MCID: LYN001
MIFTS: 64

Lynch Syndrome malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Aliases & Classifications for Lynch Syndrome

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Aliases & Descriptions for Lynch Syndrome:

Name: Lynch Syndrome 10 68 21 45 22 23 47 12 24
Hereditary Nonpolyposis Colorectal Cancer 10 68 45 23 65
Hnpcc 68 21 45 22 23
Familial Nonpolyposis Colon Cancer 68 45 23
Hereditary Nonpolyposis Colorectal Neoplasms 23 65
Hereditary Non-Polyposis Colon Cancer 21 22
Colon Cancer, Familial Nonpolyposis 68 45
Cancer Family Syndrome 68 23
Lynch Syndrome Ii 47 24
Lynch Syndrome I 47 24
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 65
Colorectal Neoplasms, Hereditary Nonpolyposis 36
 
Hereditary Defective Mismatch Repair Syndrome 10
Hereditary Non-Polyposis Colon Cancer Type 2 65
Hereditary Non-Polyposis Colon Cancer Type 1 10
Hnpcc - Hereditary Nonpolyposis Colon Cancer 10
Hereditary Nonpolyposis Colorectal Neoplasm 10
Colorectal Cancer, Hereditary Nonpolyposis 45
Familial Nonpolyposis Colorectal Cancer 65
Hereditary Nonpolyposis Colon Cancer 47
Lynch Syndrome 2 45
Lynch Syndrome 1 45
Coca 1 10
Coca1 45


Classifications:



External Ids:

Disease Ontology10 DOID:3883
MeSH36 D003123
SNOMED-CT59 315058005
NCIt42 C8494

Summaries for Lynch Syndrome

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Genetics Home Reference:23 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 colonic disease and nutritional deficiency disease, and has symptoms including weight loss, anemia and constipation. An important gene associated with Lynch Syndrome is MLH1 (MutL Homolog 1), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include colon, testes and small intestine, and related mouse phenotypes are pigmentation and embryogenesis.

Disease Ontology:10 An autosomal dominant disease that is characterized by and has material basis in mutation of mismatch repair genes that increases the risk of many types of cancers.

NIH Rare Diseases:45 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

GeneReviews summary for hnpcc

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 314)
idRelated DiseaseScoreTop Affiliating Genes
1colonic disease31.3APC, BRAF, MLH1, MUTYH
2nutritional deficiency disease31.3BRCA1, BRCA2
3gastrointestinal system cancer31.2APC, KRAS, MLH1, MUTYH, TP53
4intestinal disease31.1APC, KRAS, MLH1, MSH2, MUTYH, TP53
5gastric cancer, somatic30.9APC, KRAS, MUTYH
6mismatch repair cancer syndrome30.9APC, MLH1, MSH2, MSH6, PMS1, PMS2
7muir-torre syndrome30.8MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
8breast cancer30.4APC, BRCA1, BRCA2, EPCAM, KRAS, MLH1
9gastrointestinal system disease30.3APC, BRAF, CDKN2A, EPCAM, KRAS, MLH1
10female reproductive system disease30.3BRCA1, BRCA2, CDKN2A, KRAS, MLH1, MSH2
11colorectal cancer30.2APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
12cell type cancer30.2APC, CDKN2A, KRAS, MLH1, MUTYH, TP53
13endometrial cancer10.8
14hereditary colorectal cancer10.7
15familial colorectal cancer10.6
16adenoma10.6
17colonic benign neoplasm10.6
18ovarian cancer10.6
19intestinal benign neoplasm10.6
20large intestine cancer10.6
21adult syndrome10.6
22colorectal cancer 210.5
23colorectal adenoma10.5
24adenocarcinoma10.5
25familial adenomatous polyposis10.5
26colorectal cancer 110.4
27colorectal cancer, hereditary nonpolyposis, type 110.4
28prostatitis10.4
29prostate cancer10.4
30congenital pulmonary veins atresia or stenosis10.4BRCA1, BRCA2
31pancreatic serous cystadenoma10.4MLH1, MSH2, MSH6
32chronic wasting disease10.4CDKN2A, TP53
33small non-cleaved cell lymphoma10.4MLH1, MSH2, MSH6
34laryngeal neuroendocrine tumor10.4CDKN2A, TP53
35skin glomangioma10.4MLH1, MSH2, MSH6
36bronchiolitis obliterans10.4BRCA1, BRCA2
37gonorrhea10.4MLH1, MSH2
38extrahepatic bile duct small cell adenocarcinoma10.4BRCA1, BRCA2
39syphilitic encephalitis10.4MLH1, MSH3, MSH6
40atypical mycobacteriosis, familial10.4BRAF, CDKN2A
41animal phobia10.4BRCA1, BRCA2
42breast sarcoma10.3CDKN2A, TP53
43doyne honeycomb degeneration of retina10.3MLH1, MSH2, MSH6, PMS2
44sarcomatosis of the meninges10.3MLH1, MSH2, MSH6, PMS2
45aspiration pneumonia10.3MSH2, PMS1
46breast cancer, childhood10.3APC, BRCA1, BRCA2
47nipah virus disease10.3MLH1, MSH2, MSH6, PMS2
48keratoconjunctivitis10.3MLH1, MSH2, TP53
49brca2 hereditary breast and ovarian cancer syndrome10.3APC, BRCA1, BRCA2
50cecal disease10.3MSH2, MUTYH, PMS1

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 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 3, Phase 11820216974-75-3
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
Levonorgestrelapproved, investigationalPhase 3, Phase 2261797-63-7, 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
Aftera
Afterpill
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
Econtra Ez
FH 122-A
Fallback Solo
Follistrel
HMS1570K08
HMS2051M08
HMS2090O06
HSDB 3595
HSDB 6483
Jadelle
Jaydess
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 Emergency Contraceptive
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
My Way
N2260_FLUKA
N2260_SIGMA
NCGC00159349-02
NCGC00159349-03
NORPLANT
NSC744007
Neogest
Neogynon 21
Next Choice
Next Choice One Dose
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]
Norlevo
Norplant (TN)
Norplant 2
Norplant II
Norplant System in Plastic Container
Norplant-2
Opcicon One-step
Ovoplex 30-150
Ovral-Lo
Ovranette
Ovrette
Ovrette (TN)
Plan B
Plan B One-step
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
Skyla
Stediril 30
Take Action
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
SulindacapprovedPhase 33538194-50-25352, 1548887
Synonyms:
(E)-(1)-5-Fluoro-2-methyl-1-((4-(methylsulphinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-((P-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-((p-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-[[4-(methyl-sulfinyl)phenyl]methylene]-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-[p-(methylsulfinyl)benzylidene]indene-3-acetic acid
2-[(3E)-6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
2-[(3Z)-6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
2-[6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
32004-68-5
38194-50-2
5-Fluoro-2-methyl-1-((4-(methylsulphinyl)phenyl)methylene)-1H-indene-3-acetic acid
53933-60-1
6301-55-9
9000-14-0
AB00513800
AC-4550
AC1L1K5T
AC1LU7GU
AC1LU7GY
AC1Q6YHK
AKOS004119989
AR-1A9609
Aclin
Aflodac
Alphapharm Brand of Sulindac
Apo Sulin
Apo-Sulin
Apotex Brand of Sulindac
Arthrobid
Arthrocine
BB_SC-1128
BPBio1_000315
BRD-A03427350-001-01-3
BRD-A13946108-001-04-9
BRN 2951842
BSPBio_000285
BSPBio_002890
C01531
C20H17FO3S
CAS-38194-50-2
CCRIS 3305
CHEBI:9352
CHEMBL1376
CID1548885
CID1548887
CID5352
CPD000326718
Cahill May Roberts Brand of Sulindac
Chemia Brand of Sulindac
Chibret
Clinoril
Clinoril (TN)
Copal
Copal resin
Copal rosin varnish
Copals
D00120
D013467
DB00605
DivK1c_000601
EINECS 232-527-9
EINECS 250-893-8
EINECS 253-819-2
EINECS 258-873-0
EU-0101070
Gum copal
HMS1568O07
HMS1921C11
HMS2089J04
HMS2092K15
HMS501O03
I06-0523
IDI1_000601
KBio1_000601
KBio2_001506
KBio2_002320
KBio2_004074
KBio2_004888
KBio2_006642
KBio2_007456
KBio3_002110
KBio3_002800
KBioGR_001571
 
