012
29
Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome. (22086974)
2012
30
Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. (22124091)
2012
31
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. (22167527)
2012
32
Hereditary nonpolyposis colorectal cancer (Lynch syndrome I) in a 15-year-old male. (22200794)
2012
33
Lynch syndrome: history, causes, diagnosis, treatment and prevention (CAPP2 trial). (23207931)
2012
34
Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer a8o 70 years. (22306203)
2012
35
Testing women with endometrial cancer to detect Lynch syndrome. (21537049)
2011
36
Prospective study of combined colon and endometrial cancer screening in women with lynch syndrome: a patient-centered approach. (21532810)
2011
37
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome. (21115857)
2011
38
Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: from the revised Bethesda guidelines to a universal approach. (21879804)
2011
39
Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (20706999)
2010
40
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. (20587412)
2010
41
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. (19250818)
2009
42
The identification of Lynch syndrome in British Columbia. (19893772)
2009
43
Commentary: The shifting role of family history in Lynch syndrome diagnosis. (19508539)
2009
44
Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model. (19654196)
2009
45
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
46
Novel approaches in evaluation of pathogenicity of single-base exonic germline changes involving the mismatch repair genes MLH1 and MSH2 in diagnostics of Lynch syndrome. (18999873)
2008
47
Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer). (18081655)
2007
48
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. (17312306)
2007
49
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
50
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). (8600057)
1996

Variations for Lynch Syndrome

About this section

Clinvar genetic disease variations for Lynch Syndrome:

5 (show all 1,293)
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)single nucleotide variantPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
3MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
4PMS2NM_000535.6(PMS2): c.1376C> A (p.Ser459Ter)single nucleotide variantPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
5PMS2NM_000535.6(PMS2): c.904-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs587781339GRCh37Chr 7, 6031690: 6031690
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> Gsingle nucleotide variantPathogenicrs267607712GRCh38Chr 3, 36996617: 36996617
13MSH6NM_000179.2(MSH6): c.1705_1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
14EPCAMNM_002354.2(EPCAM): c.556-14A> Gsingle nucleotide variantPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
15PMS2NM_000535.6(PMS2): c.1144+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
16MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
17MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
18MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
19MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
20MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
21MLH1MLH1, EX16DELdeletionPathogenic
22MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
23MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
24MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
25MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
26MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenic
27MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
28MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
29MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
30MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
31MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
32MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
33MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
34MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
35MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
36MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
37MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
38MSH2MSH2, EX1-6 DELdeletionPathogenic
39MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
40MSH6NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter)single nucleotide variantPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
41MSH6NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
42PMS2NM_000535.6(PMS2): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
43PMS2NM_000535.6(PMS2): c.765C> A (p.Tyr255Ter)single nucleotide variantPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
44MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)single nucleotide variantLikely 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> Tsingle nucleotide variantLikely 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)single nucleotide variantPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
50PMS2NM_000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh37Chr 7, 6026522: 6026522
51MSH6NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
52EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenic
53MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
54MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh37Chr 2, 47705481: 47705481
55PMS2NM_000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh37Chr 7, 6027211: 6027211
56MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
57MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)single nucleotide variantPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
58MSH6NM_000179.2(MSH6): c.1108_1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
59MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh37Chr 2, 47635589: 47635589
60MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh37Chr 3, 37035039: 37035154
61MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
62MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
63MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
64MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
65MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
66MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
67MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh37Chr 2, 48030821: 48030821
68MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)single nucleotide variantPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
69MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
70MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh38Chr 2, 47403191: 47416429
71MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
72MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
73PMS2NM_000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
74PMS2NM_000535.6(PMS2): c.1297A> T (p.Lys433Ter)single nucleotide variantPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
75PMS2NM_000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
76PMS2NM_000535.6(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
77PMS2NM_000535.6(PMS2): c.989-?_1144+?deldeletionPathogenic
78MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh38Chr 2, 47799593: 47799596
79MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
80MSH6NM_000179.2(MSH6): c.3332_3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh37Chr 2, 48030718: 48030721
81MSH6NM_000179.2(MSH6): c.3528_3532delACTTG (p.Leu1177Cysfs)deletionLikely pathogenic, Pathogenicrs863225408GRCh38Chr 2, 47804999: 47805003
82MSH6NM_000179.2(MSH6): c.4028C> G (p.Ser1343Ter)single nucleotide variantPathogenicrs863225420GRCh38Chr 2, 47806805: 47806805
83MSH6NM_000179.2(MSH6): c.3632T> C (p.Leu1211Pro)single nucleotide variantPathogenicrs864622041GRCh37Chr 2, 48032832: 48032832
84MSH2NM_000251.2(MSH2): c.1963_1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh37Chr 2, 47702367: 47702368
85MSH6NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter)single nucleotide variantPathogenicrs864622153GRCh38Chr 2, 47799674: 47799674
86MSH2NM_000251.2(MSH2): c.748G> T (p.Gly250Ter)single nucleotide variantPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
87PMS2NM_000535.6(PMS2): c.121G> T (p.Glu41Ter)single nucleotide variantPathogenicrs3209663GRCh37Chr 7, 6045565: 6045565
88MSH6NM_000179.2(MSH6): c.458-?_3172+?deldeletionPathogenic
89MSH6NM_000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
90MSH2NM_000251.2(MSH2): c.819_821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
91PMS2NM_000535.6(PMS2): c.538-?_903+?deldeletionPathogenic
92MSH2NM_000251.2(MSH2): c.842C> G (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
93MSH2NM_000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
94MLH1NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter)single nucleotide variantPathogenicrs267607823GRCh37Chr 3, 37067335: 37067335
95EPCAMNM_002354.2(EPCAM): c.491+1G> Tsingle nucleotide variantPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
96MSH6NM_000179.2(MSH6): c.3526A> T (p.Arg1176Ter)single nucleotide variantPathogenicrs786203968GRCh37Chr 2, 48032136: 48032136
97PMS2NM_000535.6(PMS2): c.2276-?_2445+?deldeletionPathogenic
98MSH6NM_000179.2(MSH6): c.1387G> T (p.Glu463Ter)single nucleotide variantPathogenicrs864622435GRCh38Chr 2, 47799370: 47799370
99MSH2NM_000251.2(MSH2): c.1563T> A (p.Tyr521Ter)single nucleotide variantPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
100MSH2NM_000251.2(MSH2): c.421_422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh37Chr 2, 47637287: 47637288
101MSH6NM_000179.2(MSH6): c.2308_2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh37Chr 2, 48027430: 48027434
102PMS2NM_000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh38Chr 7, 5987015: 5987015
103MLH1NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
104MSH2NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
105MSH6NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
106MSH6NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
107PMS2NM_000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh38Chr 7, 5987265: 5987265
108MSH2NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter)single nucleotide variantPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
109PMS2NM_000535.6(PMS2): c.851C> G (p.Ser284Ter)single nucleotide variantPathogenicrs587782898GRCh37Chr 7, 6035217: 6035217
110MSH6NM_000179.2(MSH6): c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
111PMS2NM_000535.6(PMS2): c.2445+1G> Tsingle nucleotide variantPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
112MSH6NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
113MSH6NM_000179.2(MSH6): c.1570_1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
114MSH6NM_000179.2(MSH6): c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh38Chr 2, 47800039: 47800043
115MSH6NM_000179.2(MSH6): c.2680C> T (p.Gln894Ter)single nucleotide variantPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
116MSH6NM_000179.2(MSH6): c.2804_2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
117MSH6NM_000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
118MSH6NM_000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)single nucleotide variantPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
119MSH6NM_000179.2(MSH6): c.3717_3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
120MSH6NM_000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
121MSH6NM_000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
122MLH1NM_000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
123MLH1NM_000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
124MLH1NM_000249.3(MLH1): c.2044_2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
125MLH1NM_000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
126MLH1NM_000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
127MLH1NM_000249.3(MLH1): c.961_962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
128MSH2NM_000251.2(MSH2): c.1404_1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
129MSH2NM_000251.2(MSH2): c.2150_2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh37Chr 2, 47703650: 47703653
130MSH2NM_000251.2(MSH2): c.340G> T (p.Glu114Ter)single nucleotide variantPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
131MSH2NM_000251.2(MSH2): c.790C> T (p.Gln264Ter)single nucleotide variantPathogenicrs878853824GRCh37Chr 2, 47639697: 47639697
132PMS2NM_000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
133PMS2NM_000535.6(PMS2): c.1591G> T (p.Glu531Ter)single nucleotide variantPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
134PMS2NM_000535.6(PMS2): c.2276-?_*160+?deldeletionPathogenic
135PMS2NM_000535.6(PMS2): c.947_948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh38Chr 7, 5992013: 5992014
136EPCAMNM_002354.2(EPCAM): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs878854485GRCh37Chr 2, 47600658: 47600658
137EPCAMNM_002354.2(EPCAM): c.429G> A (p.Trp143Ter)single nucleotide variantPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
138EPCAMNM_002354.2(EPCAM): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs878854491GRCh37Chr 2, 47604184: 47604184
139MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
140MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
141MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)single nucleotide variantPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
142MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)single nucleotide variantPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
143MLH1NM_000249.3(MLH1): c.454-1G> Asingle nucleotide variantPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
144MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
145MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
146MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)single nucleotide variantPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
147MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
148MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
149MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
150MSH6NM_000179.2(MSH6): c.3173-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
151MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)single nucleotide variantPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
152NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
153MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
154MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenic
155MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
156MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
157MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
158MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
159MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
160MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
161MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)single nucleotide variantPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
162MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
163MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)single nucleotide variantPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
164MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)single nucleotide variantPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
165MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
166MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
167MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)single nucleotide variantPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
168MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
169MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)single nucleotide variantPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
170MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
171MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
172MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
173MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
174MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
175MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
176MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
177MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
178MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
179MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
180MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
181MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
182MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)single nucleotide variantPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
183MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
184MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
185MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
186MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
187MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
188MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)single nucleotide variantPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
189MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
190MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)single nucleotide variantPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
191MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)single nucleotide variantPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
192MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
193MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)single nucleotide variantPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
194MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)single nucleotide variantPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
195MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)single nucleotide variantPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
196MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
197MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
198MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)single nucleotide variantPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
199MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
200MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
201MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
202MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
203MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)single nucleotide variantPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
204MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
205MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
206MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)single nucleotide variantPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
207MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
208MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
209MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)single nucleotide variantPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
210MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh38Chr 2, 47798634: 47798634
211MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
212MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)single nucleotide variantPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
213MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
214MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
215MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
216MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
217MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)single nucleotide variantPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
218MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)single nucleotide variantPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
219MSH6NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
220MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)single nucleotide variantPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
221MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)single nucleotide variantPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
222MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
223MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
224MSH6NM_000179.2(MSH6): c.3172+1G> Tsingle nucleotide variantLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
225MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
226MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
227MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
228MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
229MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
230MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
231MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
232MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
233MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
234MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
235MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
236MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
237MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
238MSH6NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
239MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
240MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
241MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
242MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
243MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)single nucleotide variantPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
244MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)single nucleotide variantPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
245MSH6NM_000179.2(MSH6): c.3379_3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
246MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
247MSH6NM_000179.2(MSH6)insertionPathogenic
248MSH6NM_000179.2(MSH6): c.3439-1G> Tsingle nucleotide variantLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
249MSH6NM_000179.2(MSH6): c.3439-2A> Gsingle nucleotide variantLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
250MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)single nucleotide variantPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
251MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
252MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
253MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
254MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
255MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
256MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
257NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
258MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
259MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
260MSH6NM_000179.2(MSH6): c.3647-1G> Asingle nucleotide variantPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
261MSH6NM_000179.2(MSH6): c.3647-2A> Csingle nucleotide variantPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
262MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
263MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
264MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
265MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
266MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)single nucleotide variantPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
267MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)single nucleotide variantPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
268MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
269MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
270MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
271MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
272MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)single nucleotide variantPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
273MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
274MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
275MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
276MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
277MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
278MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
279MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
280MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
281MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
282MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
283MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
284MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
285MSH6NM_025133.4(FBXO11): c.*1481_*1484dupTGACduplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
286MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
287MSH6NM_000179.2(MSH6): c.4001+2T> Csingle nucleotide variantPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
288MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)single nucleotide variantPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
289MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
290MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
291MSH6NM_000179.2(MSH6): c.457+2T> Asingle nucleotide variantPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
292MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenic
293MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
294MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
295MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
296MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
297MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
298MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)single nucleotide variantPathogenicrs587779315GRCh38Chr 2, 47798635: 47798635
299MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
300MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)single nucleotide variantPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
301MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
302MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
303MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
304MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
305MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)single nucleotide variantPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
306MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)single nucleotide variantPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
307MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
308MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)single nucleotide variantPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
309MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
310MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)single nucleotide variantPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
311MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
312MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
313MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
314MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
315MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
316MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
317MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37017599
318NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
319NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
320MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenic
321MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
322MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
323MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
324MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
325MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
326MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
327MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
328MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
329MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
330MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
331MLH1NM_000249.3(MLH1): c.1039-1G> Asingle nucleotide variantPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
332MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
333MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
334MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
335MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenic
336MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenic
337MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
338MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
339MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
340MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
341MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
342MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
343MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
344MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)single nucleotide variantPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
345MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh38Chr 3, 37025699: 37025699
346MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
347MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)single nucleotide variantPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
348MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
349MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)single nucleotide variantPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
350MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
351MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)single nucleotide variantPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
352MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
353MLH1NM_000249.3(MLH1): c.116+5G> Csingle nucleotide variantPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
354MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
355MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)single nucleotide variantLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
356MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
357MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
358MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenic
359MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenic
360MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenic
361MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)single nucleotide variantPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
362MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
363MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
364MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
365MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
366MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
367MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
368MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
369MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)single nucleotide variantPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
370MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)single nucleotide variantPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
371MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
372MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
373MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
374MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
375MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
376MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
377MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
378MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
379MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
380MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
381MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
382MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
383MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
384MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
385MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
386MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
387MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
388MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
389MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
390MLH1NM_000249.3(MLH1): c.1409+1G> Asingle nucleotide variantLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
391MLH1NM_000249.3(MLH1): c.1409+1G> Csingle nucleotide variantPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
392MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
393MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenic
394MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenic
395MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
396MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
397MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
398MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
399MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
400MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
401MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
402MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)single nucleotide variantPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
403MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
404MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)single nucleotide variantPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
405MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)single nucleotide variantPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
406MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
407MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
408MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)single nucleotide variantPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
409MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
410MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
411MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
412MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
413MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
414MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
415MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
416MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)single nucleotide variantPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
417MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
418MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
419MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)single nucleotide variantPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
420MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
421MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
422MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
423MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
424MLH1NM_000249.3(MLH1): c.1558+1G> Tsingle nucleotide variantPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
425MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
426MLH1NM_000249.3(MLH1): c.1559-1G> Tsingle nucleotide variantPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
427MLH1NM_000249.3(MLH1): c.1559-2A> Gsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
428MLH1NM_000249.3(MLH1): c.1559-2A> Tsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
429MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
430MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenic
431MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenic
432MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
433MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
434MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
435MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
436MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
437MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)single nucleotide variantPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
438MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
439MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
440MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
441MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)single nucleotide variantPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
442MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)single nucleotide variantPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
443MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)single nucleotide variantPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
444MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
445MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
446MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
447MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
448MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
449MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
450MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)single nucleotide variantPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
451MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)single nucleotide variantPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
452MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
453MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
454MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)single nucleotide variantPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
455MLH1NM_000249.3(MLH1): c.1668-1G> Asingle nucleotide variantLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
456MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenic
457MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenic
458MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
459MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
460MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
461MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)single nucleotide variantPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
462MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)single nucleotide variantPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
463MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
464MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
465MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
466MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
467MLH1NM_000249.3(MLH1): c.1731+1G> Asingle nucleotide variantPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
468MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
469MLH1NM_000249.3(MLH1): c.1731+5G> Asingle nucleotide variantPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
470MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
471MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)single nucleotide variantPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
472MLH1NM_000249.3(MLH1): c.1732-1G> Asingle nucleotide variantPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
473MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
474MLH1NM_000249.3(MLH1): c.1732-2A> Tsingle nucleotide variantPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
475MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh38Chr 3, 37047519: 37050846
476MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenic
477MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenic
478MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
479MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
480MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
481MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
482MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
483MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
484MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
485MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
486MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
487MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
488MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
489MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
490MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)single nucleotide variantPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
491MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
492MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)single nucleotide variantPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
493MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
494MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
495MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
496MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
497MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
498MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)single nucleotide variantPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
499MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
500MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
501MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
502MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)single nucleotide variantPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
503MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
504MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
505MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
506MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
507MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
508MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)single nucleotide variantPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
509MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenic
510MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)single nucleotide variantPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
511MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
512MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
513MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh38Chr 3, 37048524: 37048524
514MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
515MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
516MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
517MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
518MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
519MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
520MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
521MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
522MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
523MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
524MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
525MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)single nucleotide variantPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
526MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
527MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)single nucleotide variantPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
528MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
529MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
530MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
531MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
532MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
533MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
534MLH1NM_000249.3(MLH1): c.1989+1G> Asingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
535MLH1NM_000249.3(MLH1): c.1989+1G> Tsingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
536MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)single nucleotide variantPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
537MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
538MLH1NM_000249.3(MLH1): c.1990-1G> Asingle nucleotide variantPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
539MLH1NM_000249.3(MLH1): c.1990-2A> Gsingle nucleotide variantPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
540MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
541MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
542MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
543MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
544MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
545MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
546MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
547MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)single nucleotide variantPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
548MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
549MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)single nucleotide variantPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
550MLH1NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg)single nucleotide variantLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
551MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)single nucleotide variantPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
552MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)single nucleotide variantPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
553MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
554MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
555MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
556MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
557MLH1NM_000249.3(MLH1): c.207+1G> Asingle nucleotide variantLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
558MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
559MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenic
560MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
561MLH1NM_000249.3(MLH1): c.208-1G> Asingle nucleotide variantPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
562MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
563MLH1NM_000249.3(MLH1): c.208-2A> Gsingle nucleotide variantPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
564MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenic
565MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenic
566MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenic
567MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenic
568MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)single nucleotide variantPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
569MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
570MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)single nucleotide variantPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
571MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
572MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)single nucleotide variantPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
573MLH1NM_000249.3(MLH1): c.2103+1G> Asingle nucleotide variantPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
574MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)single nucleotide variantPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
575MLH1NM_000249.3(MLH1): c.2104-2A> Tsingle nucleotide variantPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
576MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
577MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
578MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
579MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
580MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
581MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
582MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
583MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
584MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
585MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
586MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
587MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
588MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
589MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
590MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
591MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)single nucleotide variantPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
592MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
593MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
594MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)single nucleotide variantPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
595MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
596MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
597MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
598MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
599MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
600MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
601MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)single nucleotide variantPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
602MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
603MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
604MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)single nucleotide variantPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
605MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
606MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
607MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
608MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
609MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)single nucleotide variantPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
610MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
611MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)single nucleotide variantPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
612MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)single nucleotide variantPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
613MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
614MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)single nucleotide variantPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
615MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
616MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
617MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
618MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)single nucleotide variantPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
619MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
620MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
621MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
622MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
623MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh38Chr 3, 37004401: 37050846
624MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenic
625MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
626MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)single nucleotide variantPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
627MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
628MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
629MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
630MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
631MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
632MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
633MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)single nucleotide variantPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
634MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
635MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
636MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
637MLH1NM_000249.3(MLH1): c.380+2T> Asingle nucleotide variantPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
638MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
639MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenic
640MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
641MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
642MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
643MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
644MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
645MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
646MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
647MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)single nucleotide variantPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
648MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)single nucleotide variantPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
649MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
650MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
651MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
652MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
653MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
654MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)single nucleotide variantPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
655MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
656MLH1NM_000249.3(MLH1): c.453+2T> Csingle nucleotide variantPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
657MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
658MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
659MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
660MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
661MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenic
662MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)single nucleotide variantPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
663MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
664MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
665MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)single nucleotide variantPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
666MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
667MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
668MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
669MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
670MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
671MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
672MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
673MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
674MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)single nucleotide variantPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
675MLH1NM_000249.3(MLH1): c.545+3A> Gsingle nucleotide variantPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
676MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)single nucleotide variantPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
677MLH1NM_000249.3(MLH1): c.546-2A> Csingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
678MLH1NM_000249.3(MLH1): c.546-2A> Gsingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
679MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
680MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenic
681MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenic
682MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenic
683MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)single nucleotide variantPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
684MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)single nucleotide variantPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
685MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
686MLH1NM_000249.3(MLH1): c.588+1G> Tsingle nucleotide variantPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
687MLH1NM_000249.3(MLH1): c.588+5G> Asingle nucleotide variantPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
688MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
689MLH1NM_000249.3(MLH1): c.589-2A> Gsingle nucleotide variantPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
690MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
691MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)single nucleotide variantPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
692MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
693MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)single nucleotide variantPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
694MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
695MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
696MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
697MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
698MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
699MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
700MLH1NM_000249.3(MLH1): c.677+1G> Tsingle nucleotide variantPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
701MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
702MLH1NM_000249.3(MLH1): c.677+3A> Gsingle nucleotide variantPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
703MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)single nucleotide variantPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
704MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)single nucleotide variantLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
705MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
706MLH1NM_000249.3(MLH1): c.678-1G> Csingle nucleotide variantPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
707MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
708MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
709MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenic
710MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenic
711MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)single nucleotide variantPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
712MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
713MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
714MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
715MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
716MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
717MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)single nucleotide variantPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
718MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
719MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)single nucleotide variantPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
720MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
721MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
722MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
723MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
724MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)single nucleotide variantPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
725MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
726MLH1NM_000249.3(MLH1): c.790+1G> Asingle nucleotide variantPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
727MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
728MLH1NM_000249.3(MLH1): c.790+2T> Csingle nucleotide variantPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
729MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
730MLH1NM_000249.3(MLH1): c.791-1G> Csingle nucleotide variantPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
731MLH1NM_000249.3(MLH1): c.791-2A> Gsingle nucleotide variantLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
732MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
733MLH1NM_000249.3(MLH1): c.791-5T> Gsingle nucleotide variantPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
734MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenic
735MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenic
736MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
737MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)single nucleotide variantLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
738MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
739MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
740MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
741MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)single nucleotide variantPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
742MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)single nucleotide variantPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
743MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)single nucleotide variantPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
744MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
745MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)single nucleotide variantPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
746MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
747MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
748MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
749MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
750MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
751MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
752MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)single nucleotide variantPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
753MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)single nucleotide variantPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
754MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
755MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
756MLH1NM_000249.3(MLH1): c.884+4A> Gsingle nucleotide variantPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
757MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
758MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
759MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
760MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
761MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
762MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
763MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenic
764MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenic
765MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)single nucleotide variantPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
766MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
767MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
768MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)single nucleotide variantPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
769MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)single nucleotide variantPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
770MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
771MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
772MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
773MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
774MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
775MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
776MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
777MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)single nucleotide variantPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
778MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
779MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
780MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenic
781MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
782MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
783MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
784MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
785MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
786MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
787MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
788MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
789MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
790MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
791MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
792MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenic
793MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
794MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenic
795MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenic
796MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
797MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenic
798MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
799MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
800MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)single nucleotide variantPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
801MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
802MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
803MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)single nucleotide variantPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
804MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
805MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
806MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
807MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
808MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
809MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
810MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
811MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)single nucleotide variantPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
812MSH2NM_000251.2(MSH2): c.1076+1G> Asingle nucleotide variantPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
813MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
814MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
815MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
816MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenic
817MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenic
818MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenic
819MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenic
820MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenic
821MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)single nucleotide variantPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
822MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
823MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
824MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
825MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
826MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
827MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
828MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)single nucleotide variantPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
829MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
830MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
831MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
832MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
833MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)single nucleotide variantPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
834MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
835MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)single nucleotide variantPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
836MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
837MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
838MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
839MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
840MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
841MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)single nucleotide variantPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
842MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
843MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)single nucleotide variantPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
844MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
845MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
846MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
847MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
848MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
849MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
850MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
851MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)single nucleotide variantPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
852MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)single nucleotide variantPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
853MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
854MSH2NM_000251.2(MSH2): c.1276+1G> Asingle nucleotide variantPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
855MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
856MSH2NM_000251.2(MSH2): c.1277-2A> Gsingle nucleotide variantPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
857MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
858MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
859MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
860MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenic
861MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenic
862MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenic
863MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenic
864MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)single nucleotide variantPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
865MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
866MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)single nucleotide variantPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
867MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)single nucleotide variantPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
868MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)single nucleotide variantPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
869MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
870MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
871MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)single nucleotide variantPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
872MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
873MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
874MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)single nucleotide variantPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
875MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
876MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
877MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)single nucleotide variantPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
878MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)single nucleotide variantPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
879MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
880MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)single nucleotide variantPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
881MSH2NM_000251.2(MSH2): c.1386+1G> Asingle nucleotide variantLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
882MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
883MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
884MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenic
885MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenic
886MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenic
887MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenic
888MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
889MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
890MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
891MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)single nucleotide variantPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
892MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)single nucleotide variantPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
893MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
894MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)single nucleotide variantPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
895MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
896MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
897MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
898MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)single nucleotide variantPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
899MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
900MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
901MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
902MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
903MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
904MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
905MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
906MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)single nucleotide variantPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
907MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
908MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
909MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
910MSH2NM_000251.2(MSH2): c.1511-2A> Gsingle nucleotide variantPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
911MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenic
912MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
913MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
914MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)single nucleotide variantPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
915MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
916MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)single nucleotide variantPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
917MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
918MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
919MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
920MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
921MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
922MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
923MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
924MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
925MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
926MSH2NM_000251.2(MSH2): c.1661+1G> Asingle nucleotide variantLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
927MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)single nucleotide variantPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
928MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
929MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
930MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
931MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenic
932MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenic
933MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
934MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
935MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
936MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)single nucleotide variantPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
937MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
938MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
939MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
940MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
941MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
942MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
943MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)single nucleotide variantPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
944MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
945MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
946MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
947MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
948MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
949MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)single nucleotide variantPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
950MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
951MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
952MSH2NM_000251.2(MSH2): c.1759+2T> Asingle nucleotide variantPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
953MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
954MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)single nucleotide variantPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
955MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
956MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
957MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenic
958MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenic
959MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
960MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)single nucleotide variantPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
961MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
962MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)single nucleotide variantPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
963MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
964MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
965MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
966MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
967MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
968MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)single nucleotide variantPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
969MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
970MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)single nucleotide variantPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
971MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
972MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)single nucleotide variantPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
973MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
974MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
975MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
976MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
977MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
978MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)single nucleotide variantPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
979MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
980MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
981MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
982MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
983MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
984MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)single nucleotide variantPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
985MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
986MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
987MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
988MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
989MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
990MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
991MSH2NM_000251.2(MSH2): c.2005+1G> Asingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
992MSH2NM_000251.2(MSH2): c.2005+1G> Tsingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
993MSH2NM_000251.2(MSH2): c.2005+2T> Csingle nucleotide variantPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
994MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenic
995MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)single nucleotide variantPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
996MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
997MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
998MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
999MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1000MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1001MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)single nucleotide variantPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1002MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1003MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1004MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)single nucleotide variantPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1005MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1006MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1007MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)single nucleotide variantPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1008MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)single nucleotide variantPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1009MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)single nucleotide variantPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1010MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)single nucleotide variantPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1011MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)single nucleotide variantPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1012MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1013MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1014MSH2NM_000251.2(MSH2): c.212-1G> Asingle nucleotide variantPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1015MSH2NM_000251.2(MSH2): c.212-478T> Gsingle nucleotide variantPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1016MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenic
1017MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenic
1018MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenic
1019MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenic
1020MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenic
1021MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenic
1022MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenic
1023MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1024MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1025MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1026MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)single nucleotide variantPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1027MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1028MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1029MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)single nucleotide variantPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1030MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1031MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1032MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1033MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenic
1034MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1035MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1036MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1037MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)single nucleotide variantPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1038MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1039MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1040MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1041MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)single nucleotide variantPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1042MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1043MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)single nucleotide variantPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1044MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)single nucleotide variantPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1045MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1046MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)single nucleotide variantPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1047MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)single nucleotide variantPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1048MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1049MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1050MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1051MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1052MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)single nucleotide variantPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1053MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1054MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1055MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1056MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1057MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1058MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1059MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1060MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1061MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)single nucleotide variantPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1062MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1063MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)single nucleotide variantPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1064MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1065MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)single nucleotide variantPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1066MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)single nucleotide variantPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1067MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1068MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenic
1069MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1070MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1071MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1072MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1073MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1074MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1075MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1076MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1077MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1078MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)single nucleotide variantPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1079MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1080MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1081MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1082MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)single nucleotide variantPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1083MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1084MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)single nucleotide variantPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1085MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1086MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1087MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)single nucleotide variantPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1088MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1089MSH2NM_000251.2(MSH2): c.2634+5G> Csingle nucleotide variantPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1090MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)single nucleotide variantPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1091MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh38Chr 2, 47482779: 47483221
1092MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1093MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1094MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1095MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1096MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)single nucleotide variantPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1097MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1098MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1099MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)single nucleotide variantPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1100MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1101MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)single nucleotide variantPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1102MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)single nucleotide variantPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1103MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1104MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1105MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1106MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1107MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1108MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1109MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)single nucleotide variantPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1110MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1111MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1112MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1113MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1114MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenic
1115MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenic
1116MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenic
1117MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenic
1118MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenic
1119MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenic
1120MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1121MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1122MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1123MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1124MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1125MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1126MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1127MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)single nucleotide variantPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1128MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1129MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1130MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1131MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)single nucleotide variantPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1132MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)single nucleotide variantPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1133MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1134MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1135MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1136MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1137MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1138MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1139MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)single nucleotide variantPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1140MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1141MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)single nucleotide variantPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1142MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1143MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1144MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1145MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1146MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1147MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1148MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1149MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)single nucleotide variantPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1150MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)single nucleotide variantPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1151MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1152MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1153MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1154MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1155MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1156MSH2NM_000251.2(MSH2): c.645+1G> Asingle nucleotide variantPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1157MSH2NM_000251.2(MSH2): c.645+1G> Tsingle nucleotide variantLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1158MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1159MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1160MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1161MSH2NM_000251.2(MSH2): c.646-3T> Gsingle nucleotide variantPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1162MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1163MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenic
1164MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenic
1165MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenic
1166MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenic
1167MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenic
1168MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1169MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1170MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1171MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)single nucleotide variantPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1172MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1173MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1174MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1175MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1176MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1177MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1178MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1179MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1180MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1181MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1182MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1183MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1184MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)single nucleotide variantPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1185MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1186MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1187MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1188MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1189MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1190MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1191MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1192MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1193MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1194MSH2NM_000251.2(MSH2): c.792+1G> Asingle nucleotide variantPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1195MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1196MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1197MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenic
1198MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenic
1199MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenic
1200MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenic
1201MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1202MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1203MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1204MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1205MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1206MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1207MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1208MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1209MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1210MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)single nucleotide variantPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1211MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)single nucleotide variantPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1212MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1213MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)single nucleotide variantPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1214MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1215MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1216MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1217MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1218MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1219MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)single nucleotide variantPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1220MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)single nucleotide variantPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1221MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1222MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)single nucleotide variantPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1223MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)single nucleotide variantPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1224MSH2NM_000251.2(MSH2): c.943-1G> Csingle nucleotide variantLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1225MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1226MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenic
1227MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1228MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1229MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)single nucleotide variantPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1230MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh38Chr 2, 47416323: 47416324
1231MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1232MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenic
1233MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1234PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenic
1235PMS2NM_000535.6(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1236PMS2NM_000535.6(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1237PMS2NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh37Chr 7, 6029554: 6029554
1238PMS2NM_000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1239PMS2NM_000535.6(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1240PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenic
1241PMS2NM_000535.6(PMS2): c.1145-?_2174+?deldeletionPathogenic
1242PMS2NM_000535.6(PMS2): c.1145-?_2445+?deldeletionPathogenic
1243PMS2NM_000535.6(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1244PMS2NM_000535.6(PMS2): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1245PMS2NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1246PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1247PMS2NM_000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1248PMS2NM_000535.6(PMS2): c.1738A> T (p.Lys580Ter)single nucleotide variantPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1249PMS2NM_000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1250PMS2NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1251PMS2NM_000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1252PMS2NM_000535.6(PMS2): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1253PMS2NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1254PMS2NM_000535.6(PMS2): c.1939A> T (p.Lys647Ter)single nucleotide variantPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1255PMS2NM_000535.6(PMS2): c.2174+1G> Asingle nucleotide variantPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1256PMS2NM_000535.6(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1257PMS2NM_000535.6(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1258PMS2NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1259PMS2NM_000535.6(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1260PMS2NM_000535.6(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1261PMS2NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1262PMS2NM_000535.6(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1263PMS2NM_000535.6(PMS2): c.24-?_163+?deldeletionPathogenic
1264PMS2NM_000535.6(PMS2): c.354-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1265PMS2NM_000535.6(PMS2): c.354-?_803+?deldeletionPathogenic
1266PMS2NM_000535.6(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1267PMS2NM_000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1268PMS2NM_000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1269PMS2NM_000535.6(PMS2): c.697C> T (p.Gln233Ter)single nucleotide variantPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1270PMS2NM_000535.6(PMS2): c.703C> T (p.Gln235Ter)single nucleotide variantPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1271PMS2NM_000535.6(PMS2): c.706-?_803+?deldeletionPathogenic
1272PMS2NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1273PMS2NM_000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1274PMS2NM_000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1275PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenic
1276PMS2NM_000535.6(PMS2): c.804-?_2006+?deldeletionPathogenic
1277PMS2NM_000535.6(PMS2): c.804-?_903+?deldeletionPathogenic
1278PMS2NM_000535.6(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1279PMS2NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1280PMS2NM_000535.6(PMS2): c.904-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1281PMS2NM_000535.6(PMS2): c.904-?_1144+?deldeletionPathogenic
1282PMS2NM_000535.6(PMS2): c.904-?_988+?deldeletionPathogenic
1283PMS2NM_000535.6(PMS2): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1284PMS2NM_000535.6(PMS2): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1285PMS2NM_000535.6(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1286PMS2NM_000535.6(PMS2): c.989-2A> Gsingle nucleotide variantLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1287PMS2NM_000535.6(PMS2): c.989-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1288PMS2NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1289PMS2NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1290PMS2NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1291PMS2NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1292PMS2NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1293MSH6NM_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 31)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2MLH1, MSH2, TP53
210.2MLH1, MSH2, MSH6, PMS2
310.1KRAS, PIK3CA, TP53
410.1MSH6, POLE, TP53
510.1CDKN2A, KRAS, TP53
610.1MLH1, MSH2, PMS2, TP53
7
Show member pathways
10.1BRCA1, BRCA2, XRCC2
8
Show member pathways
10.1BRCA1, BRCA2, MLH1, MLH3
9
Show member pathways
10.0KRAS, PIK3CA, TGFBR2, TP53
10
Show member pathways
10.0KRAS, PIK3CA, TGFBR2, TP53
1110.0CDKN2A, KRAS, PIK3CA, TP53
12
Show member pathways
10.0BRCA1, BRCA2, FAN1, MLH1, PMS2
13
Show member pathways
10.0BRCA1, BRCA2, POLE, XRCC2
14
Show member pathways
10.0BRCA1, MSH2, MSH6, PIK3CA, TP53
15
Show member pathways
10.0CDKN2A, KRAS, MLH1, MSH2, TP53
16
Show member pathways
10.0BRCA1, BRCA2, MSH2, MSH6, TP53
179.9BRCA1, BRCA2, KRAS, PIK3CA, TP53
189.9BRCA1, CDKN2A, KRAS, PIK3CA, TP53
19
Show member pathways
9.9BRCA1, CDKN2A, MLH1, MSH2, PMS2, TP53
20
Show member pathways
9.8BRCA2, CDKN2A, KRAS, PIK3CA, TGFBR2, TP53
219.8KRAS, MLH1, MSH2, MSH3, MSH6, TGFBR2
229.8CDKN2A, KRAS, PIK3CA, POLE, TGFBR2, TP53
239.8BRCA1, BRCA2, KRAS, MSH2, MSH6, TGFBR2
249.7BRCA1, CDKN2A, MLH1, MSH2, MSH6, MUTYH
25
Show member pathways
9.7MLH1, MLH3, MSH2, MSH3, MSH6, PMS1
26
Show member pathways
9.7BRCA1, BRCA2, MSH2, MSH3, MSH6, POLE
27
Show member pathways
9.7BRCA1, BRCA2, CDKN2A, KRAS, MSH6, PIK3CA
28
Show member pathways
9.7KRAS, MLH1, MSH2, MSH3, MSH6, PIK3CA
29
Show member pathways
9.7BRCA1, BRCA2, KRAS, MLH1, MSH2, MSH3
309.4BRCA2, CDKN2A, KRAS, MLH1, MSH2, MSH3
31
Show member pathways
9.2BRCA1, BRCA2, FAN1, MLH1, MSH2, MSH3

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:003230211.0MSH2, MSH3
3chiasmaGO:000571211.0MLH1, MLH3, PMS1
4MutLalpha complexGO:003238910.9MLH1, PMS1, PMS2
5synaptonemal complexGO:000079510.8MLH1, MLH3, PMS1
6condensed nuclear chromosomeGO:000079410.6BRCA1, MLH1, MLH3
7nucleoplasmGO:00056549.2BRCA1, BRCA2, FAN1, MLH1, MSH2, MSH3

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220411.0MLH1, MSH2
2meiotic mismatch repairGO:000071010.9MSH2, MSH3, MSH6
3somatic recombination of immunoglobulin gene segmentsGO:001644710.8MLH1, MSH2, MSH6
4postreplication repairGO:000630110.8BRCA1, MSH2
5maintenance of DNA repeat elementsGO:004357010.8MSH2, MSH3, MSH6
6determination of adult lifespanGO:000834010.8MSH2, MSH6, TP53
7negative regulation of DNA recombinationGO:004591010.8MSH2, MSH3, MSH6
8somatic hypermutation of immunoglobulin genesGO:001644610.8MLH1, MSH2, MSH6, PMS2
9chromosome breakageGO:003105210.8BRCA1, BRCA2
10positive regulation of cellular senescenceGO:200077410.7CDKN2A, KRAS
11chordate embryonic developmentGO:004300910.7BRCA1, BRCA2
12isotype switchingGO:004519010.7MLH1, MSH2, MSH6
13positive regulation of helicase activityGO:005109610.7MSH2, MSH3, MSH6
14DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.7BRCA1, BRCA2, TP53
15replicative senescenceGO:009039910.6CDKN2A, TP53
16double-strand break repair via homologous recombinationGO:000072410.5BRCA1, BRCA2, FAN1, XRCC2
17intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.5BRCA2, MSH2, TP53
18double-strand break repairGO:000630210.5BRCA1, BRCA2, MSH2
19response to X-rayGO:001016510.5BRCA2, MSH2, TP53, XRCC2
20response to gamma radiationGO:001033210.4BRCA2, TP53, XRCC2
21nucleotide-excision repairGO:000628910.4BRCA2, FAN1, TP53
22intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.4BRCA1, BRCA2, MLH1, MSH2, MSH6
23mismatch repairGO:000629810.3MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH
24strand displacementGO:000073210.3BRCA1, BRCA2, XRCC2
25DNA synthesis involved in DNA repairGO:000073110.2BRCA1, BRCA2, POLE, XRCC2
26Ras protein signal transductionGO:000726510.1CDKN2A, KRAS, TP53
27reciprocal meiotic recombinationGO:000713110.1MLH1, MLH3, MSH2, MSH3, MSH6, XRCC2
28DNA repairGO:000628110.0FAN1, MLH1, MSH2, MSH3, MSH6, MUTYH
29cellular response to DNA damage stimulusGO:000697410.0BRCA1, BRCA2, MLH1, MLH3, MSH2, TP53
30negative regulation of neuron apoptotic processGO:004352410.0KRAS, MSH2, PIK3CA, XRCC2

Molecular functions related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:003214311.1MSH2, MSH6
2dinucleotide repeat insertion bindingGO:003218111.1MSH2, MSH3
3dinucleotide insertion or deletion bindingGO:003213911.1MSH2, MSH3
4single guanine insertion bindingGO:003214211.0MSH2, MSH3, MSH6
5oxidized purine DNA bindingGO:003235711.0MSH2, MSH3, MSH6
6centromeric DNA bindingGO:001923711.0MLH3, MSH2
7guanine/thymine mispair bindingGO:003213711.0MLH1, MSH2, MSH3, MSH6
8MutLalpha complex bindingGO:003240510.9MSH2, MSH6, MUTYH
9MutSalpha complex bindingGO:003240710.9MLH1, MUTYH, PMS2
10mismatched DNA bindingGO:003098310.8MLH3, MSH2, MSH3, MSH6, PMS1
11four-way junction DNA bindingGO:000040010.7MSH2, MSH6, XRCC2
12double-stranded DNA bindingGO:000369010.6MSH2, MSH6, TP53, XRCC2
13damaged DNA bindingGO:000368410.6BRCA1, MSH2, MSH3, MSH6, TP53
14ATPase activityGO:001688710.4MLH1, MLH3, MSH2, MSH6, PMS1, PMS2
15single-stranded DNA bindingGO:000369710.2BRCA2, MLH1, MLH3, MSH2, MSH3, PMS1
16chromatin bindingGO:000368210.1BRCA1, MLH1, MLH3, MSH6, POLE, TP53
17DNA bindingGO:00036779.7BRCA1, MSH2, MSH6, MUTYH, PMS1, PMS2
18ATP bindingGO:00055249.6MLH1, MLH3, MSH2, MSH3, MSH6, PIK3CA
19protein bindingGO:00055158.3BRCA1, BRCA2, CDKN2A, EPCAM, FAN1, KRAS

Sources for Lynch Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
18Gen