MCID: LYN001
MIFTS: 69

Lynch Syndrome malady

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

Aliases & Classifications for Lynch Syndrome

About this section
Sources:
65UMLS, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lynch Syndrome:

Name: Lynch Syndrome 10 68 21 45 22 23 47 12 51 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
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 65
Colorectal Neoplasms, Hereditary Nonpolyposis 36
Hereditary Defective Mismatch Repair Syndrome 10
Hereditary Non-Polyposis Colon Cancer Type 1 10
Hnpcc - Hereditary Nonpolyposis Colon Cancer 10
 
Hereditary Non-Polyposis Colon Cancer Type 2 65
Hereditary Nonpolyposis Colorectal Neoplasm 10
Colorectal Cancer, Hereditary Nonpolyposis 45
Hereditary Nonpolyposis Colon Cancer 47
Lynch Syndrome Type Ii 24
Lynch Syndrome Type I 24
Lynch Syndrome Ii 47
Lynch Syndrome I 47
Lynch Syndrome 2 45
Lynch Syndrome 1 45
Coca 1 10
Coca1 45

Characteristics:

Orphanet epidemiological data:

51
lynch syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult

Classifications:



External Ids:

Disease Ontology10 DOID:3883
MeSH36 D003123
NCIt42 C8494
Orphanet51 144
SNOMED-CT59 315058005
ICD10 via Orphanet28 C18, C18.0, C18.1 C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.9, more
MESH via Orphanet37 D003123
UMLS via Orphanet66 C1333990
UMLS65 C0009405, C1333990, C2936783 C1333991, more

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 mismatch repair cancer syndrome and muir-torre syndrome, and has symptoms including weight loss, anemia and constipation. An important gene associated with Lynch Syndrome is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include colon, brain and small intestine, and related mouse phenotypes are pigmentation and adipose tissue.

Disease Ontology:10 An autosomal dominant disease that is characterized by \nand 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

Wikipedia:68 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic... more...

GeneReviews summary for NBK1211

Related Diseases for Lynch Syndrome

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Diseases in the Lynch Syndrome family:

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

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

(show top 50)    (show all 511)
idRelated DiseaseScoreTop Affiliating Genes
1mismatch repair cancer syndrome31.6APC, MLH1, MSH2, MSH6, PMS1, PMS2
2muir-torre syndrome31.2MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
3allergic contact dermatitis31.1MLH1, MSH2, MSH6
4chondroblastoma30.9MLH1, MSH2, PMS1
5leukemoid reaction30.8MLH1, MSH2, MSH6
6pilocytic astrocytoma30.8BRAF, TP53
7vascular dementia30.8BRCA1, BRCA2, TP53
8herpes simplex30.7BRAF, TP53
9gingival recession29.9APC, KRAS, MUTYH, TGFBR2, TP53
10hepatocellular carcinoma29.8APC, EPCAM, MSH2, PIK3CA, TGFBR2, TP53
11breast cancer29.7APC, BRCA1, BRCA2, EPCAM, KRAS, MLH1
12colorectal cancer27.6APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
13tgbfr2-related lynch syndrome12.3
14mlh3-related lynch syndrome12.3
15mlh1-related lynch syndrome12.2
16msh2-related lynch syndrome12.2
17msh6-related lynch syndrome12.2
18pms2-related lynch syndrome12.2
19epcam-related lynch syndrome12.2
20pms1-related lynch syndrome12.2
21colorectal cancer, hereditary nonpolyposis, type 111.8
22gastric cancer10.8
23ovarian cancer10.8
24congenital pulmonary veins atresia or stenosis10.7BRCA1, BRCA2
25bronchiolitis obliterans10.7BRCA1, BRCA2
26small non-cleaved cell lymphoma10.7MLH1, MSH2, MSH6
27intracranial abscess10.7MLH1, MSH3, MSH6
28post-surgical hypoinsulinemia10.7MSH2, PMS1
29autoimmune polyendocrine syndrome type 110.7BRCA1, BRCA2
30chorioretinitis10.7MLH1, MSH2
31autoimmune disease of urogenital tract10.7BRCA1, BRCA2
32doyne honeycomb degeneration of retina10.7MLH1, MSH2, MSH6, PMS2
33colon adenoma10.7MLH1, MSH2, MSH6, PMS2
34breast cancer, childhood10.7APC, BRCA1, BRCA2
35malignant testicular leydig cell tumor10.7BRCA1, BRCA2
36brca2 hereditary breast and ovarian cancer syndrome10.7APC, BRCA1, BRCA2
37skin squamous cell carcinoma10.7MLH1, MSH2, TP53
38pancreatic serous cystadenocarcinoma10.6BRCA1, BRCA2, TP53
39cystadenoma10.6BRCA1, BRCA2, TP53
40endometrial mucinous adenocarcinoma10.6BRCA1, BRCA2, TP53
41neurofibromatosis, familial spinal10.6APC, MLH1, MSH6, PMS2
42internal auditory canal lipoma10.6BRCA1, BRCA2, TP53
43peritoneal cystic mesothelioma10.6BRCA1, BRCA2, TP53
44fallopian tube leiomyosarcoma10.6BRCA1, BRCA2, TP53
45lymphatic system cancer10.6BRCA1, BRCA2, TP53
46mutiple parosteal osteochondromatous proliferations10.6BRCA1, BRCA2, TP53
47primary thrombocytopenia10.6BRAF, MLH1, TP53
48pancreatic cancer 410.6BRCA1, BRCA2
49tetrasomy 2110.6BRCA1, BRCA2, TP53
50splenogonadal fusion limb defects micrognatia10.6BRAF, TP53

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



Diseases related to lynch syndrome

Symptoms for Lynch Syndrome

About this section

Symptoms:

 51 (show all 24)
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • intestinal perforation
  • anaemia
  • colon neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • ascitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • recurrent urinary infections

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 top 50)    (show all 75)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 3, Phase 11875216974-75-3
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 2269797-63-7, 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
LoperamideapprovedPhase 311253179-11-63955
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
4
FluorouracilapprovedPhase 3168451-21-83385
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
5
leucovorinapprovedPhase 39521492-18-854575
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 3132261825-94-35310940, 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
AspirinapprovedPhase 3102950-78-22244
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
8
Folic Acidapproved, nutraceuticalPhase 3292459-30-36037
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
9Contraceptives, OralPhase 3, Phase 23734
10AnalgesicsPhase 3, Phase 2, Phase 19358
11MitogensPhase 3, Phase 11386
12Peripheral Nervous System AgentsPhase 3, Phase 2, Phase 118510
13Contraceptive AgentsPhase 3, Phase 21706
14Analgesics, Non-NarcoticPhase 3, Phase 2, Phase 15184
15Angiogenesis Modulating AgentsPhase 3, Phase 13611
16Angiogenesis InhibitorsPhase 3, Phase 13688
17Cyclooxygenase InhibitorsPhase 3, Phase 2, Phase 12225
18Endothelial Growth FactorsPhase 3, Phase 1328
19Antirheumatic AgentsPhase 3, Phase 2, Phase 18496
20Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 18478
21Anti-Inflammatory Agents, Non-SteroidalPhase 3, Phase 2, Phase 13549
22AntidiarrhealsPhase 3112
23VitaminsPhase 33857
24ImmunoglobulinsPhase 34477
25Gastrointestinal AgentsPhase 36401
26AntibodiesPhase 34477
27Bone Density Conservation AgentsPhase 32600
28Calcium, DietaryPhase 34678
29Antimetabolites, AntineoplasticPhase 35770
30Antibodies, MonoclonalPhase 32413
31HematinicsPhase 31121
32AntimetabolitesPhase 39454
33Immunoglobulin GPhase 3146
34Immunologic FactorsPhase 3, Phase 1, Phase 218483
35Immunosuppressive AgentsPhase 310422
36MicronutrientsPhase 33901
37Protective AgentsPhase 35651
38Trace ElementsPhase 33900
39LevoleucovorinPhase 3676
40Vitamin B ComplexPhase 32847
41Platelet Aggregation InhibitorsPhase 31935
42AntipyreticsPhase 31140
43Fibrinolytic AgentsPhase 31567
44ColaNutraceuticalPhase 3, Phase 2, Phase 11768
45Vitamin B9NutraceuticalPhase 32924
46Folinic AcidNutraceuticalPhase 32604
47FolateNutraceuticalPhase 32924
48
Celecoxibapproved, investigationalPhase 2, Phase 1419169590-42-52662
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
49
Estradiolapproved, investigationalPhase 2109450-28-25757, 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
50
Medroxyprogesterone Acetateapproved, investigationalPhase 213671-58-9
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

Interventional clinical trials:

(show top 50)    (show all 64)
idNameStatusNCT IDPhase
1Use of Post Operative Loperamide in Colorectal Patients After Diverting IleostomiesRecruitingNCT02263365Phase 3
2Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
3Aspirin as a Cancer Preventive in Carriers of a Germline Pathological Mismatch Repair Gene Defect, Lynch SyndromeNot yet recruitingNCT02497820Phase 3
4Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel AdenocarcinomaNot yet recruitingNCT02502370Phase 3
5Intrauterine 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
6CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer SyndromeCompletedNCT00224601Phase 2
7Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon CancerCompletedNCT00033358Phase 2
8Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSIActive, not recruitingNCT01885702Phase 1, Phase 2
9Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal CancersActive, not recruitingNCT00503035Phase 2
10Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous PolyposisTerminatedNCT00033371Phase 2
11Phase 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
12Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
13Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous PolyposisCompletedNCT00685568Phase 1
14Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
15A Social Media Approach to Improve Genetic Risk Communication Phase IActive, not recruitingNCT01645904Phase 1
16Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer SurveillanceCompletedNCT00313755
17Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal CancerCompletedNCT00450424
18Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00508846
19Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch SyndromeCompletedNCT00905710
20Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00341575
21Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch SyndromeCompletedNCT00898768Phase 0
22Molecular Screening for Lynch Syndrome in Southern DenmarkCompletedNCT01216930
23Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
24Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00004210
25Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402
26Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
27Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
28Oligogenic Determinism of Colorectal CancerCompletedNCT01057953
29Combined Colon and Endometrial Cancer Screening in Women With HNPCCCompletedNCT00510796
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
32Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal CancerRecruitingNCT00675636
33The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)RecruitingNCT01447199
34Implementation of a New Strategy to Identify HNPCC PatientsRecruitingNCT00141466
35Registry for Women Who Are At Risk Or May Have Lynch SyndromeRecruitingNCT00508573
36Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
37Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian CancerRecruitingNCT02494791
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