KBioGR_002320
KBioSS_001506
KBioSS_002322
KST-1B6530
Kenalin
Kendrick Brand of Sulindac
Klinoril
LS-81610
Lopac-S-8139
Lopac0_001070
MK 231
MK-231
MK231
MLS001056554
MLS001304027
MLS002207124
Merck Brand of Sulindac
Merck Sharp & Dohme Brand of Sulindac
Mobilin
MolPort-002-507-760
MolPort-003-666-287
NCGC00015970-01
NCGC00015970-02
NCGC00015970-03
NCGC00015970-08
NCGC00025268-01
NCGC00025268-02
NCGC00025268-03
NCGC00094349-01
NCGC00094349-02
NINDS_000601
Novo Sundac
Novo-Sundac
Novopharm Brand of Sulindac
Nu Pharm Brand of Sulindac
Nu Sulindac
Nu-Pharm Brand of Sulindac
Nu-Sulindac
Prestwick0_000073
Prestwick1_000073
Prestwick2_000073
Prestwick3_000073
Prestwick_456
Resin copal
S 8139
S2007_Selleck
S4429_SIAL
S8139_SIAL
S8139_SIGMA
SAM002554933
SBB058181
SMR000043852
SMR000326718
SPBio_001451
SPBio_002206
SPECTRUM1500556
STK802068
Spectrum2_001326
Spectrum3_001365
Spectrum4_000876
Spectrum5_001024
Spectrum_001026
Sulindac
Sulindac (JAN/USP/INN)
Sulindac [USAN:BAN:INN:JAN]
Sulindac sulfoxide
Sulindaco
Sulindaco [INN-Spanish]
Sulindacum
Sulindacum [INN-Latin]
Sulindal
Tocris-1707
UNII-184SNS8VUH
UNII-M5221THD3M
UNM-0000306136
Z-5-Fluoro-2-methyl-1-[p-(methlsulfinyl)benzylidene]indene-3-acetic acid
[(1E)-5-fluoro-2-methyl-1-{[4-(methylsulfinyl)phenyl]methylidene}-1H-inden-3-yl]acetic acid
cMAP_000021
cis-5-Fluoro-2-methyl-1-((4-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-((P-methylsulfinyl)benzylidene)indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-((p-methylsulfinyl)benzylidene)indene-3-acetic acid
sulindac
{(1E)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid
{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid
{5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1h-inden-3-yl}acetic acid
4
LoperamideapprovedPhase 310453179-11-63955
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
Loperamide (INN)
Loperamide Hydrochloride
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
5
leucovorinapprovedPhase 39221492-18-854575
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
(S)-Leucovorin
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinic acid
Folinic acid calcium salt
Folinic acid calcium salt USP27
Folinic acid-SF
Fusilev
 
L-Folinic acid
L-leucovorin
Leucal
Leucovorin
Leucovorin Calcium
Leucovorin calcium
Leucovorin folinic acid
Leucovorin sodium
Leukovorin
Levofolene
Levofolinic acid
Levoleucovorin
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
Wellcovorin
6
Oxaliplatinapproved, investigationalPhase 3127661825-94-35310940, 9887054, 6857599, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
 
Oxalatoplatin
Oxalatoplatinum
Oxaliplatin
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
7
FluorouracilapprovedPhase 3193751-21-83385
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
AspirinapprovedPhase 397150-78-22244
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
7 Select Adult Chewable Aspirin
7 Select Aspirin
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
Adult Chewable Low Dose Aspirin
Adult Low Dose Aspirin
Adult Low Dose Aspirin Enteric Safety Coated
Adult Low Dose Enteric Coated Aspirin
Adult Low Strength Aspirin
Aloxiprimum
Asacard
Asagran
Asaphen
Asatard
Ascoden-30
Ascriptin Maximum Strength Buffered Aspirin
Ascriptin Regular Strength Buffered Aspirin
Aspalon
Aspec
Aspergum
Aspi-cor
Aspir Low
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin 81 Mg
Aspirin 81 Mg Low Dose
Aspirin Adult Low Dose
Aspirin Adult Low Strength
Aspirin Adult Low Strength Aspirin
Aspirin Adult low strength
Aspirin Chewable Low Dose
Aspirin Delayed Release
Aspirin EC
Aspirin EXTRA STRENGTH
Aspirin Ec
Aspirin Enteric
Aspirin Enteric Coated
Aspirin Enteric Coated Low Dose
Aspirin Enteric Safety Coated
Aspirin Enteric Safety-Coated
Aspirin Low Dose
Aspirin Low Dose Chewable
Aspirin Low Dose Enteric Coated
Aspirin Low Dose Safety Coated
Aspirin Low Strength
Aspirin Nsaid
Aspirin Regular Strength
Aspirin Regular Strength regular strength
Aspirin Regular strength
Aspirin Safety Coated
Aspirin Safety Coated Adult Low Dose
Aspirin Safety coated
Aspirin Thin coated
Aspirin [BAN:JAN]
Aspirin adult low dose
Aspirin adult low strength
Aspirin enteric safety coated
Aspirin low dose
Aspirin low dose chewable
Aspirin low dose enteric coated
Aspirin regular strength
Aspirina 03
Aspirine
Aspiring
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Advanced Aspirin Extra Strength
Bayer Advanced Aspirin Regular Strength
Bayer Aspirin 8 Hour
Bayer Aspirin Regimen Chewable Low Dose Aspirin Orange
Bayer Aspirin Regimen Regular Strength
Bayer Buffered
Bayer Chewable - Aspirin Regimen Low Dose Aspirin Cherry Flavored
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Fast Release
Bayer Genuine Aspirin
Bayer Low Dose
Bayer Plus
Bayer Plus Extra Strength
Bayer Womens
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Buffered Aspirin
Bufferin
Bufferin LOW DOSE BUFFERED ASPIRIN
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Care One Aspirin
Cemirit
Chewable Adult Low Dose Aspirin
Chewable Aspirin
Chewable Low Dose Aspirin
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Critical Care Aspirin To Go
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dg Health Aspirin
Direct Safety Aspirin
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ec-81aspirin Enteric Coated
Ecolen
Ecotrin
Ecotrin Regular Strength
Empirin
Empirin with Codeine
Endosprin
Endydol
Enteric Aspirin
Enteric Coated Aspirin
Enteric Coated Aspirin Regular Strength
Enteric Coated Aspirin Regular strength
Enteric Coated Aspirin regular strength
Enteric Coated Asprin 81 Mg
Enteric Coated Low Dose Aspirin
 
