COCA1
MCID: LYN001
MIFTS: 69

Lynch Syndrome (COCA1) malady

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

Aliases & Classifications for Lynch Syndrome

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Aliases & Descriptions for Lynch Syndrome:

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

Characteristics:


GeneReviews:

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


Classifications:



External Ids:

Disease Ontology11 DOID:3883
MeSH39 D003123
SNOMED-CT62 315058005

Summaries for Lynch Syndrome

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NIH Rare Diseases:48 Lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as 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. treatment of colon cancer is surgical removal of the affected part of the colon (colectomy). people with lynch syndrome should have routine colonoscopies. last updated: 4/13/2017

MalaCards based summary: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to mismatch repair cancer syndrome and colorectal cancer, and has symptoms including visual impairment, depression and irritability. 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 skin, and related mouse phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and Decreased viability.

Genetics Home Reference:25 Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

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

Wikipedia:71 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic... more...

GeneReviews for NBK1211

Related Diseases for Lynch Syndrome

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Diseases in the Lynch Syndrome family:

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

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1mismatch repair cancer syndrome31.9MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
2colorectal cancer29.6APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
3tgbfr2-related lynch syndrome11.8
4mlh3-related lynch syndrome11.8
5mlh1-related lynch syndrome11.7
6msh2-related lynch syndrome11.7
7msh6-related lynch syndrome11.7
8pms2-related lynch syndrome11.7
9epcam-related lynch syndrome11.7
10pms1-related lynch syndrome11.7
11colorectal cancer, hereditary nonpolyposis, type 111.7
12ovarian cancer11.2
13muir-torre syndrome11.1
14pancreatic cancer11.1
15gastric cancer11.1
16duodenum cancer10.8
17familial stomach cancer10.8
18endometrial cancer10.4
19cask-related disorders10.4MSH6, PMS2
20benign fibrous mesothelioma10.4MLH1, MSH2, MSH6
21scarlet fever10.4BRAF, MSH2, TP53
22trypanosomiasis10.4MLH1, MSH3, MSH6
23spondylarthropathy10.4BRAF, CDKN2A, TP53
24large intestine adenoma10.4MLH1, MSH2, MSH6, PMS2
25neurofibromatosis-noonan syndrome10.4MLH1, MSH2, MSH6, PMS2
26htr2a-related altered drug metabolism10.4APC, MLH1, MUTYH
27churg-strauss syndrome10.4MLH1, MSH2, MSH6, PMS1
28clear cell adenofibroma10.4CDKN2A, TP53
29hereditary sensory and autonomic neuropathy with deafness and global delay10.4APC, MLH1, MUTYH
30well-differentiated thymic neuroendocrine carcinoma10.3BRAF, TP53
31lacrimal gland adenoid cystic carcinoma10.3CDKN2A, TP53
32pancreatic invasive mucinous cystadenocarcinoma10.3BRCA2, CDKN2A, PMS2
33malignant spindle cell melanoma10.3MLH1, MSH2, TP53
34skin papilloma10.3MLH1, MSH2, MSH6
35seborrheic dermatitis10.3MLH1, MSH2, MSH6, PMS2
36inhibited male orgasm10.3BRAF, KRAS, TP53
37postpoliomyelitis syndrome10.3CDKN2A, KRAS, TP53
38neuroretinitis10.3KRAS, MLH1, MSH2, MSH6
39endometrial squamous cell carcinoma10.3APC, CDKN2A, MLH1, TP53
40submucosal invasive colon adenocarcinoma10.3APC, BRCA2, TP53
41autoimmune autonomic ganglionopathy10.3APC, MSH2, MSH6, MUTYH
42ossifying fibromyxoid tumor10.3CDKN2A, KRAS, TP53
43lattice corneal dystrophy10.3BRAF, CDKN2A, MLH1, TP53
44aicardi-goutieres syndrome10.3CDKN2A, KRAS, TP53
45cauda equina neoplasm10.3MLH1, MSH2, MSH6, PMS1, PMS2
46tamoxifen-related endometrial lesion10.3CDKN2A, KRAS, TP53
47allergic contact dermatitis10.3CDKN2A, KRAS, MLH1, TP53
48myxedema10.3CDKN2A, KRAS, TP53
49prostatic adenoma10.3CDKN2A, KRAS, MLH1, TP53
50basophilic carcinoma10.3EPCAM, KRAS, TP53

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



Diseases related to lynch syndrome

Symptoms & Phenotypes for Lynch Syndrome

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Human phenotypes related to Lynch Syndrome:

 64 (show all 47)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 depression64 HP:0000716
3 irritability64 HP:0000737
4 hallucinations64 HP:0000738
5 anxiety64 HP:0000739
6 visual field defect64 HP:0001123
7 seizures64 HP:0001250
8 muscular hypotonia64 HP:0001252
9 dysarthria64 HP:0001260
10 hypertonia64 HP:0001276
11 gait disturbance64 HP:0001288
12 flexion contracture64 HP:0001371
13 hepatocellular carcinoma64 HP:0001402
14 weight loss64 HP:0001824
15 nausea and vomiting64 HP:0002017
16 constipation64 HP:0002019
17 malabsorption64 HP:0002024
18 abdominal pain64 HP:0002027
19 migraine64 HP:0002076
20 gastrointestinal hemorrhage64 HP:0002239
21 memory impairment64 HP:0002354
22 developmental regression64 HP:0002376
23 increased intracranial pressure64 HP:0002516
24 basal cell carcinoma64 HP:0002671
25 pituitary adenoma64 HP:0002893
26 colon cancer64 HP:0003003
27 neuroblastoma64 HP:0003006
28 paresthesia64 HP:0003401
29 hemiplegia/hemiparesis64 HP:0004374
30 pancreatic adenocarcinoma64 HP:0006725
31 attention deficit hyperactivity disorder64 HP:0007018
32 abnormal pyramidal signs64 HP:0007256
33 agnosia64 HP:0010524
34 dysgraphia64 HP:0010526
35 neoplasm of the skeletal system64 HP:0010622
36 urinary tract neoplasm64 HP:0010786
37 abnormality of creatine metabolism64 HP:0012113
38 fatigue64 HP:0012378
39 neoplasm of the thyroid gland64 HP:0100031
40 cardiac diverticulum64 HP:0100571
41 amaurosis fugax64 HP:0100576
42 ovarian neoplasm64 HP:0100615
43 dyskinesia64 HP:0100660
44 neoplasm of the rectum64 HP:0100743
45 benign neoplasm of the central nervous system64 HP:0100835
46 glioblastoma64 HP:0100843
47 intestinal polyposis64 HP:0200008

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00016-A10.3APC, BRAF, BRCA1, BRCA2, MSH2
2GR00381-A-19.9BRAF, BRCA1, KRAS, MLH3, MSH2, PMS1
3GR00366-A-1929.5EPCAM, KRAS, LRRFIP2, MSH2, PMS2, POLE
4GR00250-A-39.0BRAF, BRCA1, BRCA2, EXO1, MLH1, MLH3
5GR00250-A-18.1BRAF, BRCA1, BRCA2, CDKN2A, EXO1, MLH1

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

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.9APC, BRAF, BRCA1, CDKN2A, KRAS, TP53
2MP:00053809.3APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
3MP:00053898.9APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1
4MP:00053818.7APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
5MP:00053878.6APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
6MP:00053798.6APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
7MP:00053978.5APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
8MP:00107718.4APC, BRAF, BRCA1, BRCA2, CDKN2A, KRAS
9MP:00053848.3APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
10MP:00020068.2APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1
11MP:00053768.2APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
12MP:00107687.9APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM

Drugs & Therapeutics for Lynch Syndrome

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

(show top 50)    (show all 79)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Levonorgestrelapproved, investigationalPhase 3, Phase 2301797-63-7, 17489-40-613109
Synonyms:
(-)-13-Ethyl-17-hydroxy-18,19-dinor-17alpha-pregn-4-en-20-yn-3-one
(-)-Norgestrel
(8R,9S,10R,13S,14S,17R)-13-ethyl-17-ethynyl-17-hydroxy- 1,2,6,7,8,9,10,11,12,13,14,15,16, 17- tetradecahydrocyclopenta[a] phenanthren-3-one
)-Norgestrel
121714-72-5
13-BETA-ETHYL-17-ALPHA-ETHYNYL-17-BETA-HYDROXYGON-4-EN-3-ONE
13-Ehyl-17alpha-ethynyl-17-hydroxygon-4-en-3-one
13-Ethyl-17-alpha-ethynyl-17-beta-hydroxy-4-gonen-3-one
13-Ethyl-17-alpha-ethynylgon-4-en-17-beta-ol-3-one
13-Ethyl-17alpha-ethynylgon-4-en-17beta-ol-3-one
13-beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
13beta-Ethyl-17alpha-ethynyl-17beta-hydroxygon-4-en-3-one
17-Ethynyl-18-methyl-19-nortestosterone
17-alpha-Ethinyl-13-beta-ethyl-17-beta-hydroxy-4-estren-3-one
17-alpha-Ethynyl-13-ethyl-19-nortestosterone
17alpha-Ethynyl-13-ethyl-19-nortestosterone
17alpha-Ethynyl-13beta-ethyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-17-hydroxy-18-methylestr-4-en-3-one
17alpha-Ethynyl-18-homo-19-nor-testosterone
17alpha-Ethynyl-18-homo-19-nortestosterone
17alpha-ethynyl-17beta-hydroxy-18a-homoestr-4-en-3-one
18,19-Dinor-4-pregnen-20-yn-3-one
18-Methyl-17-alpha-ethynyl-19-nortestosterone
18-Methylnorethisterone
4222-79-1
6533-00-2
72-HOURS
797-62-6
797-63-7
AC1L211U
AC1Q6OEV
BAY 86-5028
BAY86-5028
BIDD:PXR0194
BPBio1_000932
BRD-K35189033-001-03-0
BRN 2391114
BSPBio_000846
Bio-0595
C08149
C08153
CCRIS 6525
CCRIS 9033
CHEBI:44593
CHEBI:6443
CHEMBL1389
CID13109
CPD000059117
Capronor
D(−
D(-)-Norgestrel
D-(-)-Norgestrel
D-Norgestrel
D00950
D00954
DB00367
DB00506
E-Gen-C
EINECS 212-349-8
EINECS 229-433-5
FH 122-A
Follistrel
HMS1570K08
HMS2051M08
HMS2090O06
HSDB 3595
HSDB 6483
Jadelle
LD norgestrel [French]
LMST02030119
LO/Ovral
LS-62083
LS-62084
Ld norgestrel
Levlen
Levlen ED
Levonelle
Levonelle, D-Norgestrel, Levonova, Levonorgestrel
Levonorgestrel
Levonorgestrel (JAN/USP/INN)
Levonorgestrel [USAN:INN:BAN]
Levonorgestrel implants
Levonorgestrelum
Levonorgestrelum [INN-Latin]
Levonova
Levora-21
Levora-28
Logynon ED
Lévonorgestrel
MLS000069491
MLS000759484
 
MLS001074069
Methylnorethindrone
Microgest ED
Microgyn
Microgynon 21
Microgynon 28
Microgynon 30 ED
Microgynon CD
Microlut
Microlution
Microluton
Microval
Minivlar 30
Mirena
Mirena (TN)
MolPort-002-510-453
Monofeme 28
Monovar
N2260_FLUKA
N2260_SIGMA
NCGC00159349-02
NCGC00159349-03
NORPLANT
NSC744007
Neogest
Neogynon 21
NorLevo
Nordet
Nordette 21
Nordette 28
Norgeston
Norgestrel (JP15/USP/INN)
Norgestrel [Progestins]
Norgestrel [USAN:BAN:INN:JAN]
Norgestrel [USAN:INN:BAN:JAN]
Norgestrel-(-)-D
Norgestrelum
Norgestrelum [INN-Latin]
Norplant (TN)
Norplant 2
Norplant II
Norplant System in Plastic Container
Norplant-2
Ovoplex 30-150
Ovral-Lo
Ovranette
Ovrette
Ovrette (TN)
Plan B
Plan b
Postinor
Postinor-2
Prestwick0_000773
Prestwick1_000773
Prestwick2_000773
Prestwick3_000773
Prestwick_109
Preven
Rigevidon 21+7
S1727_Selleck
SAM001246694
SH 70850
SH 850
SMR000059117
SMR000653526
SOH-075
SPBio_002785
Stediril 30
Tetragynon
Tri-Levlen 21
Triagynon
Triciclor
Trifeme 28
Trigoa
Trinordiol 21
Trinordiol 28
Triphasil 21
Triphasil 28
Triquilar ED
Trivora
UNII-3J8Q1747Z2
UNII-5W7SIA7YZW
Wy 3707
Wy-3707
Wy-5104
ZINC03814395
alpha-Norgestrel
component of Lo/ovral
d(-)-Norgestrel
dl-13-beta-Ethyl-17-alpha-ethynyl-19-nortestosterone
dl-Norgestrel
norgestrel
2
Bevacizumabapproved, investigationalPhase 3, Phase 12020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
3
LoperamideapprovedPhase 314553179-11-63955
Synonyms:
2-methoxyethyl1-methylethyl2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate
34552-83-5 (mono-hydrochloride)
4-(4-Chlorophenyl)-N,N-dimethyl-.alpha.,.alpha.-diphenyl-4-hydroxy-1-piperidinebutanamide
4-(4-Chlorophenyl)-N,N-dimethyl-alpha,alpha-diphenyl-4-hydroxy-1-piperidinebutanamide
4-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]-N,N-dimethyl-2,2-diphenylbutanamide
5-21-02-00379 (Beilstein Handbook Reference)
53179-11-6
AB00053697
AC1L1H38
AKOS000573892
Apo-Loperamide
BAS 01889668
BPBio1_000274
BRD-K61250553-001-02-9
BRD-K61250553-003-05-8
BRN 1558273
BSPBio_000248
BSPBio_001381
BSPBio_002769
Bio1_000082
Bio1_000571
Bio1_001060
Bio2_000101
Bio2_000581
C07080
C29H33ClN2O2
CAS-34552-83-5
CBiol_001796
CHEBI:162259
CHEBI:6532
CHEMBL841
CID3955
D08144
DB00836
Diamide (TN)
Diarr-Eze
DivK1c_000215
EINECS 258-416-5
HMS1791F03
HMS1989F03
HMS2089C13
IDI1_000215
IDI1_033851
Imodium A-D
Imodium A-D Caplets
Ioperamide
KBio1_000215
KBio2_000101
KBio2_000854
KBio2_002669
KBio2_003422
KBio2_005237
KBio2_005990
KBio3_000201
 
KBio3_000202
KBio3_001989
KBioGR_000101
KBioGR_001685
KBioSS_000101
KBioSS_000854
Kaopectate II
L000709
LS-114352
Lopac-L-4762
Lopac0_000708
Loperacap
Loperamid
Loperamida
Loperamida [INN-Spanish]
Loperamide (INN)
Loperamide Monohydrochloride
Loperamide [INN:BAN]
Loperamide hydrochloride
Loperamidum
Loperamidum [INN-Latin]
Lopéramide
Maalox Anti-Diarrheal
MolPort-001-969-016
NCGC00015608-01
NCGC00015608-08
NCGC00016828-01
NCGC00024818-01
NCGC00024818-02
NCGC00024818-03
NCGC00024818-04
NCGC00024818-05
NINDS_000215
Nu-Loperamide
Oprea1_109220
PMS-Loperamide
Pepto Diarrhea Control
Prestwick0_000144
Prestwick1_000144
Prestwick2_000144
Prestwick3_000144
R-18553
Rho-Loperamide
SPBio_001816
SPBio_002187
ST095179
Spectrum2_001738
Spectrum3_001015
Spectrum4_001143
Spectrum5_001374
Spectrum_000374
Tocris-0840
UNII-6X9OC3H4II
loperamide
nchembio.559-comp8
nchembio.79-comp7
4
FluorouracilapprovedPhase 3185651-21-83385
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
LevoleucovorinapprovedPhase 372868538-85-2
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-5-formyltetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
 
(S)-Leucovorin
Citrovorum factor
L-Folinic acid
Levofolene
Levofolinic acid
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
6
Oxaliplatinapproved, investigationalPhase 3146061825-94-35310940, 9887054, 6857599, 9887054, 43805
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
7
Aspirinapproved, vet_approvedPhase 3115250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalicylsäure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide acetylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
Entericin
Enterophen
 
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
acide 2-(acétyloxy)benzoïque
acide acétylsalicylique
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
salicylic acid acetate
ácido acetilsalicílico
8
leucovorinapproved, NutraceuticalPhase 3323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
9
Folic Acidapproved, nutraceutical, vet_approvedPhase 3439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
10Angiogenesis Modulating AgentsPhase 3, Phase 14185
11AnalgesicsPhase 3, Phase 2, Phase 111733
12Angiogenesis InhibitorsPhase 3, Phase 14257
13Analgesics, Non-NarcoticPhase 3, Phase 2, Phase 16501
14MitogensPhase 3, Phase 11617
15Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 110729
16Contraceptives, OralPhase 3, Phase 21327
17Contraceptive AgentsPhase 3, Phase 21967
18Cyclooxygenase InhibitorsPhase 3, Phase 2, Phase 12870
19Antirheumatic AgentsPhase 3, Phase 2, Phase 110956
20Anti-Inflammatory Agents, Non-SteroidalPhase 3, Phase 2, Phase 14443
21Peripheral Nervous System AgentsPhase 3, Phase 2, Phase 123689
22Endothelial Growth FactorsPhase 3, Phase 1382
23AntibodiesPhase 3, Phase 26394
24AntidiarrhealsPhase 3145
25VitaminsPhase 35282
26Gastrointestinal AgentsPhase 38402
27ImmunoglobulinsPhase 3, Phase 26394
28AntimetabolitesPhase 312054
29Immunoglobulin GPhase 3275
30Calcium, DietaryPhase 35713
31Bone Density Conservation AgentsPhase 33376
32Antibodies, MonoclonalPhase 3, Phase 24039
33Immunosuppressive AgentsPhase 313086
34MicronutrientsPhase 36001
35Vitamin B ComplexPhase 34337
36Trace ElementsPhase 36001
37Antimetabolites, AntineoplasticPhase 37361
38AntidotesPhase 31071
39HematinicsPhase 31684
40Protective AgentsPhase 37443
41Platelet Aggregation InhibitorsPhase 32516
42Acetylsalicylic acid lysinatePhase 312
43AntipyreticsPhase 31605
44Fibrinolytic AgentsPhase 32388
45ColaNutraceuticalPhase 3, Phase 2, Phase 11946
46FolateNutraceuticalPhase 34392
47Vitamin B9NutraceuticalPhase 34392
48
Medroxyprogesterone acetateapproved, investigationalPhase 214871-58-9
Synonyms:
(6alpha)-17-(Acetyloxy)-6-methylpreg-4-ene-3,20-dione
17-Acetoxy-6alpha-methylprogesterone
17-Acetoxy-6α-methylprogesterone
17alpha-Hydroxy-6alpha-methylprogesterone acetate
17α-hydroxy-6α-methylprogesterone acetate
6-alpha-Methyl-17-alpha-acetoxyprogesterone
6-alpha-Methyl-17-alpha-hydroxyprogesterone acetate
6alpha-Methyl-17-acetoxy progesterone
 