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

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

Animal Models for Lynch Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Lynch Syndrome:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.3APC, BRAF, BRCA1, KRAS, TP53
2MP:000537510.1APC, BRAF, BRCA1, PIK3CA, TGFBR2, TP53
3MP:00053809.9APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
4MP:00053899.7APC, BRAF, BRCA1, BRCA2, EXO1, KRAS
5MP:00053819.7APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
6MP:00036319.6APC, BRAF, BRCA1, BRCA2, EPCAM, KRAS
7MP:00107719.6APC, BRAF, BRCA1, BRCA2, KRAS, MLH1
8MP:00053799.5APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
9MP:00053979.1APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
10MP:00053879.1APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
11MP:00020069.0APC, BRAF, BRCA1, BRCA2, EXO1, KRAS
12MP:00053849.0APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
13MP:00053769.0APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1
14MP:00107688.8APC, BRAF, BRCA1, BRCA2, EPCAM, EXO1

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50)    (show all 638)
idTitleAuthorsYear
1
Genetic Variation Determines PPARI^ Function and Anti-diabetic Drug Response In Vivo. (26140591)
2015
2
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
3
The role of phosphatases in the initiation of skeletal mineralization. (23183786)
2013
4
Interleukin-4 receptor I+-chain polymorphisms and susceptibility to allergic rhinitis: a meta-analysis. (24337880)
2013
5
Cell surface F1/FO ATP synthase contributes to interstitial flow-mediated development of the acidic microenvironment in tumor tissues. (24067918)
2013
6
Serum basal tryptase may be a good marker for predicting the risk of anaphylaxis in children with food allergy. (24251444)
2013
7
Adenofibroma in a young patient: a rare entity in an uncommon age. (24459594)
2013
8
Castleman's Disease with Myasthenia Gravis. (22708092)
2012
9
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
10
Functional deficits of pertussis-specific CD4+ T cells in infants compared to adults following DTaP vaccination. (22861368)
2012
11
Medulloblastoma and gliomatosis cerebri: rare brain tumors in multiple sclerosis patients. (21234776)
2011
12
Alexithymia, craving and attachment in a heavy drinking population. (21215527)
2011
13
SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas. (20126410)
2010
14
Functional characterization of polymorphisms in the human TFPI gene. (20519147)
2010
15
Influence of HLA DRB1 alleles in the susceptibility of rheumatoid arthritis and the regulation of antibodies against citrullinated proteins and rheumatoid factor. (20370905)
2010
16
Chemotherapy-induced nausea and vomiting in the treatment of gastrointestinal tumors and secondary prophylaxis with aprepitant. (19209016)
2009
17
Is adiposity an under-recognized risk factor for tendinopathy? A systematic review. (19479698)
2009
18
Increased BTB-Kelch type substrate adaptor protein immunoreactivity associates with advanced stage and poor differentiation in renal cell carcinoma. (19424632)
2009
19
Induction of trophinin in human endometrial surface epithelia by CGbeta and IL-1beta. (18078818)
2008
20
Occupational conjunctivitis as the sole manifestation of airborne contact allergy to trimethylolpropane triacrylate contained in a UV-cured paint. (19076890)
2008
21
Connective tissue growth factor as a mediator of intraocular fibrosis. (18450591)
2008
22
The discovery of alpha-Klotho and FGF23 unveiled new insight into calcium and phosphate homeostasis. (18726073)
2008
23
Nucleoplasmic LAP2alpha-lamin A complexes are required to maintain a proliferative state in human fibroblasts. (17227891)
2007
24
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. (17702778)
2007
25
Sirolimus toxicity and vascular endothelial growth factor release from islet and renal cell lines. (17589348)
2007
26
A new plasma-adapted hydroxyethylstarch preparation: in vitro coagulation studies using thrombelastography and whole blood aggregometry. (17242103)
2007
27
Estrogen receptor beta expression is associated with tamoxifen response in ERalpha-negative breast carcinoma. (17404078)
2007
28
Evaluation of apoptosis in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. (16419109)
2006
29
Intravenous octreotide test predicts the long term outcome of treatment with octreotide-long-acting repeatable in active acromegaly. (15935982)
2005
30
Adipocyte expression and circulating levels of leptin increase in both gynaecological and breast cancer patients. (15138597)
2004
31
The role of the breast cancer susceptibility gene 1 (BRCA1) in sporadic epithelial ovarian cancer. (14613551)
2003
32
Amusia and musicogenic epilepsy. (14565905)
2003
33
Comparison of serum interleukin-10 (IL-10) levels between normal volunteers and patients with advanced melanoma. (11338880)
2001
34
Wnt-14 plays a pivotal role in inducing synovial joint formation in the developing appendicular skeleton. (11239392)
2001
35
Uptake of circulating insulin-like growth factors (IGFs) into cerebrospinal fluid appears to be independent of the IGF receptors as well as IGF-binding proteins. (11145584)
2001
36
Laparoscopic muscle electrostimulation during laparoscopy-assisted anorectal pull-through for high imperforate anus. (11685696)
2001
37
A native soluble form of CTLA-4. (10831323)
2000
38
Effects of erythromycin on human colonic circular muscle in idiopathic chronic constipation. (10620004)
2000
39
Time-dependent activation of the semicarbazide-sensitive amine oxidase (SSAO) from ox lung microsomes. (11042135)
2000
40
Ganglioside composition of a mouse brain tumor grown in the severe combined immunodeficiency (SCID) mouse. (9493174)
1998
41
Pulsatile stretch stimulates superoxide production in human aortic endothelial cells. (9396462)
1997
42
Pituitary-adrenal cortical axis measures as predictors of sustained remission in major depression. (9209724)
1997
43
Induction of differentiation by wild-type p53 gene in a human glioma cell line. (9120541)
1997
44
IgM, IgA and IgG class serum antibodies against Klebsiella pneumoniae and Escherichia coli lipopolysaccharides in patients with ankylosing spondylitis. (7981989)
1994
45
Regulation of CD14 expression during monocytic differentiation induced with 1 alpha,25-dihydroxyvitamin D3. (7522257)
1994
46
Lymphomatoid papulosis update. A historical perspective. (2679400)
1989
47
Biochemical aspects of malabsorption in marasmus: effect of dietary rehabilitation. (3939688)
1985
48
Cauda equina syndrome--a clinical study. (4712578)
1973
49
Lymphocyte abnormality in chronic mucocutaneous candidiasis. (4192497)
1970
50

Variations for Lynch Syndrome

About this section

Clinvar genetic disease variations for Lynch Syndrome:

5 (show all 1,425)
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
3MLH1NM_000249.3(MLH1): c.2190delT (p.Pro731Leufs)deletionLikely pathogenicrs587780683GRCh37Chr 3, 37092063: 37092063
4PMS2NM_000535.5(PMS2): c.1376C> A (p.Ser459Ter)single nucleotide variantPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
5PMS2NM_000535.5(PMS2): c.904-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs587781339GRCh37Chr 7, 6031690: 6031690
6MLH1NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
7PMS2NM_000535.5(PMS2): c.736_741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
8MSH6NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs)deletionLikely pathogenic, Pathogenicrs587782712GRCh37Chr 2, 48028159: 48028163
9MLH1NM_000249.3(MLH1): c.117-2A> Gsingle nucleotide variantPathogenicrs267607712GRCh37Chr 3, 37038108: 37038108
10PMS2NM_000535.5(PMS2): c.1144+1G> Asingle nucleotide variantLikely pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
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
13MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
14MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
15MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
16MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
17MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
18MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
19MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
20MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
21MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
22MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
23MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
24MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
25MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
26MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
27MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
28MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
29MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
30MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
31MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
32MSH6NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
33PMS2NM_000535.5(PMS2): c.765C> A (p.Tyr255Ter)single nucleotide variantPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
34MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
35MSH6NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs)duplicationPathogenicrs786201050GRCh37Chr 2, 48027352: 48027352
36PMS2NM_000535.5(PMS2): c.251-2A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
37MSH6NM_000179.2(MSH6): c.3980_3983dupATCA (p.Leu1330Valfs)duplicationLikely pathogenic, Pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
38MSH6NM_000179.2(MSH6): c.3801+5G> Asingle nucleotide variantLikely pathogenicrs201080919GRCh37Chr 2, 48033502: 48033502
39MSH6NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
40EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenic
41MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
42MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
43PMS2NM_000535.5(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh38Chr 7, 5987580: 5987580
44MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
45MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)single nucleotide variantPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
46MSH2NM_000251.2(MSH2): c.1077-?_1276+?dupduplicationLikely pathogenic
47MSH6NM_000179.2(MSH6): c.1107_1108delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026229: 48026230
48MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
49MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh37Chr 3, 37035039: 37035154
50MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
51MLH1NM_000249.3(MLH1): c.791-1G> Asingle nucleotide variantLikely pathogenicrs267607795GRCh38Chr 3, 37017505: 37017505
52MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
53MSH2NM_000251.2(MSH2): c.212-?_366+?dupduplicationLikely pathogenic
54PMS2NM_000535.5(PMS2): c.537+1G> Asingle nucleotide variantLikely pathogenicrs863224450GRCh37Chr 7, 6042083: 6042083
55EPCAMNM_002354.2(EPCAM): c.859-1G> Asingle nucleotide variantLikely pathogenicrs863224453GRCh37Chr 2, 47612304: 47612304
56MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
57MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
58MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
59MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
60MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh38Chr 2, 47803682: 47803682
61MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)single nucleotide variantPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
62MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
63MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh38Chr 2, 47403191: 47416429
64MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
65MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
66PMS2NM_000535.5(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
67PMS2NM_000535.5(PMS2): c.1297A> T (p.Lys433Ter)single nucleotide variantPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
68PMS2NM_000535.5(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
69PMS2NM_000535.5(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
70PMS2NM_000535.5(PMS2): c.989-?_1144+?deldeletionPathogenic
71MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh37Chr 2, 48026732: 48026735
72MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
73MSH2NM_000251.2(MSH2): c.793-?_1276+?dupduplicationLikely pathogenic
74MSH6NM_000179.2(MSH6): c.261-1G> Csingle nucleotide variantLikely pathogenicrs863225402GRCh37Chr 2, 48018065: 48018065
75MSH6NM_000179.2(MSH6): c.4028C> Gsingle nucleotide variantPathogenicrs863225420GRCh37Chr 2, 48033944: 48033944
76MSH2NM_000251.2(MSH2): c.1963_1964delGTdeletionPathogenicrs864622121GRCh37Chr 2, 47702367: 47702368
77MSH6NM_000179.2(MSH6): c.1691C> Asingle nucleotide variantPathogenicrs864622153GRCh38Chr 2, 47799674: 47799674
78MSH2NM_000251.2(MSH2): c.748G> Tsingle nucleotide variantPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
79PMS2NM_000535.5(PMS2): c.121G> Tsingle nucleotide variantPathogenicrs3209663GRCh37Chr 7, 6045565: 6045565
80MSH6NM_000179.2(MSH6): c.458-?_3172+?deldeletionPathogenic
81MLH1NM_000249.3(MLH1): c.381-1G> Asingle nucleotide variantLikely pathogenicrs267607744GRCh38Chr 3, 37006990: 37006990
82MSH6NM_000179.2(MSH6): c.2136delGdeletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
83MSH2NM_000251.2(MSH2): c.819_821delAATinsTGindelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
84PMS2NM_000535.5(PMS2): c.538-?_903+?deldeletionPathogenic
85MSH2NM_000251.2(MSH2): c.842C> Gsingle nucleotide variantPathogenicrs63749991GRCh38Chr 2, 47414318: 47414318
86MSH2NM_000251.2(MSH2): c.1023delTdeletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
87MLH1NM_000249.3(MLH1): c.1246A> Tsingle nucleotide variantPathogenicrs267607823GRCh37Chr 3, 37067335: 37067335
88EPCAMNM_002354.2(EPCAM): c.491+1G> Tsingle nucleotide variantPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
89MLH1NM_000249.3(MLH1): c.1558+1G> Asingle nucleotide variantLikely pathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
90MSH6NM_000179.2(MSH6): c.3526A> Tsingle nucleotide variantPathogenicrs786203968GRCh38Chr 2, 47804997: 47804997
91PMS2NM_000535.5(PMS2): c.2276-?_2445+?deldeletionPathogenic
92MSH6NM_000179.2(MSH6): c.1387G> Tsingle nucleotide variantPathogenicrs864622435GRCh37Chr 2, 48026509: 48026509
93MSH2NM_000251.2(MSH2): c.1662-12_1677deldeletionLikely pathogenicrs864622436GRCh37Chr 2, 47698092: 47698119
94MLH1NM_000249.3(MLH1): c.2177C> Gsingle nucleotide variantLikely pathogenicrs864622457GRCh38Chr 3, 37050559: 37050559
95MSH2NM_000251.2(MSH2): c.1563T> Asingle nucleotide variantPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
96MSH2NM_000251.2(MSH2): c.421_422delATdeletionPathogenicrs863224482GRCh37Chr 2, 47637287: 47637288
97MSH6NM_000179.2(MSH6): c.2308_2312delGGTAAinsTindelPathogenicrs864622585GRCh38Chr 2, 47800291: 47800295
98PMS2NM_000535.5(PMS2): c.1750dupAduplicationPathogenicrs864622600GRCh37Chr 7, 6026646: 6026646
99MLH1NM_000249.3(MLH1): c.545G> C (p.Arg182Thr)single nucleotide variantLikely pathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
100MLH1NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
101MSH2NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
102MSH6NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
103MSH6NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
104MSH6NM_000179.2(MSH6): c.3938_3939insTCAAAAGGGACATAGAAAA (p.Ala1320Serfs)insertionPathogenicrs763673818GRCh37Chr 2, 48033727: 48033728
105PMS2NM_000535.5(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh37Chr 7, 6026896: 6026896
106MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
107MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
108MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)single nucleotide variantPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
109MLH1NM_000249.3(MLH1): c.2213G> A (p.Gly738Glu)single nucleotide variantLikely pathogenicrs148317871GRCh37Chr 3, 37092086: 37092086
110MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)single nucleotide variantPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
111MLH1NM_000249.3(MLH1): c.454-1G> Asingle nucleotide variantPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
112MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
113MSH2NM_000251.2(MSH2): c.1077-69_1143del136deletionLikely pathogenicrs193922372GRCh37Chr 2, 47656812: 47656947
114MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
115MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)single nucleotide variantPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
116MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
117MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
118MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
119MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)single nucleotide variantPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
120NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
121MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
122MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenic
123MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
124MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
125MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
126MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
127MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
128MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
129MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)single nucleotide variantPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
130MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
131MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)single nucleotide variantPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
132MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)single nucleotide variantPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
133MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
134MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
135MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)single nucleotide variantPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
136MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
137MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)single nucleotide variantPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
138MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
139MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
140MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
141MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
142MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
143MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
144MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
145MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
146MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
147MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
148MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
149MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
150MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)single nucleotide variantPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
151MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
152MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
153MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
154MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
155MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
156MSH6NM_000179.2(MSH6): c.2057G> A (p.Gly686Asp)single nucleotide variantLikely pathogenicrs587779227GRCh37Chr 2, 48027179: 48027179
157MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)single nucleotide variantPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
158MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
159MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)single nucleotide variantPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
160MSH6NM_000179.2(MSH6): c.2117T> C (p.Phe706Ser)single nucleotide variantLikely pathogenicrs587779231GRCh37Chr 2, 48027239: 48027239
161MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)single nucleotide variantPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
162MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
163MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)single nucleotide variantPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
164MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)single nucleotide variantPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
165MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)single nucleotide variantPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
166MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
167MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
168MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)single nucleotide variantPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
169MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
170MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
171MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
172MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
173MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)single nucleotide variantPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
174MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
175MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
176MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)single nucleotide variantPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
177MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
178MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
179MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)single nucleotide variantPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
180MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh38Chr 2, 47798634: 47798634
181MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
182MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)single nucleotide variantPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
183MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
184MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
185MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
186MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
187MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)single nucleotide variantPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
188MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)single nucleotide variantPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
189MSH6NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
190MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)single nucleotide variantPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
191MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)single nucleotide variantPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
192MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
193MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
194MSH6NM_000179.2(MSH6): c.3172+1G> Tsingle nucleotide variantLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
195MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
196MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
197MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
198MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
199MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
200MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
201MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
202MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
203MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
204MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
205MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
206MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
207MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
208MSH6NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
209MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
210MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
211MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
212MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
213MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)single nucleotide variantPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
214MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)single nucleotide variantPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
215MSH6NM_000179.2(MSH6): c.3379_3438+5deldeletionPathogenicGRCh37Chr 2, 48030765: 48030829
216MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
217MSH6NM_000179.2(MSH6): c.3438+1G> Asingle nucleotide variantLikely pathogenicrs267608096GRCh37Chr 2, 48030825: 48030825
218MSH6NM_000179.2(MSH6)insertionPathogenic
219MSH6NM_000179.2(MSH6): c.3439-1G> Tsingle nucleotide variantLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
220MSH6NM_000179.2(MSH6): c.3439-2A> Gsingle nucleotide variantLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
221MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)single nucleotide variantPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
222MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
223MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
224MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
225MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
226MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
227MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
228NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
229MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
230MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
231MSH6NM_000179.2(MSH6): c.3646_3646+3deldeletionLikely pathogenicrs267608106GRCh37Chr 2, 48032846: 48032849
232MSH6NM_000179.2(MSH6): c.3647-1G> Asingle nucleotide variantPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
233MSH6NM_000179.2(MSH6): c.3647-2A> Csingle nucleotide variantPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
234MSH6NM_000179.2(MSH6): c.3647-6_3647-1deldeletionLikely pathogenicrs267608112GRCh37Chr 2, 48033337: 48033342
235MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
236MSH6NM_000179.2(MSH6): c.3724_3726delCGT (p.Arg1242del)deletionLikely pathogenicrs63749942GRCh37Chr 2, 48033420: 48033422
237MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
238MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
239MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
240MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)single nucleotide variantPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
241MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)single nucleotide variantPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
242MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
243MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
244MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
245MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
246MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)single nucleotide variantPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
247MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
248MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
249MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
250MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
251MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
252MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
253MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
254MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
255MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
256MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
257MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
258MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
259MSH6NM_025133.4(FBXO11): c.*1481_*1484dupTGACduplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
260MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
261MSH6NM_000179.2(MSH6): c.4001+2T> Csingle nucleotide variantPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
262MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)single nucleotide variantPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
263MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
264MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
265MSH6NM_000179.2(MSH6): c.457+2T> Asingle nucleotide variantPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
266MSH6NM_000179.2(MSH6): c.458-1G> Asingle nucleotide variantLikely pathogenicrs267608035GRCh37Chr 2, 48023032: 48023032
267MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenic
268MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
269MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
270MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
271MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
272MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
273MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)single nucleotide variantPathogenicrs587779315GRCh38Chr 2, 47798635: 47798635
274MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
275MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)single nucleotide variantPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
276MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
277MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
278MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
279MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
280MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)single nucleotide variantPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
281MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)single nucleotide variantPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
282MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
283MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)single nucleotide variantPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
284MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
285MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)single nucleotide variantPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
286MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
287MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
288MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
289MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
290MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
291MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
292MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
293NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
294NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
295MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenic
296MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
297MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
298MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
299MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
300MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
301MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
302MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
303MLH1NM_000249.3(MLH1): c.1038+1G> Csingle nucleotide variantLikely pathogenicrs267607816GRCh37Chr 3, 37061955: 37061955
304MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
305MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
306MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
307MLH1NM_000249.3(MLH1): c.1039-1G> Asingle nucleotide variantPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
308MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
309MLH1NM_000249.3(MLH1): c.1039-2A> Gsingle nucleotide variantLikely pathogenicrs267607815GRCh37Chr 3, 37067126: 37067126
310MLH1NM_000249.3(MLH1): c.1039-2A> Tsingle nucleotide variantLikely pathogenicrs267607815GRCh37Chr 3, 37067126: 37067126
311MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
312MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
313MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenic
314MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenic
315MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
316MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
317MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
318MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
319MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
320MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
321MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
322MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)single nucleotide variantPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
323MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh38Chr 3, 37025699: 37025699
324MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
325MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)single nucleotide variantPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
326MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
327MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)single nucleotide variantPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
328MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
329MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)single nucleotide variantPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
330MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
331MLH1NM_000249.3(MLH1): c.1153C> T (p.Arg385Cys)single nucleotide variantLikely pathogenicrs63750760GRCh37Chr 3, 37067242: 37067242
332MLH1NM_000249.3(MLH1): c.116+1G> Asingle nucleotide variantLikely pathogenicrs267607709GRCh37Chr 3, 37035155: 37035155
333MLH1NM_000249.3(MLH1): c.116+5G> Csingle nucleotide variantPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
334MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
335MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)single nucleotide variantLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
336MLH1NM_000249.3(MLH1): c.116G> T (p.Cys39Phe)single nucleotide variantLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
337MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
338MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
339MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenic
340MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenic
341MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenic
342MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)single nucleotide variantPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
343MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
344MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
345MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
346MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
347MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
348MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
349MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
350MLH1NM_000249.3(MLH1): c.121G> C (p.Asp41His)single nucleotide variantLikely pathogenicrs267607713GRCh37Chr 3, 37038114: 37038114
351MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)single nucleotide variantPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
352MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)single nucleotide variantPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
353MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
354MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
355MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
356MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
357MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
358MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
359MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
360MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
361MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
362MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
363MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
364MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
365MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
366MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
367MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
368MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
369MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
370MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
371MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
372MLH1NM_000249.3(MLH1): c.1409+1G> Asingle nucleotide variantLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
373MLH1NM_000249.3(MLH1): c.1409+1G> Csingle nucleotide variantPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
374MLH1NM_000249.3(MLH1): c.1409+2T> Gsingle nucleotide variantLikely pathogenicrs587778911GRCh37Chr 3, 37067500: 37067500
375MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
376MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenic
377MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenic
378MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
379MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
380MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
381MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
382MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
383MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
384MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
385MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)single nucleotide variantPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
386MLH1NM_000249.3(MLH1): c.143A> C (p.Gln48Pro)single nucleotide variantLikely pathogenicrs587778914GRCh37Chr 3, 37038136: 37038136
387MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
388MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)single nucleotide variantPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
389MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)single nucleotide variantPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
390MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
391MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
392MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)single nucleotide variantPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
393MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
394MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
395MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
396MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
397MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
398MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
399MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
400MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)single nucleotide variantPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
401MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
402MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
403MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)single nucleotide variantPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
404MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
405MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
406MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
407MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
408MLH1NM_000249.3(MLH1): c.1558+1G> Tsingle nucleotide variantPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
409MLH1NM_000249.3(MLH1): c.1558+2T> Gsingle nucleotide variantLikely pathogenicrs267607831GRCh37Chr 3, 37070425: 37070425
410MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
411MLH1NM_000249.3(MLH1): c.1559-1G> Asingle nucleotide variantLikely pathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
412MLH1NM_000249.3(MLH1): c.1559-1G> Csingle nucleotide variantLikely pathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
413MLH1NM_000249.3(MLH1): c.1559-1G> Tsingle nucleotide variantPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
414MLH1NM_000249.3(MLH1): c.1559-2A> Csingle nucleotide variantLikely pathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
415MLH1NM_000249.3(MLH1): c.1559-2A> Gsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
416MLH1NM_000249.3(MLH1): c.1559-2A> Tsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
417MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
418MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenic
419MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenic
420MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
421MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
422MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
423MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
424MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
425MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)single nucleotide variantPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
426MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
427MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
428MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
429MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)single nucleotide variantPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
430MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)single nucleotide variantPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
431MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)single nucleotide variantPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
432MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
433MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
434MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
435MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
436MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
437MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
438MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)single nucleotide variantPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
439MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)single nucleotide variantPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
440MLH1NM_000249.3(MLH1): c.1649T> C (p.Leu550Pro)single nucleotide variantLikely pathogenicrs63750193GRCh37Chr 3, 37081767: 37081767
441MLH1NM_000249.3(MLH1): c.1664T> C (p.Leu555Pro)single nucleotide variantLikely pathogenicrs587778937GRCh37Chr 3, 37081782: 37081782
442MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
443MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
444MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)single nucleotide variantPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
445MLH1NM_000249.3(MLH1): c.1668-1G> Asingle nucleotide variantLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
446MLH1NM_000249.3(MLH1): c.1668-1G> Tsingle nucleotide variantLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
447MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenic
448MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenic
449MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
450MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
451MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
452MLH1NM_000249.3(MLH1): c.1676T> G (p.Leu559Arg)single nucleotide variantLikely pathogenicrs63750059GRCh37Chr 3, 37083767: 37083767
453MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)single nucleotide variantPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
454MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)single nucleotide variantPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
455MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
456MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
457MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
458MLH1NM_000249.3(MLH1): c.1721T> C (p.Leu574Pro)single nucleotide variantLikely pathogenicrs63751608GRCh37Chr 3, 37083812: 37083812
459MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
460MLH1NM_000249.3(MLH1): c.1731+1G> Asingle nucleotide variantPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
461MLH1NM_000249.3(MLH1): c.1731+1G> Csingle nucleotide variantLikely pathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
462MLH1NM_000249.3(MLH1): c.1731+1G> Tsingle nucleotide variantLikely pathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
463MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
464MLH1NM_000249.3(MLH1): c.1731+2T> Gsingle nucleotide variantLikely pathogenicrs267607856GRCh37Chr 3, 37083824: 37083824
465MLH1NM_000249.3(MLH1): c.1731+3A> Tsingle nucleotide variantLikely pathogenicrs267607851GRCh37Chr 3, 37083825: 37083825
466MLH1NM_000249.3(MLH1): c.1731+5G> Asingle nucleotide variantPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
467MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
468MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)single nucleotide variantPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
469MLH1NM_000249.3(MLH1): c.1732-1G> Asingle nucleotide variantPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
470MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
471MLH1NM_000249.3(MLH1): c.1732-2A> Gsingle nucleotide variantLikely pathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
472MLH1NM_000249.3(MLH1): c.1732-2A> Tsingle nucleotide variantPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
473MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
474MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenic
475MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenic
476MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
477MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
478MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
479MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
480MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
481MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
482MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
483MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
484MLH1NM_000249.3(MLH1): c.1766C> A (p.Ala589Asp)single nucleotide variantLikely pathogenicrs63750016GRCh37Chr 3, 37089044: 37089044
485MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
486MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
487MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
488MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
489MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)single nucleotide variantPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
490MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
491MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)single nucleotide variantPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
492MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
493MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
494MLH1NM_000249.3(MLH1): c.1823C> A (p.Ala608Asp)single nucleotide variantLikely pathogenicrs267607864GRCh37Chr 3, 37089101: 37089101
495MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
496MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
497MLH1NM_000249.3(MLH1): c.1835_1837delTTG (p.Val612del)deletionLikely pathogenicrs63750486GRCh37Chr 3, 37089113: 37089115
498MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
499MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)single nucleotide variantPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
500MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
501MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
502MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
503MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)single nucleotide variantPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
504MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
505MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
506MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
507MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
508MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
509MLH1NM_000249.3(MLH1): c.1896+1G> Asingle nucleotide variantLikely pathogenicrs267607867GRCh37Chr 3, 37089175: 37089175
510MLH1NM_000249.3(MLH1): c.1896+1G> Tsingle nucleotide variantLikely pathogenicrs267607867GRCh37Chr 3, 37089175: 37089175
511MLH1NM_000249.3(MLH1): c.1896+1delGdeletionLikely pathogenicrs267607868GRCh37Chr 3, 37089175: 37089175
512MLH1NM_000249.3(MLH1): c.1896+2T> Csingle nucleotide variantLikely pathogenicrs267607869GRCh37Chr 3, 37089176: 37089176
513MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)single nucleotide variantPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
514MLH1NM_000249.3(MLH1): c.1897-2A> Gsingle nucleotide variantLikely pathogenicrs267607871GRCh37Chr 3, 37090006: 37090006
515MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenic
516MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)single nucleotide variantPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
517MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
518MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
519MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh37Chr 3, 37090015: 37090015
520MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
521MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
522MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
523MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
524MLH1NM_000249.3(MLH1): c.191A> G (p.Asn64Ser)single nucleotide variantLikely pathogenicrs63750952GRCh37Chr 3, 37038184: 37038184
525MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
526MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
527MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
528MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
529MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
530MLH1NM_000249.3(MLH1): c.194G> A (p.Gly65Asp)single nucleotide variantLikely pathogenicrs63751465GRCh37Chr 3, 37038187: 37038187
531MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
532MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
533MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)single nucleotide variantPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
534MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
535MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)single nucleotide variantPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
536MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
537MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
538MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
539MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
540MLH1NM_000249.3(MLH1): c.1984A> C (p.Thr662Pro)single nucleotide variantLikely pathogenicrs587778964GRCh37Chr 3, 37090095: 37090095
541MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
542MLH1NM_000249.3(MLH1): c.1988A> C (p.Glu663Ala)single nucleotide variantLikely pathogenicrs63751682GRCh37Chr 3, 37090099: 37090099
543MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
544MLH1NM_000249.3(MLH1): c.1989+1G> Asingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
545MLH1NM_000249.3(MLH1): c.1989+1G> Csingle nucleotide variantLikely pathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
546MLH1NM_000249.3(MLH1): c.1989+1G> Tsingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
547MLH1NM_000249.3(MLH1): c.1989G> A (p.Glu663=)single nucleotide variantLikely pathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
548MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)single nucleotide variantPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
549MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
550MLH1NM_000249.3(MLH1): c.1990-16_1990-2deldeletionLikely pathogenicrs267607881GRCh37Chr 3, 37090379: 37090393
551MLH1NM_000249.3(MLH1): c.1990-1G> Asingle nucleotide variantPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
552MLH1NM_000249.3(MLH1): c.1990-1G> Tsingle nucleotide variantLikely pathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
553MLH1NM_000249.3(MLH1): c.1990-2A> Gsingle nucleotide variantPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
554MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
555MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
556MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
557MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
558MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
559MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
560MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
561MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)single nucleotide variantPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
562MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
563MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)single nucleotide variantPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
564MLH1NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg)single nucleotide variantLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
565MLH1NM_000249.3(MLH1): c.203T> A (p.Ile68Asn)single nucleotide variantLikely pathogenicrs63750281GRCh37Chr 3, 37038196: 37038196
566MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)single nucleotide variantPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
567MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)single nucleotide variantPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
568MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
569MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
570MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
571MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
572MLH1NM_000249.3(MLH1): c.207+1G> Asingle nucleotide variantLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
573MLH1NM_000249.3(MLH1): c.207+1G> Tsingle nucleotide variantLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
574MLH1NM_000249.3(MLH1): c.207+1_207+2deldeletionLikely pathogenicrs267607719GRCh37Chr 3, 37038201: 37038202
575MLH1NM_000249.3(MLH1): c.207+2T> Csingle nucleotide variantLikely pathogenicrs267607722GRCh37Chr 3, 37038202: 37038202
576MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
577MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenic
578MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
579MLH1NM_000249.3(MLH1): c.208-1G> Asingle nucleotide variantPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
580MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
581MLH1NM_000249.3(MLH1): c.208-2A> Gsingle nucleotide variantPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
582MLH1NM_000249.3(MLH1): c.208-3C> Gsingle nucleotide variantLikely pathogenicrs267607720GRCh37Chr 3, 37042443: 37042443
583MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenic
584MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenic
585MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenic
586MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenic
587MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)single nucleotide variantPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
588MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
589MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)single nucleotide variantPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
590MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
591MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)single nucleotide variantPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
592MLH1NM_000249.3(MLH1): c.2103+1G> Asingle nucleotide variantPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
593MLH1NM_000249.3(MLH1): c.2103+1G> Csingle nucleotide variantLikely pathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
594MLH1NM_000249.3(MLH1): c.2103+1G> Tsingle nucleotide variantLikely pathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
595MLH1NM_000249.3(MLH1): c.2103G> A (p.Gln701=)single nucleotide variantLikely pathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
596MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)single nucleotide variantPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
597MLH1NM_000249.3(MLH1): c.2104-1G> Tsingle nucleotide variantLikely pathogenicrs587778978GRCh37Chr 3, 37091976: 37091976
598MLH1NM_000249.3(MLH1): c.2104-2A> Gsingle nucleotide variantLikely pathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
599MLH1NM_000249.3(MLH1): c.2104-2A> Tsingle nucleotide variantPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
600MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
601MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
602MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
603MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
604MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
605MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
606MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
607MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
608MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
609MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
610MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
611MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
612MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
613MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
614MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
615MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)single nucleotide variantPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
616MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
617MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
618MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)single nucleotide variantPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
619MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
620MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
621MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
622MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
623MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
624MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
625MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)single nucleotide variantPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
626MLH1NM_000249.3(MLH1): c.2265G> C (p.Arg755Ser)single nucleotide variantLikely pathogenicrs267607895GRCh37Chr 3, 37092138: 37092138
627MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
628MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
629MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)single nucleotide variantPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
630MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
631MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
632MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
633MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
634MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)single nucleotide variantPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
635MLH1NM_000249.3(MLH1): c.244A> G (p.Thr82Ala)single nucleotide variantLikely pathogenicrs587778998GRCh37Chr 3, 37042482: 37042482
636MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
637MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)single nucleotide variantPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
638MLH1NM_000249.3(MLH1): c.250A> G (p.Lys84Glu)single nucleotide variantLikely pathogenicrs63750641GRCh37Chr 3, 37042488: 37042488
639MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)single nucleotide variantPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
640MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
641MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)single nucleotide variantPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
642MLH1NM_000249.3(MLH1): c.293_304delGCTTTCGAGGTG (p.Gly98_Gly101del)deletionLikely pathogenicrs63751691GRCh37Chr 3, 37042531: 37042542
643MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
644MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
645MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
646MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)single nucleotide variantPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
647MLH1NM_000249.3(MLH1): c.306G> T (p.Glu102Asp)single nucleotide variantLikely pathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
648MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
649MLH1NM_000249.3(MLH1): c.307-1G> Csingle nucleotide variantLikely pathogenicrs267607736GRCh37Chr 3, 37045891: 37045891
650MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
651MLH1NM_000249.3(MLH1): c.307-2A> Csingle nucleotide variantLikely pathogenicrs267607732GRCh37Chr 3, 37045890: 37045890
652MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
653MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
654MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
655MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenic
656MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
657MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)single nucleotide variantPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
658MLH1NM_000249.3(MLH1): c.332C> T (p.Ala111Val)single nucleotide variantLikely pathogenicrs63750539GRCh37Chr 3, 37045917: 37045917
659MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
660MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
661MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
662MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
663MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
664MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
665MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)single nucleotide variantPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
666MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
667MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
668MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
669MLH1NM_000249.3(MLH1): c.380+1G> Asingle nucleotide variantLikely pathogenicrs267607745GRCh37Chr 3, 37045966: 37045966
670MLH1NM_000249.3(MLH1): c.380+2T> Asingle nucleotide variantPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
671MLH1NM_000249.3(MLH1): c.380+2T> Csingle nucleotide variantLikely pathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
672MLH1NM_000249.3(MLH1): c.380G> A (p.Arg127Lys)single nucleotide variantLikely pathogenicrs63751595GRCh37Chr 3, 37045965: 37045965
673MLH1NM_000249.3(MLH1): c.381-2A> Gsingle nucleotide variantLikely pathogenicrs267607743GRCh37Chr 3, 37048480: 37048480
674MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
675MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenic
676MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
677MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
678MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
679MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
680MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
681MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
682MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
683MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)single nucleotide variantPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
684MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)single nucleotide variantPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
685MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
686MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
687MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
688MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
689MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
690MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)single nucleotide variantPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
691MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
692MLH1NM_000249.3(MLH1): c.453+1G> Tsingle nucleotide variantLikely pathogenicrs267607750GRCh37Chr 3, 37048555: 37048555
693MLH1NM_000249.3(MLH1): c.453+2T> Csingle nucleotide variantPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
694MLH1NM_000249.3(MLH1): c.453G> A (p.Thr151=)single nucleotide variantLikely pathogenicrs369521379GRCh37Chr 3, 37048554: 37048554
695MLH1NM_000249.3(MLH1): c.454-1G> Tsingle nucleotide variantLikely pathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
696MLH1NM_000249.3(MLH1): c.454-2A> Gsingle nucleotide variantLikely pathogenicrs267607753GRCh37Chr 3, 37050303: 37050303
697MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
698MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
699MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
700MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
701MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenic
702MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)single nucleotide variantPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
703MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
704MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
705MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)single nucleotide variantPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
706MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
707MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
708MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
709MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
710MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
711MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
712MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
713MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
714MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)single nucleotide variantPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
715MLH1NM_000249.3(MLH1): c.545+1G> Asingle nucleotide variantLikely pathogenicrs267607765GRCh37Chr 3, 37050397: 37050397
716MLH1NM_000249.3(MLH1): c.545+3A> Gsingle nucleotide variantPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
717MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)single nucleotide variantPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
718MLH1NM_000249.3(MLH1): c.546-1G> Asingle nucleotide variantLikely pathogenicrs587779022GRCh37Chr 3, 37053310: 37053310
719MLH1NM_000249.3(MLH1): c.546-2A> Csingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