Enteric Safety Coated Aspirin
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Equaline Aspirin
Equaline Aspirin adult low dose
Equate Aspirin
Equate Aspirin chewable
Extren
Fasprin
Flanax Aspirin Pain Reliever
Formucare Aspirin
Genuine Aspirin
Globentyl
Globoid
Good Neighbor Pharmacy Aspirin
Good Neighbor Pharmacy Aspirin Enteric Safety Coated
Good Neighbor Pharmacy Aspirin orange flavor chewable
Good Sense Aspirin
Good Sense Aspirin Enteric Safety Coated
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Handy Solutions Genuine Aspirin Bayer
Health Mart Aspirin
Health Mart Regular Strength Enteric Coated Aspirin
Health Sense Adult Chewable Low Strength Aspirin
Health Sense Aspirin 81
Health Sense Ecpirin
Healthy Accents Aspirin
Helicon
Henry Schein Aspirin
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
Kroger Value Aspirin
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Leader Aspirin
Leader Cardinal Health Aspirin
Leader Low Dose Aspirin
Levius
Lopac-A-5376
Lopac0_000038
Low Dose Adult Aspirin
Low Dose Aspirin
Low Dose Aspirin 81 Mg Safety Coated
Low Dose Aspirin Enteric Safety Coated
Low Dose Asprin
Low Dose Chewable Aspirin
Low Dose Miniprin Enteric Safety Coated
Low Dose Pain Relief Aspirin
Low Strength Chewable Aspirin
Low-dose Aspirin
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medi First Plus Aspirin
Medi-first Aspirin
Medique Aspirin
Medisyl
Micristin
Micro-coated Aspirin
Miniprin
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
North Aspirin
Novasen
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
Pain Relief Aspirin
Pain Relief Aspirin Low Dose
Persistin
Pharbest Aspirin 325mg
Pharbest Regular Strength Aspirin
Pharmacin
Pirseal
Plus Pharma NSAID 325 mg
Plus Pharma Nsaid Aspirin
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rapid Comfort Aspirin
Regular Strength Aspirin
Regular Strength Aspirin Ec
Regular Strength Buffered Aspirin
Regular Strength Enteric Aspirin
Regular Strength Enteric Coated Aspirin
Regular Strength Pain Relief
Regular Strength Tri-buffered Aspirin
Rexall Aspirin
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
Rugby Aspirin
Rx Act Aspirin
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Safety Coated Aspirin
Safety Coated Enteric Aspirin
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Smart Health Aspirin regular strength
Smart Sense Aspirin
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Solves - Aspirin Cherry
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
St. Joseph Chewable Aspirin
St. Joseph Safety Coated Aspirin
Sunmark Aspirin
Sunmark Aspirin Regular Strength
Sunmark Aspirin adult low strength
Sunmark Aspirin low dose
Supac
Tasprin
Temperal
Toldex
Topcare Aspirin
Tri-buffered Aspirin
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Uncoated Aspirin
Value Pharma Aspirin Pain Reliever
Value Pharmapain Reliever Extra Strength
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
Zee Aspirin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
9
Folic Acidapproved, nutraceuticalPhase 3285159-30-36037
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
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
10AntidiarrhealsPhase 3104
11
EflornithinePhase 3, Phase 23270052-12-93009
Synonyms:
.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 (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
12LevoleucovorinPhase 3659
13Calcium, DietaryPhase 33529
14Immunoglobulin GPhase 3167
15Vitamin B ComplexPhase 32775
16ColaNutraceuticalPhase 3, Phase 2, Phase 11690
17FolateNutraceuticalPhase 32851
18Vitamin B9NutraceuticalPhase 32851
19Folinic AcidNutraceuticalPhase 32498
20
Ethinyl EstradiolapprovedPhase 263657-63-65991
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
21
Medroxyprogesterone Acetateapproved, investigationalPhase 213171-58-9
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
Depo-provera
Depo-subq Provera
MPA
Makena
Medroxyacetate progesterone
Medroxyprogesterone 17-acetate
Medroxyprogesterone Acetate
Medroxyprogesterone acetate
Methylacetoxyprogesterone
Metigestrona
Provera
22
Estradiolapproved, investigationalPhase 2105750-28-25757, 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
Depo-estradiol
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 Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
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
Femring
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
Minivelle
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)
Vivelle Dot
Vivelle-dot
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
23
Celecoxibapproved, investigationalPhase 2, Phase 1395169590-42-52662
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
24Cyclooxygenase 2 InhibitorsPhase 2, Phase 1517
25Polyestradiol phosphatePhase 21057
26
NorgestrelPhase 2276533-00-213109
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
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 [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
27Estradiol 3-benzoatePhase 21057
28Estradiol 17 beta-cypionatePhase 21083
29Estradiol valeratePhase 21057979-32-8
30
MedroxyprogesteronePhase 2131520-85-410631
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
31
NaproxenapprovedPhase 123322204-53-11302, 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
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
Naprosyn LLE
Naprosyn LLE Forte
Naprosyne
Naproxen
Naproxen Kit
Naproxen Sodium
Naproxen [USAN:BAN:INN:JAN]
Naproxen delayed release
Naproxen sodium
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
32
Secretinapproved, investigational29108153-74-8
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
33
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
34
Caffeineapproved, Nutraceutical31758-08-22519
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
Alert-Pep
Alert-pep
Allertness Aid
Anacin Maximum Strength
Anhydrous caffeine
Anhydrous caffeine (JP15)
Anhydrous caffeine (TN)
Anoquan
Awake
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 Citrate
Caffeine Pure
Caffeine [BAN:JAN]
Caffeine citrate
Caffeine solution
Caffeine, Anhydrous
Caffeine, Monohydrate
Caffeine, Synthetic
Caffeine, anhydrous
Caffeine, synthetic
Caffine
Cafipel
Caféine
Circle K Nosnooze
Coffein
Coffein [German]
Coffeine
Coffeinum
Coffeinum N
Coffeinum Purrum
Compound 65
Conrx Alert
D002110
D00528
DB00201
DHC Plus
DHCplus
Darvon Compound
Darvon Compound-65
Dasin
Dexitac
Dexitac Stay Alert Stimulant
Dhc Plus
Diurex
Diurex Ultra
Diurex WaterCaps
DivK1c_000730
Drowz Away Maximum strength
Durvitan
EINECS 200-362-1
EU-0100228
Eldiatric C
Enerjets
Equaline Stay Awake
Ercatab
Esgic
Esgic-Plus
FEMA No. 2224
Femcet
Fioricet
Fiorinal
GlaxoSmithKline Brand of Caffeine
Good Neighbor Pharmacy Stay Awake
Good Sense Stay Awake
Guaranine
HMS1920I09
HMS2091O11
HMS502E12
HSDB 36
Health Mart Stay Awake
Healthy Accents Stay Awake
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
Leader Alertness Aid
Lil Drug Store Nosnooze
Lopac-C-0750
Lopac0_000228
MEGxp0_001350
MLS001055341
MLS001056714
MLS001066409
Mateina
Mateína
Maximum Strength Caffeine
Maximum Strength Snapback Stimulant Powders
Maximum Strength Stay Awake
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
Nano Ppc
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
Pep-back Peak Performance
Pep-back Ultra
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
Smart Sense Stay Awake
Sohmed Alertness Aid
Spectrum2_001261
Spectrum3_000321
Spectrum4_001782
Spectrum5_000423
Spectrum_001301
Stay Alert Aid
Stay Awake
Stay Awake Maximum Strength
Stay Awake Maximum strength
Stim
Sunmark Stay Awake
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
Topcare Stay Awake maximum strength
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
35pancreatin839

Interventional clinical trials:

(show top 50)    (show all 63)
idNameStatusNCT IDPhase
1Use of Post Operative Loperamide in Colorectal Patients After Diverting IleostomiesRecruitingNCT02263365Phase 3
2Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP)RecruitingNCT01483144Phase 3
3Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
4Aspirin as a Cancer Preventive in Carriers of a Germline Pathological Mismatch Repair Gene Defect, Lynch SyndromeNot yet recruitingNCT02497820Phase 3
5Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel AdenocarcinomaNot yet recruitingNCT02502370Phase 3
6Intrauterine 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
7CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer SyndromeCompletedNCT00224601Phase 2
8Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon CancerCompletedNCT00033358Phase 2
9Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSIActive, not recruitingNCT01885702Phase 1, Phase 2
10Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal CancersActive, not recruitingNCT00503035Phase 2
11Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous PolyposisTerminatedNCT00033371Phase 2
12Phase 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
13Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
14Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous PolyposisCompletedNCT00685568Phase 1
15Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
16A Social Media Approach to Improve Genetic Risk Communication Phase IActive, not recruitingNCT01645904Phase 1
17Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer SurveillanceCompletedNCT00313755
18Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal CancerCompletedNCT00450424
19Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00341575
20Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch SyndromeCompletedNCT00898768Phase 0
21Molecular Screening for Lynch Syndrome in Southern DenmarkCompletedNCT01216930
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
24Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402
25Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
26Combined Colon and Endometrial Cancer Screening in Women With HNPCCCompletedNCT00510796
27Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
28Oligogenic Determinism of Colorectal CancerCompletedNCT01057953
29Prevention of Ovarian Cancer in Women Participating in MammographyCompletedNCT01851109
30What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate?CompletedNCT01692977
31Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
32Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical ApplicationsRecruitingNCT00262171
33Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal CancerRecruitingNCT00675636
34The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)RecruitingNCT01447199
35Implementation of a New Strategy to Identify HNPCC PatientsRecruitingNCT00141466
36Women Who Are At Risk Or May Have Lynch SyndromeRecruitingNCT00508573
37Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
38Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis SyndromesRecruitingNCT02371135
39Multi-Organ Screening Recommendations in Patients With Lynch SyndromeRecruitingNCT00582296
40NBI Versus Indigo Carmine During Colonoscopy in Lynch SyndromeRecruitingNCT02570516
41I-Scan For Colon Polyp Detection In HNPCCRecruitingNCT01823471
42Ileal Pouch-Anal Anastomosis RegistryRecruitingNCT01026480
43Familial Cancer Registry and DNA BankRecruitingNCT02083224
44Hypodontia and Ovarian CancerRecruitingNCT01470235
45The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
46Survivorship in Lynch Syndrome FamiliesRecruitingNCT01126840
47Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer SyndromesRecruitingNCT02198092
48Prostate Cancer Screening Among Men With High Risk Genetic PredispositionRecruitingNCT02053805
49Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
50Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal CancerRecruitingNCT00516230

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 Syndrome22 24
2 Lynch Syndrome Ii24
3 Lynch Syndrome I24