6alpha-Methyl-17alpha-hydroxyprogesterone acetate
6alpha-Methyl-4-pregnene-3,20-dion-17alpha-ol acetate
6α-Methyl-17-acetoxy progesterone
6α-Methyl-17α-hydroxyprogesterone acetate
MPA
Medroxyacetate progesterone
Medroxyprogesterone 17-acetate
Medroxyprogesterone acetate
Methylacetoxyprogesterone
Metigestrona
49
Celecoxibapproved, investigationalPhase 2, Phase 1444169590-42-52662
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
50
Ethinyl EstradiolapprovedPhase 272857-63-65991
Synonyms:
17 alpha-Ethinylestradiol
17 alpha-Ethynylestradiol
17 alpha-Ethynyloestradiol
17 alpha-ethinyestradiol
17-Ethinyl-3,17-estradiol
17-Ethinyl-3,17-oestradiol
17-Ethinylestradiol
17-Ethynylestradiol
17-Ethynylestradiol ram
17-Ethynyloestradiol
17-alpha-Ethinyl-17-beta-estradiol
17-alpha-Ethynyl-17-beta-oestradiol
17-alpha-Ethynylestradiol
17-alpha-Ethynylestradiol-17-beta
17-alpha-ethynyl estradiol
17-ethinyl-3,17-estradiol
17-ethinyl-3,17-oestradiol
17-ethinylestradiol
17.alpha.-Ethinyl-17.beta.-estradiol
17.alpha.-Ethinylestradiol
17.alpha.-Ethynyl-17.beta.-oestradiol
17.alpha.-Ethynylestradiol
17.alpha.-Ethynylestradiol-l7.beta.
17.alpha.-Ethynyloestradiol
17.alpha.-Ethynyloestradiol-17.beta.
17a-Ethinyl-17b-estradiol
17a-Ethinylestradiol
17a-Ethynyl-17b-oestradiol
17a-Ethynylestradiol
17a-Ethynylestradiol-l7b
17a-Ethynyloestradiol
17a-Ethynyloestradiol-17b
17alpha-Ethinyl estradiol
17alpha-Ethinylestradiol
17alpha-Ethinylestradiol-17beta
17alpha-Ethynylestradiol
17alpha-Ethynyloestradiol
17alpha-Ethynyloestradiol-17beta
17α-ethynylestradiol
406932-93-2
46263_FLUKA
46263_RIEDEL
57-63-6
77538-56-8
AC-2169
AC1L1LK6
AI3-52941
Aethinyloestradiolum
Aethinyoestradiol
Aethinyoestradiol [German]
Alora
Amenoron
Amenorone
Anovlar
BIDD:ER0162
BRN 2419975
Bio-0610
C07534
CCRIS 286
CHEBI:4903
CHEMBL691
CID5991
CPD000058319
Certostat
Chee-O-Gen
Chee-O-Genf
Cyclosa
D004997
D00554
DB00977
Dicromil
Diognat-E
Diogyn E
Diogyn-E
Diprol
Dyloform
E4876_SIGMA
EE
EE(sub 2)
EE2
EINECS 200-342-2
EO
ETHINYLESTRADIOL
Effik Brand of Ethinyl Estradiol
Ertonyl
Esclim
Esteed
Estigyn
Estinyl
Estinyl (TN)
Eston-E
Estopherol
Estoral
Estoral (Orion)
Estoral (VAN)
Estoral [Orion]
Estoral {[Orion]}
Estorals
Estradiol, Ethinyl
Estradiol, Ethynyl
Estring
Estrogen
Ethidol
Ethinoral
Ethinyl E2
Ethinyl Estradiol Hemihydrate
Ethinyl Estradiol [USP]
 
Ethinyl Estradiol, (8 alpha)-Isomer
Ethinyl Oestradiol Effik
Ethinyl estradiol
Ethinyl estradiol (USP)
Ethinyl-Oestradiol Effik
Ethinyl-Oestranol
Ethinyl-oestranol
Ethinylestradiol
Ethinylestradiol (JP15/INN)
Ethinylestradiol Jenapharm
Ethinylestradiol [INN:BAN:JAN]
Ethinylestradiolum
Ethinylestradiolum [INN-Latin]
Ethinylestriol
Ethinyloestradiol
Ethinyloestradiol [Steroidal oestrogens]
Ethy 11
Ethynyl estradiol
Ethynylestradiol
Ethynylestradiol, Ethinyl Estradiol
Ethynyloestradiol
Eticyclin
Eticyclol
Eticylol
Etinestrol
Etinestryl
Etinilestradiol
Etinilestradiol [INN-Spanish]
Etinilestradiolo
Etinilestradiolo [DCIT]
Etinoestryl
Etistradiol
Etivex
Evra
Feminone
Fempatch
Follicoral
Ginestrene
Gynodiol
Gynolett
HMS2051I19
HSDB 3587
Halodrin
Hemihydrate, Ethinyl Estradiol
Inestra
Innofem
Jenapharm Brand of Ethinyl Estradiol
Jenapharm, Ethinylestradiol
Kolpolyn
LMST02010036
LS-231
Linoral
Lynoral
MLS000028479
MLS000758274
Marvelon
Menolyn
Menostar
Mercilon
Microfollin
Microfollin Forte
MolPort-001-794-636
NCGC00091533-01
NCGC00091533-04
NCGC00091533-05
NCI60_000234
NSC-10973
NSC10973
Neo-Estrone
Nogest-S
Novestrol
OVULEN-21
OVULEN-28
Oradiol
Orestralyn
Orestrayln
Organon Brand of Ethinyl Estradiol
Ortho-Cyclen
Ovex
Oviol
PUBERTAL ETHINYL ESTRADIOL STUDY
Palonyl
Perovex
Primogyn
Primogyn C
Primogyn M
Progynon C
Progynon M
Prosexol
S1625_Selleck
SAM001247008
SGCUT00127
SMR000058319
Schering Brand of Ethinyl Estradiol
Spanestrin
Thiuram E
Thiuranide
UNII-423D2T571U
Vagifem
Varnoline
WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
Ylestrol
component of Demulen
component of Oracon
component of Ortrel
ethinyl estradiol
ethynyl estradiol
to_000048

Interventional clinical trials:

(show top 50)    (show all 79)
idNameStatusNCT IDPhase
1Use of Post Operative Loperamide in Colorectal Patients After Diverting IleostomiesRecruitingNCT02263365Phase 3
2Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
3Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch SyndromeNot yet recruitingNCT02813824Phase 3
4Finding the Best Dose of Aspirin to Prevent Lynch Syndrome CancersNot yet recruitingNCT02497820Phase 3
5Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite InstabilityNot yet recruitingNCT02912559Phase 3
6Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel AdenocarcinomaNot yet recruitingNCT02502370Phase 3
7Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch SyndromeTerminatedNCT00566644Phase 3
8CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer SyndromeCompletedNCT00224601Phase 2
9Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon CancerCompletedNCT00033358Phase 2
10Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSIActive, not recruitingNCT01885702Phase 1, Phase 2
11Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal CancersActive, not recruitingNCT00503035Phase 2
12Mesalamine for Colorectal Cancer Prevention Program in Lynch SyndromeNot yet recruitingNCT03070574Phase 2
13Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin CancersNot yet recruitingNCT02978625Phase 2
14Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous PolyposisTerminatedNCT00033371Phase 2
15Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and CarriersCompletedNCT00001693Phase 1
16Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
17Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous PolyposisCompletedNCT00685568Phase 1
18Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
19A Social Media Approach to Improve Genetic Risk Communication Phase IActive, not recruitingNCT01645904Phase 1
20Implementation of Guidelines on Hereditary or Familial Colorectal CancerUnknown statusNCT00929097
21Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal CancerUnknown statusNCT00675636
22Implementation of a New Strategy to Identify HNPCC PatientsUnknown statusNCT00141466
23I-Scan For Colon Polyp Detection In HNPCCUnknown statusNCT01823471
24Hypodontia and Ovarian CancerUnknown statusNCT01470235
25Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal CancerUnknown statusNCT00516230
26Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer SurveillanceCompletedNCT00313755
27Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
28Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00508846
29Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00004210
30Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal CancerCompletedNCT00450424
31Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch SyndromeCompletedNCT00905710
32Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon CancerCompletedNCT00341575
33Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
34Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch SyndromeCompletedNCT00898768Early Phase 1
35Molecular Screening for Lynch Syndrome in Southern DenmarkCompletedNCT01216930
36Integrating Genetic Testing for Lynch Syndrome in a Managed Care SettingCompletedNCT01582841
37Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
38Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402
39Combined Colon and Endometrial Cancer Screening in Women With HNPCCCompletedNCT00510796
40Oligogenic Determinism of Colorectal CancerCompletedNCT01057953
41Qigong For Treatment Of FibromyalgiaCompletedNCT00938834
42What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate?CompletedNCT01692977
43Survivorship in Lynch Syndrome FamiliesRecruitingNCT01126840
44Registry for Women Who Are At Risk Or May Have Lynch SyndromeRecruitingNCT00508573
45High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome.RecruitingNCT02951390
46Multi-Organ Screening Recommendations in Patients With Lynch SyndromeRecruitingNCT00582296
47The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)RecruitingNCT01447199
48Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
49NBI Versus Indigo Carmine During Colonoscopy in Lynch SyndromeRecruitingNCT02570516
50The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089

Search NIH Clinical Center for Lynch Syndrome


Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Genetic Tests for Lynch Syndrome

About this section

Genetic tests related to Lynch Syndrome:

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

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

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

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50)    (show all 729)
idTitleAuthorsYear
1
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years. (28498244)
2017
2
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. (28466842)
2017
3
Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. (28489507)
2017
4
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. (28481244)
2017
5
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. (28065618)
2017
6
Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome. (28471861)
2017
7
A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). (28460341)
2017
8
The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis. (28508326)
2017
9
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. (28422960)
2017
10
Early gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome. (28501935)
2017
11
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. (28531214)
2017
12
Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: A systematic review and meta-analysis. (28407411)
2017
13
Approach to Lynch Syndrome for the Gastroenterologist. (27990589)
2017
14
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey. (28434157)
2017
15
Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study. (28525912)
2017
16
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). (28510097)
2017
17
Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome. (28059909)
2017
18
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. (28059100)
2017
19
Comparison of lifestyle, hormonal and medical factors in women with sporadic and Lynch syndrome-associated endometrial cancer: A retrospective case-case study. (28529751)
2017
20
Lynch Syndrome and Endometrial Cancer. (28376523)
2017
21
How does genetic risk information for Lynch syndrome translate to risk management behaviours? (28070225)
2017
22
Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome. (28471433)
2017
23
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. (28449805)
2017
24
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. (28514183)
2017
25
Universal molecular screening does not effectively detect Lynch syndrome in clinical practice. (28491141)
2017
26
The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. (27894169)
2017
27
Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report. (27928858)
2016
28
Familial adrenocortical carcinoma in association with Lynch syndrome. (27144940)
2016
29
Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol. (26969429)
2016
30
Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAM-MSH2 fusion. (27896849)
2016
31
Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions. (26990828)
2016
32
Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. (27535758)
2016
33
Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. (28031357)
2016
34
Colorectal Cancer Risk in Patients With Lynch Syndrome andA Inflammatory Bowel Disease. (27521512)
2016
35
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. (27601186)
2016
36
Small bowel adenocarcinoma in Lynch syndrome: A case report. (27446478)
2016
37
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression. (27168032)
2016
38
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. (27468915)
2016
39
Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. (27020214)
2016
40
Evaluation of MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients. (27797228)
2016
41
Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. (27069191)
2016
42
Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report. (27903930)
2016
43
Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan. (27482709)
2016
44
Genetic testing for Lynch syndrome in the province of Ontario. (27019099)
2016
45
Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome. (27602130)
2016
46
Recent discoveries in the molecular genetics of Lynch syndrome. (27038793)
2016
47
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome. (27413415)
2016
48
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. (27013479)
2016
49
Colorectal Choriocarcinoma in a Patient with Probable Lynch Syndrome. (27965933)
2016
50
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. (27064304)
2016

Variations for Lynch Syndrome

About this section

Clinvar genetic disease variations for Lynch Syndrome:

5 (show all 1,412)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH6NM_ 000179.2(MSH6): c.468_ 471delAAAG (p.Glu158Profs)deletionPathogenicrs587779941GRCh37Chr 2, 48023043: 48023046
2MSH2NM_ 000251.2(MSH2): c.932delA (p.Asn311Thrfs)deletionPathogenicrs587779979GRCh37Chr 2, 47641547: 47641547
3PMS2NM_ 000535.6(PMS2): c.2T> C (p.Met1Thr)SNVPathogenic/ Likely pathogenicrs587780059GRCh37Chr 7, 6048649: 6048649
4MSH6NM_ 000179.2(MSH6): c.1367G> A (p.Trp456Ter)SNVPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
5MSH6NM_ 000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
6PMS2NM_ 000535.6(PMS2): c.1376C> A (p.Ser459Ter)SNVPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
7PMS2NM_ 000535.6(PMS2): c.904-2A> GSNVPathogenic/ Likely pathogenicrs587781339GRCh37Chr 7, 6031690: 6031690
8MLH1NM_ 000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
9PMS2NM_ 000535.6(PMS2): c.2500_ 2501delATinsG (p.Met834Glyfs)indelPathogenicrs587781626GRCh38Chr 7, 5973487: 5973488
10MSH6NM_ 000179.2(MSH6): c.742delC (p.Arg248Glufs)deletionPathogenicrs587781691GRCh37Chr 2, 48025864: 48025864
11PMS2NM_ 000535.6(PMS2): c.325delG (p.Glu109Lysfs)deletionPathogenicrs587781716GRCh37Chr 7, 6043349: 6043349
12PMS2NM_ 000535.6(PMS2): c.736_ 741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
13PMS2NM_ 000535.6(PMS2): c.88C> T (p.Gln30Ter)SNVPathogenicrs141577476GRCh37Chr 7, 6045598: 6045598
14PMS2NM_ 000535.6(PMS2): c.2117delA (p.Lys706Serfs)deletionPathogenicrs587782704GRCh37Chr 7, 6022512: 6022512
15PMS2NM_ 000535.6(PMS2): c.746_ 753delACTCCGTG (p.Asp249Valfs)deletionPathogenicrs587782710GRCh37Chr 7, 6037007: 6037014
16MSH6NM_ 000179.2(MSH6): c.3037_ 3041delAAGAA (p.Lys1013Valfs)deletionPathogenic/ Likely pathogenicrs587782712GRCh37Chr 2, 48028159: 48028163
17MLH1NM_ 000249.3(MLH1): c.117-2A> GSNVPathogenicrs267607712GRCh37Chr 3, 37038108: 37038108
18EPCAMNM_ 002354.2(EPCAM): c.556-14A> GSNVPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
19PMS2NM_ 000535.6(PMS2): c.1144+1G> ASNVPathogenic/ Likely pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
20MLH1NM_ 000249.3(MLH1): c.131C> T (p.Ser44Phe)SNVPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
21MLH1NM_ 000249.3(MLH1): c.1852_ 1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
22MLH1NM_ 000249.3(MLH1): c.986A> C (p.His329Pro)SNVPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
23MLH1NM_ 000249.3(MLH1): c.676C> T (p.Arg226Ter)SNVPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
24MLH1NM_ 000249.3(MLH1): c.199G> T (p.Gly67Trp)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
25MLH1NM_ 000249.3(MLH1): c.350C> T (p.Thr117Met)SNVPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
26MLH1NM_ 000249.3(MLH1): c.1942C> T (p.Pro648Ser)SNVPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
27MLH1NM_ 000249.3(MLH1): c.806C> G (p.Ser269Ter)SNVPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
28MLH1NM_ 000249.3(MLH1): c.2041G> A (p.Ala681Thr)SNVPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
29MLH1NM_ 000249.3(MLH1): c.104_ 105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
30MLH1NM_ 000249.3(MLH1): c.200G> A (p.Gly67Glu)SNVPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
31MSH2NM_ 000251.2(MSH2): c.1865C> T (p.Pro622Leu)SNVPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
32MSH2NM_ 000251.2(MSH2): c.1216C> T (p.Arg406Ter)SNVPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
33MSH2NM_ 000251.2(MSH2): c.1915C> T (p.His639Tyr)SNVPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
34MSH2NM_ 000251.2(MSH2): c.1786_ 1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
35MSH2NM_ 000251.2(MSH2): c.1801C> T (p.Gln601Ter)SNVPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
36MSH2NM_ 000251.2(MSH2): c.1571G> C (p.Arg524Pro)SNVLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
37MSH2NM_ 000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
38MSH2NM_ 000251.2(MSH2): c.269_ 290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
39MSH2NM_ 000251.2(MSH2): c.1906G> C (p.Ala636Pro)SNVPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
40MSH2NM_ 000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
41MSH6NM_ 000179.2(MSH6): c.1805C> G (p.Ser602Ter)SNVPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
42MSH6NM_ 000179.2(MSH6): c.1842delC (p.Cys615Valfs)deletionPathogenicrs730881825GRCh38Chr 2, 47799825: 47799825
43MSH6NM_ 000179.2(MSH6): c.2832_ 2833delAA (p.Ile944Metfs)deletionPathogenicrs730881827GRCh38Chr 2, 47800815: 47800816
44MSH6NM_ 000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
45PMS2NM_ 000535.6(PMS2): c.2T> A (p.Met1Lys)SNVPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
46PMS2NM_ 000535.6(PMS2): c.765C> A (p.Tyr255Ter)SNVPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
47MSH6NM_ 000179.2(MSH6): c.10C> T (p.Gln4Ter)SNVPathogenic/ Likely pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
48MSH6NM_ 000179.2(MSH6): c.578delT (p.Leu193Trpfs)deletionPathogenicrs587782281GRCh37Chr 2, 48023153: 48023153
49PMS2NM_ 000535.6(PMS2): c.251-2A> TSNVPathogenic/ Likely pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
50MSH6NM_ 000179.2(MSH6): c.3980_ 3983dupATCA (p.Leu1330Valfs)duplicationPathogenic/ Likely pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
51MSH6NM_ 000179.2(MSH6): c.989C> A (p.Ser330Ter)SNVPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
52PMS2NM_ 000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh37Chr 7, 6026522: 6026522
53MSH6NM_ 000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
54EPCAMNM_ 002354.2(EPCAM): c.859-?_ *415deldeletionPathogenicGRCh37Chr 2, 47612305: 47614167
55MSH6NM_ 000179.2(MSH6): c.2144_ 2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
56MSH2NM_ 000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
57PMS2NM_ 000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh38Chr 7, 5987580: 5987580
58MSH2NM_ 000251.2(MSH2): c.782_ 783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
59MSH2NM_ 000251.2(MSH2): c.1442T> A (p.Leu481Ter)SNVPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
60MSH6NM_ 000179.2(MSH6): c.1108_ 1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
61MSH2NM_ 000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
62MLH1NM_ 000249.3(MLH1): c.1_ 116del116 (p.Met1Phefs)deletionPathogenicGRCh38Chr 3, 36993548: 36993663
63MLH1NM_ 000249.3(MLH1): c.208_ 545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
64MLH1NM_ 000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
65MSH2NM_ 000251.2(MSH2): c.1278_ 1386+1del110deletionPathogenicGRCh38Chr 2, 47445549: 47445658
66MSH2NM_ 000251.2(MSH2): c.1984C> T (p.Gln662Ter)SNVPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
67MSH6NM_ 000179.2(MSH6): c.(?_ -1)_ 457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
68MSH6NM_ 000179.2(MSH6): c.1045C> T (p.Gln349Ter)SNVPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
69MSH6NM_ 000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
70MSH6NM_ 000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
71MSH6NM_ 000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh38Chr 2, 47803682: 47803682
72MLH1NM_ 000249.3(MLH1): c.1912G> T (p.Gly638Ter)SNVPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
73MLH1NM_ 000249.3(MLH1): c.704_ 723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
74MSH2NM_ 000251.2(MSH2): c.(?_ -1)_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630330: 47643568
75MSH2NM_ 000251.2(MSH2): c.141_ 154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
76MSH2NM_ 000251.2(MSH2): c.1662-?_ *(1_ ?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
77PMS2NM_ 000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
78PMS2NM_ 000535.6(PMS2): c.1297A> T (p.Lys433Ter)SNVPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
79PMS2NM_ 000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
80PMS2NM_ 000535.6(PMS2): c.1638_ 1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
81PMS2NM_ 000535.6(PMS2): c.989-?_ 1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
82MSH6NM_ 000179.2(MSH6): c.1610_ 1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh37Chr 2, 48026732: 48026735
83MSH2NM_ 000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
84MLH1NM_ 000249.3(MLH1): c.1790_ 1791delGGinsATCTGGACC (p.Trp597Tyrfs)indelPathogenicrs863225378GRCh38Chr 3, 37047577: 37047578
85MLH1NM_ 000249.3(MLH1): c.307-?_ 380+?deldeletionPathogenicGRCh37Chr 3, 37045892: 37045965
86MSH2NM_ 000251.2(MSH2): c.1276+2T> CSNVPathogenic/ Likely pathogenicrs267607953GRCh37Chr 2, 47657082: 47657082
87MSH6NM_ 000179.2(MSH6): c.1168_ 1170delGATinsAA (p.Asp390Asnfs)indelPathogenic/ Likely pathogenicrs863225398GRCh37Chr 2, 48026290: 48026292
88MSH6NM_ 000179.2(MSH6): c.3332_ 3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh37Chr 2, 48030718: 48030721
89MSH6NM_ 000179.2(MSH6): c.3528_ 3532delACTTG (p.Leu1177Cysfs)deletionPathogenic/ Likely pathogenicrs863225408GRCh38Chr 2, 47804999: 47805003
90MSH6NM_ 000179.2(MSH6): c.3632T> C (p.Leu1211Pro)SNVPathogenicrs864622041GRCh37Chr 2, 48032832: 48032832
91MSH2NM_ 000251.2(MSH2): c.1963_ 1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh38Chr 2, 47475228: 47475229
92MSH6NM_ 000179.2(MSH6): c.1691C> A (p.Ser564Ter)SNVPathogenicrs864622153GRCh38Chr 2, 47799674: 47799674
93MSH2NM_ 000251.2(MSH2): c.748G> T (p.Gly250Ter)SNVPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
94PMS2NM_ 000535.6(PMS2): c.121G> T (p.Glu41Ter)SNVPathogenicrs3209663GRCh38Chr 7, 6005934: 6005934
95MSH6NM_ 000179.2(MSH6): c.458-?_ 3172+?deldeletionPathogenicGRCh37Chr 2, 48023033: 48028294
96MLH1NM_ 000249.3(MLH1): c.381-1G> ASNVPathogenic/ Likely pathogenicrs267607744GRCh38Chr 3, 37006990: 37006990
97MSH6NM_ 000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
98MSH2NM_ 000251.2(MSH2): c.819_ 821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
99PMS2NM_ 000535.6(PMS2): c.538-?_ 903+?deldeletionPathogenicGRCh38Chr 7, 5995534: 5999275
100MSH2NM_ 000251.2(MSH2): c.842C> G (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
101MSH2NM_ 000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
102MLH1NM_ 000249.3(MLH1): c.1246A> T (p.Lys416Ter)SNVPathogenicrs267607823GRCh37Chr 3, 37067335: 37067335
103EPCAMNM_ 002354.2(EPCAM): c.491+1G> TSNVPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
104MSH6NM_ 000179.2(MSH6): c.3526A> T (p.Arg1176Ter)SNVPathogenicrs786203968GRCh37Chr 2, 48032136: 48032136
105MSH6NM_ 000179.2(MSH6): c.1387G> T (p.Glu463Ter)SNVPathogenicrs864622435GRCh37Chr 2, 48026509: 48026509
106MSH2NM_ 000251.2(MSH2): c.1563T> A (p.Tyr521Ter)SNVPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
107MSH2NM_ 000251.2(MSH2): c.421_ 422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh38Chr 2, 47410148: 47410149
108MSH6NM_ 000179.2(MSH6): c.2308_ 2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh38Chr 2, 47800291: 47800295
109PMS2NM_ 000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh37Chr 7, 6026646: 6026646
110MLH1NM_ 000249.3(MLH1): c.25_ 26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
111MSH2NM_ 000251.2(MSH2): c.1201_ 1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
112MSH6NM_ 000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
113MSH6NM_ 000179.2(MSH6): c.2848_ 2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
114PMS2NM_ 000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh37Chr 7, 6026896: 6026896
115MSH2NM_ 000251.2(MSH2): c.1384C> T (p.Gln462Ter)SNVPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
116PMS2NM_ 000535.6(PMS2): c.2T> G (p.Met1Arg)SNVPathogenicrs587780059GRCh37Chr 7, 6048649: 6048649
117PMS2NM_ 000535.6(PMS2): c.851C> G (p.Ser284Ter)SNVPathogenicrs587782898GRCh37Chr 7, 6035217: 6035217
118MSH6NM_ 000179.2(MSH6): c.2645_ 2653delTTAAGTCTA (p.Phe882_ Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
119PMS2NM_ 000535.6(PMS2): c.631C> T (p.Arg211Ter)SNVPathogenicrs760228510GRCh37Chr 7, 6038813: 6038813
120PMS2NM_ 000535.6(PMS2): c.2445+1G> TSNVPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
121MSH6NM_ 000179.2(MSH6): c.1350_ 1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
122MSH6NM_ 000179.2(MSH6): c.1570_ 1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
123MSH6NM_ 000179.2(MSH6): c.2056_ 2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh37Chr 2, 48027178: 48027182
124MSH6NM_ 000179.2(MSH6): c.2680C> T (p.Gln894Ter)SNVPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
125MSH6NM_ 000179.2(MSH6): c.2804_ 2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
126MSH6NM_ 000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
127MSH6NM_ 000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
128MSH6NM_ 000179.2(MSH6): c.3717_ 3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
129MSH6NM_ 000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
130MSH6NM_ 000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
131MLH1NM_ 000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
132MLH1NM_ 000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
133MLH1NM_ 000249.3(MLH1): c.2044_ 2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
134MLH1NM_ 000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
135MLH1NM_ 000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
136MLH1NM_ 000249.3(MLH1): c.961_ 962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
137MSH2NM_ 000251.2(MSH2): c.1404_ 1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
138MSH2NM_ 000251.2(MSH2): c.2150_ 2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh38Chr 2, 47476511: 47476514
139MSH2NM_ 000251.2(MSH2): c.340G> T (p.Glu114Ter)SNVPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
140MSH2NM_ 000251.2(MSH2): c.790C> T (p.Gln264Ter)SNVPathogenicrs878853824GRCh38Chr 2, 47412558: 47412558
141PMS2NM_ 000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
142PMS2NM_ 000535.6(PMS2): c.1591G> T (p.Glu531Ter)SNVPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
143PMS2NM_ 000535.6(PMS2): c.2276-?_ *160+?deldeletionPathogenic
144PMS2NM_ 000535.6(PMS2): c.947_ 948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh37Chr 7, 6031644: 6031645
145EPCAMNM_ 002354.2(EPCAM): c.133C> T (p.Gln45Ter)SNVPathogenicrs878854485GRCh38Chr 2, 47373519: 47373519
146EPCAMNM_ 002354.2(EPCAM): c.429G> A (p.Trp143Ter)SNVPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
147EPCAMNM_ 002354.2(EPCAM): c.523C> T (p.Gln175Ter)SNVPathogenicrs878854491GRCh38Chr 2, 47377045: 47377045
148MSH2NM_ 000251.2(MSH2): c.1008delT (p.Gln337Lysfs)deletionPathogenicrs879253899GRCh37Chr 2, 47643500: 47643500
149MSH2NM_ 000251.2(MSH2): c.366+1G> ASNVPathogenic/ Likely pathogenicrs267607924GRCh37Chr 2, 47635695: 47635695
150MSH6NM_ 000179.2(MSH6): c.458-?_ 4001+?deldeletionPathogenicGRCh37Chr 2, 48023033: 48033790
151MSH2NM_ 000251.2(MSH2): c.-125_ 645+?deldeletionPathogenicGRCh37Chr 2, 47630206: 47637511
152PMS2NM_ 000535.6(PMS2): c.-87_ 537+?deldeletionPathogenic
153MSH2NM_ 000251.2(MSH2): c.-125_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630206: 47643568
154PMS2NM_ 000535.6(PMS2): c.164-?_ 2006+?deldeletionPathogenic
155PMS2NC_ 000007.14: g.(?_ 5986753)_ (6009025_ ?)deldeletionPathogenicGRCh38Chr 7, 5986753: 6009025
156MSH2NM_ 000251.2(MSH2): c.367-?_ 645+?deldeletionPathogenicGRCh37Chr 2, 47637233: 47637511
157MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?deldeletionPathogenicGRCh37Chr 2, 47656881: 47657080
158PMS2NM_ 000535.6(PMS2): c.989-?_ 1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
159MSH2NM_ 000251.2(MSH2): c.1387-?_ 1510+?deldeletionPathogenicGRCh37Chr 2, 47690170: 47690293
160PMS2NM_ 000535.6(PMS2): c.2276-?_ 2445+?deldeletionPathogenicGRCh38Chr 7, 5977588: 5977757
161MLH1NM_ 000249.3(MLH1): c.793C> T (p.Arg265Cys)SNVPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
162MLH1NM_ 000249.3(MLH1): c.1865T> A (p.Leu622His)SNVPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
163MLH1NM_ 000249.3(MLH1): c.1381A> T (p.Lys461Ter)SNVPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
164MLH1NM_ 000249.3(MLH1): c.298C> T (p.Arg100Ter)SNVPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
165MLH1NM_ 000249.3(MLH1): c.454-1G> ASNVPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
166MSH2NM_ 000251.2(MSH2): c.1030C> T (p.Gln344Ter)SNVPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
167MSH2NM_ 000251.2(MSH2): c.1705_ 1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
168MSH2NM_ 000251.2(MSH2): c.2038C> T (p.Arg680Ter)SNVPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
169MSH2NM_ 000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationPathogenic/ Likely pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
170MSH2NM_ 000251.2(MSH2): c.942+3A> TSNVPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
171MSH6NM_ 000179.2(MSH6): c.3699_ 3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
172MLH1NM_ 000249.3(MLH1): c.1219C> T (p.Gln407Ter)SNVPathogenic/ Likely pathogenicrs1057517541GRCh38Chr 3, 37025817: 37025817
173MSH6NM_ 000179.2(MSH6): c.908dupT (p.Met303Ilefs)duplicationPathogenic/ Likely pathogenicrs1057517551GRCh37Chr 2, 48026030: 48026030
174MSH6NM_ 000179.2(MSH6): c.3573dupT (p.Val1192Cysfs)duplicationPathogenicrs1057517764GRCh37Chr 2, 48032773: 48032773
175MLH1NM_ 000249.3(MLH1): c.699T> A (p.Cys233Ter)SNVPathogenicrs764085979GRCh38Chr 3, 37014453: 37014453
176MLH1NM_ 000249.3(MLH1): c.1853dupA (p.Ala619Glyfs)duplicationPathogenicGRCh38Chr 3, 37047640: 37047640
177MLH1NM_ 000249.3(MLH1): c.268delG (p.Asp90Ilefs)deletionPathogenicrs1060500688GRCh38Chr 3, 37001015: 37001015
178MLH1NM_ 000249.3(MLH1): c.390C> G (p.Tyr130Ter)SNVPathogenicrs1060500689GRCh38Chr 3, 37007000: 37007000
179MLH1NM_ 000249.3(MLH1): c.1072_ 1078delGAGATGG (p.Glu358Leufs)deletionPathogenicrs1060500692GRCh38Chr 3, 37025670: 37025676
180MLH1NM_ 000249.3(MLH1): c.1105dupT (p.Ser369Phefs)duplicationPathogenicGRCh38Chr 3, 37025703: 37025703
181MLH1NM_ 000249.3(MLH1): c.1043delT (p.Leu348Cysfs)deletionPathogenicrs1060500703GRCh38Chr 3, 37025641: 37025641
182MLH1NM_ 000249.3(MLH1): c.2136delG (p.Trp712Terfs)deletionPathogenicrs1060500706GRCh37Chr 3, 37092009: 37092009
183MLH1NM_ 000249.3(MLH1): c.1047dupA (p.Pro350Thrfs)duplicationPathogenicGRCh38Chr 3, 37025645: 37025645
184MLH1NM_ 000249.3(MLH1): c.129dupA (p.Ser44Ilefs)duplicationPathogenicGRCh38Chr 3, 36996631: 36996631
185MSH2NM_ 000251.2(MSH2): c.388C> T (p.Gln130Ter)SNVPathogenicrs1060501989GRCh38Chr 2, 47410115: 47410115
186MSH2NM_ 000251.2(MSH2): c.1667dupT (p.Leu556Phefs)duplicationPathogenicGRCh38Chr 2, 47470970: 47470970
187MSH2NM_ 000251.2(MSH2): c.87_ 90delGCCG (p.Thr31Profs)deletionPathogenicrs1060502000GRCh38Chr 2, 47403278: 47403281
188MSH2NM_ 000251.2(MSH2): c.85A> T (p.Lys29Ter)SNVPathogenicrs1060502001GRCh38Chr 2, 47403276: 47403276
189MSH2NM_ 000251.2(MSH2): c.830T> A (p.Leu277Ter)SNVPathogenicrs786203424GRCh38Chr 2, 47414306: 47414306
190MSH2NM_ 000251.2(MSH2): c.350G> A (p.Trp117Ter)SNVPathogenicrs786202083GRCh38Chr 2, 47408539: 47408539
191MSH2NM_ 000251.2(MSH2): c.510dupG (p.Arg171Glufs)duplicationPathogenicGRCh38Chr 2, 47410237: 47410237
192MSH2NM_ 000251.2(MSH2): c.1405delC (p.Val470Terfs)deletionPathogenicrs1060502027GRCh38Chr 2, 47463049: 47463049
193MSH2NM_ 000251.2(MSH2): c.1470_ 1473delGAAGinsAAA (p.Met492Cysfs)indelPathogenicrs1060502029GRCh37Chr 2, 47690253: 47690256
194MSH2NM_ 000251.2(MSH2): c.2161G> T (p.Gly721Ter)SNVPathogenicrs1060502032GRCh38Chr 2, 47476522: 47476522
195MSH2NM_ 000251.2(MSH2): c.1308dupT (p.Val437Cysfs)duplicationPathogenicGRCh38Chr 2, 47445579: 47445579
196MSH2NM_ 000251.2(MSH2): c.1796delT (p.Leu599Terfs)deletionPathogenicrs1060502039GRCh38Chr 2, 47475061: 47475061
197MSH6NM_ 000179.2(MSH6): c.2294dupG (p.Cys765Trpfs)duplicationPathogenicGRCh38Chr 2, 47800277: 47800277
198MSH6NM_ 000179.2(MSH6): c.442_ 443delTT (p.Leu148Lysfs)deletionPathogenicrs1060502875GRCh38Chr 2, 47791108: 47791109
199MSH6NM_ 000179.2(MSH6): c.2735G> A (p.Trp912Ter)SNVPathogenicrs1060502876GRCh38Chr 2, 47800718: 47800718
200MSH6NM_ 000179.2(MSH6): c.3577_ 3581delGAATT (p.Glu1193Lysfs)deletionPathogenicrs1060502881GRCh38Chr 2, 47805638: 47805642
201MSH6NM_ 000179.2(MSH6): c.3149delC (p.Ala1050Valfs)deletionPathogenicrs1060502882GRCh38Chr 2, 47801132: 47801132
202MSH6NM_ 000179.2(MSH6): c.3850_ 3857dupACGTTCCT (p.Tyr1287Argfs)duplicationPathogenicGRCh38Chr 2, 47806500: 47806507
203MSH6NM_ 000179.2(MSH6): c.1815_ 1816delTA (p.Lys606Asnfs)deletionPathogenicrs1060502886GRCh38Chr 2, 47799798: 47799799
204MSH6NM_ 000179.2(MSH6): c.873_ 874delCA (p.Asn291Lysfs)deletionPathogenicrs1060502888GRCh38Chr 2, 47798856: 47798857
205MSH6NM_ 000179.2(MSH6): c.2991delA (p.Lys997Asnfs)deletionPathogenicrs1060502890GRCh38Chr 2, 47800974: 47800974
206MSH6NM_ 000179.2(MSH6): c.3253delA (p.Thr1085Profs)deletionPathogenicrs1060502891GRCh38Chr 2, 47803500: 47803500
207MSH6NM_ 000179.2(MSH6): c.1572C> A (p.Tyr524Ter)SNVPathogenicrs587779215GRCh38Chr 2, 47799555: 47799555
208MSH6NM_ 000179.2(MSH6): c.261-3237_ 3735deldeletionPathogenicGRCh38Chr 2, 47787690: 47806292
209MSH6NM_ 000179.2(MSH6): c.1805C> A (p.Ser602Ter)SNVPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
210MSH6NM_ 000179.2(MSH6): c.3827_ 3830dupAAGA (p.Asp1277Glufs)duplicationPathogenicGRCh38Chr 2, 47806477: 47806480
211MSH6NM_ 000179.2(MSH6): c.2010delG (p.Leu671Terfs)deletionPathogenicrs1060502918GRCh38Chr 2, 47799993: 47799993
212MSH6NM_ 000179.2(MSH6): c.2550C> G (p.Tyr850Ter)SNVPathogenicrs374230313GRCh38Chr 2, 47800533: 47800533
213MSH6NM_ 000179.2(MSH6): c.3556+1G> ASNVPathogenicrs1060502926GRCh38Chr 2, 47805028: 47805028
214MSH6NM_ 000179.2(MSH6): c.741dupA (p.Arg248Thrfs)duplicationPathogenicGRCh38Chr 2, 47798724: 47798724
215MSH6NM_ 000179.2(MSH6): c.999delC (p.Lys334Argfs)deletionPathogenicrs1060502932GRCh38Chr 2, 47798982: 47798982
216MSH6NM_ 000179.2(MSH6): c.3973A> T (p.Lys1325Ter)SNVPathogenicrs1060502937GRCh38Chr 2, 47806623: 47806623
217MSH6NM_ 000179.2(MSH6): c.1333_ 1334delAG (p.Ser445Terfs)deletionPathogenicrs1060502940GRCh38Chr 2, 47799316: 47799317
218MSH6NM_ 000179.2(MSH6): c.896delA (p.Lys299Serfs)deletionPathogenicrs1060502941GRCh37Chr 2, 48026018: 48026018
219MSH6NM_ 000179.2(MSH6): c.1295_ 1296insAA (p.Phe432Leufs)insertionPathogenicrs1060502946GRCh38Chr 2, 47799278: 47799279
220PMS2NM_ 000535.6(PMS2): c.2192T> G (p.Leu731Ter)SNVPathogenicrs1060503110GRCh38Chr 7, 5978679: 5978679
221PMS2NM_ 000535.6(PMS2): c.779_ 780delCCinsAG (p.Ser260Ter)indelPathogenicrs730881920GRCh38Chr 7, 5997349: 5997350
222PMS2NM_ 000535.6(PMS2): c.859dupA (p.Arg287Lysfs)duplicationPathogenicGRCh38Chr 7, 5995578: 5995578
223PMS2NM_ 000535.6(PMS2): c.1864_ 1865delAT (p.Met622Glufs)deletionPathogenicrs1060503137GRCh38Chr 7, 5986900: 5986901
224PMS2NM_ 000535.6(PMS2): c.1891C> T (p.Gln631Ter)SNVPathogenicrs1060503138GRCh38Chr 7, 5986874: 5986874
225PMS2NM_ 000535.6(PMS2): c.686_ 687delCT (p.Ser229Cysfs)deletionPathogenicrs746766787GRCh38Chr 7, 5999126: 5999127
226PMS2NM_ 000535.6(PMS2): c.1348A> T (p.Lys450Ter)SNVPathogenicrs1060503142GRCh38Chr 7, 5987417: 5987417
227PMS2NM_ 000535.6(PMS2): c.129delA (p.Glu44Lysfs)deletionPathogenicrs1060503148GRCh37Chr 7, 6045557: 6045557
228PMS2NM_ 000535.6(PMS2): c.1912C> T (p.Gln638Ter)SNVPathogenicrs764342199GRCh38Chr 7, 5986853: 5986853
229PMS2NM_ 000535.6(PMS2): c.1653C> A (p.Cys551Ter)SNVPathogenicrs876659162GRCh38Chr 7, 5987112: 5987112
230MLH1NM_ 000249.3(MLH1): c.208-?_ 306+?deldeletionPathogenicGRCh38Chr 3, 37000955: 37001053
231MLH1NM_ 000249.3(MLH1): c.1410-?_ 1558+?deldeletionPathogenicGRCh37Chr 3, 37070275: 37070423
232MLH1NC_ 000003.12: g.(?_ 36996619)_ (37001053_ ?)deldeletionPathogenicGRCh38Chr 3, 36996619: 37001053
233MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37028932
234MLH1NM_ 000249.3(MLH1): c.1559-?_ 1667+?deldeletionPathogenicGRCh37Chr 3, 37081677: 37081785
235MSH2NM_ 000251.2(MSH2): c.1277-?_ 1661+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47466808
236MSH2NC_ 000002.12: g.(?_ 47403067)_ (47403402_ ?)deldeletionPathogenicGRCh37Chr 2, 47630206: 47630541
237MSH2NC_ 000002.12: g.(?_ 47412414)_ (47483228_ ?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710367
238MSH2NC_ 000002.12: g.(?_ 47403067)_ (47408555_ ?)deldeletionPathogenicGRCh38Chr 2, 47403067: 47408555
239MSH2NM_ 000251.2(MSH2): c.2006-?_ 2210+?deldeletionPathogenicGRCh37Chr 2, 47703506: 47703710
240MSH2NM_ 000251.2(MSH2): c.212-?_ 366+?deldeletionPathogenicGRCh38Chr 2, 47408401: 47408555
241MSH2NM_ 000251.2(MSH2): c.646-?_ 792+?deldeletionLikely pathogenicGRCh38Chr 2, 47412414: 47412560
242MSH2NC_ 000002.12: g.(?_ 47403067)_ (47483228_ ?)deldeletionPathogenicGRCh37Chr 2, 47630206: 47710367
243MSH6NC_ 000002.12: g.(?_ 47803420)_ (47805027_ ?)deldeletionPathogenicGRCh38Chr 2, 47803420: 47805027
244MSH6NC_ 000002.12: g.(?_ 47795894)_ (47805027_ ?)deldeletionPathogenicGRCh38Chr 2, 47795894: 47805027
245MSH6NC_ 000002.12: g.(?_ 47790927)_ (47801155_ ?)deldeletionPathogenicGRCh38Chr 2, 47790927: 47801155
246EPCAMNC_ 000002.12: g.(?_ 47369148)_ (47387028_ ?)deldeletionPathogenicGRCh37Chr 2, 47596287: 47614167
247EPCAMNC_ 000002.12: g.(?_ 47378953)_ (47387028_ ?)deldeletionPathogenicGRCh38Chr 2, 47378953: 47387028
248EPCAMNC_ 000002.12: g.(?_ 47377014)_ (47377077_ ?)deldeletionPathogenicGRCh37Chr 2, 47604153: 47604216
249PMS2NC_ 000007.14: g.(?_ 6003690)_ (6004058_ ?)deldeletionPathogenicGRCh37Chr 7, 6043321: 6043689
250PMS2NC_ 000007.14: g.(?_ 5991973)_ (6002636_ ?)deldeletionPathogenicGRCh37Chr 7, 6031604: 6042267
251PMS2NC_ 000007.14: g.(?_ 5991973)_ (6006031_ ?)deldeletionPathogenicGRCh38Chr 7, 5991973: 6006031
252PMS2NC_ 000007.14: g.(?_ 5997326)_ (6004058_ ?)deldeletionPathogenicGRCh37Chr 7, 6036957: 6043689
253PMS2NC_ 000007.14: g.(?_ 5991973)_ (6009106_ ?)deldeletionPathogenicGRCh38Chr 7, 5991973: 6009106
254PMS2NC_ 000007.14: g.(?_ 5991973)_ (5999275_ ?)deldeletionPathogenicGRCh37Chr 7, 6031604: 6038906
255MSH6NC_ 000002.12: g.(?_ 47790927)_ (47791123_ ?)deldeletionPathogenicGRCh37Chr 2, 48018066: 48018262
256MSH2NM_ 000251.2(MSH2): c.1277-?_ 2634+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47480871
257MSH2NM_ 000251.2(MSH2): c.367-?_ 1076+?deldeletionPathogenicGRCh38Chr 2, 47410094: 47416429
258MSH2NM_ 000251.2(MSH2): c.1277-?_ 1386+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47445657
259MSH6NM_ 000179.2(MSH6): c.3173-1G> CSNVPathogenic/ Likely pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
260MSH6NM_ 000179.2(MSH6): c.3991C> T (p.Arg1331Ter)SNVPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
261MSH6NM_ 000179.2(MSH6): c.(?_ -152)_ (*93_ ?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
262MSH6NM_ 000179.2(MSH6): c.(?_ -152)_ 457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
263MSH6NM_ 000179.2(MSH6): c.-11863_ 457+1921deldeletionPathogenicNCBI36Chr 2, 47852014: 47873687
264MSH6NM_ 000179.2(MSH6): c.-3097_ 457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
265MSH6NM_ 000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
266MSH6NM_ 000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
267MSH6NM_ 000179.2(MSH6): c.1135_ 1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
268MSH6NM_ 000179.2(MSH6): c.1139_ 1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
269MSH6NM_ 000179.2(MSH6): c.1190_ 1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
270MSH6NM_ 000179.2(MSH6): c.1193T> A (p.Val398Glu)SNVPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
271MSH6NM_ 000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
272MSH6NM_ 000179.2(MSH6): c.1299T> A (p.Tyr433Ter)SNVPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
273MSH6NM_ 000179.2(MSH6): c.1346T> C (p.Leu449Pro)SNVPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
274MSH6NM_ 000179.2(MSH6): c.1421_ 1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
275MSH6NM_ 000179.2(MSH6): c.1444C> T (p.Arg482Ter)SNVPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
276MSH6NM_ 000179.2(MSH6): c.1477G> T (p.Glu493Ter)SNVPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
277MSH6NM_ 000179.2(MSH6): c.1483C> T (p.Arg495Ter)SNVPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
278MSH6NM_ 000179.2(MSH6): c.1572C> G (p.Tyr524Ter)SNVPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
279MSH6NM_ 000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
280MSH6NM_ 000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
281MSH6NM_ 000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
282MSH6NM_ 000179.2(MSH6): c.1614_ 1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
283MSH6NM_ 000179.2(MSH6): c.1614_ 1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
284MSH6NM_ 000179.2(MSH6): c.1628_ 1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
285MSH6NM_ 000179.2(MSH6): c.1632_ 1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
286MSH6NM_ 000179.2(MSH6): c.1634_ 1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
287MSH6NM_ 000179.2(MSH6): c.1637_ 1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
288MSH6NM_ 000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
289MSH6NM_ 000179.2(MSH6): c.1806_ 1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
290MSH6NM_ 000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
291MSH6NM_ 000179.2(MSH6): c.1835C> A (p.Ser612Ter)SNVPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
292MSH6NM_ 000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
293MSH6NM_ 000179.2(MSH6): c.1901_ 1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
294MSH6NM_ 000179.2(MSH6): c.1957_ 1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
295MSH6NM_ 000179.2(MSH6): c.2045_ 2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
296MSH6NM_ 000179.2(MSH6): c.2050_ 2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
297MSH6NM_ 000179.2(MSH6): c.2061T> A (p.Cys687Ter)SNVPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
298MSH6NM_ 000179.2(MSH6): c.2062_ 2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
299MSH6NM_ 000179.2(MSH6): c.2105C> G (p.Ser702Ter)SNVPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
300MSH6NM_ 000179.2(MSH6): c.2127T> A (p.Tyr709Ter)SNVPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
301MSH6NM_ 000179.2(MSH6): c.2150_ 2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
302MSH6NM_ 000179.2(MSH6): c.2191C> T (p.Gln731Ter)SNVPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
303MSH6NM_ 000179.2(MSH6): c.2194C> T (p.Arg732Ter)SNVPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
304MSH6NM_ 000179.2(MSH6): c.2330G> A (p.Trp777Ter)SNVPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
305MSH6NM_ 000179.2(MSH6): c.2348_ 2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
306MSH6NM_ 000179.2(MSH6): c.2379_ 2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
307MSH6NM_ 000179.2(MSH6): c.2503C> T (p.Gln835Ter)SNVPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
308MSH6NM_ 000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
309MSH6NM_ 000179.2(MSH6): c.2569_ 2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
310MSH6NM_ 000179.2(MSH6): c.2611_ 2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
311MSH6NM_ 000179.2(MSH6): c.2672_ 2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
312MSH6NM_ 000179.2(MSH6): c.2714T> A (p.Leu905Ter)SNVPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
313MSH6NM_ 000179.2(MSH6): c.2719_ 2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
314MSH6NM_ 000179.2(MSH6): c.2731C> T (p.Arg911Ter)SNVPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
315MSH6NM_ 000179.2(MSH6): c.2764C> T (p.Arg922Ter)SNVPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
316MSH6NM_ 000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
317MSH6NM_ 000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
318MSH6NM_ 000179.2(MSH6): c.2815C> T (p.Gln939Ter)SNVPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
319MSH6NM_ 000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh37Chr 2, 48025773: 48025773
320MSH6NM_ 000179.2(MSH6): c.2851_ 2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
321MSH6NM_ 000179.2(MSH6): c.2931C> G (p.Tyr977Ter)SNVPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
322MSH6NM_ 000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
323MSH6NM_ 000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
324MSH6NM_ 000179.2(MSH6): c.2983G> T (p.Glu995Ter)SNVPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
325MSH6NM_ 000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
326MSH6NM_ 000179.2(MSH6): c.3013C> T (p.Arg1005Ter)SNVPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
327MSH6NM_ 000179.2(MSH6): c.3020G> A (p.Trp1007Ter)SNVPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
328MSH6NM_ 000179.2(MSH6): c.3053_ 3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
329MSH6NM_ 000179.2(MSH6): c.3067G> T (p.Glu1023Ter)SNVPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
330MSH6NM_ 000179.2(MSH6): c.3103C> T (p.Arg1035Ter)SNVPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
331MSH6NM_ 000179.2(MSH6): c.3119_ 3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
332MSH6NM_ 000179.2(MSH6): c.3155_ 3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
333MSH6NM_ 000179.2(MSH6): c.3172+1G> TSNVLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
334MSH6NM_ 000179.2(MSH6): c.3173-1_ 3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
335MSH6NM_ 000179.2(MSH6): c.3173-433_ 3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
336MSH6NM_ 000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
337MSH6NM_ 000179.2(MSH6): c.3195_ 3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
338MSH6NM_ 000179.2(MSH6): c.3198_ 3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
339MSH6NM_ 000179.2(MSH6): c.3202C> T (p.Arg1068Ter)SNVPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
340MSH6NM_ 000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
341MSH6NM_ 000179.2(MSH6): c.3259_ 3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
342MSH6NM_ 000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
343MSH6NM_ 000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
344MSH6NM_ 000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
345MSH6NM_ 000179.2(MSH6): c.3268_ 3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
346MSH6NM_ 000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
347MSH6NM_ 000179.2(MSH6): c.3311_ 3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
348MSH6NM_ 000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
349MSH6NM_ 000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
350MSH6NM_ 000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
351MSH6NM_ 000179.2(MSH6): c.3341_ 3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
352MSH6NM_ 000179.2(MSH6): c.3355G> T (p.Glu1119Ter)SNVPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
353MSH6NM_ 000179.2(MSH6): c.3367G> T (p.Glu1123Ter)SNVPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
354MSH6NM_ 000179.2(MSH6): c.3379_ 3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
355MSH6NM_ 000179.2(MSH6): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
356MSH6NM_ 000179.2(MSH6): c.3438+797_ 3438+798insTATins1839_ 3438+797insertionPathogenic
357MSH6NM_ 000179.2(MSH6): c.3439-1G> TSNVLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
358MSH6NM_ 000179.2(MSH6): c.3439-2A> GSNVLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
359MSH6NM_ 000179.2(MSH6): c.3487G> T (p.Glu1163Ter)SNVPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
360MSH6NM_ 000179.2(MSH6): c.3511_ 3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
361MSH6NM_ 000179.2(MSH6): c.3513_ 3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
362MSH6NM_ 000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
363MSH6NM_ 000179.2(MSH6): c.3516_ 3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
364MSH6NM_ 000179.2(MSH6): c.3519_ 3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
365MSH6NM_ 000179.2(MSH6): c.3519_ 3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
366MSH6NM_ 000179.2(MSH6): c.3557-?_ (*93_ ?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
367MSH6NM_ 000179.2(MSH6): c.3609_ 3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
368MSH6NM_ 000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
369MSH6NM_ 000179.2(MSH6): c.3647-1G> ASNVPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
370MSH6NM_ 000179.2(MSH6): c.3647-2A> CSNVPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
371MSH6NM_ 000179.2(MSH6): c.3678_ 3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
372MSH6NM_ 000179.2(MSH6): c.3725_ 3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
373MSH6NM_ 000179.2(MSH6): c.3729_ 3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
374MSH6NM_ 000179.2(MSH6): c.3757_ 3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
375MSH6NM_ 000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)SNVPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
376MSH6NM_ 000179.2(MSH6): c.3772C> T (p.Gln1258Ter)SNVPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
377MSH6NM_ 000179.2(MSH6): c.3798_ 3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
378MSH6NM_ 000179.2(MSH6): c.3799_ 3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
379MSH6NM_ 000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
380MSH6NM_ 000179.2(MSH6): c.3821_ 3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
381MSH6NM_ 000179.2(MSH6): c.3838C> T (p.Gln1280Ter)SNVPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
382MSH6NM_ 000179.2(MSH6): c.3840_ 3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
383MSH6NM_ 000179.2(MSH6): c.3847_ 3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
384MSH6NM_ 000179.2(MSH6): c.3887_ 3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
385MSH6NM_ 000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
386MSH6NM_ 000179.2(MSH6): c.3920_ 3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
387MSH6NM_ 000179.2(MSH6): c.3932_ 3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
388MSH6NM_ 000179.2(MSH6): c.3938_ 3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
389MSH6NM_ 000179.2(MSH6): c.3939_ 3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
390MSH6NM_ 000179.2(MSH6): c.3953_ 3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
391MSH6NM_ 000179.2(MSH6): c.3959_ 3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
392MSH6NM_ 000179.2(MSH6): c.3969_ 3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
393MSH6NM_ 000179.2(MSH6): c.3984_ 3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
394MSH6NM_ 000179.2 (MSH6): c.3984_ 3987dupGTCA (p.Leu1330Valfs)duplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
395MSH6NM_ 000179.2(MSH6): c.3996_ 4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
396MSH6NM_ 000179.2(MSH6): c.4001+2T> CSNVPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
397MSH6NM_ 000179.2(MSH6): c.4001G> A (p.Arg1334Gln)SNVPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
398MSH6NM_ 000179.2(MSH6): c.4002-31_ 4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
399MSH6NM_ 000179.2(MSH6): c.426G> A (p.Trp142Ter)SNVPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
400MSH6NM_ 000179.2(MSH6): c.457+2T> ASNVPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
401MSH6NM_ 000179.2(MSH6): c.458-?_ 627+?deldeletionPathogenic
402MSH6NM_ 000179.2(MSH6): c.467C> G (p.Ser156Ter)SNVPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
403MSH6NM_ 000179.2(MSH6): c.522_ 523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
404MSH6NM_ 000179.2(MSH6): c.599C> A (p.Ser200Ter)SNVPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
405MSH6NM_ 000179.2(MSH6): c.642C> A (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
406MSH6NM_ 000179.2(MSH6): c.642C> G (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
407MSH6NM_ 000179.2(MSH6): c.652A> T (p.Lys218Ter)SNVPathogenicrs587779315GRCh37Chr 2, 48025774: 48025774
408MSH6NM_ 000179.2(MSH6): c.694C> T (p.Gln232Ter)SNVPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
409MSH6NM_ 000179.2(MSH6): c.706C> T (p.Gln236Ter)SNVPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
410MSH6NM_ 000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
411MSH6NM_ 000179.2(MSH6): c.718C> T (p.Arg240Ter)SNVPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
412MSH6NM_ 000179.2(MSH6): c.730C> T (p.Gln244Ter)SNVPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
413MSH6NM_ 000179.2(MSH6): c.738_ 739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
414MSH6NM_ 000179.2(MSH6): c.742C> T (p.Arg248Ter)SNVPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
415MSH6NM_ 000179.2(MSH6): c.755C> G (p.Ser252Ter)SNVPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
416MSH6NM_ 000179.2(MSH6): c.762_ 763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
417MSH6NM_ 000179.2(MSH6): c.814G> T (p.Glu272Ter)SNVPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
418MSH6NM_ 000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
419MSH6NM_ 000179.2(MSH6): c.892C> T (p.Arg298Ter)SNVPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
420MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ (*193_ ?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
421MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
422MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
423MLH1MLH1: c.(?_ -198)_ 207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
424MLH1MLH1: c.(?_ -198)_ 306+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37001053
425MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
426MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
427MLH1NM_ 000249.3(MLH1): c.-381_ 207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
428MLH1NM_ 000249.3(MLH1): c.-54519_ 1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
429MLH1NM_ 000249.3(MLH1): c.-73960_ *46597deldeletionPathogenic
430MLH1NM_ 000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
431MLH1NM_ 000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
432MLH1NM_ 000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
433MLH1NM_ 000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
434MLH1NM_ 000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
435MLH1NM_ 000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
436MLH1NM_ 000249.3(MLH1): c.102_ 103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
437MLH1NM_ 000249.3(MLH1): c.1038G> A (p.Gln346=)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
438MLH1NM_ 000249.3(MLH1): c.1038G> C (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
439MLH1NM_ 000249.3(MLH1): c.1038G> T (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
440MLH1NM_ 000249.3(MLH1): c.1039-1G> ASNVPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
441MLH1NM_ 000249.3(MLH1): c.1039-2329_ 1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
442MLH1NM_ 000249.3(MLH1): c.1039-675_ 1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
443MLH1NM_ 000249.3(MLH1): c.1039-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
444MLH1NM_ 000249.3(MLH1): c.1039-?_ 1409+?deldeletionPathogenicGRCh37Chr 3, 37067128: 37067498
445MLH1NM_ 000249.3(MLH1): c.1039-?_ 1558+?deldeletionPathogenic
446MLH1NM_ 000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
447MLH1NM_ 000249.3(MLH1): c.104T> G (p.Met35Arg)SNVPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
448MLH1NM_ 000249.3(MLH1): c.104_ 105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
449MLH1NM_ 000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
450MLH1NM_ 000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
451MLH1NM_ 000249.3(MLH1): c.1071_ 1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
452MLH1NM_ 000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
453MLH1NM_ 000249.3(MLH1): c.109G> T (p.Glu37Ter)SNVPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
454MLH1NM_ 000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh37Chr 3, 37067190: 37067190
455MLH1NM_ 000249.3(MLH1): c.1128_ 1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
456MLH1NM_ 000249.3(MLH1): c.112A> C (p.Asn38His)SNVPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
457MLH1NM_ 000249.3(MLH1): c.1132_ 1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
458MLH1NM_ 000249.3(MLH1): c.113A> G (p.Asn38Ser)SNVPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
459MLH1NM_ 000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
460MLH1NM_ 000249.3(MLH1): c.114C> G (p.Asn38Lys)SNVPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
461MLH1NM_ 000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
462MLH1NM_ 000249.3(MLH1): c.116+5G> CSNVPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
463MLH1NM_ 000249.3(MLH1): c.1163_ 1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
464MLH1NM_ 000249.3(MLH1): c.116G> A (p.Cys39Tyr)SNVLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
465MLH1NM_ 000249.3(MLH1): c.117-691_ 306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
466MLH1NM_ 000249.3(MLH1): c.117-707_ 545+1338delinsTCCCGGGTTCAAGCGATTCTindelPathogenicGRCh37Chr 3, 37037403: 37051734
467MLH1NM_ 000249.3(MLH1): c.117-?_ 207+?deldeletionPathogenic
468MLH1NM_ 000249.3(MLH1): c.117-?_ 380+?deldeletionPathogenic
469MLH1NM_ 000249.3(MLH1): c.117-?_ 545+?deldeletionPathogenic
470MLH1NM_ 000249.3(MLH1): c.1171C> T (p.Gln391Ter)SNVPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
471MLH1NM_ 000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
472MLH1NM_ 000249.3(MLH1): c.1192C> T (p.Gln398Ter)SNVPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
473MLH1NM_ 000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
474MLH1NM_ 000249.3(MLH1): c.1210_ 1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
475MLH1NM_ 000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
476MLH1NM_ 000249.3(MLH1): c.1217_ 1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
477MLH1NM_ 000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
478MLH1NM_ 000249.3(MLH1): c.121G> C (p.Asp41His)SNVLikely pathogenicrs267607713GRCh37Chr 3, 37038114: 37038114
479MLH1NM_ 000249.3(MLH1): c.1225C> T (p.Gln409Ter)SNVPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
480MLH1NM_ 000249.3(MLH1): c.122A> G (p.Asp41Gly)SNVPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
481MLH1NM_ 000249.3(MLH1): c.1252_ 1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
482MLH1NM_ 000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
483MLH1NM_ 000249.3(MLH1): c.1276C> T (p.Gln426Ter)SNVPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
484MLH1NM_ 000249.3(MLH1): c.128_ 131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
485MLH1NM_ 000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
486MLH1NM_ 000249.3(MLH1): c.1325_ 1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
487MLH1NM_ 000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
488MLH1NM_ 000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
489MLH1NM_ 000249.3(MLH1): c.1347_ 1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
490MLH1NM_ 000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
491MLH1NM_ 000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
492MLH1NM_ 000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
493MLH1NM_ 000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
494MLH1NM_ 000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
495MLH1NM_ 000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
496MLH1NM_ 000249.3(MLH1): c.1380_ 1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
497MLH1NM_ 000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
498MLH1NM_ 000249.3(MLH1): c.1409+1127_ 1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
499MLH1NM_ 000249.3(MLH1): c.1409+1156_ 1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
500MLH1NM_ 000249.3(MLH1): c.1409+1G> ASNVLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
501MLH1NM_ 000249.3(MLH1): c.1409+1G> CSNVPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
502MLH1NM_ 000249.3(MLH1): c.1410-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
503MLH1NM_ 000249.3(MLH1): c.1410-?_ 1558+?deldeletionPathogenic
504MLH1NM_ 000249.3(MLH1): c.1410-?_ 1731+?deldeletionPathogenic
505MLH1NM_ 000249.3(MLH1): c.1411_ 1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
506MLH1NM_ 000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
507MLH1NM_ 000249.3(MLH1): c.1413_ 1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
508MLH1NM_ 000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
509MLH1NM_ 000249.3(MLH1): c.1415_ 1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
510MLH1NM_ 000249.3(MLH1): c.1415_ 1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
511MLH1NM_ 000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
512MLH1NM_ 000249.3(MLH1): c.142C> T (p.Gln48Ter)SNVPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
513MLH1NM_ 000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
514MLH1NM_ 000249.3(MLH1): c.1459C> T (p.Arg487Ter)SNVPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
515MLH1NM_ 000249.3(MLH1): c.1462A> T (p.Lys488Ter)SNVPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
516MLH1NM_ 000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
517MLH1NM_ 000249.3(MLH1): c.1464_ 1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
518MLH1NM_ 000249.3(MLH1): c.146T> A (p.Val49Glu)SNVPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
519MLH1NM_ 000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
520MLH1NM_ 000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
521MLH1NM_ 000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
522MLH1NM_ 000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
523MLH1NM_ 000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
524MLH1NM_ 000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
525MLH1NM_ 000249.3(MLH1): c.1528C> T (p.Gln510Ter)SNVPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
526MLH1NM_ 000249.3(MLH1): c.1534G> T (p.Glu512Ter)SNVPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
527MLH1NM_ 000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
528MLH1NM_ 000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
529MLH1NM_ 000249.3(MLH1): c.1549G> T (p.Gly517Ter)SNVPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
530MLH1NM_ 000249.3(MLH1): c.1552_ 1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
531MLH1NM_ 000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
532MLH1NM_ 000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
533MLH1NM_ 000249.3(MLH1): c.1557_ 1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
534MLH1NM_ 000249.3(MLH1): c.1558+1G> TSNVPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
535MLH1NM_ 000249.3(MLH1): c.1559-1322_ 1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
536MLH1NM_ 000249.3(MLH1): c.1559-1G> TSNVPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
537MLH1NM_ 000249.3(MLH1): c.1559-2A> CSNVLikely pathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
538MLH1NM_ 000249.3(MLH1): c.1559-2A> GSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
539MLH1NM_ 000249.3(MLH1): c.1559-2A> TSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
540MLH1NM_ 000249.3(MLH1): c.1559-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
541MLH1NM_ 000249.3(MLH1): c.1559-?_ 1667+?deldeletionPathogenic
542MLH1NM_ 000249.3(MLH1): c.1559-?_ 1731+?deldeletionPathogenic
543MLH1NM_ 000249.3(MLH1): c.155_ 158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
544MLH1NM_ 000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
545MLH1NM_ 000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
546MLH1NM_ 000249.3(MLH1): c.1572_ 1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
547MLH1NM_ 000249.3(MLH1): c.1573_ 1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
548MLH1NM_ 000249.3(MLH1): c.1574T> A (p.Leu525Ter)SNVPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
549MLH1NM_ 000249.3(MLH1): c.1588_ 1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
550MLH1NM_ 000249.3(MLH1): c.1592_ 1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
551MLH1NM_ 000249.3(MLH1): c.15_ 28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
552MLH1NM_ 000249.3(MLH1): c.1609C> T (p.Gln537Ter)SNVPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
553MLH1NM_ 000249.3(MLH1): c.1613G> A (p.Trp538Ter)SNVPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
554MLH1NM_ 000249.3(MLH1): c.1614G> A (p.Trp538Ter)SNVPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
555MLH1NM_ 000249.3(MLH1): c.161_ 164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
556MLH1NM_ 000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
557MLH1NM_ 000249.3(MLH1): c.1620_ 1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
558MLH1NM_ 000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
559MLH1NM_ 000249.3(MLH1): c.1624C> T (p.Gln542Ter)SNVPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
560MLH1NM_ 000249.3(MLH1): c.1639_ 1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
561MLH1NM_ 000249.3(MLH1): c.1640T> A (p.Leu547Ter)SNVPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
562MLH1NM_ 000249.3(MLH1): c.1644C> G (p.Tyr548Ter)SNVPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
563MLH1NM_ 000249.3(MLH1): c.1664_ 1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
564MLH1NM_ 000249.3(MLH1): c.1667+2_ 1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
565MLH1NM_ 000249.3(MLH1): c.1667G> T (p.Ser556Ile)SNVPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
566MLH1NM_ 000249.3(MLH1): c.1668-1G> ASNVLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
567MLH1NM_ 000249.3(MLH1): c.1668-?_ 1731+?deldeletionPathogenic
568MLH1NM_ 000249.3(MLH1): c.1668-?_ 1896+?deldeletionPathogenic
569MLH1NM_ 000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
570MLH1NM_ 000249.3(MLH1): c.1669G> T (p.Glu557Ter)SNVPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
571MLH1NM_ 000249.3(MLH1): c.1672G> T (p.Glu558Ter)SNVPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
572MLH1NM_ 000249.3(MLH1): c.1683C> G (p.Tyr561Ter)SNVPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
573MLH1NM_ 000249.3(MLH1): c.1684C> T (p.Gln562Ter)SNVPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
574MLH1NM_ 000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
575MLH1NM_ 000249.3(MLH1): c.1690_ 1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
576MLH1NM_ 000249.3(MLH1): c.1717_ 1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
577MLH1NM_ 000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
578MLH1NM_ 000249.3(MLH1): c.1731+1G> ASNVPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
579MLH1NM_ 000249.3(MLH1): c.1731+270_ 1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
580MLH1NM_ 000249.3(MLH1): c.1731+5G> ASNVPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
581MLH1NM_ 000249.3(MLH1): c.1731+768_ 1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
582MLH1NM_ 000249.3(MLH1): c.1731G> A (p.Ser577=)SNVPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
583MLH1NM_ 000249.3(MLH1): c.1732-1G> ASNVPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
584MLH1NM_ 000249.3(MLH1): c.1732-2243_ 1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
585MLH1NM_ 000249.3(MLH1): c.1732-2A> TSNVPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
586MLH1NM_ 000249.3(MLH1): c.1732-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
587MLH1NM_ 000249.3(MLH1): c.1732-?_ 1896+?deldeletionPathogenic
588MLH1NM_ 000249.3(MLH1): c.1732-?_ 2103+?deldeletionPathogenic
589MLH1NM_ 000249.3(MLH1): c.1745T> C (p.Leu582Pro)SNVPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
590MLH1NM_ 000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
591MLH1NM_ 000249.3(MLH1): c.1748_ 1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
592MLH1NM_ 000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
593MLH1NM_ 000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
594MLH1NM_ 000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
595MLH1NM_ 000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
596MLH1NM_ 000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
597MLH1NM_ 000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
598MLH1NM_ 000249.3(MLH1): c.1772_ 1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
599MLH1NM_ 000249.3(MLH1): c.1778_ 1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
600MLH1NM_ 000249.3(MLH1): c.1783_ 1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
601MLH1NM_ 000249.3(MLH1): c.1790G> A (p.Trp597Ter)SNVPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
602MLH1NM_ 000249.3(MLH1): c.1800_ 1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
603MLH1NM_ 000249.3(MLH1): c.1810A> T (p.Lys604Ter)SNVPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
604MLH1NM_ 000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
605MLH1NM_ 000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
606MLH1NM_ 000249.3(MLH1): c.1829_ 1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
607MLH1NM_ 000249.3(MLH1): c.1831_ 1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
608MLH1NM_ 000249.3(MLH1): c.184C> T (p.Gln62Ter)SNVPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
609MLH1NM_ 000249.3(MLH1): c.1852A> T (p.Lys618Ter)SNVPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
610MLH1NM_ 000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
611MLH1NM_ 000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
612MLH1NM_ 000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
613MLH1NM_ 000249.3(MLH1): c.1875T> G (p.Tyr625Ter)SNVPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
614MLH1NM_ 000249.3(MLH1): c.1877_ 1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
615MLH1NM_ 000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
616MLH1NM_ 000249.3(MLH1): c.1880_ 1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
617MLH1NM_ 000249.3(MLH1): c.1884_ 1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
618MLH1NM_ 000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
619MLH1NM_ 000249.3(MLH1): c.1896G> A (p.Glu632=)SNVPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
620MLH1NM_ 000249.3(MLH1): c.1897-2A> GSNVLikely pathogenicrs267607871GRCh37Chr 3, 37090006: 37090006
621MLH1NM_ 000249.3(MLH1): c.1897-?_ 1989+?deldeletionPathogenic
622MLH1NM_ 000249.3(MLH1): c.189C> A (p.Asp63Glu)SNVPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
623MLH1NM_ 000249.3(MLH1): c.18_ 34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
624MLH1NM_ 000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
625MLH1NM_ 000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh37Chr 3, 37090015: 37090015
626MLH1NM_ 000249.3(MLH1): c.190_ 191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
627MLH1NM_ 000249.3(MLH1): c.1913_ 1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
628MLH1NM_ 000249.3(MLH1): c.1914_ 1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
629MLH1NM_ 000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
630MLH1NM_ 000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
631MLH1NM_ 000249.3(MLH1): c.1920_ 1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
632MLH1NM_ 000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
633MLH1NM_ 000249.3(MLH1): c.1943C> T (p.Pro648Leu)SNVPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
634MLH1NM_ 000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
635MLH1NM_ 000249.3(MLH1): c.1953_ 1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
636MLH1NM_ 000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
637MLH1NM_ 000249.3(MLH1): c.1961C> T (p.Pro654Leu)SNVPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
638MLH1NM_ 000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
639MLH1NM_ 000249.3(MLH1): c.1975C> T (p.Arg659Ter)SNVPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
640MLH1NM_ 000249.3(MLH1): c.1975_ 1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
641MLH1NM_ 000249.3(MLH1): c.1976G> C (p.Arg659Pro)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
642MLH1NM_ 000249.3(MLH1): c.1976G> T (p.Arg659Leu)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
643MLH1NM_ 000249.3(MLH1): c.1976_ 1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
644MLH1NM_ 000249.3(MLH1): c.1986_ 1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
645MLH1NM_ 000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
646MLH1NM_ 000249.3(MLH1): c.1989+1G> ASNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
647MLH1NM_ 000249.3(MLH1): c.1989+1G> TSNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
648MLH1NM_ 000249.3(MLH1): c.1989G> T (p.Glu663Asp)SNVPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
649MLH1NM_ 000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
650MLH1NM_ 000249.3(MLH1): c.1990-1G> ASNVPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
651MLH1NM_ 000249.3(MLH1): c.1990-2A> GSNVPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
652MLH1NM_ 000249.3(MLH1): c.1990-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
653MLH1NM_ 000249.3(MLH1): c.1998G> A (p.Trp666Ter)SNVPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
654MLH1NM_ 000249.3(MLH1): c.199G> A (p.Gly67Arg)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
655MLH1NM_ 000249.3(MLH1): c.19_ 35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
656MLH1NM_ 000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
657MLH1NM_ 000249.3(MLH1): c.2006_ 2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
658MLH1NM_ 000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
659MLH1NM_ 000249.3(MLH1): c.2011G> T (p.Glu671Ter)SNVPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
660MLH1NM_ 000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
661MLH1NM_ 000249.3(MLH1): c.2035G> T (p.Glu679Ter)SNVPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
662MLH1NM_ 000249.3(MLH1): c.2038T> C (p.Cys680Arg)SNVLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
663MLH1NM_ 000249.3(MLH1): c.2040C> A (p.Cys680Ter)SNVPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
664MLH1NM_ 000249.3(MLH1): c.2059C> T (p.Arg687Trp)SNVPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
665MLH1NM_ 000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
666MLH1NM_ 000249.3(MLH1): c.2067_ 2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
667MLH1NM_ 000249.3(MLH1): c.207+1245_ 884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
668MLH1NM_ 000249.3(MLH1): c.207+1560_ 546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
669MLH1NM_ 000249.3(MLH1): c.207+1G> ASNVLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
670MLH1NM_ 000249.3(MLH1): c.2076_ 2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
671MLH1NM_ 000249.3(MLH1): c.2078_ 2172del (p.Glu693Alafs*8)deletionPathogenic
672MLH1NM_ 000249.3(MLH1): c.208-1714_ 306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
673MLH1NM_ 000249.3(MLH1): c.208-1G> ASNVPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
674MLH1NM_ 000249.3(MLH1): c.208-1_ 208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
675MLH1NM_ 000249.3(MLH1): c.208-2A> GSNVPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
676MLH1NM_ 000249.3(MLH1): c.208-?_ 306+?deldeletionPathogenic
677MLH1NM_ 000249.3(MLH1): c.208-?_ 453+?deldeletionPathogenic
678MLH1NM_ 000249.3(MLH1): c.208-?_ 545+?deldeletionPathogenic
679MLH1NM_ 000249.3(MLH1): c.208-?_ 790+?deldeletionPathogenic
680MLH1NM_ 000249.3(MLH1): c.2084C> A (p.Ser695Ter)SNVPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
681MLH1NM_ 000249.3(MLH1): c.2092_ 2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
682MLH1NM_ 000249.3(MLH1): c.2093C> G (p.Ser698Ter)SNVPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
683MLH1NM_ 000249.3(MLH1): c.2099_ 2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
684MLH1NM_ 000249.3(MLH1): c.2101C> T (p.Gln701Ter)SNVPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
685MLH1NM_ 000249.3(MLH1): c.2103+1G> ASNVPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
686MLH1NM_ 000249.3(MLH1): c.2103G> C (p.Gln701His)SNVPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
687MLH1NM_ 000249.3(MLH1): c.2104-2A> TSNVPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
688MLH1NM_ 000249.3(MLH1): c.2104-?_ *(193_ ?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
689MLH1NM_ 000249.3(MLH1): c.2104_ 2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
690MLH1NM_ 000249.3(MLH1): c.2105_ 2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
691MLH1NM_ 000249.3(MLH1): c.210_ 213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
692MLH1NM_ 000249.3(MLH1): c.2111_ 2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
693MLH1NM_ 000249.3(MLH1): c.211G> T (p.Glu71Ter)SNVPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
694MLH1NM_ 000249.3(MLH1): c.2135G> A (p.Trp712Ter)SNVPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
695MLH1NM_ 000249.3(MLH1): c.2136G> A (p.Trp712Ter)SNVPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
696MLH1NM_ 000249.3(MLH1): c.213_ 215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
697MLH1NM_ 000249.3(MLH1): c.2141G> A (p.Trp714Ter)SNVPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
698MLH1NM_ 000249.3(MLH1): c.2147_ 2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
699MLH1NM_ 000249.3(MLH1): c.2149_ 2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
700MLH1NM_ 000249.3(MLH1): c.2154_ 2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
701MLH1NM_ 000249.3(MLH1): c.2154_ 2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
702MLH1NM_ 000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
703MLH1NM_ 000249.3(MLH1): c.2163T> A (p.Tyr721Ter)SNVPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
704MLH1NM_ 000249.3(MLH1): c.2179_ 2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
705MLH1NM_ 000249.3(MLH1): c.2181_ 2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
706MLH1NM_ 000249.3(MLH1): c.2194A> T (p.Lys732Ter)SNVPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
707MLH1NM_ 000249.3(MLH1): c.2195_ 2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
708MLH1NM_ 000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
709MLH1NM_ 000249.3(MLH1): c.2221_ 2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
710MLH1NM_ 000249.3(MLH1): c.2223_ 2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
711MLH1NM_ 000249.3(MLH1): c.2224C> T (p.Gln742Ter)SNVPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
712MLH1NM_ 000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
713MLH1NM_ 000249.3(MLH1): c.2246T> C (p.Leu749Pro)SNVPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
714MLH1NM_ 000249.3(MLH1): c.2266_ 2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
715MLH1NM_ 000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
716MLH1NM_ 000249.3(MLH1): c.229T> C (p.Cys77Arg)SNVPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
717MLH1NM_ 000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
718MLH1NM_ 000249.3(MLH1): c.230G> A (p.Cys77Tyr)SNVPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
719MLH1NM_ 000249.3(MLH1): c.231_ 232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
720MLH1NM_ 000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
721MLH1NM_ 000249.3(MLH1): c.238T> G (p.Phe80Val)SNVPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
722MLH1NM_ 000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
723MLH1NM_ 000249.3(MLH1): c.245C> T (p.Thr82Ile)SNVPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
724MLH1NM_ 000249.3(MLH1): c.256C> T (p.Gln86Ter)SNVPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
725MLH1NM_ 000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
726MLH1NM_ 000249.3(MLH1): c.265G> T (p.Glu89Ter)SNVPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
727MLH1NM_ 000249.3(MLH1): c.2T> A (p.Met1Lys)SNVPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
728MLH1NM_ 000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
729MLH1NM_ 000249.3(MLH1): c.306+5G> ASNVPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
730MLH1NM_ 000249.3(MLH1): c.306G> C (p.Glu102Asp)SNVPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
731MLH1NM_ 000249.3(MLH1): c.307-1420_ 380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
732MLH1NM_ 000249.3(MLH1): c.307-1G> CSNVLikely pathogenicrs267607736GRCh37Chr 3, 37045891: 37045891
733MLH1NM_ 000249.3(MLH1): c.307-245_ 454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
734MLH1NM_ 000249.3(MLH1): c.307-797_ 677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
735MLH1NM_ 000249.3(MLH1): c.307-820_ 380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
736MLH1NM_ 000249.3(MLH1): c.307-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
737MLH1NM_ 000249.3(MLH1): c.307-?_ 545+?deldeletionPathogenic
738MLH1NM_ 000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
739MLH1NM_ 000249.3(MLH1): c.320T> G (p.Ile107Arg)SNVPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
740MLH1NM_ 000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
741MLH1NM_ 000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
742MLH1NM_ 000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
743MLH1NM_ 000249.3(MLH1): c.354_ 355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
744MLH1NM_ 000249.3(MLH1): c.367A> T (p.Lys123Ter)SNVPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
745MLH1NM_ 000249.3(MLH1): c.372_ 373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
746MLH1NM_ 000249.3(MLH1): c.378C> G (p.Tyr126Ter)SNVPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
747MLH1NM_ 000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
748MLH1NM_ 000249.3(MLH1): c.37G> T (p.Glu13Ter)SNVPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
749MLH1NM_ 000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
750MLH1NM_ 000249.3(MLH1): c.380+1G> ASNVLikely pathogenicrs267607745GRCh37Chr 3, 37045966: 37045966
751MLH1NM_ 000249.3(MLH1): c.380+2T> ASNVPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
752MLH1NM_ 000249.3(MLH1): c.381-415_ 453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
753MLH1NM_ 000249.3(MLH1): c.381-?_ 545+?deldeletionPathogenic
754MLH1NM_ 000249.3(MLH1): c.382G> C (p.Ala128Pro)SNVPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
755MLH1NM_ 000249.3(MLH1): c.382_ 402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
756MLH1NM_ 000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
757MLH1NM_ 000249.3(MLH1): c.385_ 386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
758MLH1NM_ 000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
759MLH1NM_ 000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
760MLH1NM_ 000249.3(MLH1): c.38_ 39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
761MLH1NM_ 000249.3(MLH1): c.392C> A (p.Ser131Ter)SNVPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
762MLH1NM_ 000249.3(MLH1): c.397G> T (p.Gly133Ter)SNVPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
763MLH1NM_ 000249.3(MLH1): c.39_ 40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
764MLH1NM_ 000249.3(MLH1): c.404_ 407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
765MLH1NM_ 000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
766MLH1NM_ 000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
767MLH1NM_ 000249.3(MLH1): c.436C> T (p.Gln146Ter)SNVPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
768MLH1NM_ 000249.3(MLH1): c.445C> T (p.Gln149Ter)SNVPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
769MLH1NM_ 000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
770MLH1NM_ 000249.3(MLH1): c.453+2T> CSNVPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
771MLH1NM_ 000249.3(MLH1): c.454-432_ 546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
772MLH1NM_ 000249.3(MLH1): c.454-466_ 546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
773MLH1NM_ 000249.3(MLH1): c.454-505_ 546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
774MLH1NM_ 000249.3(MLH1): c.454-665_ 545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
775MLH1NM_ 000249.3(MLH1): c.454-?_ 545+?deldeletionPathogenic
776MLH1NM_ 000249.3(MLH1): c.464T> G (p.Leu155Arg)SNVPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
777MLH1NM_ 000249.3(MLH1): c.468_ 469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
778MLH1NM_ 000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
779MLH1NM_ 000249.3(MLH1): c.497T> A (p.Leu166Ter)SNVPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
780MLH1NM_ 000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
781MLH1NM_ 000249.3(MLH1): c.502_ 503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
782MLH1NM_ 000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
783MLH1NM_ 000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
784MLH1NM_ 000249.3(MLH1): c.524_ 525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
785MLH1NM_ 000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
786MLH1NM_ 000249.3(MLH1): c.531_ 532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
787MLH1NM_ 000249.3(MLH1): c.531_ 532delGGinsCT (p.Leu177_ Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
788MLH1NM_ 000249.3(MLH1): c.544A> G (p.Arg182Gly)SNVPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
789MLH1NM_ 000249.3(MLH1): c.545+1G> ASNVLikely pathogenicrs267607765GRCh37Chr 3, 37050397: 37050397
790MLH1NM_ 000249.3(MLH1): c.545+3A> GSNVPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
791MLH1NM_ 000249.3(MLH1): c.545G> A (p.Arg182Lys)SNVPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
792MLH1NM_ 000249.3(MLH1): c.546-1G> ASNVLikely pathogenicrs587779022GRCh37Chr 3, 37053310: 37053310
793MLH1NM_ 000249.3(MLH1): c.546-2A> CSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
794MLH1NM_ 000249.3(MLH1): c.546-2A> GSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
795MLH1NM_ 000249.3(MLH1): c.546-361_ 885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
796MLH1NM_ 000249.3(MLH1): c.546-?_ 1409+?dupduplicationPathogenic
797MLH1NM_ 000249.3(MLH1): c.546-?_ 677+?deldeletionPathogenic
798MLH1NM_ 000249.3(MLH1): c.546-?_ 790+?deldeletionPathogenic
799MLH1NM_ 000249.3(MLH1): c.554T> G (p.Val185Gly)SNVPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
800MLH1NM_ 000249.3(MLH1): c.578C> G (p.Ser193Ter)SNVPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
801MLH1NM_ 000249.3(MLH1): c.586A> T (p.Lys196Ter)SNVPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
802MLH1NM_ 000249.3(MLH1): c.588+1G> TSNVPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
803MLH1NM_ 000249.3(MLH1): c.588+5G> ASNVPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
804MLH1NM_ 000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
805MLH1NM_ 000249.3(MLH1): c.589-2A> GSNVPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
806MLH1NM_ 000249.3(MLH1): c.597_ 598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
807MLH1NM_ 000249.3(MLH1): c.5C> A (p.Ser2Ter)SNVPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
808MLH1NM_ 000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
809MLH1NM_ 000249.3(MLH1): c.62C> A (p.Ala21Glu)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
810MLH1NM_ 000249.3(MLH1): c.632_ 633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
811MLH1NM_ 000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
812MLH1NM_ 000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
813MLH1NM_ 000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
814MLH1NM_ 000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
815MLH1NM_ 000249.3(MLH1): c.673_ 676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
816MLH1NM_ 000249.3(MLH1): c.677+1G> TSNVPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
817MLH1NM_ 000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
818MLH1NM_ 000249.3(MLH1): c.677+3A> GSNVPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
819MLH1NM_ 000249.3(MLH1): c.677G> A (p.Arg226Gln)SNVPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
820MLH1NM_ 000249.3(MLH1): c.677G> T (p.Arg226Leu)SNVLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
821MLH1NM_ 000249.3(MLH1): c.677_ 677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
822MLH1NM_ 000249.3(MLH1): c.678-1G> CSNVPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
823MLH1NM_ 000249.3(MLH1): c.678-3_ 678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
824MLH1NM_ 000249.3(MLH1): c.678-9_ 693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
825MLH1NM_ 000249.3(MLH1): c.678-?_ 1558+?deldeletionPathogenic
826MLH1NM_ 000249.3(MLH1): c.678-?_ 884+?deldeletionPathogenic
827MLH1NM_ 000249.3(MLH1): c.67G> T (p.Glu23Ter)SNVPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
828MLH1NM_ 000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
829MLH1NM_ 000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
830MLH1NM_ 000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
831MLH1NM_ 000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
832MLH1NM_ 000249.3(MLH1): c.727_ 730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
833MLH1NM_ 000249.3(MLH1): c.731G> A (p.Gly244Asp)SNVPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
834MLH1NM_ 000249.3(MLH1): c.731_ 734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
835MLH1NM_ 000249.3(MLH1): c.739T> C (p.Ser247Pro)SNVPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
836MLH1NM_ 000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
837MLH1NM_ 000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
838MLH1NM_ 000249.3(MLH1): c.76C> T (p.Gln26Ter)SNVPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
839MLH1NM_ 000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
840MLH1NM_ 000249.3(MLH1): c.779T> G (p.Leu260Arg)SNVPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
841MLH1NM_ 000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
842MLH1NM_ 000249.3(MLH1): c.790+1G> ASNVPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
843MLH1NM_ 000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
844MLH1NM_ 000249.3(MLH1): c.790+2T> CSNVPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
845MLH1NM_ 000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
846MLH1NM_ 000249.3(MLH1): c.791-1G> CSNVPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
847MLH1NM_ 000249.3(MLH1): c.791-2A> GSNVLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
848MLH1NM_ 000249.3(MLH1): c.791-4_ 795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
849MLH1NM_ 000249.3(MLH1): c.791-5T> GSNVPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
850MLH1NM_ 000249.3(MLH1): c.791-?_ 1558+?deldeletionPathogenic
851MLH1NM_ 000249.3(MLH1): c.791-?_ 884+?deldeletionPathogenic
852MLH1NM_ 000249.3(MLH1): c.791_ 794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
853MLH1NM_ 000249.3(MLH1): c.793C> A (p.Arg265Ser)SNVLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
854MLH1NM_ 000249.3(MLH1): c.808_ 811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
855MLH1NM_ 000249.3(MLH1): c.811_ 815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
856MLH1NM_ 000249.3(MLH1): c.821_ 824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
857MLH1NM_ 000249.3(MLH1): c.83C> T (p.Pro28Leu)SNVPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
858MLH1NM_ 000249.3(MLH1): c.840T> A (p.Tyr280Ter)SNVPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
859MLH1NM_ 000249.3(MLH1): c.842C> T (p.Ala281Val)SNVPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
860MLH1NM_ 000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
861MLH1NM_ 000249.3(MLH1): c.851T> A (p.Leu284Ter)SNVPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
862MLH1NM_ 000249.3(MLH1): c.856_ 857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
863MLH1NM_ 000249.3(MLH1): c.859_ 860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
864MLH1NM_ 000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
865MLH1NM_ 000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
866MLH1NM_ 000249.3(MLH1): c.866_ 867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
867MLH1NM_ 000249.3(MLH1): c.866_ 867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
868MLH1NM_ 000249.3(MLH1): c.86C> G (p.Ala29Gly)SNVPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
869MLH1NM_ 000249.3(MLH1): c.882C> T (p.Leu294=)SNVPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
870MLH1NM_ 000249.3(MLH1): c.883A> C (p.Ser295Arg)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
871MLH1NM_ 000249.3(MLH1): c.883A> G (p.Ser295Gly)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
872MLH1NM_ 000249.3(MLH1): c.884+4A> GSNVPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
873MLH1NM_ 000249.3(MLH1): c.884G> A (p.Ser295Asn)SNVPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
874MLH1NM_ 000249.3(MLH1): c.884_ 884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
875MLH1NM_ 000249.3(MLH1): c.885-206_ 997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
876MLH1NM_ 000249.3(MLH1): c.885-493_ 1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
877MLH1NM_ 000249.3(MLH1): c.885-594_ 1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
878MLH1NM_ 000249.3(MLH1): c.885-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
879MLH1NM_ 000249.3(MLH1): c.885-?_ 1038+?deldeletionPathogenic
880MLH1NM_ 000249.3(MLH1): c.885-?_ 1731+?deldeletionPathogenic
881MLH1NM_ 000249.3(MLH1): c.887T> G (p.Leu296Ter)SNVPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
882MLH1NM_ 000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
883MLH1NM_ 000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
884MLH1NM_ 000249.3(MLH1): c.889G> T (p.Glu297Ter)SNVPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
885MLH1NM_ 000249.3(MLH1): c.901C> T (p.Gln301Ter)SNVPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
886MLH1NM_ 000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
887MLH1NM_ 000249.3(MLH1): c.921_ 922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
888MLH1NM_ 000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
889MLH1NM_ 000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
890MLH1NM_ 000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
891MLH1NM_ 000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
892MLH1NM_ 000249.3(MLH1): c.955G> T (p.Glu319Ter)SNVPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
893MLH1NM_ 000249.3(MLH1): c.982C> T (p.Gln328Ter)SNVPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
894MLH1NM_ 000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
895MLH1NM_ 000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
896MSH2NM_ 000251.1(MSH2): c.(?_ -68)_ (*272_ ?)deldeletionPathogenic
897MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
898MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
899MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
900MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
901MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
902MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
903MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
904MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
905MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
906MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
907MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
908MSH2NM_ 000251.1(MSH2): c.-11844_ 1077-6021delins155indelPathogenic
909MSH2NM_ 000251.1(MSH2): c.-1753_ 645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
910MSH2NM_ 000251.1(MSH2): c.-35298_ 1276+5697deldeletionPathogenic
911MSH2NM_ 000251.1(MSH2): c.-47156_ 1277-4980deldeletionPathogenic
912MSH2NM_ 000251.1(MSH2): c.-4729_ 367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
913MSH2NM_ 000251.1(MSH2): c.-75398_ 1759+1708deldeletionPathogenic
914MSH2NM_ 000251.1(MSH2): c.-823_ 1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
915MSH2NM_ 000251.1(MSH2): c.-956_ 1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
916MSH2NM_ 000251.2(MSH2): c.1000A> T (p.Lys334Ter)SNVPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
917MSH2NM_ 000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
918MSH2NM_ 000251.2(MSH2): c.1009C> T (p.Gln337Ter)SNVPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
919MSH2NM_ 000251.2(MSH2): c.1013G> A (p.Gly338Glu)SNVPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
920MSH2NM_ 000251.2(MSH2): c.1017_ 1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
921MSH2NM_ 000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
922MSH2NM_ 000251.2(MSH2): c.1034G> A (p.Trp345Ter)SNVPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
923MSH2NM_ 000251.2(MSH2): c.1035G> A (p.Trp345Ter)SNVPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
924MSH2NM_ 000251.2(MSH2): c.1037_ 1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
925MSH2NM_ 000251.2(MSH2): c.1046C> T (p.Pro349Leu)SNVPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
926MSH2NM_ 000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
927MSH2NM_ 000251.2(MSH2): c.1075A> T (p.Arg359Ter)SNVPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
928MSH2NM_ 000251.2(MSH2): c.1076+1G> ASNVPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
929MSH2NM_ 000251.2(MSH2): c.1077-135_ 1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
930MSH2NM_ 000251.2(MSH2): c.1077-220_ 1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
931MSH2NM_ 000251.2(MSH2): c.1077-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
932MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?deldeletionPathogenic
933MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?dup200duplicationPathogenic
934MSH2NM_ 000251.2(MSH2): c.1077-?_ 1386+?deldeletionPathogenic
935MSH2NM_ 000251.2(MSH2): c.1077-?_ 1661+?deldeletionPathogenic
936MSH2NM_ 000251.2(MSH2): c.1077-?_ 2005+?deldeletionPathogenic
937MSH2NM_ 000251.2(MSH2): c.1077A> T (p.Arg359Ser)SNVPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
938MSH2NM_ 000251.2(MSH2): c.1077_ 1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
939MSH2NM_ 000251.2(MSH2): c.1097_ 1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
940MSH2NM_ 000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
941MSH2NM_ 000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
942MSH2NM_ 000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
943MSH2NM_ 000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
944MSH2NM_ 000251.2(MSH2): c.1120C> T (p.Gln374Ter)SNVPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
945MSH2NM_ 000251.2(MSH2): c.1127_ 1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
946MSH2NM_ 000251.2(MSH2): c.1129C> T (p.Gln377Ter)SNVPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
947MSH2NM_ 000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
948MSH2NM_ 000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
949MSH2NM_ 000251.2(MSH2): c.1147C> T (p.Arg383Ter)SNVPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
950MSH2NM_ 000251.2(MSH2): c.1165C> T (p.Arg389Ter)SNVPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
951MSH2NM_ 000251.2(MSH2): c.1183C> T (p.Gln395Ter)SNVPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
952MSH2NM_ 000251.2(MSH2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
953MSH2NM_ 000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
954MSH2NM_ 000251.2(MSH2): c.1196_ 1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
955MSH2NM_ 000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
956MSH2NM_ 000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
957MSH2NM_ 000251.2(MSH2): c.1204C> T (p.Gln402Ter)SNVPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
958MSH2NM_ 000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
959MSH2NM_ 000251.2(MSH2): c.1215C> A (p.Tyr405Ter)SNVPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
960MSH2NM_ 000251.2(MSH2): c.1216_ 1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
961MSH2NM_ 000251.2(MSH2): c.1221_ 1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
962MSH2NM_ 000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
963MSH2NM_ 000251.2(MSH2): c.1226_ 1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
964MSH2NM_ 000251.2(MSH2): c.1243_ 1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
965MSH2NM_ 000251.2(MSH2): c.1249_ 1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
966MSH2NM_ 000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
967MSH2NM_ 000251.2(MSH2): c.1255C> T (p.Gln419Ter)SNVPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
968MSH2NM_ 000251.2(MSH2): c.1264G> T (p.Glu422Ter)SNVPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
969MSH2NM_ 000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
970MSH2NM_ 000251.2(MSH2): c.1276+1G> ASNVPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
971MSH2NM_ 000251.1(MSH2): c.1276+232_ 1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
972MSH2NM_ 000251.2(MSH2): c.1277-2A> GSNVPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
973MSH2NM_ 000251.2(MSH2): c.1277-572_ 1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
974MSH2NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
975MSH2NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
976MSH2NM_ 000251.2(MSH2): c.1277-?_ 1386+?deldeletionPathogenic
977MSH2NM_ 000251.2(MSH2): c.1277-?_ 1661+?deldeletionPathogenic
978MSH2NM_ 000251.2(MSH2): c.1277-?_ 1759+?deldeletionPathogenic
979MSH2NM_ 000251.2(MSH2): c.1277-?_ 2634+?deldeletionPathogenic
980MSH2NM_ 000251.2(MSH2): c.1285C> T (p.Gln429Ter)SNVPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
981MSH2NM_ 000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
982MSH2NM_ 000251.2(MSH2): c.1288A> T (p.Lys430Ter)SNVPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
983MSH2NM_ 000251.2(MSH2): c.1292T> A (p.Leu431Ter)SNVPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
984MSH2NM_ 000251.2(MSH2): c.129T> G (p.Tyr43Ter)SNVPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
985MSH2NM_ 000251.2(MSH2): c.1311_ 1334del24insNM_ 000251.1: c.1338_ 1361inv24 (p.Thr438_ Ser445delinsPheSerLysPheGlnGluMetIle)indelPathogenicGRCh37Chr 2, 47672721: 47672744
986MSH2NM_ 000251.2(MSH2): c.1318_ 1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
987MSH2NM_ 000251.2(MSH2): c.1319T> C (p.Leu440Pro)SNVPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
988MSH2NM_ 000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
989MSH2NM_ 000251.2(MSH2): c.1340_ 1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
990MSH2NM_ 000251.2(MSH2): c.1345A> T (p.Lys449Ter)SNVPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
991MSH2NM_ 000251.2(MSH2): c.1345_ 1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
992MSH2NM_ 000251.2(MSH2): c.1352_ 1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
993MSH2NM_ 000251.2(MSH2): c.1354G> T (p.Glu452Ter)SNVPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
994MSH2NM_ 000251.2(MSH2): c.1358T> A (p.Met453Lys)SNVPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
995MSH2NM_ 000251.2(MSH2): c.136_ 164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
996MSH2NM_ 000251.2(MSH2): c.1373T> G (p.Leu458Ter)SNVPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
997MSH2NM_ 000251.2(MSH2): c.1386+1G> ASNVLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
998MSH2NM_ 000251.1(MSH2): c.1387-3976_ 1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
999MSH2NM_ 000251.2(MSH2): c.1387-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
1000MSH2NM_ 000251.2(MSH2): c.1387-?_ 1510+?deldeletionPathogenic
1001MSH2NM_ 000251.2(MSH2): c.1387-?_ 1661+?deldeletionPathogenic
1002MSH2NM_ 000251.2(MSH2): c.1387-?_ 1661+?dup275duplicationPathogenic
1003MSH2NM_ 000251.2(MSH2): c.1387-?_ 2458+?deldeletionPathogenic
1004MSH2NM_ 000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
1005MSH2NM_ 000251.2(MSH2): c.1399G> T (p.Glu467Ter)SNVPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
1006MSH2NM_ 000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
1007MSH2NM_ 000251.2(MSH2): c.1418C> G (p.Ser473Ter)SNVPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
1008MSH2NM_ 000251.2(MSH2): c.142G> T (p.Glu48Ter)SNVPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
1009MSH2NM_ 000251.2(MSH2): c.1433_ 1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
1010MSH2NM_ 000251.2(MSH2): c.1444A> T (p.Arg482Ter)SNVPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
1011MSH2NM_ 000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
1012MSH2NM_ 000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
1013MSH2NM_ 000251.2(MSH2): c.1445_ 1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
1014MSH2NM_ 000251.2(MSH2): c.1447G> T (p.Glu483Ter)SNVPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
1015MSH2NM_ 000251.2(MSH2): c.1447_ 1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
1016MSH2NM_ 000251.2(MSH2): c.1457_ 1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
1017MSH2NM_ 000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
1018MSH2NM_ 000251.2(MSH2): c.145_ 146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
1019MSH2NM_ 000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
1020MSH2NM_ 000251.2(MSH2): c.1476_ 1477delGCinsCT (p.Met492_ Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
1021MSH2NM_ 000251.2(MSH2): c.1477C> T (p.Gln493Ter)SNVPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
1022MSH2NM_ 000251.2(MSH2): c.1487T> A (p.Leu496Ter)SNVPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
1023MSH2NM_ 000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
1024MSH2NM_ 000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
1025MSH2NM_ 000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
1026MSH2NM_ 000251.2(MSH2): c.1511-2A> GSNVPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
1027MSH2NM_ 000251.2(MSH2): c.1511-?_ 2005+?deldeletionPathogenic
1028MSH2NM_ 000251.2(MSH2): c.1528C> T (p.Gln510Ter)SNVPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
1029MSH2NM_ 000251.2(MSH2): c.154_ 155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
1030MSH2NM_ 000251.2(MSH2): c.1552C> T (p.Gln518Ter)SNVPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
1031MSH2NM_ 000251.2(MSH2): c.1552_ 1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
1032MSH2NM_ 000251.2(MSH2): c.1566C> G (p.Tyr522Ter)SNVPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
1033MSH2NM_ 000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
1034MSH2NM_ 000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
1035MSH2NM_ 000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
1036MSH2NM_ 000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
1037MSH2NM_ 000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
1038MSH2NM_ 000251.2(MSH2): c.1638_ 1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh38Chr 2, 47466785: 47466786
1039MSH2NM_ 000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
1040MSH2NM_ 000251.2(MSH2): c.1660A> G (p.Ser554Gly)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1041MSH2NM_ 000251.2(MSH2): c.1660A> T (p.Ser554Cys)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1042MSH2NM_ 000251.2(MSH2): c.1661+1G> ASNVLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
1043MSH2NM_ 000251.2(MSH2): c.1661G> C (p.Ser554Thr)SNVPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
1044MSH2NM_ 000251.2(MSH2): c.1662-1G> ASNVPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
1045MSH2NM_ 000251.1(MSH2): c.1662-374_ 2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
1046MSH2NM_ 000251.2(MSH2): c.1662-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
1047MSH2NM_ 000251.2(MSH2): c.1662-?_ 1759+?deldeletionPathogenic
1048MSH2NM_ 000251.2(MSH2): c.1662-?_ 2458+?deldeletionPathogenic
1049MSH2NM_ 000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
1050MSH2NM_ 000251.2(MSH2): c.1667_ 1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
1051MSH2NM_ 000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
1052MSH2NM_ 000251.2(MSH2): c.166G> T (p.Glu56Ter)SNVPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
1053MSH2NM_ 000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
1054MSH2NM_ 000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
1055MSH2NM_ 000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
1056MSH2NM_ 000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
1057MSH2NM_ 000251.2(MSH2): c.1693A> T (p.Lys565Ter)SNVPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
1058MSH2NM_ 000251.2(MSH2): c.1696_ 1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
1059MSH2NM_ 000251.2(MSH2): c.1699A> T (p.Lys567Ter)SNVPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
1060MSH2NM_ 000251.2(MSH2): c.1700_ 1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
1061MSH2NM_ 000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
1062MSH2NM_ 000251.2(MSH2): c.1705_ 1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
1063MSH2NM_ 000251.2(MSH2): c.1705_ 1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
1064MSH2NM_ 000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
1065MSH2NM_ 000251.2(MSH2): c.1720C> T (p.Gln574Ter)SNVPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
1066MSH2NM_ 000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
1067MSH2NM_ 000251.2(MSH2): c.1738G> T (p.Glu580Ter)SNVPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
1068MSH2NM_ 000251.2(MSH2): c.1759+2T> ASNVPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
1069MSH2NM_ 000251.1(MSH2): c.1759+305_ 2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
1070MSH2NM_ 000251.2(MSH2): c.1759G> C (p.Gly587Arg)SNVPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
1071MSH2NM_ 000251.1(MSH2): c.1760-361_ 2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
1072MSH2NM_ 000251.2(MSH2): c.1760-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
1073MSH2NM_ 000251.2(MSH2): c.1760-?_ 2005+?deldeletionPathogenic
1074MSH2NM_ 000251.2(MSH2): c.1760-?_ 2210+?deldeletionPathogenic
1075MSH2NM_ 000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
1076MSH2NM_ 000251.2(MSH2): c.1764T> G (p.Tyr588Ter)SNVPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
1077MSH2NM_ 000251.2(MSH2): c.1771_ 1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
1078MSH2NM_ 000251.2(MSH2): c.1777C> T (p.Gln593Ter)SNVPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
1079MSH2NM_ 000251.2(MSH2): c.1779_ 1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
1080MSH2NM_ 000251.2(MSH2): c.1781_ 1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
1081MSH2NM_ 000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
1082MSH2NM_ 000251.2(MSH2): c.1788_ 1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
1083MSH2NM_ 000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
1084MSH2NM_ 000251.2(MSH2): c.181C> T (p.Gln61Ter)SNVPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
1085MSH2NM_ 000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
1086MSH2NM_ 000251.2(MSH2): c.1835C> G (p.Ser612Ter)SNVPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
1087MSH2NM_ 000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
1088MSH2NM_ 000251.2(MSH2): c.1857T> G (p.Tyr619Ter)SNVPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
1089MSH2NM_ 000251.2(MSH2): c.1858_ 1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
1090MSH2NM_ 000251.2(MSH2): c.1861C> T (p.Arg621Ter)SNVPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
1091MSH2NM_ 000251.2(MSH2): c.186_ 187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
1092MSH2NM_ 000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
1093MSH2NM_ 000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
1094MSH2NM_ 000251.2(MSH2): c.1885C> T (p.Gln629Ter)SNVPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
1095MSH2NM_ 000251.2(MSH2): c.1889_ 1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
1096MSH2NM_ 000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
1097MSH2NM_ 000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
1098MSH2NM_ 000251.2(MSH2): c.1924_ 1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
1099MSH2NM_ 000251.2(MSH2): c.1967_ 1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
1100MSH2NM_ 000251.2(MSH2): c.1968C> G (p.Tyr656Ter)SNVPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
1101MSH2NM_ 000251.2(MSH2): c.1980_ 1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1102MSH2NM_ 000251.2(MSH2): c.1982_ 1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1103MSH2NM_ 000251.2(MSH2): c.1984_ 1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1104MSH2NM_ 000251.2(MSH2): c.1986_ 1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1105MSH2NM_ 000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1106MSH2NM_ 000251.2(MSH2): c.1996_ 1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1107MSH2NM_ 000251.2(MSH2): c.2005+1G> ASNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1108MSH2NM_ 000251.2(MSH2): c.2005+1G> TSNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1109MSH2NM_ 000251.2(MSH2): c.2005+2T> CSNVPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1110MSH2NM_ 000251.2(MSH2): c.2006-?_ 2210+?deldeletionPathogenic
1111MSH2NM_ 000251.2(MSH2): c.2006G> T (p.Gly669Val)SNVPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1112MSH2NM_ 000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1113MSH2NM_ 000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1114MSH2NM_ 000251.2(MSH2): c.2021_ 2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1115MSH2NM_ 000251.2(MSH2): c.2035_ 2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1116MSH2NM_ 000251.2(MSH2): c.2046_ 2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1117MSH2NM_ 000251.2(MSH2): c.2047G> A (p.Gly683Arg)SNVPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1118MSH2NM_ 000251.2(MSH2): c.2048_ 2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1119MSH2NM_ 000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1120MSH2NM_ 000251.2(MSH2): c.2063T> G (p.Met688Arg)SNVPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1121MSH2NM_ 000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1122MSH2NM_ 000251.2(MSH2): c.2074_ 2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1123MSH2NM_ 000251.2(MSH2): c.2087C> T (p.Pro696Leu)SNVPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1124MSH2NM_ 000251.2(MSH2): c.2089T> C (p.Cys697Arg)SNVPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1125MSH2NM_ 000251.2(MSH2): c.2090G> T (p.Cys697Phe)SNVPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1126MSH2NM_ 000251.2(MSH2): c.2091T> A (p.Cys697Ter)SNVPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1127MSH2NM_ 000251.2(MSH2): c.2096C> G (p.Ser699Ter)SNVPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1128MSH2NM_ 000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1129MSH2NM_ 000251.1(MSH2): c.211+1566_ 1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1130MSH2NM_ 000251.2(MSH2): c.212-1G> ASNVPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1131MSH2NM_ 000251.2(MSH2): c.212-478T> GSNVPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1132MSH2NM_ 000251.2(MSH2): c.212-?_ 1076+?deldeletionPathogenic
1133MSH2NM_ 000251.2(MSH2): c.212-?_ 1276+?deldeletionPathogenic
1134MSH2NM_ 000251.2(MSH2): c.212-?_ 1386+?deldeletionPathogenic
1135MSH2NM_ 000251.2(MSH2): c.212-?_ 1510+?deldeletionPathogenic
1136MSH2NM_ 000251.2(MSH2): c.212-?_ 2458+?deldeletionPathogenic
1137MSH2NM_ 000251.2(MSH2): c.212-?_ 366+?deldeletionPathogenic
1138MSH2NM_ 000251.2(MSH2): c.212-?_ 645+?deldeletionPathogenic
1139MSH2NM_ 000251.2(MSH2): c.2131C> T (p.Arg711Ter)SNVPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1140MSH2NM_ 000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1141MSH2NM_ 000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1142MSH2NM_ 000251.2(MSH2): c.2152C> T (p.Gln718Ter)SNVPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1143MSH2NM_ 000251.2(MSH2): c.2160_ 2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1144MSH2NM_ 000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1145MSH2NM_ 000251.2(MSH2): c.2191G> T (p.Glu731Ter)SNVPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1146MSH2NM_ 000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1147MSH2NM_ 000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1148MSH2NM_ 000251.1(MSH2): c.2210+116_ 2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1149MSH2NM_ 000251.2(MSH2): c.2211-?_ 2458+?deldeletionPathogenic
1150MSH2NM_ 000251.2(MSH2): c.2228C> A (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1151MSH2NM_ 000251.2(MSH2): c.2228C> G (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1152MSH2NM_ 000251.2(MSH2): c.2228_ 2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1153MSH2NM_ 000251.2(MSH2): c.2231T> G (p.Leu744Ter)SNVPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1154MSH2NM_ 000251.2(MSH2): c.2237_ 2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1155MSH2NM_ 000251.2(MSH2): c.223_ 224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1156MSH2NM_ 000251.2(MSH2): c.2240_ 2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1157MSH2NM_ 000251.2(MSH2): c.2251G> A (p.Gly751Arg)SNVPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1158MSH2NM_ 000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1159MSH2NM_ 000251.2(MSH2): c.226C> T (p.Gln76Ter)SNVPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1160MSH2NM_ 000251.2(MSH2): c.2275G> T (p.Gly759Ter)SNVPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1161MSH2NM_ 000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1162MSH2NM_ 000251.2(MSH2): c.2291G> A (p.Trp764Ter)SNVPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1163MSH2NM_ 000251.2(MSH2): c.2292G> A (p.Trp764Ter)SNVPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1164MSH2NM_ 000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1165MSH2NM_ 000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1166MSH2NM_ 000251.2(MSH2): c.229_ 230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1167MSH2NM_ 000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1168MSH2NM_ 000251.2(MSH2): c.2334C> A (p.Cys778Ter)SNVPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1169MSH2NM_ 000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1170MSH2NM_ 000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1171MSH2NM_ 000251.2(MSH2): c.2360_ 2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1172MSH2NM_ 000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1173MSH2NM_ 000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1174MSH2NM_ 000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1175MSH2NM_ 000251.2(MSH2): c.2408_ 2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1176MSH2NM_ 000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1177MSH2NM_ 000251.2(MSH2): c.2422G> T (p.Glu808Ter)SNVPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1178MSH2NM_ 000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1179MSH2NM_ 000251.2(MSH2): c.2432T> G (p.Leu811Ter)SNVPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1180MSH2NM_ 000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1181MSH2NM_ 000251.2(MSH2): c.2446C> T (p.Gln816Ter)SNVPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1182MSH2NM_ 000251.2(MSH2): c.244A> T (p.Lys82Ter)SNVPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1183MSH2NM_ 000251.2(MSH2): c.2458+1G> ASNVLikely pathogenicrs267608010GRCh37Chr 2, 47705659: 47705659
1184MSH2NM_ 000251.2(MSH2): c.2459-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1185MSH2NM_ 000251.2(MSH2): c.2459-?_ 2634+?deldeletionPathogenic
1186MSH2NM_ 000251.2(MSH2): c.2466_ 2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1187MSH2NM_ 000251.2(MSH2): c.2470C> T (p.Gln824Ter)SNVPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1188MSH2NM_ 000251.2(MSH2): c.2485_ 2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1189MSH2NM_ 000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1190MSH2NM_ 000251.2(MSH2): c.2502_ 2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1191MSH2NM_ 000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1192MSH2NM_ 000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1193MSH2NM_ 000251.2(MSH2): c.2525_ 2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1194MSH2NM_ 000251.2(MSH2): c.2529_ 2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1195MSH2NM_ 000251.2(MSH2): c.2536C> T (p.Gln846Ter)SNVPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1196MSH2NM_ 000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1197MSH2NM_ 000251.2(MSH2): c.255_ 256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1198MSH2NM_ 000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1199MSH2NM_ 000251.2(MSH2): c.2575G> T (p.Glu859Ter)SNVPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1200MSH2NM_ 000251.2(MSH2): c.2579C> A (p.Ser860Ter)SNVPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1201MSH2NM_ 000251.2(MSH2): c.2581C> T (p.Gln861Ter)SNVPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1202MSH2NM_ 000251.2(MSH2): c.2593_ 2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1203MSH2NM_ 000251.2(MSH2): c.2620_ 2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1204MSH2NM_ 000251.2(MSH2): c.2622T> A (p.Tyr874Ter)SNVPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1205MSH2NM_ 000251.2(MSH2): c.2633_ 2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1206MSH2NM_ 000251.2(MSH2): c.2634+5G> CSNVPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1207MSH2NM_ 000251.2(MSH2): c.2634G> A (p.Glu878=)SNVPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1208MSH2NM_ 000251.2(MSH2): c.2635-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47709918: 47710360
1209MSH2NM_ 000251.2(MSH2): c.2635C> T (p.Gln879Ter)SNVPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1210MSH2NM_ 000251.2(MSH2): c.263_ 264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1211MSH2NM_ 000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1212MSH2NM_ 000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1213MSH2NM_ 000251.2(MSH2): c.2653C> T (p.Gln885Ter)SNVPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1214MSH2NM_ 000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1215MSH2NM_ 000251.2(MSH2): c.2740G> T (p.Glu914Ter)SNVPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1216MSH2NM_ 000251.2(MSH2): c.2785C> T (p.Arg929Ter)SNVPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1217MSH2NM_ 000251.2(MSH2): c.278_ 279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1218MSH2NM_ 000251.2(MSH2): c.289C> T (p.Gln97Ter)SNVPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1219MSH2NM_ 000251.2(MSH2): c.28C> T (p.Gln10Ter)SNVPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1220MSH2NM_ 000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1221MSH2NM_ 000251.2(MSH2): c.301G> T (p.Glu101Ter)SNVPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1222MSH2NM_ 000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1223MSH2NM_ 000251.2(MSH2): c.347_ 350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1224MSH2NM_ 000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1225MSH2NM_ 000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1226MSH2NM_ 000251.2(MSH2): c.363T> G (p.Tyr121Ter)SNVPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1227MSH2NM_ 000251.1(MSH2): c.367-371_ 646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1228MSH2NM_ 000251.1(MSH2): c.367-452_ 646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1229MSH2NM_ 000251.2(MSH2): c.367-480_ 645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1230MSH2NM_ 000251.1(MSH2): c.367-681_ 646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1231MSH2NM_ 000251.2(MSH2): c.367-?_ 1076+?deldeletionPathogenic
1232MSH2NM_ 000251.2(MSH2): c.367-?_ 1276+?deldeletionPathogenic
1233MSH2NM_ 000251.2(MSH2): c.367-?_ 1386+?deldeletionPathogenic
1234MSH2NM_ 000251.2(MSH2): c.367-?_ 1759+?deldeletionPathogenic
1235MSH2NM_ 000251.2(MSH2): c.367-?_ 645+?deldeletionPathogenic
1236MSH2NM_ 000251.2(MSH2): c.367-?_ 942+?deldeletionPathogenic
1237MSH2NM_ 000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1238MSH2NM_ 000251.2(MSH2): c.380_ 381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1239MSH2NM_ 000251.2(MSH2): c.387_ 388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1240MSH2NM_ 000251.2(MSH2): c.388_ 389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1241MSH2NM_ 000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1242MSH2NM_ 000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1243MSH2NM_ 000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1244MSH2NM_ 000251.2(MSH2): c.425C> G (p.Ser142Ter)SNVPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1245MSH2NM_ 000251.2(MSH2): c.472C> T (p.Gln158Ter)SNVPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1246MSH2NM_ 000251.2(MSH2): c.478C> T (p.Gln160Ter)SNVPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1247MSH2NM_ 000251.2(MSH2): c.484G> A (p.Gly162Arg)SNVPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1248MSH2NM_ 000251.2(MSH2): c.488T> A (p.Val163Asp)SNVPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1249MSH2NM_ 000251.2(MSH2): c.490G> A (p.Gly164Arg)SNVPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1250MSH2NM_ 000251.2(MSH2): c.506_ 509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1251MSH2NM_ 000251.2(MSH2): c.508C> T (p.Gln170Ter)SNVPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1252MSH2NM_ 000251.2(MSH2): c.511_ 583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1253MSH2NM_ 000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1254MSH2NM_ 000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1255MSH2NM_ 000251.2(MSH2): c.528_ 529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1256MSH2NM_ 000251.2(MSH2): c.529G> T (p.Glu177Ter)SNVPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1257MSH2NM_ 000251.2(MSH2): c.530_ 531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1258MSH2NM_ 000251.2(MSH2): c.547C> T (p.Gln183Ter)SNVPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1259MSH2NM_ 000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1260MSH2NM_ 000251.2(MSH2): c.560T> C (p.Leu187Pro)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1261MSH2NM_ 000251.2(MSH2): c.560T> G (p.Leu187Arg)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1262MSH2NM_ 000251.2(MSH2): c.571_ 573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1263MSH2NM_ 000251.2(MSH2): c.577C> T (p.Gln193Ter)SNVPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1264MSH2NM_ 000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1265MSH2NM_ 000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1266MSH2NM_ 000251.2(MSH2): c.595T> C (p.Cys199Arg)SNVPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1267MSH2NM_ 000251.2(MSH2): c.610G> T (p.Gly204Ter)SNVPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1268MSH2NM_ 000251.2(MSH2): c.613G> T (p.Glu205Ter)SNVPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1269MSH2NM_ 000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1270MSH2NM_ 000251.2(MSH2): c.638_ 639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1271MSH2NM_ 000251.2(MSH2): c.642_ 645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1272MSH2NM_ 000251.2(MSH2): c.643C> T (p.Gln215Ter)SNVPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1273MSH2NM_ 000251.2(MSH2): c.645+1G> ASNVPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1274MSH2NM_ 000251.2(MSH2): c.645+1G> TSNVLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1275MSH2NM_ 000251.1(MSH2): c.645+539_ 1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1276MSH2NM_ 000251.1(MSH2): c.645+791_ 1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1277MSH2NM_ 000251.1(MSH2): c.645+967_ 1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1278MSH2NM_ 000251.2(MSH2): c.646-3T> GSNVPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
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)SNVPathogenicrs587779170GRCh37Chr 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)SNVPathogenicrs587779173GRCh37Chr 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)SNVPathogenicrs63750488GRCh37Chr 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)SNVPathogenicrs63750881GRCh37Chr 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)SNVPathogenicrs63750347GRCh37Chr 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)deletionPathogenicrs587779179GRCh38Chr 2, 47412529: 47412529
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> ASNVPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1312MSH2NM_ 000251.1(MSH2): c.792+8_ 943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1313MSH2NM_ 000251.2(MSH2): c.793-6_ 942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1314MSH2NM_ 000251.2(MSH2): c.793-?_ 1076+?deldeletionPathogenic
1315MSH2NM_ 000251.2(MSH2): c.793-?_ 1276+?del484deletionPathogenic
1316MSH2NM_ 000251.2(MSH2): c.793-?_ 1386+?deldel594deletionPathogenic
1317MSH2NM_ 000251.2(MSH2): c.793-?_ 942+?deldeletionPathogenic
1318MSH2NM_ 000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1319MSH2NM_ 000251.2(MSH2): c.810_ 811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1320MSH2NM_ 000251.2(MSH2): c.811_ 814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1321MSH2NM_ 000251.2(MSH2): c.82G> T (p.Glu28Ter)SNVPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1322MSH2NM_ 000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1323MSH2NM_ 000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1324MSH2NM_ 000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1325MSH2NM_ 000251.2(MSH2): c.842C> A (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1326MSH2NM_ 000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1327MSH2NM_ 000251.2(MSH2): c.859G> T (p.Gly287Ter)SNVPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1328MSH2NM_ 000251.2(MSH2): c.862C> T (p.Gln288Ter)SNVPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1329MSH2NM_ 000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1330MSH2NM_ 000251.2(MSH2): c.868G> T (p.Glu290Ter)SNVPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1331MSH2NM_ 000251.2(MSH2): c.873_ 876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1332MSH2NM_ 000251.2(MSH2): c.881_ 882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1333MSH2NM_ 000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1334MSH2NM_ 000251.2(MSH2): c.892C> T (p.Gln298Ter)SNVPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1335MSH2NM_ 000251.2(MSH2): c.898_ 899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1336MSH2NM_ 000251.2(MSH2): c.901A> T (p.Lys301Ter)SNVPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1337MSH2NM_ 000251.2(MSH2): c.905T> A (p.Leu302Ter)SNVPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1338MSH2NM_ 000251.2(MSH2): c.915_ 922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1339MSH2NM_ 000251.2(MSH2): c.929T> C (p.Leu310Pro)SNVPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1340MSH2NM_ 000251.2(MSH2): c.942G> A (p.Gln314=)SNVPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1341MSH2NM_ 000251.2(MSH2): c.943-1G> CSNVLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1342MSH2NM_ 000251.1(MSH2): c.943-926_ 1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1343MSH2NM_ 000251.2(MSH2): c.943-?_ 1076+?deldeletionPathogenic
1344MSH2NM_ 000251.2(MSH2): c.94_ 103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1345MSH2NM_ 000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1346MSH2NM_ 000251.2(MSH2): c.970C> T (p.Gln324Ter)SNVPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1347MSH2NM_ 000251.2(MSH2): c.970_ 971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh37Chr 2, 47643462: 47643463
1348MSH2NM_ 000251.2(MSH2): c.970_ 971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1349MSH2NM_ 000251.1(MSH2): c.972_ 973insNM_ 002133.2: c.737-1292_ 737-1109insertionPathogenic
1350MSH2NM_ 000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1351PMS2NM_ 000535.5(PMS2): c.(?_ -87)_ (*160_ ?)deldeletionPathogenic
1352PMS2NM_ 000535.6(PMS2): c.(?_ -87)_ 1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1353PMS2NM_ 000535.6(PMS2): c.(?_ -87)_ 23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1354PMS2NM_ 000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1355PMS2NM_ 000535.6(PMS2): c.1112_ 1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1356PMS2NM_ 000535.6(PMS2): c.1144+2T> ASNVLikely pathogenicrs267608158GRCh37Chr 7, 6029429: 6029429
1357PMS2NM_ 000535.5(PMS2): c.1145-1350_ *20545deldeletionPathogenic
1358PMS2NM_ 000535.6(PMS2): c.1145-?_ 2174+?deldeletionPathogenic
1359PMS2NM_ 000535.6(PMS2): c.1145-?_ 2445+?deldeletionPathogenic
1360PMS2NM_ 000535.6(PMS2): c.1169_ 1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1361PMS2NM_ 000535.6(PMS2): c.1261C> T (p.Arg421Ter)SNVPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1362PMS2NM_ 000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1363PMS2NM_ 000535.5(PMS2): c.164-518_ 803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1364PMS2NM_ 000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1365PMS2NM_ 000535.6(PMS2): c.1738A> T (p.Lys580Ter)SNVPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1366PMS2NM_ 000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1367PMS2NM_ 000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1368PMS2NM_ 000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1369PMS2NM_ 000535.6(PMS2): c.1840A> T (p.Lys614Ter)SNVPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1370PMS2NM_ 000535.6(PMS2): c.1927C> T (p.Gln643Ter)SNVPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1371PMS2NM_ 000535.6(PMS2): c.1939A> T (p.Lys647Ter)SNVPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1372PMS2NM_ 000535.6(PMS2): c.2174+1G> ASNVPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1373PMS2NM_ 000535.6(PMS2): c.2192_ 2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1374PMS2NM_ 000535.6(PMS2): c.219_ 220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1375PMS2NM_ 000535.6(PMS2): c.2243_ 2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1376PMS2NM_ 000535.6(PMS2): c.2276-113_ 2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1377PMS2NM_ 000535.6(PMS2): c.2276-91_ 2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1378PMS2NM_ 000535.6(PMS2): c.2361_ 2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1379PMS2NM_ 000535.6(PMS2): c.24-12_ 107del96insAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1380PMS2NM_ 000535.6(PMS2): c.24-?_ 163+?deldeletionPathogenic
1381PMS2NM_ 000535.6(PMS2): c.354-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1382PMS2NM_ 000535.6(PMS2): c.354-?_ 803+?deldeletionPathogenic
1383PMS2NM_ 000535.6(PMS2): c.538-478_ 705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1384PMS2NM_ 000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1385PMS2NM_ 000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1386PMS2NM_ 000535.6(PMS2): c.697C> T (p.Gln233Ter)SNVPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1387PMS2NM_ 000535.6(PMS2): c.703C> T (p.Gln235Ter)SNVPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1388PMS2NM_ 000535.6(PMS2): c.706-?_ 803+?deldeletionPathogenic
1389PMS2NM_ 000535.6(PMS2): c.736_ 741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1390PMS2NM_ 000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1391PMS2NM_ 000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1392PMS2NM_ 000535.5(PMS2): c.804-60_ 804-59insJN866832.1insertionPathogenic
1393PMS2NM_ 000535.6(PMS2): c.804-?_ 2006+?deldeletionPathogenicGRCh38Chr 7, 5986759: 5995633
1394PMS2NM_ 000535.6(PMS2): c.804-?_ 903+?deldeletionPathogenic
1395PMS2NM_ 000535.6(PMS2): c.861_ 864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1396PMS2NM_ 000535.6(PMS2): c.862_ 863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1397PMS2NM_ 000535.6(PMS2): c.904-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1398PMS2NM_ 000535.6(PMS2): c.904-?_ 1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 5992057
1399PMS2NM_ 000535.6(PMS2): c.904-?_ 988+?deldeletionPathogenic
1400PMS2NM_ 000535.6(PMS2): c.943C> T (p.Arg315Ter)SNVPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1401PMS2NM_ 000535.6(PMS2): c.949C> T (p.Gln317Ter)SNVPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1402PMS2NM_ 000535.6(PMS2): c.989-296_ 1144+706deldeletionPathogenicGRCh38Chr 7, 5989094: 5990251
1403PMS2NM_ 000535.6(PMS2): c.989-2A> GSNVLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1404PMS2NM_ 000535.6(PMS2): c.989-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1405PMS2NM_ 000535.6(PMS2): c.400C> T (p.Arg134Ter)SNVPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1406PMS2NM_ 000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1407PMS2NM_ 000535.6(PMS2): c.2404C> T (p.Arg802Ter)SNVPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1408PMS2NM_ 000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh38Chr 7, 5989923: 5989923
1409PMS2NM_ 000535.6(PMS2): c.1882C> T (p.Arg628Ter)SNVPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1410PMS2NM_ 000535.6(PMS2): c.137G> T (p.Ser46Ile)SNVLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1411MSH6NM_ 000179.2(MSH6): c.3477C> A (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh37Chr 2, 48032087: 48032087
1412MSH6NM_ 000179.2(MSH6): c.3516_ 3517delAG (p.Arg1172Serfs)deletionPathogenicrs398123232GRCh37Chr 2, 48032126: 48032127

Copy number variations for Lynch Syndrome from CNVD:

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

Expression for genes affiliated with Lynch Syndrome

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Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for genes affiliated with Lynch Syndrome

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