720MLH1NM_000249.3(MLH1): c.546-2A> Gsingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
721MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
722MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenic
723MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenic
724MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenic
725MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)single nucleotide variantPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
726MLH1NM_000249.3(MLH1): c.574_588+2deldeletionLikely pathogenicrs587779023GRCh37Chr 3, 37053339: 37053355
727MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)single nucleotide variantPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
728MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
729MLH1NM_000249.3(MLH1): c.588+1G> Tsingle nucleotide variantPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
730MLH1NM_000249.3(MLH1): c.588+1delGdeletionLikely pathogenicrs267607773GRCh37Chr 3, 37053354: 37053354
731MLH1NM_000249.3(MLH1): c.588+2T> Asingle nucleotide variantLikely pathogenicrs587779024GRCh37Chr 3, 37053355: 37053355
732MLH1NM_000249.3(MLH1): c.588+5G> Asingle nucleotide variantPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
733MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
734MLH1NM_000249.3(MLH1): c.589-1G> Tsingle nucleotide variantLikely pathogenicrs587779027GRCh37Chr 3, 37053501: 37053501
735MLH1NM_000249.3(MLH1): c.589-2A> Gsingle nucleotide variantPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
736MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
737MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)single nucleotide variantPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
738MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
739MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)single nucleotide variantPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
740MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
741MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
742MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
743MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
744MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
745MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
746MLH1NM_000249.3(MLH1): c.677+1G> Asingle nucleotide variantLikely pathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
747MLH1NM_000249.3(MLH1): c.677+1G> Tsingle nucleotide variantPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
748MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
749MLH1NM_000249.3(MLH1): c.677+3A> Gsingle nucleotide variantPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
750MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)single nucleotide variantPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
751MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)single nucleotide variantLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
752MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
753MLH1NM_000249.3(MLH1): c.677_677+1insTinsertionLikely pathogenicrs587779033GRCh37Chr 3, 37053590: 37053591
754MLH1NM_000249.3(MLH1): c.678-1G> Csingle nucleotide variantPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
755MLH1NM_000249.3(MLH1): c.678-1G> Tsingle nucleotide variantLikely pathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
756MLH1NM_000249.3(MLH1): c.678-2A> Gsingle nucleotide variantLikely pathogenicrs587779035GRCh37Chr 3, 37055921: 37055921
757MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
758MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
759MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenic
760MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenic
761MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)single nucleotide variantPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
762MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
763MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
764MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
765MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
766MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
767MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)single nucleotide variantPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
768MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
769MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)single nucleotide variantPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
770MLH1NM_000249.3(MLH1): c.73A> T (p.Ile25Phe)single nucleotide variantLikely pathogenicrs63749838GRCh37Chr 3, 37035111: 37035111
771MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
772MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
773MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
774MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
775MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)single nucleotide variantPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
776MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
777MLH1NM_000249.3(MLH1): c.790+1G> Asingle nucleotide variantPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
778MLH1NM_000249.3(MLH1): c.790+1G> Csingle nucleotide variantLikely pathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
779MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
780MLH1NM_000249.3(MLH1): c.790+2T> Asingle nucleotide variantLikely pathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
781MLH1NM_000249.3(MLH1): c.790+2T> Csingle nucleotide variantPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
782MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
783MLH1NM_000249.3(MLH1): c.791-1G> Csingle nucleotide variantPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
784MLH1NM_000249.3(MLH1): c.791-1G> Tsingle nucleotide variantLikely pathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
785MLH1NM_000249.3(MLH1): c.791-2A> Gsingle nucleotide variantLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
786MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
787MLH1NM_000249.3(MLH1): c.791-5T> Gsingle nucleotide variantPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
788MLH1NM_000249.3(MLH1): c.791-7T> Asingle nucleotide variantLikely pathogenicrs587779042GRCh37Chr 3, 37058990: 37058990
789MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenic
790MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenic
791MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
792MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)single nucleotide variantLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
793MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
794MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
795MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
796MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)single nucleotide variantPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
797MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)single nucleotide variantPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
798MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)single nucleotide variantPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
799MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
800MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)single nucleotide variantPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
801MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
802MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
803MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
804MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
805MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
806MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
807MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)single nucleotide variantPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
808MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)single nucleotide variantPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
809MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
810MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
811MLH1NM_000249.3(MLH1): c.884+2T> Csingle nucleotide variantLikely pathogenicrs267607806GRCh37Chr 3, 37059092: 37059092
812MLH1NM_000249.3(MLH1): c.884+4A> Gsingle nucleotide variantPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
813MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
814MLH1NM_000249.3(MLH1): c.884G> C (p.Ser295Thr)single nucleotide variantLikely pathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
815MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
816MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
817MLH1NM_000249.3(MLH1): c.885-2A> Gsingle nucleotide variantLikely pathogenicrs267607805GRCh37Chr 3, 37061799: 37061799
818MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
819MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
820MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
821MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenic
822MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenic
823MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)single nucleotide variantPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
824MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
825MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
826MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)single nucleotide variantPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
827MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)single nucleotide variantPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
828MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
829MLH1NM_000249.3(MLH1): c.911A> T (p.Asp304Val)single nucleotide variantLikely pathogenicrs63750993GRCh37Chr 3, 37061827: 37061827
830MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
831MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
832MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
833MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
834MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
835MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
836MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)single nucleotide variantPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
837MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
838MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
839MLH1NM_000249.3(MLH1): c.453+625_545+921delinsTGindelPathogenicGRCh37Chr 3, 37049179: 37051317
840MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenic
841MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
842MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
843MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
844MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
845MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
846MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
847MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
848MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
849MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
850MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
851MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
852MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenic
853MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
854MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenic
855MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenic
856MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
857MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenic
858MSH2NM_000251.2(MSH2): c.-68-10_-68-9deldeletionLikely pathogenicrs587779182GRCh37Chr 2, 47630253: 47630254
859MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
860MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
861MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)single nucleotide variantPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
862MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
863MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
864MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)single nucleotide variantPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
865MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
866MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
867MSH2NM_000251.2(MSH2): c.1022T> C (p.Leu341Pro)single nucleotide variantLikely pathogenicrs63751147GRCh37Chr 2, 47643514: 47643514
868MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
869MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
870MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
871MSH2NM_000251.2(MSH2): c.1046C> G (p.Pro349Arg)single nucleotide variantLikely pathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
872MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
873MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
874MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)single nucleotide variantPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
875MSH2NM_000251.2(MSH2): c.1076+1G> Asingle nucleotide variantPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
876MSH2NM_000251.2(MSH2): c.1076+1G> Tsingle nucleotide variantLikely pathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
877MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
878MSH2NM_000251.2(MSH2): c.1077-1G> Csingle nucleotide variantLikely pathogenicrs267607944GRCh37Chr 2, 47656880: 47656880
879MSH2NM_000251.2(MSH2): c.1077-1G> Tsingle nucleotide variantLikely pathogenicrs267607944GRCh37Chr 2, 47656880: 47656880
880MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
881MSH2NM_000251.2(MSH2): c.1077-2A> Csingle nucleotide variantLikely pathogenicrs267607943GRCh37Chr 2, 47656879: 47656879
882MSH2NM_000251.2(MSH2): c.1077-2A> Gsingle nucleotide variantLikely pathogenicrs267607943GRCh37Chr 2, 47656879: 47656879
883MSH2NM_000251.2(MSH2): c.1077-2A> Tsingle nucleotide variantLikely pathogenicrs267607943GRCh37Chr 2, 47656879: 47656879
884MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
885MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenic
886MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenic
887MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenic
888MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenic
889MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenic
890MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)single nucleotide variantPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
891MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
892MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
893MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
894MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
895MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
896MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
897MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)single nucleotide variantPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
898MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
899MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
900MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
901MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
902MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)single nucleotide variantPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
903MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
904MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)single nucleotide variantPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
905MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
906MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
907MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
908MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
909MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
910MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)single nucleotide variantPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
911MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
912MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)single nucleotide variantPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
913MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
914MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
915MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
916MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
917MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
918MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
919MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
920MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)single nucleotide variantPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
921MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)single nucleotide variantPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
922MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
923MSH2NM_000251.2(MSH2): c.1276+1G> Asingle nucleotide variantPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
924MSH2NM_000251.2(MSH2): c.1276+1G> Csingle nucleotide variantLikely pathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
925MSH2NM_000251.2(MSH2): c.1276+1G> Tsingle nucleotide variantLikely pathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
926MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
927MSH2NM_000251.2(MSH2): c.1276+2T> Asingle nucleotide variantLikely pathogenicrs267607953GRCh37Chr 2, 47657082: 47657082
928MSH2NM_000251.2(MSH2): c.1277-1G> Asingle nucleotide variantLikely pathogenicrs267607948GRCh37Chr 2, 47672686: 47672686
929MSH2NM_000251.2(MSH2): c.1277-1G> Csingle nucleotide variantLikely pathogenicrs267607948GRCh37Chr 2, 47672686: 47672686
930MSH2NM_000251.2(MSH2): c.1277-2A> Csingle nucleotide variantLikely pathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
931MSH2NM_000251.2(MSH2): c.1277-2A> Gsingle nucleotide variantPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
932MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
933MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
934MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
935MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenic
936MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenic
937MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenic
938MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenic
939MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)single nucleotide variantPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
940MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
941MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)single nucleotide variantPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
942MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)single nucleotide variantPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
943MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)single nucleotide variantPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
944MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
945MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
946MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)single nucleotide variantPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
947MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
948MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
949MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)single nucleotide variantPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
950MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
951MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
952MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)single nucleotide variantPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
953MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)single nucleotide variantPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
954MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
955MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)single nucleotide variantPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
956MSH2NM_000251.2(MSH2): c.1386+1G> Asingle nucleotide variantLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
957MSH2NM_000251.2(MSH2): c.1386+1G> Csingle nucleotide variantLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
958MSH2NM_000251.2(MSH2): c.1386+1G> Tsingle nucleotide variantLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
959MSH2NM_000251.2(MSH2): c.1387-1G> Tsingle nucleotide variantLikely pathogenicrs267607956GRCh37Chr 2, 47690169: 47690169
960MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
961MSH2NM_000251.2(MSH2): c.1387-9T> Asingle nucleotide variantLikely pathogenicrs587779087GRCh37Chr 2, 47690161: 47690161
962MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
963MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenic
964MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenic
965MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenic
966MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenic
967MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
968MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
969MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
970MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)single nucleotide variantPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
971MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)single nucleotide variantPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
972MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
973MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)single nucleotide variantPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
974MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
975MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
976MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
977MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)single nucleotide variantPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
978MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
979MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
980MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
981MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
982MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
983MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
984MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
985MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)single nucleotide variantPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
986MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
987MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
988MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
989MSH2NM_000251.2(MSH2): c.1510G> C (p.Gly504Arg)single nucleotide variantLikely pathogenicrs63751600GRCh37Chr 2, 47690293: 47690293
990MSH2NM_000251.2(MSH2): c.1511-2A> Gsingle nucleotide variantPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
991MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenic
992MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
993MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
994MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)single nucleotide variantPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
995MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
996MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)single nucleotide variantPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
997MSH2NM_000251.2(MSH2): c.1571G> T (p.Arg524Leu)single nucleotide variantLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
998MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
999MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
1000MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
1001MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
1002MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
1003MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
1004MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
1005MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1006MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1007MSH2NM_000251.2(MSH2): c.1661+1G> Asingle nucleotide variantLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
1008MSH2NM_000251.2(MSH2): c.1661+1G> Tsingle nucleotide variantLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
1009MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)single nucleotide variantPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
1010MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
1011MSH2NM_000251.2(MSH2): c.1662-2A> Gsingle nucleotide variantLikely pathogenicrs267607971GRCh37Chr 2, 47698102: 47698102
1012MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
1013MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
1014MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenic
1015MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenic
1016MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
1017MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
1018MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
1019MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)single nucleotide variantPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
1020MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
1021MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
1022MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
1023MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
1024MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
1025MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
1026MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)single nucleotide variantPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
1027MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
1028MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
1029MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
1030MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
1031MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
1032MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)single nucleotide variantPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
1033MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
1034MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
1035MSH2NM_000251.2(MSH2): c.1759+1G> Asingle nucleotide variantLikely pathogenicrs587779108GRCh37Chr 2, 47698202: 47698202
1036MSH2NM_000251.2(MSH2): c.1759+2T> Asingle nucleotide variantPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
1037MSH2NM_000251.2(MSH2): c.1759+2T> Csingle nucleotide variantLikely pathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
1038MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
1039MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)single nucleotide variantPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
1040MSH2NM_000251.2(MSH2): c.1760-1G> Asingle nucleotide variantLikely pathogenicrs587779110GRCh37Chr 2, 47702163: 47702163
1041MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
1042MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
1043MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenic
1044MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenic
1045MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
1046MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)single nucleotide variantPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
1047MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
1048MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)single nucleotide variantPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
1049MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
1050MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
1051MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
1052MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
1053MSH2NM_000251.2(MSH2): c.1808A> G (p.Asp603Gly)single nucleotide variantLikely pathogenicrs267607985GRCh37Chr 2, 47702212: 47702212
1054MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
1055MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)single nucleotide variantPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
1056MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
1057MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)single nucleotide variantPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
1058MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
1059MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)single nucleotide variantPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
1060MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
1061MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
1062MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
1063MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
1064MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
1065MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)single nucleotide variantPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
1066MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
1067MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
1068MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
1069MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
1070MSH2NM_000251.2(MSH2): c.1955C> A (p.Pro652His)single nucleotide variantLikely pathogenicrs267607983GRCh37Chr 2, 47702359: 47702359
1071MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
1072MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)single nucleotide variantPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
1073MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1074MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1075MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1076MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1077MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1078MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1079MSH2NM_000251.2(MSH2): c.2005+1G> Asingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1080MSH2NM_000251.2(MSH2): c.2005+1G> Csingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1081MSH2NM_000251.2(MSH2): c.2005+1G> Tsingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1082MSH2NM_000251.2(MSH2): c.2005+2T> Csingle nucleotide variantPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1083MSH2NM_000251.2(MSH2): c.2005+2_2005+12deldeletionLikely pathogenicrs587779123GRCh37Chr 2, 47702411: 47702421
1084MSH2NM_000251.2(MSH2): c.2005+2deldeletionLikely pathogenicrs587779124GRCh37Chr 2, 47702411: 47702411
1085MSH2NM_000251.2(MSH2): c.2005G> C (p.Gly669Arg)single nucleotide variantLikely pathogenicrs63751668GRCh37Chr 2, 47702409: 47702409
1086MSH2NM_000251.2(MSH2): c.2006-1G> Csingle nucleotide variantLikely pathogenicrs267607988GRCh37Chr 2, 47703505: 47703505
1087MSH2NM_000251.2(MSH2): c.2006-2A> Gsingle nucleotide variantLikely pathogenicrs267607991GRCh37Chr 2, 47703504: 47703504
1088MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenic
1089MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)single nucleotide variantPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1090MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1091MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1092MSH2NM_000251.2(MSH2): c.2020G> C (p.Gly674Arg)single nucleotide variantLikely pathogenicrs63750234GRCh37Chr 2, 47703520: 47703520
1093MSH2NM_000251.2(MSH2): c.2021G> A (p.Gly674Asp)single nucleotide variantLikely pathogenicrs267607996GRCh37Chr 2, 47703521: 47703521
1094MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1095MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1096MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1097MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)single nucleotide variantPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1098MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1099MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1100MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)single nucleotide variantPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1101MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1102MSH2NM_000251.2(MSH2): c.2074G> C (p.Gly692Arg)single nucleotide variantLikely pathogenicrs63750232GRCh37Chr 2, 47703574: 47703574
1103MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1104MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)single nucleotide variantPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1105MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)single nucleotide variantPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1106MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)single nucleotide variantPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1107MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)single nucleotide variantPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1108MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)single nucleotide variantPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1109MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1110MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1111MSH2NM_000251.2(MSH2): c.212-1G> Asingle nucleotide variantPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1112MSH2NM_000251.2(MSH2): c.212-2A> Gsingle nucleotide variantLikely pathogenicrs267607917GRCh37Chr 2, 47635538: 47635538
1113MSH2NM_000251.2(MSH2): c.212-478T> Gsingle nucleotide variantPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1114MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenic
1115MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenic
1116MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenic
1117MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenic
1118MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenic
1119MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenic
1120MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenic
1121MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1122MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1123MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1124MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)single nucleotide variantPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1125MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1126MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1127MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)single nucleotide variantPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1128MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1129MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1130MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1131MSH2NM_000251.2(MSH2): c.2210+1G> Asingle nucleotide variantLikely pathogenicrs267608002GRCh37Chr 2, 47703711: 47703711
1132MSH2NM_000251.2(MSH2): c.2210+1G> Csingle nucleotide variantLikely pathogenicrs267608002GRCh37Chr 2, 47703711: 47703711
1133MSH2NM_000251.2(MSH2): c.2211-1G> Tsingle nucleotide variantLikely pathogenicrs267607979GRCh37Chr 2, 47705410: 47705410
1134MSH2NM_000251.2(MSH2): c.2211-2A> Csingle nucleotide variantLikely pathogenicrs267608001GRCh37Chr 2, 47705409: 47705409
1135MSH2NM_000251.2(MSH2): c.2211-2A> Tsingle nucleotide variantLikely pathogenicrs267608001GRCh37Chr 2, 47705409: 47705409
1136MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenic
1137MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1138MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1139MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1140MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)single nucleotide variantPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1141MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1142MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1143MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1144MSH2NM_000251.2(MSH2): c.2245G> A (p.Glu749Lys)single nucleotide variantLikely pathogenicrs63751477GRCh37Chr 2, 47705445: 47705445
1145MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)single nucleotide variantPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1146MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1147MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)single nucleotide variantPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1148MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)single nucleotide variantPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1149MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1150MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)single nucleotide variantPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1151MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)single nucleotide variantPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1152MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1153MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1154MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1155MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1156MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)single nucleotide variantPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1157MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1158MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1159MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1160MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1161MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1162MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1163MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1164MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1165MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)single nucleotide variantPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1166MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1167MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)single nucleotide variantPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1168MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1169MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)single nucleotide variantPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1170MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)single nucleotide variantPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1171MSH2NM_000251.2(MSH2): c.2458+1G> Asingle nucleotide variantLikely pathogenicrs267608010GRCh37Chr 2, 47705659: 47705659
1172MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1173MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenic
1174MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1175MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1176MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1177MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1178MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1179MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1180MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1181MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1182MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1183MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)single nucleotide variantPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1184MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1185MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1186MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1187MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)single nucleotide variantPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1188MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1189MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)single nucleotide variantPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1190MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1191MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1192MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)single nucleotide variantPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1193MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1194MSH2NM_000251.2(MSH2): c.2634+1G> Asingle nucleotide variantLikely pathogenicrs267608019GRCh37Chr 2, 47708011: 47708011
1195MSH2NM_000251.2(MSH2): c.2634+1G> Tsingle nucleotide variantLikely pathogenicrs267608019GRCh37Chr 2, 47708011: 47708011
1196MSH2NM_000251.2(MSH2): c.2634+5G> Csingle nucleotide variantPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1197MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)single nucleotide variantPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1198MSH2NM_000251.2(MSH2): c.2634G> C (p.Glu878Asp)single nucleotide variantLikely pathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1199MSH2NM_000251.2(MSH2): c.2635-1G> Tsingle nucleotide variantLikely pathogenicrs267608020GRCh37Chr 2, 47709917: 47709917
1200MSH2NM_000251.2(MSH2): c.2635-5_2635-3invundetermined variantLikely pathogenicGRCh37Chr 2, 47709913: 47709915
1201MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh38Chr 2, 47482779: 47483221
1202MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1203MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1204MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1205MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1206MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)single nucleotide variantPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1207MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1208MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1209MSH2NM_000251.2(MSH2): c.277C> T (p.Leu93Phe)single nucleotide variantLikely pathogenicrs63751429GRCh37Chr 2, 47635605: 47635605
1210MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)single nucleotide variantPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1211MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1212MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)single nucleotide variantPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1213MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)single nucleotide variantPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1214MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1215MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1216MSH2NM_000251.2(MSH2): c.301_306delGAAGTT (p.Glu101_Val102del)deletionLikely pathogenicrs587779157GRCh37Chr 2, 47635629: 47635634
1217MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1218MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1219MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1220MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1221MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)single nucleotide variantPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1222MSH2NM_000251.2(MSH2): c.366+1G> Tsingle nucleotide variantLikely pathogenicrs267607924GRCh37Chr 2, 47635695: 47635695
1223MSH2NM_000251.2(MSH2): c.367-1G> Asingle nucleotide variantLikely pathogenicrs267607925GRCh37Chr 2, 47637232: 47637232
1224MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1225MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1226MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1227MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1228MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenic
1229MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenic
1230MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenic
1231MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenic
1232MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenic
1233MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenic
1234MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1235MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1236MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1237MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1238MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1239MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1240MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1241MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)single nucleotide variantPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1242MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1243MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1244MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1245MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)single nucleotide variantPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1246MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)single nucleotide variantPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1247MSH2NM_000251.2(MSH2): c.493T> G (p.Tyr165Asp)single nucleotide variantLikely pathogenicrs587779163GRCh37Chr 2, 47637359: 47637359
1248MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1249MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1250MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1251MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1252MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1253MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1254MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)single nucleotide variantPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1255MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1256MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)single nucleotide variantPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1257MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1258MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1259MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1260MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1261MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1262MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1263MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1264MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)single nucleotide variantPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1265MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)single nucleotide variantPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1266MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1267MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1268MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1269MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1270MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1271MSH2NM_000251.2(MSH2): c.645+1G> Asingle nucleotide variantPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1272MSH2NM_000251.2(MSH2): c.645+1G> Tsingle nucleotide variantLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1273MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1274MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1275MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1276MSH2NM_000251.2(MSH2): c.646-2A> Gsingle nucleotide variantLikely pathogenicrs587779169GRCh37Chr 2, 47639551: 47639551
1277MSH2NM_000251.2(MSH2): c.646-3T> Gsingle nucleotide variantPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1278MSH2NM_000251.2(MSH2): c.646-3_654deldeletionLikely pathogenicrs267607929GRCh37Chr 2, 47639550: 47639561
1279MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1280MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenic
1281MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenic
1282MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenic
1283MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenic
1284MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenic
1285MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1286MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1287MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1288MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)single nucleotide variantPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1289MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1290MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1291MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1292MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1293MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1294MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1295MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1296MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1297MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1298MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1299MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1300MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1301MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)single nucleotide variantPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1302MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1303MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1304MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1305MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1306MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1307MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1308MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1309MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1310MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1311MSH2NM_000251.2(MSH2): c.792+1G> Asingle nucleotide variantPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1312MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1313MSH2NM_000251.2(MSH2): c.792G> C (p.Gln264His)single nucleotide variantLikely pathogenicrs587779183GRCh37Chr 2, 47639699: 47639699
1314MSH2NM_000251.2(MSH2): c.793-2A> Csingle nucleotide variantLikely pathogenicrs267607933GRCh37Chr 2, 47641406: 47641406
1315MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1316MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenic
1317MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenic
1318MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenic
1319MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenic
1320MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1321MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1322MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1323MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1324MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1325MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1326MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1327MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1328MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1329MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)single nucleotide variantPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1330MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)single nucleotide variantPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1331MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1332MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)single nucleotide variantPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1333MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1334MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1335MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1336MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1337MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1338MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)single nucleotide variantPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1339MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)single nucleotide variantPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1340MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1341MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)single nucleotide variantPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1342MSH2NM_000251.2(MSH2): c.942+1G> Tsingle nucleotide variantLikely pathogenicrs587779193GRCh37Chr 2, 47641558: 47641558
1343MSH2NM_000251.2(MSH2): c.942+2T> Gsingle nucleotide variantLikely pathogenicrs587779195GRCh37Chr 2, 47641559: 47641559
1344MSH2NM_000251.2(MSH2): c.942+2deldeletionLikely pathogenicrs587779194GRCh37Chr 2, 47641559: 47641559
1345MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)single nucleotide variantPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1346MSH2NM_000251.2(MSH2): c.943-1G> Asingle nucleotide variantLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1347MSH2NM_000251.2(MSH2): c.943-1G> Csingle nucleotide variantLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1348MSH2NM_000251.2(MSH2): c.943-2A> Gsingle nucleotide variantLikely pathogenicrs587779198GRCh37Chr 2, 47643433: 47643433
1349MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1350MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenic
1351MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1352MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1353MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)single nucleotide variantPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1354MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh38Chr 2, 47416323: 47416324
1355MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1356MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenic
1357MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1358MSH2NM_000251.2(MSH2): c.989T> C (p.Leu330Pro)single nucleotide variantLikely pathogenicrs63750630GRCh37Chr 2, 47643481: 47643481
1359PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenic
1360PMS2NM_000535.5(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1361PMS2NM_000535.5(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1362PMS2NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh37Chr 7, 6029554: 6029554
1363PMS2NM_000535.5(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1364PMS2NM_000535.5(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1365PMS2NM_000535.5(PMS2): c.1144+2T> Asingle nucleotide variantLikely pathogenicrs267608158GRCh37Chr 7, 6029429: 6029429
1366PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenic
1367PMS2NM_000535.5(PMS2): c.1145-?_2174+?deldeletionPathogenic
1368PMS2NM_000535.5(PMS2): c.1145-?_2445+?deldeletionPathogenic
1369PMS2NM_000535.5(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1370PMS2NM_000535.5(PMS2): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1371PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1372PMS2NM_000535.5(PMS2): c.163+2T> Csingle nucleotide variantLikely pathogenicrs587779329GRCh37Chr 7, 6045521: 6045521
1373PMS2NM_000535.5(PMS2): c.164-2A> Gsingle nucleotide variantLikely pathogenicrs587779324GRCh37Chr 7, 6043691: 6043691
1374PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1375PMS2NM_000535.5(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1376PMS2NM_000535.5(PMS2): c.1738A> T (p.Lys580Ter)single nucleotide variantPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1377PMS2NM_000535.5(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1378PMS2NM_000535.5(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1379PMS2NM_000535.5(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1380PMS2NM_000535.5(PMS2): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1381PMS2NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1382PMS2NM_000535.5(PMS2): c.1939A> T (p.Lys647Ter)single nucleotide variantPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1383PMS2NM_000535.5(PMS2): c.2007-1G> Asingle nucleotide variantLikely pathogenicrs267608170GRCh37Chr 7, 6022623: 6022623
1384PMS2NM_000535.5(PMS2): c.2174+1G> Asingle nucleotide variantPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1385PMS2NM_000535.5(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1386PMS2NM_000535.5(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1387PMS2NM_000535.5(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1388PMS2NM_000535.5(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1389PMS2NM_000535.5(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1390PMS2NM_000535.5(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1391PMS2NM_000535.5(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1392PMS2NM_000535.5(PMS2): c.24-?_163+?deldeletionPathogenic
1393PMS2NM_000535.5(PMS2): c.251-2A> Gsingle nucleotide variantLikely pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
1394PMS2NM_000535.5(PMS2): c.354-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1395PMS2NM_000535.5(PMS2): c.354-?_803+?deldeletionPathogenic
1396PMS2NM_000535.5(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1397PMS2NM_000535.5(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh38Chr 7, 5999270: 5999270
1398PMS2NM_000535.5(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1399PMS2NM_000535.5(PMS2): c.697C> T (p.Gln233Ter)single nucleotide variantPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1400PMS2NM_000535.5(PMS2): c.703C> T (p.Gln235Ter)single nucleotide variantPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1401PMS2NM_000535.5(PMS2): c.705+1G> Tsingle nucleotide variantLikely pathogenicrs267608147GRCh37Chr 7, 6038738: 6038738
1402PMS2NM_000535.5(PMS2): c.706-?_803+?deldeletionPathogenic
1403PMS2NM_000535.5(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1404PMS2NM_000535.5(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1405PMS2NM_000535.5(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1406PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenic
1407PMS2NM_000535.5(PMS2): c.804-?_2006+?deldeletionPathogenic
1408PMS2NM_000535.5(PMS2): c.804-?_903+?deldeletionPathogenic
1409PMS2NM_000535.5(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1410PMS2NM_000535.5(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1411PMS2NM_000535.5(PMS2): c.903G> T (p.Lys301Asn)single nucleotide variantLikely pathogenicrs267608153GRCh37Chr 7, 6035165: 6035165
1412PMS2NM_000535.5(PMS2): c.904-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1413PMS2NM_000535.5(PMS2): c.904-?_1144+?deldeletionPathogenic
1414PMS2NM_000535.5(PMS2): c.904-?_988+?deldeletionPathogenic
1415PMS2NM_000535.5(PMS2): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1416PMS2NM_000535.5(PMS2): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1417PMS2NM_000535.5(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1418PMS2NM_000535.5(PMS2): c.989-2A> Gsingle nucleotide variantLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1419PMS2NM_000535.5(PMS2): c.989-?_(*160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1420PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1421PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1422PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1423PMS2NM_000535.5(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1424PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1425MSH6NM_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 36)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2MLH1, MSH2, TP53
210.1MLH1, MSH2, MSH6, PMS2
310.1MSH6, POLE, TP53
4
Show member pathways
10.1MSH6, POLE, TP53
510.1BRAF, KRAS, PIK3CA
610.1KRAS, PIK3CA, TP53
710.1BRAF, KRAS, TP53
810.1BRAF, KRAS, TP53
910.1BRAF, KRAS, TP53
10
Show member pathways
10.1BRCA1, BRCA2, MLH1, MLH3
11
Show member pathways
10.0BRCA1, BRCA2, MLH1, MLH3
12
Show member pathways
10.0BRCA1, BRCA2, FAN1, MLH1, PMS2
13
Show member pathways
10.0BRAF, KRAS, PIK3CA, TGFBR2
1410.0APC, BRAF, KRAS, TP53
15
Show member pathways
10.0BRCA1, BRCA2, EXO1, POLE
1610.0APC, MLH1, MSH2, PMS2, TP53
17
Show member pathways
10.0BRAF, KRAS, PIK3CA, TP53
1810.0BRAF, KRAS, PIK3CA, TP53
1910.0BRAF, KRAS, PIK3CA, TP53
20
Show member pathways
10.0BRCA1, BRCA2, MSH2, MSH6, T