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

33
Colon, Testes, Small intestine, Skin, Brain, Liver, Prostate

Animal Models for Lynch Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Lynch Syndrome:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.9APC, BRAF, BRCA1, CDKN2A, KRAS, TP53
2MP:00053809.2APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
3MP:00036319.1APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
4MP:00053819.0APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
5MP:00053878.5APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
6MP:00053978.5APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
7MP:00107718.5APC, BRAF, BRCA1, BRCA2, CDKN2A, KRAS
8MP:00053848.3APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
9MP:00053898.1APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1
10MP:00053768.1APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
11MP:00053798.0APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
12MP:00107687.8APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
13MP:00020067.8APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50)    (show all 634)
idTitleAuthorsYear
1
Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome. (26463285)
2015
2
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study. (26393997)
2015
3
Gastroenterology: Video capsule endoscopy disclosure of unprecedented therapeutic effect of Eviendep on small bowel polyposis in Lynch syndrome. (25865861)
2015
4
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. (26552419)
2015
5
Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease? (26412249)
2015
6
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression. (25871621)
2015
7
Estimating successive cancer risks in Lynch Syndrome families using a progressive three-state model. (23946183)
2014
8
MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report. (25213678)
2014
9
POLE mutations as an alternative pathway for microsatellite instability in endometrial cancer: Implications for Lynch syndrome testing. (25224324)
2014
10
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. (24811117)
2014
11
BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines. (25076244)
2014
12
Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case. (23896635)
2013
13
Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers. (24244552)
2013
14
Colorectal cancer: Update on the clinical management of Lynch syndrome. (23609465)
2013
15
The role of epigenetics in Lynch syndrome. (23462881)
2013
16
Colorectal surveillance in Lynch syndrome families. (23525799)
2013
17
Value-based healthcare in Lynch syndrome. (23681793)
2013
18
New genetic variants of genes MMR in a Spanish family with Lynch syndrome. (23224667)
2013
19
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. (21520036)
2012
20
Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. (22595844)
2012
21
Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. (22854115)
2012
22
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. (22388758)
2012
23
Lynch syndrome diagnostics: decision-making process for germ-line testing. (22484632)
2012
24
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. (22395473)
2012
25
Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome. (22086974)
2012
26
Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. (22124091)
2012
27
Cancer: Lynch syndrome--how should colorectal cancer be managed? (21460875)
2011
28
Testing women with endometrial cancer to detect Lynch syndrome. (21537049)
2011
29
Prospective study of combined colon and endometrial cancer screening in women with lynch syndrome: a patient-centered approach. (21532810)
2011
30
On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms. (20465492)
2010
31
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. (19635727)
2010
32
Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (20706999)
2010
33
Comparison of extended colectomy and limited resection in patients with Lynch syndrome. (20010355)
2010
34
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome. (19672700)
2009
35
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. (19250818)
2009
36
Molecular screening for Lynch syndrome: from bench to bedside. (19858372)
2009
37
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. (19459153)
2009
38
Identifying Lynch syndrome. (19536819)
2009
39
The identification of Lynch syndrome in British Columbia. (19893772)
2009
40
Commentary: The shifting role of family history in Lynch syndrome diagnosis. (19508539)
2009
41
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. (19215248)
2009
42
Lynch syndrome in women less than 50 years of age with endometrial cancer. (18448750)
2008
43
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
44
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
45
Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer). (18081655)
2007
46
Need of new clinical criteria for the identification of genetic Lynch syndrome]. (18331697)
2007
47
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
48
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. (16203772)
2005
49
Review of the molecular genetics of the Lynch syndrome]. (9650415)
1998
50
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). (8600057)
1996

Variations for Lynch Syndrome

About this section

Clinvar genetic disease variations for Lynch Syndrome:

5 (show all 1,242)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH6NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter)single nucleotide variantPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
2MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
3PMS2NM_000535.5(PMS2): c.1376C> A (p.Ser459Ter)single nucleotide variantPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
4MLH1NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
5MSH6NM_000179.2(MSH6): c.2147_2150delCAGT (p.Val717Alafs)deletionPathogenicrs587782275GRCh37Chr 2, 48027269: 48027272
6MSH6NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs)deletionLikely pathogenic, Pathogenicrs587782712GRCh37Chr 2, 48028159: 48028163
7MLH1NM_000249.3(MLH1): c.117-2A> Gsingle nucleotide variantPathogenicrs267607712GRCh37Chr 3, 37038108: 37038108
8MSH2NM_000251.2(MSH2): c.1271dupA (p.His424Glnfs)duplicationPathogenicrs587783055GRCh38Chr 2, 47429936: 47429936
9MSH6NM_000179.2(MSH6): c.1705_1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
10MLH1NM_000249.3(MLH1): c.755C> A (p.Ser252Ter)single nucleotide variantPathogenicrs63750198GRCh37Chr 3, 37056000: 37056000
11MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
12MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
13MLH1MLH1, 3.5-KB DELdeletionPathogenic
14MLH1MLH1, IVS5, G-A, -1single nucleotide variantPathogenic
15MLH1NM_000249.3(MLH1): c.1667+1_1667+8delinsATTTindelPathogenicGRCh38Chr 3, 37040295: 37040302
16MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
17MLH1MLH1, 1-BP DEL, 1784TdeletionPathogenic
18MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
19MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
20MLH1MLH1, EX16DELdeletionPathogenic
21MLH1MLH1, HYPERMETHYLATIONundetermined variantPathogenic
22MLH1MLH1, -42, C-Tsingle nucleotide variantPathogenic
23MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
24MLH1NM_000249.3(MLH1): c.1846_1848delAAG (p.Lys618del)deletionPathogenicrs121912962GRCh37Chr 3, 37089124: 37089126
25MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
26MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
27MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
28MLH1MLH1, 3-BP DEL, 213AGAdeletionPathogenic
29MLH1MLH1, EX18DELdeletionPathogenic
30MLH1MLH1, EPIGENETICALLY SILENCEDundetermined variantPathogenic
31MLH1MLH1, EPIGENETICALLY SILENCED INHERITEDundetermined variantPathogenic
32MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenic
33MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
34MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
35MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
36MSH2MSH2, DEL 50 CODONSdeletionPathogenic
37MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
38MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
39MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
40MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
41MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenic, Pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
42MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
43MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
44MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
45MSH2MSH2, EX1-6 DELdeletionPathogenic
46MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
47MSH2nsv513794deletionPathogenic
48MSH2NG_007110.2: g.4247_24291del20045deletionPathogenicGRCh38Chr 2, 47402370: 47422414
49MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenic
50PMS2NM_000535.5(PMS2): c.765C> A (p.Tyr255Ter)single nucleotide variantPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
51MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
52MSH6NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs)duplicationPathogenicrs786201050GRCh37Chr 2, 48027352: 48027352
53EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenic
54MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
55MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
56PMS2NM_000535.5(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh38Chr 7, 5987580: 5987580
57MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
58MSH6NM_000179.2(MSH6): c.3978_3979insAATC (p.Leu1330Valfs)insertionPathogenicrs786204180GRCh37Chr 2, 48033767: 48033768
59MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)single nucleotide variantPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
60MSH6NM_000179.2(MSH6): c.1107_1108delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026229: 48026230
61MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
62MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh37Chr 3, 37035039: 37035154
63MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
64MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
65MSH2NM_000251.2(MSH2): c.1278_1386+1deldeletionPathogenicGRCh38Chr 2, 47445549: 47445658
66MSH2NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter)single nucleotide variantPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
67MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
68MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicGRCh37Chr 2, 48026167: 48026167
69MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicGRCh38Chr 2, 47799727: 47799727
70MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicGRCh37Chr 2, 48027211: 48027211
71MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicGRCh38Chr 2, 47803682: 47803682
72MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)single nucleotide variantPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
73MLH1NM_000249.3(MLH1): c.2177_2180delCACA (p.His727Phefs)deletionPathogenicGRCh38Chr 3, 37050559: 37050562
74MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicGRCh38Chr 3, 37014458: 37014477
75MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh38Chr 2, 47403191: 47416429
76MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicGRCh37Chr 2, 47630471: 47630484
77MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
78MSH2NM_000251.2(MSH2): c.419_420delAT (p.Met141Valfs)deletionPathogenicGRCh37Chr 2, 47637285: 47637286
79PMS2NM_000535.5(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicGRCh38Chr 7, 5987526: 5987526
80PMS2NM_000535.5(PMS2): c.1297A> T (p.Lys433Ter)single nucleotide variantPathogenicGRCh37Chr 7, 6027099: 6027099
81PMS2NM_000535.5(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicGRCh38Chr 7, 5987189: 5987189
82PMS2NM_000535.5(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicGRCh38Chr 7, 5987126: 5987127
83MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicGRCh37Chr 2, 48026732: 48026735
84MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicGRCh37Chr 2, 47641527: 47641527
85MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
86MLH1MLH1, 11.6-KB DELdeletionPathogenic
87MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
88MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)single nucleotide variantPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
89MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)single nucleotide variantPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
90MLH1NM_000249.3(MLH1): c.454-1G> Asingle nucleotide variantPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
91MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
92MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
93MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)single nucleotide variantPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
94MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
95MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
96MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionLikely pathogenic, Pathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
97MSH2NM_000251.2(MSH2): c.4G> A (p.Ala2Thr)single nucleotide variantPathogenicrs63750466GRCh37Chr 2, 47630334: 47630334
98MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)single nucleotide variantLikely pathogenic, Pathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
99NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
100MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
101MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenic
102MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
103MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
104MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
105MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionLikely pathogenic, Pathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
106MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
107MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
108MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)single nucleotide variantPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
109MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
110MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)single nucleotide variantPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
111MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)single nucleotide variantPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
112MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
113MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
114MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)single nucleotide variantPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
115MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)single nucleotide variantLikely pathogenic, Pathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
116MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)single nucleotide variantPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
117MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
118MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
119MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
120MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
121MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
122MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
123MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
124MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
125MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
126MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
127MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
128MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
129MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)single nucleotide variantPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
130MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
131MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
132MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
133MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
134MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
135MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)single nucleotide variantPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
136MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
137MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)single nucleotide variantPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
138MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)single nucleotide variantPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
139MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
140MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)single nucleotide variantPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
141MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)single nucleotide variantPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
142MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)single nucleotide variantPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
143MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
144MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
145MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)single nucleotide variantPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
146MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
147MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
148MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
149MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
150MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)single nucleotide variantPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
151MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
152MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
153MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)single nucleotide variantPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
154MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
155MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
156MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)single nucleotide variantPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
157MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
158MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)single nucleotide variantPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
159MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
160MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
161MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
162MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
163MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)single nucleotide variantPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
164MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)single nucleotide variantPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
165MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)single nucleotide variantPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
166MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)single nucleotide variantPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
167MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
168MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
169MSH6NM_000179.2(MSH6): c.3172+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
170MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
171MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
172MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
173MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
174MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
175MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
176MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
177MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
178MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
179MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
180MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
181MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
182MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
183MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
184MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
185MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
186MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
187MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)single nucleotide variantPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
188MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)single nucleotide variantPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
189MSH6NM_000179.2(MSH6): c.3379_3438+5deldeletionPathogenicGRCh37Chr 2, 48030765: 48030829
190MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenicrs587776705GRCh37Chr 2, 48030772: 48030774
191MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
192MSH6NM_000179.2(MSH6)insertionPathogenic
193MSH6NM_000179.2(MSH6): c.3439-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
194MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)single nucleotide variantPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
195MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
196MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
197MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
198MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
199MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
200MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
201NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
202MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
203MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
204MSH6NM_000179.2(MSH6): c.3647-1G> Asingle nucleotide variantPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
205MSH6NM_000179.2(MSH6): c.3647-2A> Csingle nucleotide variantPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
206MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
207MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
208MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
209MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
210MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)single nucleotide variantPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
211MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)single nucleotide variantPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
212MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
213MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionLikely pathogenic, Pathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
214MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
215MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
216MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)single nucleotide variantPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
217MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
218MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
219MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
220MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
221MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
222MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
223MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
224MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
225MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
226MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
227MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
228MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
229MSH6NM_025133.4(FBXO11): c.*1481_*1484dupTGACduplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
230MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
231MSH6NM_000179.2(MSH6): c.4001+2T> Csingle nucleotide variantPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
232MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)single nucleotide variantPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
233MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
234MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
235MSH6NM_000179.2(MSH6): c.457+2T> Asingle nucleotide variantPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
236MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenic
237MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
238MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
239MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
240MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
241MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
242MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh37Chr 2, 48025773: 48025773
243MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)single nucleotide variantPathogenicrs587779315GRCh38Chr 2, 47798635: 47798635
244MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
245MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)single nucleotide variantPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
246MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
247MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
248MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
249MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
250MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)single nucleotide variantPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
251MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)single nucleotide variantPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
252MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
253MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)single nucleotide variantPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
254MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
255MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)single nucleotide variantLikely pathogenic, Pathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
256MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
257MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
258MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
259MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
260MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
261MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
262MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
263MLH1NM_000249.3(MLH1): c.-27C> Asingle nucleotide variantPathogenicrs587779001GRCh37Chr 3, 37035012: 37035012
264NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
265NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
266MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenic
267MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
268MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
269MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
270MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
271MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
272MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
273MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
274MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
275MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
276MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
277MLH1NM_000249.3(MLH1): c.1039-1G> Asingle nucleotide variantPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
278MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
279MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
280MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
281MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenic
282MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenic
283MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
284MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
285MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
286MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
287MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
288MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
289MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
290MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)single nucleotide variantPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
291MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh38Chr 3, 37025699: 37025699
292MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
293MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)single nucleotide variantPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
294MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
295MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)single nucleotide variantPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
296MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
297MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)single nucleotide variantPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
298MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
299MLH1NM_000249.3(MLH1): c.116+5G> Csingle nucleotide variantPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
300MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
301MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
302MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
303MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
304MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenic
305MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenic
306MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenic
307MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)single nucleotide variantPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
308MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
309MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
310MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
311MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
312MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
313MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
314MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
315MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)single nucleotide variantPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
316MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)single nucleotide variantPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
317MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
318MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
319MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
320MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
321MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
322MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
323MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
324MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
325MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
326MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
327MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
328MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
329MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
330MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
331MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
332MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
333MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
334MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
335MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
336MLH1NM_000249.3(MLH1): c.1409+1G> Csingle nucleotide variantPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
337MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
338MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenic
339MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenic
340MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
341MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
342MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
343MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
344MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
345MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
346MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
347MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)single nucleotide variantPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
348MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
349MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)single nucleotide variantPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
350MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)single nucleotide variantPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
351MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
352MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
353MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)single nucleotide variantPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
354MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
355MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
356MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
357MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
358MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
359MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
360MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
361MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)single nucleotide variantPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
362MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
363MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
364MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)single nucleotide variantPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
365MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
366MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
367MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
368MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
369MLH1NM_000249.3(MLH1): c.1558+1G> Tsingle nucleotide variantPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
370MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
371MLH1NM_000249.3(MLH1): c.1559-1G> Tsingle nucleotide variantPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
372MLH1NM_000249.3(MLH1): c.1559-2A> Gsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
373MLH1NM_000249.3(MLH1): c.1559-2A> Tsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
374MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
375MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenic
376MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenic
377MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
378MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
379MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
380MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
381MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
382MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)single nucleotide variantPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
383MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionLikely pathogenic, Pathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
384MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
385MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
386MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)single nucleotide variantPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
387MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)single nucleotide variantPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
388MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)single nucleotide variantPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
389MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
390MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
391MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
392MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
393MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
394MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
395MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)single nucleotide variantPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
396MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)single nucleotide variantPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
397MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
398MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
399MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)single nucleotide variantPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
400MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenic
401MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenic
402MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
403MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
404MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
405MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)single nucleotide variantPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
406MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)single nucleotide variantPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
407MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
408MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
409MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
410MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
411MLH1NM_000249.3(MLH1): c.1731+1G> Asingle nucleotide variantPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
412MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
413MLH1NM_000249.3(MLH1): c.1731+5G> Asingle nucleotide variantPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
414MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
415MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)single nucleotide variantPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
416MLH1NM_000249.3(MLH1): c.1732-1G> Asingle nucleotide variantPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
417MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
418MLH1NM_000249.3(MLH1): c.1732-2A> Tsingle nucleotide variantPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
419MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
420MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenic
421MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenic
422MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
423MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
424MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
425MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
426MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
427MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
428MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
429MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
430MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
431MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
432MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
433MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
434MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)single nucleotide variantPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
435MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
436MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)single nucleotide variantPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
437MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
438MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
439MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
440MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
441MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
442MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)single nucleotide variantPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
443MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
444MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
445MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
446MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)single nucleotide variantPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
447MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
448MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
449MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
450MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
451MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
452MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)single nucleotide variantPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
453MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenic
454MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)single nucleotide variantPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
455MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
456MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
457MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh38Chr 3, 37048524: 37048524
458MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
459MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationLikely pathogenic, Pathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
460MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
461MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
462MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
463MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
464MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
465MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
466MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
467MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
468MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
469MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)single nucleotide variantPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
470MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
471MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)single nucleotide variantPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
472MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
473MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
474MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
475MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
476MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
477MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
478MLH1NM_000249.3(MLH1): c.1989+1G> Asingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
479MLH1NM_000249.3(MLH1): c.1989+1G> Tsingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
480MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)single nucleotide variantPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
481MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
482MLH1NM_000249.3(MLH1): c.1990-1G> Asingle nucleotide variantPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
483MLH1NM_000249.3(MLH1): c.1990-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
484MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
485MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
486MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
487MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
488MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
489MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
490MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
491MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)single nucleotide variantPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
492MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
493MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)single nucleotide variantPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
494MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)single nucleotide variantPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
495MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)single nucleotide variantLikely pathogenic, Pathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
496MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
497MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
498MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
499MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
500MLH1NM_000249.3(MLH1): c.207+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
501MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
502MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenic
503MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
504MLH1NM_000249.3(MLH1): c.208-1G> Asingle nucleotide variantPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
505MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
506MLH1NM_000249.3(MLH1): c.208-2A> Gsingle nucleotide variantPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
507MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenic
508MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenic
509MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenic
510MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenic
511MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)single nucleotide variantPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
512MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
513MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)single nucleotide variantPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
514MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
515MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)single nucleotide variantPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
516MLH1NM_000249.3(MLH1): c.2103+1G> Asingle nucleotide variantPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
517MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)single nucleotide variantPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
518MLH1NM_000249.3(MLH1): c.2104-2A> Tsingle nucleotide variantPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
519MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
520MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
521MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
522MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
523MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
524MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
525MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
526MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
527MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
528MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
529MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
530MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
531MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
532MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
533MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
534MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)single nucleotide variantPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
535MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
536MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
537MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)single nucleotide variantPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
538MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
539MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
540MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
541MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
542MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
543MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
544MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)single nucleotide variantPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
545MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
546MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
547MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)single nucleotide variantPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
548MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
549MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
550MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
551MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
552MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)single nucleotide variantPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
553MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
554MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)single nucleotide variantPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
555MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)single nucleotide variantPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
556MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
557MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)single nucleotide variantPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
558MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
559MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
560MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
561MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)single nucleotide variantPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
562MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
563MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
564MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
565MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
566MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
567MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenic
568MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
569MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)single nucleotide variantPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
570MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
571MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
572MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
573MLH1NM_000249.3(MLH1): c.350C> G (p.Thr117Arg)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
574MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
575MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
576MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
577MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)single nucleotide variantPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
578MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
579MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
580MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
581MLH1NM_000249.3(MLH1): c.380+2T> Asingle nucleotide variantPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
582MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
583MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenic
584MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
585MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
586MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
587MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
588MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
589MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
590MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
591MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)single nucleotide variantPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
592MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)single nucleotide variantPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
593MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
594MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
595MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
596MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
597MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
598MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)single nucleotide variantPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
599MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
600MLH1NM_000249.3(MLH1): c.453+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs267607750GRCh37Chr 3, 37048555: 37048555
601MLH1NM_000249.3(MLH1): c.453+2T> Csingle nucleotide variantPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
602MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
603MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
604MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
605MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
606MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenic
607MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)single nucleotide variantPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
608MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
609MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
610MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)single nucleotide variantPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
611MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
612MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
613MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
614MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
615MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
616MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
617MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
618MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
619MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)single nucleotide variantPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
620MLH1NM_000249.3(MLH1): c.545+3A> Gsingle nucleotide variantPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
621MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)single nucleotide variantPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
622MLH1NM_000249.3(MLH1): c.546-2A> Csingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
623MLH1NM_000249.3(MLH1): c.546-2A> Gsingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
624MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
625MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenic
626MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenic
627MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenic
628MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)single nucleotide variantPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
629MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)single nucleotide variantPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
630MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
631MLH1NM_000249.3(MLH1): c.588+1G> Tsingle nucleotide variantPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
632MLH1NM_000249.3(MLH1): c.588+5G> Asingle nucleotide variantPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
633MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
634MLH1NM_000249.3(MLH1): c.589-2A> Gsingle nucleotide variantPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
635MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
636MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)single nucleotide variantPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
637MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
638MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)single nucleotide variantPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
639MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
640MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
641MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
642MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
643MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
644MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
645MLH1NM_000249.3(MLH1): c.677+1G> Tsingle nucleotide variantPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
646MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
647MLH1NM_000249.3(MLH1): c.677+3A> Gsingle nucleotide variantPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
648MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)single nucleotide variantPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
649MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)single nucleotide variantLikely pathogenic, Pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
650MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
651MLH1NM_000249.3(MLH1): c.678-1G> Csingle nucleotide variantPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
652MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
653MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
654MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenic
655MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenic
656MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)single nucleotide variantPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
657MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
658MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
659MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
660MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
661MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
662MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)single nucleotide variantPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
663MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
664MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)single nucleotide variantPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
665MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
666MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
667MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
668MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
669MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)single nucleotide variantPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
670MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
671MLH1NM_000249.3(MLH1): c.790+1G> Asingle nucleotide variantPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
672MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
673MLH1NM_000249.3(MLH1): c.790+2T> Csingle nucleotide variantPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
674MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
675MLH1NM_000249.3(MLH1): c.791-1G> Csingle nucleotide variantPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
676MLH1NM_000249.3(MLH1): c.791-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
677MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
678MLH1NM_000249.3(MLH1): c.791-5T> Gsingle nucleotide variantPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
679MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenic
680MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenic
681MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
682MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)single nucleotide variantLikely pathogenic, Pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
683MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
684MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
685MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
686MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)single nucleotide variantPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
687MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)single nucleotide variantPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
688MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)single nucleotide variantPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
689MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
690MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)single nucleotide variantPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
691MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
692MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
693MLH1NM_000249.3(MLH1): c.85G> T (p.Ala29Ser)single nucleotide variantPathogenicrs63750656GRCh37Chr 3, 37035123: 37035123
694MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
695MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
696MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
697MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
698MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)single nucleotide variantPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
699MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)single nucleotide variantPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
700MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
701MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
702MLH1NM_000249.3(MLH1): c.884+4A> Gsingle nucleotide variantPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
703MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
704MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
705MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
706MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
707MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
708MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
709MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenic
710MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenic
711MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)single nucleotide variantPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
712MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
713MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
714MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)single nucleotide variantPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
715MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)single nucleotide variantPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
716MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
717MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
718MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
719MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
720MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
721MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
722MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
723MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)single nucleotide variantPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
724MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
725MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
726MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenic
727MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
728MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
729MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
730MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
731MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
732MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
733MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
734MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
735MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
736MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
737MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
738MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenic
739MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
740MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenic
741MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenic
742MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
743MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenic
744MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
745MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
746MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)single nucleotide variantPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
747MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
748MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
749MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)single nucleotide variantPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
750MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
751MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
752MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
753MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
754MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
755MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
756MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
757MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)single nucleotide variantPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
758MSH2NM_000251.2(MSH2): c.1076+1G> Asingle nucleotide variantPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
759MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
760MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
761MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
762MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenic
763MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenic
764MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenic
765MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenic
766MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenic
767MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)single nucleotide variantPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
768MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
769MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
770MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
771MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
772MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
773MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
774MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)single nucleotide variantPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
775MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
776MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
777MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
778MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
779MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)single nucleotide variantPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
780MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
781MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)single nucleotide variantPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
782MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
783MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
784MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
785MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
786MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
787MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)single nucleotide variantPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
788MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
789MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)single nucleotide variantPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
790MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
791MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
792MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
793MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
794MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
795MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
796MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
797MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)single nucleotide variantPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
798MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)single nucleotide variantPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
799MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
800MSH2NM_000251.2(MSH2): c.1276+1G> Asingle nucleotide variantPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
801MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
802MSH2NM_000251.2(MSH2): c.1277-2A> Gsingle nucleotide variantPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
803MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
804MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
805MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
806MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenic
807MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenic
808MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenic
809MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenic
810MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)single nucleotide variantPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
811MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
812MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)single nucleotide variantPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
813MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)single nucleotide variantPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
814MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)single nucleotide variantPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
815MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
816MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
817MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)single nucleotide variantPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
818MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
819MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
820MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)single nucleotide variantPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
821MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
822MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
823MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)single nucleotide variantPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
824MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)single nucleotide variantPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
825MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
826MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)single nucleotide variantPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
827MSH2NM_000251.2(MSH2): c.1386+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
828MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
829MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
830MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenic
831MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenic
832MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenic
833MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenic
834MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
835MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
836MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
837MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)single nucleotide variantPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
838MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)single nucleotide variantPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
839MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
840MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)single nucleotide variantPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
841MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
842MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
843MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
844MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)single nucleotide variantPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
845MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
846MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
847MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
848MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
849MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
850MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
851MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
852MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)single nucleotide variantPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
853MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
854MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
855MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
856MSH2NM_000251.2(MSH2): c.1511-2A> Gsingle nucleotide variantPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
857MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenic
858MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
859MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
860MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)single nucleotide variantPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
861MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
862MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)single nucleotide variantPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
863MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
864MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
865MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
866MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
867MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
868MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
869MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
870MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
871MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
872MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)single nucleotide variantPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
873MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
874MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
875MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
876MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenic
877MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenic
878MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
879MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
880MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
881MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)single nucleotide variantPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
882MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
883MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
884MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
885MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
886MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
887MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
888MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)single nucleotide variantPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
889MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
890MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
891MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
892MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
893MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
894MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)single nucleotide variantPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
895MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
896MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
897MSH2NM_000251.2(MSH2): c.1759+2T> Asingle nucleotide variantPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
898MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
899MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)single nucleotide variantPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
900MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
901MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
902MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenic
903MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenic
904MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
905MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)single nucleotide variantPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
906MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
907MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)single nucleotide variantPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
908MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
909MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
910MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
911MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
912MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
913MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)single nucleotide variantPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
914MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
915MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)single nucleotide variantPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
916MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
917MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)single nucleotide variantPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
918MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
919MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
920MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
921MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
922MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
923MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)single nucleotide variantPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
924MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
925MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
926MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionLikely pathogenic, Pathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
927MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
928MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
929MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)single nucleotide variantPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
930MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
931MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionLikely pathogenic, Pathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
932MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
933MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
934MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
935MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
936MSH2NM_000251.2(MSH2): c.2005+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
937MSH2NM_000251.2(MSH2): c.2005+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
938MSH2NM_000251.2(MSH2): c.2005+2T> Csingle nucleotide variantPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
939MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenicrs267607990GRCh37Chr 2, 47703501: 47703501
940MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenic
941MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)single nucleotide variantPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
942MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
943MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
944MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
945MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
946MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
947MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)single nucleotide variantPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
948MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
949MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
950MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)single nucleotide variantPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
951MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
952MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
953MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)single nucleotide variantPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
954MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)single nucleotide variantPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
955MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)single nucleotide variantPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
956MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)single nucleotide variantPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
957MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)single nucleotide variantPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
958MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionLikely pathogenic, Pathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
959MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
960MSH2NM_000251.2(MSH2): c.212-1G> Asingle nucleotide variantPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
961MSH2NM_000251.2(MSH2): c.212-478T> Gsingle nucleotide variantPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
962MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenic
963MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenic
964MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenic
965MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenic
966MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenic
967MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenic
968MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenic
969MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
970MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
971MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
972MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)single nucleotide variantPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
973MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
974MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
975MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)single nucleotide variantPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
976MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
977MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
978MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
979MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenic
980MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
981MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
982MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
983MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)single nucleotide variantPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
984MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
985MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
986MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
987MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)single nucleotide variantPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
988MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
989MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)single nucleotide variantPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
990MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)single nucleotide variantPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
991MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
992MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)single nucleotide variantPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
993MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)single nucleotide variantPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
994MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
995MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
996MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
997MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
998MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)single nucleotide variantPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
999MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1000MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1001MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1002MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1003MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1004MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1005MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1006MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1007MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)single nucleotide variantPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1008MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1009MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)single nucleotide variantPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1010MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1011MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)single nucleotide variantPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1012MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)single nucleotide variantPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1013MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1014MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenic
1015MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1016MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1017MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1018MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1019MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionLikely pathogenic, Pathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1020MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1021MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1022MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1023MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1024MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)single nucleotide variantPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1025MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1026MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1027MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1028MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)single nucleotide variantPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1029MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1030MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)single nucleotide variantPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1031MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1032MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1033MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)single nucleotide variantPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1034MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1035MSH2NM_000251.2(MSH2): c.2634+5G> Csingle nucleotide variantPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1036MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)single nucleotide variantPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1037MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh38Chr 2, 47482779: 47483221
1038MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1039MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1040MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1041MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1042MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)single nucleotide variantPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1043MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1044MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1045MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)single nucleotide variantPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1046MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1047MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)single nucleotide variantPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1048MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)single nucleotide variantPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1049MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1050MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1051MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1052MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1053MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1054MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1055MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)single nucleotide variantPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1056MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1057MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1058MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1059MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1060MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenic
1061MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenic
1062MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenic
1063MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenic
1064MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenic
1065MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenic
1066MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1067MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1068MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1069MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1070MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1071MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1072MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1073MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)single nucleotide variantPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1074MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1075MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1076MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1077MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)single nucleotide variantPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1078MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)single nucleotide variantPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1079MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1080MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1081MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1082MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1083MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1084MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionLikely pathogenic, Pathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1085MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)single nucleotide variantPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1086MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1087MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)single nucleotide variantPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1088MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1089MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1090MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1091MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionLikely pathogenic, Pathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1092MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1093MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1094MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1095MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)single nucleotide variantPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1096MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)single nucleotide variantPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1097MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1098MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1099MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1100MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1101MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1102MSH2NM_000251.2(MSH2): c.645+1G> Asingle nucleotide variantPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1103MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1104MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1105MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1106MSH2NM_000251.2(MSH2): c.646-3T> Gsingle nucleotide variantPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1107MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1108MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenic
1109MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenic
1110MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenic
1111MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenic
1112MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenic
1113MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1114MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1115MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1116MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)single nucleotide variantPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1117MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1118MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1119MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1120MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1121MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1122MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1123MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1124MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1125MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1126MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1127MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1128MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1129MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)single nucleotide variantPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1130MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1131MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1132MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1133MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1134MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1135MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1136MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1137MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1138MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1139MSH2NM_000251.2(MSH2): c.792+1G> Asingle nucleotide variantPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1140MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1141MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1142MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenic
1143MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenic
1144MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenic
1145MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenic
1146MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1147MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1148MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1149MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1150MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1151MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1152MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1153MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1154MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1155MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)single nucleotide variantPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1156MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)single nucleotide variantPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1157MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1158MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)single nucleotide variantPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1159MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1160MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1161MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1162MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1163MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1164MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)single nucleotide variantPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1165MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)single nucleotide variantPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1166MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1167MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)single nucleotide variantPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1168MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)single nucleotide variantPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1169MSH2NM_000251.2(MSH2): c.943-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1170MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1171MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenic
1172MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1173MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1174MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)single nucleotide variantPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1175MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh38Chr 2, 47416323: 47416324
1176MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1177MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenic
1178MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1179MSH2NM_000251.2(MSH2): c.998G> A (p.Cys333Tyr)single nucleotide variantPathogenicrs63750828GRCh37Chr 2, 47643490: 47643490
1180PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenic
1181PMS2NM_000535.5(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1182PMS2NM_000535.5(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1183PMS2NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh37Chr 7, 6029554: 6029554
1184PMS2NM_000535.5(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1185PMS2NM_000535.5(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1186PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenic
1187PMS2NM_000535.5(PMS2): c.1145-?_2174+?deldeletionPathogenic
1188PMS2NM_000535.5(PMS2): c.1145-?_2445+?deldeletionPathogenic
1189PMS2NM_000535.5(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1190PMS2NM_000535.5(PMS2): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1191PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1192PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1193PMS2NM_000535.5(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1194PMS2NM_000535.5(PMS2): c.1738A> T (p.Lys580Ter)single nucleotide variantPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1195PMS2NM_000535.5(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1196PMS2NM_000535.5(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1197PMS2NM_000535.5(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1198PMS2NM_000535.5(PMS2): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1199PMS2NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1200PMS2NM_000535.5(PMS2): c.1939A> T (p.Lys647Ter)single nucleotide variantPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1201PMS2NM_000535.5(PMS2): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenic, Pathogenicrs587779333GRCh37Chr 7, 6048650: 6048650
1202PMS2NM_000535.5(PMS2): c.2113G> A (p.Glu705Lys)single nucleotide variantPathogenicrs267608161GRCh37Chr 7, 6022516: 6022516
1203PMS2NM_000535.5(PMS2): c.2174+1G> Asingle nucleotide variantPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1204PMS2NM_000535.5(PMS2): c.2186_2187delTC (p.Leu729Glnfs)deletionLikely pathogenic, Pathogenicrs587779335GRCh37Chr 7, 6018315: 6018316
1205PMS2NM_000535.5(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1206PMS2NM_000535.5(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1207PMS2NM_000535.5(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1208PMS2NM_000535.5(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1209PMS2NM_000535.5(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1210PMS2NM_000535.5(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1211PMS2NM_000535.5(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1212PMS2NM_000535.5(PMS2): c.24-?_163+?deldeletionPathogenic
1213PMS2NM_000535.5(PMS2): c.354-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1214PMS2NM_000535.5(PMS2): c.354-?_803+?deldeletionPathogenic
1215PMS2NM_000535.5(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1216PMS2NM_000535.5(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1217PMS2NM_000535.5(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1218PMS2NM_000535.5(PMS2): c.697C> T (p.Gln233Ter)single nucleotide variantPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1219PMS2NM_000535.5(PMS2): c.703C> T (p.Gln235Ter)single nucleotide variantPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1220PMS2NM_000535.5(PMS2): c.706-?_803+?deldeletionPathogenic
1221PMS2NM_000535.5(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1222PMS2NM_000535.5(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1223PMS2NM_000535.5(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1224PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenic
1225PMS2NM_000535.5(PMS2): c.804-?_2006+?deldeletionPathogenic
1226PMS2NM_000535.5(PMS2): c.804-?_903+?deldeletionPathogenic
1227PMS2NM_000535.5(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1228PMS2NM_000535.5(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1229PMS2NM_000535.5(PMS2): c.904-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1230PMS2NM_000535.5(PMS2): c.904-?_1144+?deldeletionPathogenic
1231PMS2NM_000535.5(PMS2): c.904-?_988+?deldeletionPathogenic
1232PMS2NM_000535.5(PMS2): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1233PMS2NM_000535.5(PMS2): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1234PMS2NM_000535.5(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1235PMS2NM_000535.5(PMS2): c.989-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1236PMS2NM_000535.5(PMS2): c.989-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1237PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1238PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1239PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1240PMS2NM_000535.5(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1241PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1242MSH6NM_000179.2(MSH6): c.3516_3517delAG (p.Arg1172Serfs)deletionPathogenicrs398123232GRCh37Chr 2, 48032126: 48032127

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 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0MLH1, MSH2, TP53
29.9MLH1, MSH2, MSH6, PMS2
39.9MSH6, POLE, TP53
4
Show member pathways
9.9BRCA1, BRCA2, MLH1, PMS2
59.9BRAF, KRAS, TP53
6
Show member pathways
9.8BRCA1, BRCA2, MLH1, MLH3
7
Show member pathways
9.8BRCA1, MSH2, MSH6, TP53
8
Show member pathways
9.7BRCA1, BRCA2, EXO1, POLE
99.7APC, MLH1, MSH2, PMS2, TP53
10
Show member pathways
9.7BRCA1, BRCA2, MSH2, MSH6, TP53
119.6BRAF, CDKN2A, KRAS, TP53
129.6APC, BRCA1, BRCA2, KRAS, TP53
139.5APC, BRCA1, CDKN2A, KRAS, TP53
149.5APC, BRAF, CDKN2A, KRAS, TP53
15
Show member pathways
9.5BRAF, BRCA2, CDKN2A, KRAS, TP53
169.4APC, CDKN2A, KRAS, POLE, TP53
179.3BRCA1, BRCA2, MLH1, MSH2, MSH3, MSH6
189.3BRAF, BRCA1, BRCA2, KRAS, MSH2, MSH6
19
Show member pathways
9.2BRCA1, BRCA2, MSH2, MSH3, MSH6, POLE
20
Show member pathways
9.2BRAF, BRCA1, BRCA2, CDKN2A, KRAS, MSH6
219.1BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6
229.1APC, BRAF, KRAS, MLH1, MSH2, MSH3
23
Show member pathways
9.1APC, BRAF, KRAS, MLH1, MSH2, MSH3
24
Show member pathways
9.0EXO1, MLH1, MLH3, MSH2, MSH3, MSH6
258.7APC, BRAF, BRCA2, CDKN2A, KRAS, MLH1
26
Show member pathways
8.6BRCA1, BRCA2, EXO1, 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
1chiasmaGO:000571211.0MLH1, MLH3
2MutSalpha complexGO:003230110.9MSH2, MSH6
3MutSbeta complexGO:003230210.9MSH2, MSH3
4MutLalpha complexGO:003238910.7MLH1, PMS1, PMS2
5nuclear chromosomeGO:000022810.6MSH2, MSH3, MSH6
6condensed chromosomeGO:000079310.5BRCA1, MLH1, MLH3
7condensed nuclear chromosomeGO:000079410.5BRCA1, MLH1, MLH3
8nucleoplasmGO:00056548.1APC, BRCA1, BRCA2, CDKN2A, EXO1, MLH1
9nucleusGO:00056347.8APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.9MLH1, MSH2
2postreplication repairGO:000630110.8BRCA1, MSH2
3meiotic mismatch repairGO:000071010.7MSH2, MSH3, MSH6
4positive regulation of helicase activityGO:005109610.7MSH2, MSH3, MSH6
5chordate embryonic developmentGO:004300910.6BRCA1, BRCA2
6negative regulation of DNA recombinationGO:004591010.6MSH2, MSH3, MSH6
7maintenance of DNA repeat elementsGO:004357010.6MSH2, MSH3, MSH6
8replicative senescenceGO:009039910.5CDKN2A, TP53
9determination of adult lifespanGO:000834010.5MSH2, MSH6, TP53
10DNA recombinationGO:000631010.4BRCA1, BRCA2, EXO1
11DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.4BRCA1, BRCA2, TP53
12chromosome breakageGO:003105210.4BRCA1, BRCA2, TP53
13somatic recombination of immunoglobulin gene segmentsGO:001644710.4MLH1, MSH2, MSH3, MSH6, PMS2
14response to X-rayGO:001016510.4BRCA2, MSH2, TP53
15chromosome organizationGO:005127610.4APC, BRCA2, TP53
16intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.4BRCA2, MSH2, TP53
17somatic hypermutation of immunoglobulin genesGO:001644610.3EXO1, MLH1, MSH2, MSH6, PMS2
18isotype switchingGO:004519010.3EXO1, MLH1, MSH2, MSH6
19positive regulation of cell cycle arrestGO:007115810.2BRCA1, CDKN2A, TP53
20intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.1BRCA1, BRCA2, MLH1, MSH2, MSH6
21double-strand break repair via synthesis-dependent strand annealingGO:004500310.1BRCA1, BRCA2, EXO1
22nucleic acid phosphodiester bond hydrolysisGO:009030510.0EXO1, PMS2, POLE
23cell cycle arrestGO:000705010.0APC, CDKN2A, MSH2, TP53
24reciprocal meiotic recombinationGO:00071319.9MLH1, MLH3, MSH2, MSH3, MSH6
25double-strand break repairGO:00063029.8BRCA1, BRCA2, EXO1, MSH2, TP53
26mismatch repairGO:00062989.6EXO1, MLH1, MLH3, MSH2, MSH3, MSH6
27Ras protein signal transductionGO:00072659.6BRAF, CDKN2A, KRAS, TP53
28cellular response to DNA damage stimulusGO:00069748.9APC, BRCA1, BRCA2, MLH1, MLH3, MSH2
29DNA repairGO:00062818.5BRCA1, BRCA2, EXO1, MLH1, MSH2, MSH3

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:003214310.9MSH2, MSH6
2heteroduplex DNA loop bindingGO:000040410.8MSH2, MSH3
3double-strand/single-strand DNA junction bindingGO:000040610.8MSH2, MSH3
4dinucleotide repeat insertion bindingGO:003218110.8MSH2, MSH3
5dinucleotide insertion or deletion bindingGO:003213910.8MSH2, MSH3
6structure-specific DNA bindingGO:004356610.8EXO1, MLH1
7Y-form DNA bindingGO:000040310.8MSH2, MSH3
8MutSalpha complex bindingGO:003240710.7MLH1, MUTYH, PMS2
9guanine/thymine mispair bindingGO:003213710.7MSH2, MSH3, MSH6
10single guanine insertion bindingGO:003214210.7MSH2, MSH3, MSH6
11MutLalpha complex bindingGO:003240510.7MSH2, MSH6, MUTYH
12oxidized purine DNA bindingGO:003235710.7MSH2, MSH3, MSH6
13centromeric DNA bindingGO:001923710.7MLH3, MSH2, MSH3
14LRR domain bindingGO:003027510.6KRAS, LRRFIP2
15four-way junction DNA bindingGO:000040010.6MSH2, MSH6
16DNA-dependent ATPase activityGO:000809410.4MSH2, MSH3, MSH6
17mismatched DNA bindingGO:003098310.1MLH1, MLH3, MSH2, MSH3, MSH6, PMS1
18damaged DNA bindingGO:000368410.0BRCA1, MSH2, MSH3, MSH6, TP53
19ATPase activityGO:00168879.9MLH1, MLH3, MSH2, MSH6, PMS1, PMS2
20single-stranded DNA bindingGO:00036979.8BRCA2, MLH1, MLH3, MSH2, MSH3, PMS1
21ATP bindingGO:00055249.0BRAF, MLH1, MLH3, MSH2, MSH3, MSH6
22DNA bindingGO:00036778.8BRCA1, CDKN2A, EXO1, MSH2, MSH3, MSH6

Sources for Lynch Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet