Lynch Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

COCA1 MCID: LYN001 MIFTS: 69	Lynch Syndrome (COCA1) malady Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases
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Aliases & Classifications for Lynch Syndrome

Sources:
¹¹Disease Ontology, ¹³DISEASES, ²³GeneReviews, ²⁴GeneTests, ²⁵Genetics Home Reference, ²⁷GTR, ³⁹MeSH, ⁴⁵NCIt, ⁴⁸NIH Rare Diseases, ⁵⁰Novoseek, ⁶²SNOMED-CT, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
See all MalaCards sources

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:

HPO:

⁶⁴

Mortality/Aging: death in infancy, death in early adulthood

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:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology¹¹ DOID:3883

MeSH³⁹ D003123

SNOMED-CT⁶² 315058005

NCIt⁴⁵ C120083, C8494

UMLS⁶⁸ C0009405, C1333990

Summaries for Lynch Syndrome

Sources:
¹¹Disease Ontology, ²³GeneReviews, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁷¹Wikipedia
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	mismatch repair cancer syndrome	31.9	MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
2	colorectal cancer	29.6	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
3	tgbfr2-related lynch syndrome	11.8
4	mlh3-related lynch syndrome	11.8
5	mlh1-related lynch syndrome	11.7
6	msh2-related lynch syndrome	11.7
7	msh6-related lynch syndrome	11.7
8	pms2-related lynch syndrome	11.7
9	epcam-related lynch syndrome	11.7
10	pms1-related lynch syndrome	11.7
11	colorectal cancer, hereditary nonpolyposis, type 1	11.7
12	ovarian cancer	11.2
13	muir-torre syndrome	11.1
14	pancreatic cancer	11.1
15	gastric cancer	11.1
16	duodenum cancer	10.8
17	familial stomach cancer	10.8
18	endometrial cancer	10.4
19	cask-related disorders	10.4	MSH6, PMS2
20	benign fibrous mesothelioma	10.4	MLH1, MSH2, MSH6
21	scarlet fever	10.4	BRAF, MSH2, TP53
22	trypanosomiasis	10.4	MLH1, MSH3, MSH6
23	spondylarthropathy	10.4	BRAF, CDKN2A, TP53
24	large intestine adenoma	10.4	MLH1, MSH2, MSH6, PMS2
25	neurofibromatosis-noonan syndrome	10.4	MLH1, MSH2, MSH6, PMS2
26	htr2a-related altered drug metabolism	10.4	APC, MLH1, MUTYH
27	churg-strauss syndrome	10.4	MLH1, MSH2, MSH6, PMS1
28	clear cell adenofibroma	10.4	CDKN2A, TP53
29	hereditary sensory and autonomic neuropathy with deafness and global delay	10.4	APC, MLH1, MUTYH
30	well-differentiated thymic neuroendocrine carcinoma	10.3	BRAF, TP53
31	lacrimal gland adenoid cystic carcinoma	10.3	CDKN2A, TP53
32	pancreatic invasive mucinous cystadenocarcinoma	10.3	BRCA2, CDKN2A, PMS2
33	malignant spindle cell melanoma	10.3	MLH1, MSH2, TP53
34	skin papilloma	10.3	MLH1, MSH2, MSH6
35	seborrheic dermatitis	10.3	MLH1, MSH2, MSH6, PMS2
36	inhibited male orgasm	10.3	BRAF, KRAS, TP53
37	postpoliomyelitis syndrome	10.3	CDKN2A, KRAS, TP53
38	neuroretinitis	10.3	KRAS, MLH1, MSH2, MSH6
39	endometrial squamous cell carcinoma	10.3	APC, CDKN2A, MLH1, TP53
40	submucosal invasive colon adenocarcinoma	10.3	APC, BRCA2, TP53
41	autoimmune autonomic ganglionopathy	10.3	APC, MSH2, MSH6, MUTYH
42	ossifying fibromyxoid tumor	10.3	CDKN2A, KRAS, TP53
43	lattice corneal dystrophy	10.3	BRAF, CDKN2A, MLH1, TP53
44	aicardi-goutieres syndrome	10.3	CDKN2A, KRAS, TP53
45	cauda equina neoplasm	10.3	MLH1, MSH2, MSH6, PMS1, PMS2
46	tamoxifen-related endometrial lesion	10.3	CDKN2A, KRAS, TP53
47	allergic contact dermatitis	10.3	CDKN2A, KRAS, MLH1, TP53
48	myxedema	10.3	CDKN2A, KRAS, TP53
49	prostatic adenoma	10.3	CDKN2A, KRAS, MLH1, TP53
50	basophilic carcinoma	10.3	EPCAM, KRAS, TP53

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

Symptoms & Phenotypes for Lynch Syndrome

Sources:
²⁶GenomeRNAi, ⁴¹MGI, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Human phenotypes related to Lynch Syndrome:

⁶⁴ (show all 47)

id	Description	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

id	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	10.3	APC, BRAF, BRCA1, BRCA2, MSH2
2	Decreased viability	GR00381-A-1	9.9	BRAF, BRCA1, KRAS, MLH3, MSH2, PMS1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-192	9.5	EPCAM, KRAS, LRRFIP2, MSH2, PMS2, POLE
4	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.0	BRAF, BRCA1, BRCA2, EXO1, MLH1, MLH3
5	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	8.1	BRAF, BRCA1, BRCA2, CDKN2A, EXO1, MLH1

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

⁴¹ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	9.9	APC, BRAF, BRCA1, CDKN2A, KRAS, TP53
2	embryo	MP:0005380	9.3	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
3	reproductive system	MP:0005389	8.9	APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1
4	digestive/alimentary	MP:0005381	8.7	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
5	immune system	MP:0005387	8.6	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
6	endocrine/exocrine gland	MP:0005379	8.6	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
7	hematopoietic system	MP:0005397	8.5	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
8	integument	MP:0010771	8.4	APC, BRAF, BRCA1, BRCA2, CDKN2A, KRAS
9	cellular	MP:0005384	8.3	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
10	neoplasm	MP:0002006	8.2	APC, BRAF, BRCA1, BRCA2, CDKN2A, EXO1
11	homeostasis/metabolism	MP:0005376	8.2	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM
12	mortality/aging	MP:0010768	7.9	APC, BRAF, BRCA1, BRCA2, CDKN2A, EPCAM

Drugs & Therapeutics for Lynch Syndrome

Sources:
¹BitterDB, ⁴ClinicalTrials, ⁷Cochrane Library, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁴⁶NDF-RT, ⁵⁰Novoseek, ⁵⁶PharmGKB, ⁶⁸UMLS
See all MalaCards sources

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

(show top 50) (show all 79)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Levonorgestrel

approved, investigational

Phase 3, Phase 2

301

797-63-7, 17489-40-6

13109

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

Bevacizumab

approved, investigational

Phase 3, Phase 1

2020

216974-75-3

Synonyms:

216974-75-3

Avastin

Avastin (TN)

Bevacizumab

Bevacizumab (genetical recombination)

Bevacizumab (genetical recombination) (JAN)

D06409

R-435

anti-VEGF monoclonal antibody

antiVEGF

bevacizumab

Loperamide

approved

Phase 3

145

53179-11-6

3955

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

Fluorouracil

approved

Phase 3

1856

51-21-8

3385

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

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

Levoleucovorin

approved

Phase 3

728

68538-85-2

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

Oxaliplatin

approved, investigational

Phase 3

1460

61825-94-3

5310940, 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

Aspirin

approved, vet_approved

Phase 3

1152

50-78-2

2244

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

leucovorin

approved, Nutraceutical

Phase 3

3235

58-05-9

54575, 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

Folic Acid

approved, nutraceutical, vet_approved

Phase 3

4392

59-30-3

6037

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

Angiogenesis Modulating Agents

Phase 3, Phase 1

4185

Analgesics

Phase 3, Phase 2, Phase 1

11733

Angiogenesis Inhibitors

Phase 3, Phase 1

4257

Analgesics, Non-Narcotic

Phase 3, Phase 2, Phase 1

6501

Mitogens

Phase 3, Phase 1

1617

Anti-Inflammatory Agents

Phase 3, Phase 2, Phase 1

10729

Contraceptives, Oral

Phase 3, Phase 2

1327

Contraceptive Agents

Phase 3, Phase 2

1967

Cyclooxygenase Inhibitors

Phase 3, Phase 2, Phase 1

2870

Antirheumatic Agents

Phase 3, Phase 2, Phase 1

10956

Anti-Inflammatory Agents, Non-Steroidal

Phase 3, Phase 2, Phase 1

4443

Peripheral Nervous System Agents

Phase 3, Phase 2, Phase 1

23689

Endothelial Growth Factors

Phase 3, Phase 1

382

Antibodies

Phase 3, Phase 2

6394

Antidiarrheals

Phase 3

145

Vitamins

Phase 3

5282

Gastrointestinal Agents

Phase 3

8402

Immunoglobulins

Phase 3, Phase 2

6394

Antimetabolites

Phase 3

12054

Immunoglobulin G

Phase 3

275

Calcium, Dietary

Phase 3

5713

Bone Density Conservation Agents

Phase 3

3376

Antibodies, Monoclonal

Phase 3, Phase 2

4039

Immunosuppressive Agents

Phase 3

13086

Micronutrients

Phase 3

6001

Vitamin B Complex

Phase 3

4337

Trace Elements

Phase 3

6001

Antimetabolites, Antineoplastic

Phase 3

7361

Antidotes

Phase 3

1071

Hematinics

Phase 3

1684

Protective Agents

Phase 3

7443

Platelet Aggregation Inhibitors

Phase 3

2516

Acetylsalicylic acid lysinate

Phase 3

Antipyretics

Phase 3

1605

Fibrinolytic Agents

Phase 3

2388

Cola

Nutraceutical

Phase 3, Phase 2, Phase 1

1946

Folate

Nutraceutical

Phase 3

4392

Vitamin B9

Nutraceutical

Phase 3

4392

Medroxyprogesterone acetate

approved, investigational

Phase 2

148

71-58-9

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

Celecoxib

approved, investigational

Phase 2, Phase 1

444

169590-42-5

2662

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

Ethinyl Estradiol

approved

Phase 2

728

57-63-6

5991

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(sub 2)

EE2

EINECS 200-342-2

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)

id	Name	Status	NCT ID	Phase
1	Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies	Recruiting	NCT02263365	Phase 3
2	Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer	Active, not recruiting	NCT00217737	Phase 3
3	Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome	Not yet recruiting	NCT02813824	Phase 3
4	Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers	Not yet recruiting	NCT02497820	Phase 3
5	Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite Instability	Not yet recruiting	NCT02912559	Phase 3
6	Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma	Not yet recruiting	NCT02502370	Phase 3
7	Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome	Terminated	NCT00566644	Phase 3
8	CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome	Completed	NCT00224601	Phase 2
9	Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer	Completed	NCT00033358	Phase 2
10	Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI	Active, not recruiting	NCT01885702	Phase 1, Phase 2
11	Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers	Active, not recruiting	NCT00503035	Phase 2
12	Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome	Not yet recruiting	NCT03070574	Phase 2
13	Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers	Not yet recruiting	NCT02978625	Phase 2
14	Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis	Terminated	NCT00033371	Phase 2
15	Phase 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 Carriers	Completed	NCT00001693	Phase 1
16	Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW	Completed	NCT02113202	Phase 1
17	Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis	Completed	NCT00685568	Phase 1
18	Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome	Recruiting	NCT02052908	Phase 1
19	A Social Media Approach to Improve Genetic Risk Communication Phase I	Active, not recruiting	NCT01645904	Phase 1
20	Implementation of Guidelines on Hereditary or Familial Colorectal Cancer	Unknown status	NCT00929097
21	Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer	Unknown status	NCT00675636
22	Implementation of a New Strategy to Identify HNPCC Patients	Unknown status	NCT00141466
23	I-Scan For Colon Polyp Detection In HNPCC	Unknown status	NCT01823471
24	Hypodontia and Ovarian Cancer	Unknown status	NCT01470235
25	Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer	Unknown status	NCT00516230
26	Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance	Completed	NCT00313755
27	Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients	Completed	NCT00582452
28	Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients	Completed	NCT00508846
29	Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer	Completed	NCT00004210
30	Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer	Completed	NCT00450424
31	Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome	Completed	NCT00905710
32	Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer	Completed	NCT00341575
33	Uncertain Genetic Test Results for Lynch Syndrome	Completed	NCT01646112
34	Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome	Completed	NCT00898768	Early Phase 1
35	Molecular Screening for Lynch Syndrome in Southern Denmark	Completed	NCT01216930
36	Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting	Completed	NCT01582841
37	Telemedicine vs. Face-to-Face Cancer Genetic Counseling	Completed	NCT00609505
38	Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time	Completed	NCT02196402
39	Combined Colon and Endometrial Cancer Screening in Women With HNPCC	Completed	NCT00510796
40	Oligogenic Determinism of Colorectal Cancer	Completed	NCT01057953
41	Qigong For Treatment Of Fibromyalgia	Completed	NCT00938834
42	What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate?	Completed	NCT01692977
43	Survivorship in Lynch Syndrome Families	Recruiting	NCT01126840
44	Registry for Women Who Are At Risk Or May Have Lynch Syndrome	Recruiting	NCT00508573
45	High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome.	Recruiting	NCT02951390
46	Multi-Organ Screening Recommendations in Patients With Lynch Syndrome	Recruiting	NCT00582296
47	The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)	Recruiting	NCT01447199
48	Ohio Colorectal Cancer Prevention Initiative	Recruiting	NCT01850654
49	NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome	Recruiting	NCT02570516
50	The Cancer of the Pancreas Screening-5 CAPS5)Study	Recruiting	NCT02000089

Search NIH Clinical Center for Lynch Syndrome

Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Genetic Tests for Lynch Syndrome

Sources:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

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

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Lynch Syndrome:

³⁶

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

Publications for Lynch Syndrome

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Lynch Syndrome:

(show top 50) (show all 729)

id	Title	Authors	Year
1	Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years. (28498244)	Anagnostopoulos A.... Kirwan J.	2017
2	Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. (28466842)	Haraldsdottir S.... Stefansson K.	2017
3	Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. (28489507)	Kastrinos F.... Syngal S.	2017
4	Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. (28481244)	Liccardo R.... Duraturo F.	2017
5	Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. (28065618)	Ryan N.A.... Crosbie E.J.	2017
6	Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome. (28471861)	Carnevali I.... Tibiletti M.G.	2017
7	A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). (28460341)	Zhu V.W.... DeLozier C.D.	2017
8	The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis. (28508326)	Donald N.... Monahan K.J.	2017
9	Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. (28422960)	Nielsen S.V.... Hartmann-Petersen R.	2017
10	Early gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome. (28501935)	McKnight T.F.P.... Wilcox R.	2017
11	Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. (28531214)	Houlleberghs H.... te Riele H.	2017
12	Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: A systematic review and meta-analysis. (28407411)	Anele C.C.... Faiz O.D.	2017
13	Approach to Lynch Syndrome for the Gastroenterologist. (27990589)	Bui Q.M.... Ho W.	2017
14	General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey. (28434157)	Smith S.G.... Cuzick J.	2017
15	Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study. (28525912)	Rossi L.... Bats A.S.	2017
16	AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). (28510097)	Zeimet A.G.... Marth C.	2017
17	Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome. (28059909)	Herzig D.O.... Steele S.R.	2017
18	A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. (28059100)	Adar T.... Chung D.C.	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)	Aaltonen M.H.... MAoenpAoAo J.U.	2017
20	Lynch Syndrome and Endometrial Cancer. (28376523)	Singh S.... Resnick K.E.	2017
21	How does genetic risk information for Lynch syndrome translate to risk management behaviours? (28070225)	Steel E.... Keogh L.	2017
22	Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome. (28471433)	West K.M.... Korngiebel D.M.	2017
23	Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. (28449805)	Sunga A.Y.... Weitzel J.N.	2017
24	Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. (28514183)	Espenschied C.R.... Hampel H.	2017
25	Universal molecular screening does not effectively detect Lynch syndrome in clinical practice. (28491141)	Brennan B.... Taupin D.R.	2017
26	The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. (27894169)	Kim M.K.	2017
27	Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report. (27928858)	Adachi M.... Aoki D.	2016
28	Familial adrenocortical carcinoma in association with Lynch syndrome. (27144940)	Challis B.G.... Gurnell M.	2016
29	Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol. (26969429)	Taylor N.... Chin M.	2016
30	Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAM-MSH2 fusion. (27896849)	Sekine S.... Sugano K.	2016
31	Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions. (26990828)	Kravochuck S.E.... Church J.M.	2016
32	Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. (27535758)	Kast K.... Wimberger P.	2016
33	Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. (28031357)	Chika N.... Ishida H.	2016
34	Colorectal Cancer Risk in Patients With Lynch Syndrome andA Inflammatory Bowel Disease. (27521512)	Derikx L.A.... Hoentjen F.	2016
35	Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. (27601186)	Lagerstedt-Robinson K.... Nilbert M.	2016
36	Small bowel adenocarcinoma in Lynch syndrome: A case report. (27446478)	Sun K.K.... Wu X.	2016
37	Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression. (27168032)	Therkildsen C.... Nilbert M.	2016
38	First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. (27468915)	Ziada-Bouchaar H.... Abadi N.	2016
39	Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. (27020214)	McKenzie R.... Scurry J.	2016
40	Evaluation of MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients. (27797228)	Farahani N.... Salehi R.	2016
41	Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. (27069191)	Tanakaya K.... Sugihara K.	2016
42	Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report. (27903930)	Lu Y.... Gopal P.	2016
43	Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan. (27482709)	Chen Y.E.... Chung R.H.	2016
44	Genetic testing for Lynch syndrome in the province of Ontario. (27019099)	Wang M.... Lerner-Ellis J.	2016
45	Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome. (27602130)	Zhou C.... Sang H.	2016
46	Recent discoveries in the molecular genetics of Lynch syndrome. (27038793)	Boland C.R.	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)	Rashid M.U.... Hamann U.	2016
48	Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. (27013479)	Dominguez-Valentin M.... Nilbert M.	2016
49	Colorectal Choriocarcinoma in a Patient with Probable Lynch Syndrome. (27965933)	Koelzer V.H.... Cathomas G.	2016
50	Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. (27064304)	Sjursen W.... Talseth-Palmer B.A.	2016

Genes related to Lynch Syndrome

Sources:
⁵Clinvar, ⁸Cosmic, ¹³DISEASES, ²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Lynch Syndrome (5 elite genes):

(show all 33)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	471.59	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries (show sections)	10671064, 8666379, 19132747 more 19672700, 18030674, 19949877, 20495087, 19821155, 20205264, 19728162, 18951442, 19526325, 19244167, 18415027, 18709565, 17594722, 16472587, 19459153, 18409202, 17653898, 16136382, 20190724, 19690142, 18270343, 15872200, 17327285, 19723918, 17453009, 17851451
2	MLH1	MutL Homolog 1	463.24	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	8895729, 16736289, 9927034 more 11179758, 8521398, 18999873, 11409565, 16237223, 16395668, 9699680, 15184898, 15991064, 16322221, 8566964, 10712226, 9491849, 11793442, 10464596, 10615127, 19055168, 10464599, 10418831, 11416201, 19949877, 16143124, 19526325, 17973250, 17278092, 19455606, 19459153, 19424639, 19419416, 17224235, 20305446, 19900449, 19188145, 16541406, 16276679, 19672700, 19383812, 18726168, 12938096, 19690142, 19728162, 7491839, 10404064, 16826164, 18030674, 20420947, 8863153, 18337503, 17327285, 17473388, 19821155, 19893772, 19723918, 17948867, 17851451, 17453009, 18096441, 17594722, 16256400, 12667026, 8920666, 20005439, 19224586, 19133695, 18409202, 20190724, 19244167, 18415027, 18709565, 17653898, 16136382, 15858146, 15528793, 19858019, 18951442, 18270343, 17628916, 17228328, 17192056, 16908935, 16181381, 15993273, 19698169, 18625694, 18618713, 17003395, 20495087, 19752738, 19493351, 18931482, 18999873, 19177550
3	MSH2	MutS Homolog 2	462.99	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	18999873, 11409565, 16237223 more 16395668, 10615127, 19055168, 8198129, 9242462, 15184898, 15991064, 20388775, 19459153, 18999873, 19911012, 19949877, 17003395, 17224235, 17628916, 17039271, 12938096, 19900449, 16541406, 19476642, 19526325, 19728162, 20305446, 19098912, 10404064, 16826164, 17453009, 17948867, 15872200, 19698169, 19173287, 18625694, 17327285, 17278092, 19821155, 19723918, 19132747, 20190724, 19244167, 19188145, 18415027, 18709565, 17594722, 16353207, 20005439, 19455606, 18726168, 17922223, 18409202, 17653898, 16136382, 19858019, 19690142, 18951442, 18270343, 18987546, 18556772, 17228328, 17192056, 16908935, 16181381, 17851451, 19177550, 20495087, 19390556, 19419416, 18030674, 18931482
4	MSH6	MutS Homolog 6	461.68	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	16237223, 15184898, 18625694 more 19526325, 19459153, 10404064, 18030674, 19949877, 20495087, 17453009, 15872200, 18270343, 19690142, 20190724, 19244167, 18709565, 17594722, 18409202, 17653898, 16136382, 18951442, 19728162, 17851451, 19132747, 19723918, 19821155, 17327285
5	EPCAM	Epithelial Cell Adhesion Molecule	434.92	Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
6	PMS1	PMS1 Homolog 1, Mismatch Repair System Component	67.31	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries (show sections)	7491839, 16136382, 8895729 more 9491849, 10712226
7	MUTYH	MutY DNA Glycosylase	43.79	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	17335759
8	BRCA2	BRCA2, DNA Repair Associated	42.90	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	17601911, 19383374, 16256400
9	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	37.56	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	19949877, 19424639, 19241144 more 19072991, 18096441
10	APC	APC, WNT Signaling Pathway Regulator	36.12	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	16790391, 17392593
11	MLH3	MutL Homolog 3	34.87	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
12	MSH3	MutS Homolog 3	34.68	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
13	TP53	Tumor Protein P53	33.49	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
14	KRAS	KRAS Proto-Oncogene, GTPase	33.05	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
15	BRCA1	BRCA1, DNA Repair Associated	32.89	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	19383374, 16256400, 17601911
16	POLE	DNA Polymerase Epsilon, Catalytic Subunit	32.85	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
17	EXO1	Exonuclease 1	32.51	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	14623461
18	RINT1	RAD50 Interactor 1	32.38	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
19	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	32.37	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
20	LRRFIP2	LRR Binding FLII Interacting Protein 2	22.51	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
21	XRCC2	X-Ray Repair Cross Complementing 2	21.50	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
22	PTPRH	Protein Tyrosine Phosphatase, Receptor Type H	20.78	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
23	MGMT	O-6-Methylguanine-DNA Methyltransferase	20.69	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
24	GSTM1	Glutathione S-Transferase Mu 1	20.46	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
25	CCND1	Cyclin D1	20.25	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
26	LIG4	DNA Ligase 4	20.16	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
27	MUC2	Mucin 2, Oligomeric Mucus/Gel-Forming	20.12	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
28	ANXA10	Annexin A10	20.03	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
29	OGG1	8-Oxoguanine DNA Glycosylase	20.02	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
30	GSTT1	Glutathione S-Transferase Theta 1	20.01	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
31	GSTP1	Glutathione S-Transferase Pi 1	17.20	GeneCards inferred via : Disorders, Publications (show sections)
32	MDM2	MDM2 Proto-Oncogene	17.20	GeneCards inferred via : Disorders, Publications (show sections)
33	ITGA9	Integrin Subunit Alpha 9	16.92	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Lynch Syndrome

Sources:
⁵Clinvar, ⁶CNVD
See all MalaCards sources

Clinvar genetic disease variations for Lynch Syndrome:

⁵ (show all 1,412)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MSH6	NM_ 000179.2(MSH6): c.468_ 471delAAAG (p.Glu158Profs)	deletion	Pathogenic	rs587779941	GRCh37	Chr 2, 48023043: 48023046
2	MSH2	NM_ 000251.2(MSH2): c.932delA (p.Asn311Thrfs)	deletion	Pathogenic	rs587779979	GRCh37	Chr 2, 47641547: 47641547
3	PMS2	NM_ 000535.6(PMS2): c.2T> C (p.Met1Thr)	SNV	Pathogenic/ Likely pathogenic	rs587780059	GRCh37	Chr 7, 6048649: 6048649
4	MSH6	NM_ 000179.2(MSH6): c.1367G> A (p.Trp456Ter)	SNV	Pathogenic	rs587780538	GRCh37	Chr 2, 48026489: 48026489
5	MSH6	NM_ 000179.2(MSH6): c.1790dupA (p.Gly599Argfs)	duplication	Pathogenic	rs587780670	GRCh37	Chr 2, 48026912: 48026912
6	PMS2	NM_ 000535.6(PMS2): c.1376C> A (p.Ser459Ter)	SNV	Pathogenic	rs587780724	GRCh37	Chr 7, 6027020: 6027020
7	PMS2	NM_ 000535.6(PMS2): c.904-2A> G	SNV	Pathogenic/ Likely pathogenic	rs587781339	GRCh37	Chr 7, 6031690: 6031690
8	MLH1	NM_ 000249.3(MLH1): c.971dupA (p.Arg325Alafs)	duplication	Pathogenic	rs587781554	GRCh37	Chr 3, 37061887: 37061887
9	PMS2	NM_ 000535.6(PMS2): c.2500_ 2501delATinsG (p.Met834Glyfs)	indel	Pathogenic	rs587781626	GRCh38	Chr 7, 5973487: 5973488
10	MSH6	NM_ 000179.2(MSH6): c.742delC (p.Arg248Glufs)	deletion	Pathogenic	rs587781691	GRCh37	Chr 2, 48025864: 48025864
11	PMS2	NM_ 000535.6(PMS2): c.325delG (p.Glu109Lysfs)	deletion	Pathogenic	rs587781716	GRCh37	Chr 7, 6043349: 6043349
12	PMS2	NM_ 000535.6(PMS2): c.736_ 741delCCCCCTins11 (p.?)	indel	Pathogenic	rs267608150	GRCh37	Chr 7, 6037019: 6037024
13	PMS2	NM_ 000535.6(PMS2): c.88C> T (p.Gln30Ter)	SNV	Pathogenic	rs141577476	GRCh37	Chr 7, 6045598: 6045598
14	PMS2	NM_ 000535.6(PMS2): c.2117delA (p.Lys706Serfs)	deletion	Pathogenic	rs587782704	GRCh37	Chr 7, 6022512: 6022512
15	PMS2	NM_ 000535.6(PMS2): c.746_ 753delACTCCGTG (p.Asp249Valfs)	deletion	Pathogenic	rs587782710	GRCh37	Chr 7, 6037007: 6037014
16	MSH6	NM_ 000179.2(MSH6): c.3037_ 3041delAAGAA (p.Lys1013Valfs)	deletion	Pathogenic/ Likely pathogenic	rs587782712	GRCh37	Chr 2, 48028159: 48028163
17	MLH1	NM_ 000249.3(MLH1): c.117-2A> G	SNV	Pathogenic	rs267607712	GRCh37	Chr 3, 37038108: 37038108
18	EPCAM	NM_ 002354.2(EPCAM): c.556-14A> G	SNV	Pathogenic	rs376155665	GRCh38	Chr 2, 47378939: 47378939
19	PMS2	NM_ 000535.6(PMS2): c.1144+1G> A	SNV	Pathogenic/ Likely pathogenic	rs373885654	GRCh37	Chr 7, 6029430: 6029430
20	MLH1	NM_ 000249.3(MLH1): c.131C> T (p.Ser44Phe)	SNV	Pathogenic	rs63751109	GRCh37	Chr 3, 37038124: 37038124
21	MLH1	NM_ 000249.3(MLH1): c.1852_ 1854delAAG (p.Lys618del)	deletion	Pathogenic	rs63751247	GRCh37	Chr 3, 37089130: 37089132
22	MLH1	NM_ 000249.3(MLH1): c.986A> C (p.His329Pro)	SNV	Pathogenic	rs63750710	GRCh37	Chr 3, 37061902: 37061902
23	MLH1	NM_ 000249.3(MLH1): c.676C> T (p.Arg226Ter)	SNV	Pathogenic	rs63751615	GRCh37	Chr 3, 37053589: 37053589
24	MLH1	NM_ 000249.3(MLH1): c.199G> T (p.Gly67Trp)	SNV	Pathogenic	rs63750206	GRCh37	Chr 3, 37038192: 37038192
25	MLH1	NM_ 000249.3(MLH1): c.350C> T (p.Thr117Met)	SNV	Pathogenic	rs63750781	GRCh37	Chr 3, 37045935: 37045935
26	MLH1	NM_ 000249.3(MLH1): c.1942C> T (p.Pro648Ser)	SNV	Pathogenic	rs63750899	GRCh37	Chr 3, 37090053: 37090053
27	MLH1	NM_ 000249.3(MLH1): c.806C> G (p.Ser269Ter)	SNV	Pathogenic	rs63750691	GRCh37	Chr 3, 37059012: 37059012
28	MLH1	NM_ 000249.3(MLH1): c.2041G> A (p.Ala681Thr)	SNV	Pathogenic	rs63750217	GRCh37	Chr 3, 37090446: 37090446
29	MLH1	NM_ 000249.3(MLH1): c.104_ 105delTGinsAC (p.Met35Asn)	indel	Pathogenic	rs121912965	GRCh37	Chr 3, 37035142: 37035143
30	MLH1	NM_ 000249.3(MLH1): c.200G> A (p.Gly67Glu)	SNV	Pathogenic	rs63749939	GRCh37	Chr 3, 37038193: 37038193
31	MSH2	NM_ 000251.2(MSH2): c.1865C> T (p.Pro622Leu)	SNV	Pathogenic	rs28929483	GRCh37	Chr 2, 47702269: 47702269
32	MSH2	NM_ 000251.2(MSH2): c.1216C> T (p.Arg406Ter)	SNV	Pathogenic	rs63751108	GRCh37	Chr 2, 47657020: 47657020
33	MSH2	NM_ 000251.2(MSH2): c.1915C> T (p.His639Tyr)	SNV	Pathogenic	rs28929484	GRCh37	Chr 2, 47702319: 47702319
34	MSH2	NM_ 000251.2(MSH2): c.1786_ 1788delAAT (p.Asn596del)	deletion	Pathogenic	rs63749831	GRCh37	Chr 2, 47702190: 47702192
35	MSH2	NM_ 000251.2(MSH2): c.1801C> T (p.Gln601Ter)	SNV	Pathogenic	rs63750047	GRCh37	Chr 2, 47702205: 47702205
36	MSH2	NM_ 000251.2(MSH2): c.1571G> C (p.Arg524Pro)	SNV	Likely pathogenic	rs63751207	GRCh37	Chr 2, 47693857: 47693857
37	MSH2	NM_ 000251.2(MSH2): c.2113delG (p.Val705Trpfs)	deletion	Pathogenic	rs63749811	GRCh37	Chr 2, 47703613: 47703613
38	MSH2	NM_ 000251.2(MSH2): c.269_ 290dup22 (p.Tyr98Argfs)	duplication	Pathogenic	rs587776529	GRCh37	Chr 2, 47635597: 47635618
39	MSH2	NM_ 000251.2(MSH2): c.1906G> C (p.Ala636Pro)	SNV	Pathogenic	rs63750875	GRCh37	Chr 2, 47702310: 47702310
40	MSH2	NM_ 000251.2(MSH2): c.454delA (p.Met152Cysfs)	deletion	Pathogenic	rs63751449	GRCh37	Chr 2, 47637320: 47637320
41	MSH6	NM_ 000179.2(MSH6): c.1805C> G (p.Ser602Ter)	SNV	Pathogenic	rs730881816	GRCh38	Chr 2, 47799788: 47799788
42	MSH6	NM_ 000179.2(MSH6): c.1842delC (p.Cys615Valfs)	deletion	Pathogenic	rs730881825	GRCh38	Chr 2, 47799825: 47799825
43	MSH6	NM_ 000179.2(MSH6): c.2832_ 2833delAA (p.Ile944Metfs)	deletion	Pathogenic	rs730881827	GRCh38	Chr 2, 47800815: 47800816
44	MSH6	NM_ 000179.2(MSH6): c.3690delA (p.Val1231Leufs)	deletion	Pathogenic	rs730881829	GRCh38	Chr 2, 47806247: 47806247
45	PMS2	NM_ 000535.6(PMS2): c.2T> A (p.Met1Lys)	SNV	Pathogenic	rs587780059	GRCh38	Chr 7, 6009018: 6009018
46	PMS2	NM_ 000535.6(PMS2): c.765C> A (p.Tyr255Ter)	SNV	Pathogenic	rs573125799	GRCh37	Chr 7, 6036995: 6036995
47	MSH6	NM_ 000179.2(MSH6): c.10C> T (p.Gln4Ter)	SNV	Pathogenic/ Likely pathogenic	rs786201042	GRCh37	Chr 2, 48010382: 48010382
48	MSH6	NM_ 000179.2(MSH6): c.578delT (p.Leu193Trpfs)	deletion	Pathogenic	rs587782281	GRCh37	Chr 2, 48023153: 48023153
49	PMS2	NM_ 000535.6(PMS2): c.251-2A> T	SNV	Pathogenic/ Likely pathogenic	rs587779340	GRCh37	Chr 7, 6043425: 6043425
50	MSH6	NM_ 000179.2(MSH6): c.3980_ 3983dupATCA (p.Leu1330Valfs)	duplication	Pathogenic/ Likely pathogenic	rs786201855	GRCh37	Chr 2, 48033769: 48033772
51	MSH6	NM_ 000179.2(MSH6): c.989C> A (p.Ser330Ter)	SNV	Pathogenic	rs786202848	GRCh37	Chr 2, 48026111: 48026111
52	PMS2	NM_ 000535.6(PMS2): c.1874delT (p.Leu625Terfs)	deletion	Pathogenic	rs786203073	GRCh37	Chr 7, 6026522: 6026522
53	MSH6	NM_ 000179.2(MSH6): c.2079dupA (p.Cys694Metfs)	duplication	Pathogenic	rs267608083	GRCh37	Chr 2, 48027201: 48027201
54	EPCAM	NM_ 002354.2(EPCAM): c.859-?_ *415del	deletion	Pathogenic		GRCh37	Chr 2, 47612305: 47614167
55	MSH6	NM_ 000179.2(MSH6): c.2144_ 2145delAC (p.Thr716Serfs)	deletion	Pathogenic	rs786204048	GRCh37	Chr 2, 48027266: 48027267
56	MSH2	NM_ 000251.2(MSH2): c.2281delG (p.Leu762Terfs)	deletion	Pathogenic	rs786204050	GRCh38	Chr 2, 47478342: 47478342
57	PMS2	NM_ 000535.6(PMS2): c.1185delC (p.Met396Trpfs)	deletion	Pathogenic	rs786204104	GRCh38	Chr 7, 5987580: 5987580
58	MSH2	NM_ 000251.2(MSH2): c.782_ 783insA (p.Met261Ilefs)	insertion	Pathogenic	rs786204144	GRCh37	Chr 2, 47639689: 47639690
59	MSH2	NM_ 000251.2(MSH2): c.1442T> A (p.Leu481Ter)	SNV	Pathogenic	rs786203036	GRCh37	Chr 2, 47690225: 47690225
60	MSH6	NM_ 000179.2(MSH6): c.1108_ 1109delTT (p.Leu370Argfs)	deletion	Pathogenic	rs786204252	GRCh37	Chr 2, 48026230: 48026231
61	MSH2	NM_ 000251.2(MSH2): c.261dupT (p.Val89Cysfs)	duplication	Pathogenic	rs786204257	GRCh38	Chr 2, 47408450: 47408450
62	MLH1	NM_ 000249.3(MLH1): c.1_ 116del116 (p.Met1Phefs)	deletion	Pathogenic		GRCh38	Chr 3, 36993548: 36993663
63	MLH1	NM_ 000249.3(MLH1): c.208_ 545del	deletion	Pathogenic		GRCh38	Chr 3, 37000955: 37008905
64	MLH1	NM_ 000249.3(MLH1): c.976delG (p.Val326Cysfs)	deletion	Pathogenic	rs786204317	GRCh37	Chr 3, 37061892: 37061892
65	MSH2	NM_ 000251.2(MSH2): c.1278_ 1386+1del110	deletion	Pathogenic		GRCh38	Chr 2, 47445549: 47445658
66	MSH2	NM_ 000251.2(MSH2): c.1984C> T (p.Gln662Ter)	SNV	Pathogenic	rs786204321	GRCh37	Chr 2, 47702388: 47702388
67	MSH6	NM_ 000179.2(MSH6): c.(?_ -1)_ 457+?del	deletion	Pathogenic		GRCh37	Chr 2, 48010372: 48018262
68	MSH6	NM_ 000179.2(MSH6): c.1045C> T (p.Gln349Ter)	SNV	Pathogenic	rs863224473	GRCh37	Chr 2, 48026167: 48026167
69	MSH6	NM_ 000179.2(MSH6): c.1744dupT (p.Arg583Terfs)	duplication	Pathogenic	rs863224474	GRCh38	Chr 2, 47799727: 47799727
70	MSH6	NM_ 000179.2(MSH6): c.2089delG (p.Asp697Ilefs)	deletion	Pathogenic	rs863224475	GRCh37	Chr 2, 48027211: 48027211
71	MSH6	NM_ 000179.2(MSH6): c.3435delA (p.Arg1145Serfs)	deletion	Pathogenic	rs863224476	GRCh38	Chr 2, 47803682: 47803682
72	MLH1	NM_ 000249.3(MLH1): c.1912G> T (p.Gly638Ter)	SNV	Pathogenic	rs63750549	GRCh37	Chr 3, 37090023: 37090023
73	MLH1	NM_ 000249.3(MLH1): c.704_ 723del20 (p.Lys236Glufs)	deletion	Pathogenic	rs863224480	GRCh38	Chr 3, 37014458: 37014477
74	MSH2	NM_ 000251.2(MSH2): c.(?_ -1)_ 1076+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630330: 47643568
75	MSH2	NM_ 000251.2(MSH2): c.141_ 154delCGAGGACGCGCTGC (p.Glu48Glyfs)	deletion	Pathogenic	rs863224481	GRCh37	Chr 2, 47630471: 47630484
76	MSH2	NM_ 000251.2(MSH2): c.1662-?_ *(1_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47698104: 47710089
77	PMS2	NM_ 000535.6(PMS2): c.1239dupA (p.Asp414Argfs)	duplication	Pathogenic	rs758048239	GRCh38	Chr 7, 5987526: 5987526
78	PMS2	NM_ 000535.6(PMS2): c.1297A> T (p.Lys433Ter)	SNV	Pathogenic	rs863224496	GRCh37	Chr 7, 6027099: 6027099
79	PMS2	NM_ 000535.6(PMS2): c.1576delG (p.Asp526Thrfs)	deletion	Pathogenic	rs863224497	GRCh38	Chr 7, 5987189: 5987189
80	PMS2	NM_ 000535.6(PMS2): c.1638_ 1639delTT (p.Ser547Argfs)	deletion	Pathogenic	rs863224498	GRCh38	Chr 7, 5987126: 5987127
81	PMS2	NM_ 000535.6(PMS2): c.989-?_ 1144+?del	deletion	Pathogenic		GRCh37	Chr 7, 6029431: 6029586
82	MSH6	NM_ 000179.2(MSH6): c.1610_ 1613delAGTA (p.Lys537Ilefs)	deletion	Pathogenic	rs863224829	GRCh37	Chr 2, 48026732: 48026735
83	MSH2	NM_ 000251.2(MSH2): c.912dupT (p.Ala305Cysfs)	duplication	Pathogenic	rs863224833	GRCh37	Chr 2, 47641527: 47641527
84	MLH1	NM_ 000249.3(MLH1): c.1790_ 1791delGGinsATCTGGACC (p.Trp597Tyrfs)	indel	Pathogenic	rs863225378	GRCh38	Chr 3, 37047577: 37047578
85	MLH1	NM_ 000249.3(MLH1): c.307-?_ 380+?del	deletion	Pathogenic		GRCh37	Chr 3, 37045892: 37045965
86	MSH2	NM_ 000251.2(MSH2): c.1276+2T> C	SNV	Pathogenic/ Likely pathogenic	rs267607953	GRCh37	Chr 2, 47657082: 47657082
87	MSH6	NM_ 000179.2(MSH6): c.1168_ 1170delGATinsAA (p.Asp390Asnfs)	indel	Pathogenic/ Likely pathogenic	rs863225398	GRCh37	Chr 2, 48026290: 48026292
88	MSH6	NM_ 000179.2(MSH6): c.3332_ 3335dupATGA (p.Asp1112Glufs)	duplication	Pathogenic	rs587782562	GRCh37	Chr 2, 48030718: 48030721
89	MSH6	NM_ 000179.2(MSH6): c.3528_ 3532delACTTG (p.Leu1177Cysfs)	deletion	Pathogenic/ Likely pathogenic	rs863225408	GRCh38	Chr 2, 47804999: 47805003
90	MSH6	NM_ 000179.2(MSH6): c.3632T> C (p.Leu1211Pro)	SNV	Pathogenic	rs864622041	GRCh37	Chr 2, 48032832: 48032832
91	MSH2	NM_ 000251.2(MSH2): c.1963_ 1964delGT (p.Val655Ilefs)	deletion	Pathogenic	rs864622121	GRCh38	Chr 2, 47475228: 47475229
92	MSH6	NM_ 000179.2(MSH6): c.1691C> A (p.Ser564Ter)	SNV	Pathogenic	rs864622153	GRCh38	Chr 2, 47799674: 47799674
93	MSH2	NM_ 000251.2(MSH2): c.748G> T (p.Gly250Ter)	SNV	Pathogenic	rs864622183	GRCh37	Chr 2, 47639655: 47639655
94	PMS2	NM_ 000535.6(PMS2): c.121G> T (p.Glu41Ter)	SNV	Pathogenic	rs3209663	GRCh38	Chr 7, 6005934: 6005934
95	MSH6	NM_ 000179.2(MSH6): c.458-?_ 3172+?del	deletion	Pathogenic		GRCh37	Chr 2, 48023033: 48028294
96	MLH1	NM_ 000249.3(MLH1): c.381-1G> A	SNV	Pathogenic/ Likely pathogenic	rs267607744	GRCh38	Chr 3, 37006990: 37006990
97	MSH6	NM_ 000179.2(MSH6): c.2136delG (p.Asp713Ilefs)	deletion	Pathogenic	rs864622257	GRCh37	Chr 2, 48027258: 48027258
98	MSH2	NM_ 000251.2(MSH2): c.819_ 821delAATinsTG (p.Ile274Alafs)	indel	Pathogenic	rs864622261	GRCh37	Chr 2, 47641434: 47641436
99	PMS2	NM_ 000535.6(PMS2): c.538-?_ 903+?del	deletion	Pathogenic		GRCh38	Chr 7, 5995534: 5999275
100	MSH2	NM_ 000251.2(MSH2): c.842C> G (p.Ser281Ter)	SNV	Pathogenic	rs63749991	GRCh37	Chr 2, 47641457: 47641457
101	MSH2	NM_ 000251.2(MSH2): c.1023delT (p.Val342Leufs)	deletion	Pathogenic	rs864622340	GRCh37	Chr 2, 47643515: 47643515
102	MLH1	NM_ 000249.3(MLH1): c.1246A> T (p.Lys416Ter)	SNV	Pathogenic	rs267607823	GRCh37	Chr 3, 37067335: 37067335
103	EPCAM	NM_ 002354.2(EPCAM): c.491+1G> T	SNV	Pathogenic	rs606231203	GRCh37	Chr 2, 47602439: 47602439
104	MSH6	NM_ 000179.2(MSH6): c.3526A> T (p.Arg1176Ter)	SNV	Pathogenic	rs786203968	GRCh37	Chr 2, 48032136: 48032136
105	MSH6	NM_ 000179.2(MSH6): c.1387G> T (p.Glu463Ter)	SNV	Pathogenic	rs864622435	GRCh37	Chr 2, 48026509: 48026509
106	MSH2	NM_ 000251.2(MSH2): c.1563T> A (p.Tyr521Ter)	SNV	Pathogenic	rs63750330	GRCh37	Chr 2, 47693849: 47693849
107	MSH2	NM_ 000251.2(MSH2): c.421_ 422delAT (p.Met141Valfs)	deletion	Pathogenic	rs863224482	GRCh38	Chr 2, 47410148: 47410149
108	MSH6	NM_ 000179.2(MSH6): c.2308_ 2312delGGTAAinsT (p.Gly770Cysfs)	indel	Pathogenic	rs864622585	GRCh38	Chr 2, 47800291: 47800295
109	PMS2	NM_ 000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)	duplication	Pathogenic	rs864622600	GRCh37	Chr 7, 6026646: 6026646
110	MLH1	NM_ 000249.3(MLH1): c.25_ 26delCGinsTA (p.Arg9Ter)	indel	Pathogenic	rs869312767	GRCh37	Chr 3, 37035063: 37035064
111	MSH2	NM_ 000251.2(MSH2): c.1201_ 1202dupTT (p.Leu401Phefs)	duplication	Pathogenic	rs869312768	GRCh37	Chr 2, 47657005: 47657006
112	MSH6	NM_ 000179.2(MSH6): c.1352delT (p.Phe451Serfs)	deletion	Pathogenic	rs869312769	GRCh37	Chr 2, 48026474: 48026474
113	MSH6	NM_ 000179.2(MSH6): c.2848_ 2849delAG (p.Ser950Profs)	deletion	Pathogenic	rs869312770	GRCh38	Chr 2, 47800831: 47800832
114	PMS2	NM_ 000535.6(PMS2): c.1500delC (p.Val501Trpfs)	deletion	Pathogenic	rs759151952	GRCh37	Chr 7, 6026896: 6026896
115	MSH2	NM_ 000251.2(MSH2): c.1384C> T (p.Gln462Ter)	SNV	Pathogenic	rs876657701	GRCh38	Chr 2, 47445655: 47445655
116	PMS2	NM_ 000535.6(PMS2): c.2T> G (p.Met1Arg)	SNV	Pathogenic	rs587780059	GRCh37	Chr 7, 6048649: 6048649
117	PMS2	NM_ 000535.6(PMS2): c.851C> G (p.Ser284Ter)	SNV	Pathogenic	rs587782898	GRCh37	Chr 7, 6035217: 6035217
118	MSH6	NM_ 000179.2(MSH6): c.2645_ 2653delTTAAGTCTA (p.Phe882_ Thr1219delinsTer)	deletion	Pathogenic	rs876660630	GRCh37	Chr 2, 48027767: 48027775
119	PMS2	NM_ 000535.6(PMS2): c.631C> T (p.Arg211Ter)	SNV	Pathogenic	rs760228510	GRCh37	Chr 7, 6038813: 6038813
120	PMS2	NM_ 000535.6(PMS2): c.2445+1G> T	SNV	Pathogenic	rs876661113	GRCh38	Chr 7, 5977587: 5977587
121	MSH6	NM_ 000179.2(MSH6): c.1350_ 1351delAT (p.Phe451Hisfs)	deletion	Pathogenic	rs878853702	GRCh37	Chr 2, 48026472: 48026473
122	MSH6	NM_ 000179.2(MSH6): c.1570_ 1571insC (p.Tyr524Serfs)	insertion	Pathogenic	rs878853709	GRCh37	Chr 2, 48026692: 48026693
123	MSH6	NM_ 000179.2(MSH6): c.2056_ 2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)	indel	Pathogenic	rs878853711	GRCh37	Chr 2, 48027178: 48027182
124	MSH6	NM_ 000179.2(MSH6): c.2680C> T (p.Gln894Ter)	SNV	Pathogenic	rs878853718	GRCh38	Chr 2, 47800663: 47800663
125	MSH6	NM_ 000179.2(MSH6): c.2804_ 2805delCT (p.Ser935Terfs)	deletion	Pathogenic	rs878853721	GRCh37	Chr 2, 48027926: 48027927
126	MSH6	NM_ 000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)	duplication	Pathogenic	rs878853729	GRCh38	Chr 2, 47801146: 47801146
127	MSH6	NM_ 000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)	SNV	Pathogenic	rs398123231	GRCh38	Chr 2, 47804948: 47804948
128	MSH6	NM_ 000179.2(MSH6): c.3717_ 3721dupAAAAT (p.Cys1241Terfs)	duplication	Pathogenic	rs878853736	GRCh38	Chr 2, 47806274: 47806278
129	MSH6	NM_ 000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)	duplication	Pathogenic	rs878853739	GRCh37	Chr 2, 48033653: 48033653
130	MSH6	NM_ 000179.2(MSH6): c.741delA (p.Lys247Asnfs)	deletion	Pathogenic	rs267608041	GRCh37	Chr 2, 48025863: 48025863
131	MLH1	NM_ 000249.3(MLH1): c.1441delA (p.Met481Trpfs)	deletion	Pathogenic	rs878853777	GRCh37	Chr 3, 37070306: 37070306
132	MLH1	NM_ 000249.3(MLH1): c.1456dupT (p.Ser486Phefs)	duplication	Pathogenic	rs878853778	GRCh37	Chr 3, 37070321: 37070321
133	MLH1	NM_ 000249.3(MLH1): c.2044_ 2045delAT (p.Met682Valfs)	deletion	Pathogenic	rs878853785	GRCh37	Chr 3, 37090449: 37090450
134	MLH1	NM_ 000249.3(MLH1): c.38dupA (p.Thr14Aspfs)	duplication	Pathogenic	rs63750057	GRCh37	Chr 3, 37035076: 37035076
135	MLH1	NM_ 000249.3(MLH1): c.826dupA (p.Ile276Asnfs)	duplication	Pathogenic	rs878853792	GRCh37	Chr 3, 37059032: 37059032
136	MLH1	NM_ 000249.3(MLH1): c.961_ 962dupAG (p.Ser321Argfs)	duplication	Pathogenic	rs878853794	GRCh37	Chr 3, 37061877: 37061878
137	MSH2	NM_ 000251.2(MSH2): c.1404_ 1410delCCTTGTA (p.Phe468Leufs)	deletion	Pathogenic	rs878853802	GRCh38	Chr 2, 47463048: 47463054
138	MSH2	NM_ 000251.2(MSH2): c.2150_ 2153delGTCA (p.Ser717Asnfs)	deletion	Pathogenic	rs878853809	GRCh38	Chr 2, 47476511: 47476514
139	MSH2	NM_ 000251.2(MSH2): c.340G> T (p.Glu114Ter)	SNV	Pathogenic	rs878853815	GRCh38	Chr 2, 47408529: 47408529
140	MSH2	NM_ 000251.2(MSH2): c.790C> T (p.Gln264Ter)	SNV	Pathogenic	rs878853824	GRCh38	Chr 2, 47412558: 47412558
141	PMS2	NM_ 000535.6(PMS2): c.1500dupC (p.Val501Argfs)	duplication	Pathogenic	rs878854035	GRCh38	Chr 7, 5987265: 5987265
142	PMS2	NM_ 000535.6(PMS2): c.1591G> T (p.Glu531Ter)	SNV	Pathogenic	rs878854037	GRCh37	Chr 7, 6026805: 6026805
143	PMS2	NM_ 000535.6(PMS2): c.2276-?_ *160+?del	deletion	Pathogenic
144	PMS2	NM_ 000535.6(PMS2): c.947_ 948delAC (p.His316Profs)	deletion	Pathogenic	rs878854060	GRCh37	Chr 7, 6031644: 6031645
145	EPCAM	NM_ 002354.2(EPCAM): c.133C> T (p.Gln45Ter)	SNV	Pathogenic	rs878854485	GRCh38	Chr 2, 47373519: 47373519
146	EPCAM	NM_ 002354.2(EPCAM): c.429G> A (p.Trp143Ter)	SNV	Pathogenic	rs878854488	GRCh38	Chr 2, 47375237: 47375237
147	EPCAM	NM_ 002354.2(EPCAM): c.523C> T (p.Gln175Ter)	SNV	Pathogenic	rs878854491	GRCh38	Chr 2, 47377045: 47377045
148	MSH2	NM_ 000251.2(MSH2): c.1008delT (p.Gln337Lysfs)	deletion	Pathogenic	rs879253899	GRCh37	Chr 2, 47643500: 47643500
149	MSH2	NM_ 000251.2(MSH2): c.366+1G> A	SNV	Pathogenic/ Likely pathogenic	rs267607924	GRCh37	Chr 2, 47635695: 47635695
150	MSH6	NM_ 000179.2(MSH6): c.458-?_ 4001+?del	deletion	Pathogenic		GRCh37	Chr 2, 48023033: 48033790
151	MSH2	NM_ 000251.2(MSH2): c.-125_ 645+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630206: 47637511
152	PMS2	NM_ 000535.6(PMS2): c.-87_ 537+?del	deletion	Pathogenic
153	MSH2	NM_ 000251.2(MSH2): c.-125_ 1076+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630206: 47643568
154	PMS2	NM_ 000535.6(PMS2): c.164-?_ 2006+?del	deletion	Pathogenic
155	PMS2	NC_ 000007.14: g.(?_ 5986753)_ (6009025_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5986753: 6009025
156	MSH2	NM_ 000251.2(MSH2): c.367-?_ 645+?del	deletion	Pathogenic		GRCh37	Chr 2, 47637233: 47637511
157	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 1276+?del	deletion	Pathogenic		GRCh37	Chr 2, 47656881: 47657080
158	PMS2	NM_ 000535.6(PMS2): c.989-?_ 1144+?del	deletion	Pathogenic		GRCh37	Chr 7, 6029431: 6029586
159	MSH2	NM_ 000251.2(MSH2): c.1387-?_ 1510+?del	deletion	Pathogenic		GRCh37	Chr 2, 47690170: 47690293
160	PMS2	NM_ 000535.6(PMS2): c.2276-?_ 2445+?del	deletion	Pathogenic		GRCh38	Chr 7, 5977588: 5977757
161	MLH1	NM_ 000249.3(MLH1): c.793C> T (p.Arg265Cys)	SNV	Pathogenic	rs63751194	GRCh37	Chr 3, 37058999: 37058999
162	MLH1	NM_ 000249.3(MLH1): c.1865T> A (p.Leu622His)	SNV	Pathogenic	rs63750693	GRCh37	Chr 3, 37089143: 37089143
163	MLH1	NM_ 000249.3(MLH1): c.1381A> T (p.Lys461Ter)	SNV	Pathogenic	rs63750540	GRCh37	Chr 3, 37067470: 37067470
164	MLH1	NM_ 000249.3(MLH1): c.298C> T (p.Arg100Ter)	SNV	Pathogenic	rs63751221	GRCh37	Chr 3, 37042536: 37042536
165	MLH1	NM_ 000249.3(MLH1): c.454-1G> A	SNV	Pathogenic	rs193922370	GRCh37	Chr 3, 37050304: 37050304
166	MSH2	NM_ 000251.2(MSH2): c.1030C> T (p.Gln344Ter)	SNV	Pathogenic	rs63750245	GRCh37	Chr 2, 47643522: 47643522
167	MSH2	NM_ 000251.2(MSH2): c.1705_ 1706delGA (p.Glu569Ilefs)	deletion	Pathogenic	rs63750393	GRCh37	Chr 2, 47698147: 47698148
168	MSH2	NM_ 000251.2(MSH2): c.2038C> T (p.Arg680Ter)	SNV	Pathogenic	rs63749932	GRCh37	Chr 2, 47703538: 47703538
169	MSH2	NM_ 000251.2(MSH2): c.860dupG (p.Gln288Thrfs)	duplication	Pathogenic/ Likely pathogenic	rs193922375	GRCh37	Chr 2, 47641475: 47641475
170	MSH2	NM_ 000251.2(MSH2): c.942+3A> T	SNV	Pathogenic	rs193922376	GRCh37	Chr 2, 47641560: 47641560
171	MSH6	NM_ 000179.2(MSH6): c.3699_ 3702delAGAA (p.Lys1233Asnfs)	deletion	Pathogenic	rs193922343	GRCh37	Chr 2, 48033395: 48033398
172	MLH1	NM_ 000249.3(MLH1): c.1219C> T (p.Gln407Ter)	SNV	Pathogenic/ Likely pathogenic	rs1057517541	GRCh38	Chr 3, 37025817: 37025817
173	MSH6	NM_ 000179.2(MSH6): c.908dupT (p.Met303Ilefs)	duplication	Pathogenic/ Likely pathogenic	rs1057517551	GRCh37	Chr 2, 48026030: 48026030
174	MSH6	NM_ 000179.2(MSH6): c.3573dupT (p.Val1192Cysfs)	duplication	Pathogenic	rs1057517764	GRCh37	Chr 2, 48032773: 48032773
175	MLH1	NM_ 000249.3(MLH1): c.699T> A (p.Cys233Ter)	SNV	Pathogenic	rs764085979	GRCh38	Chr 3, 37014453: 37014453
176	MLH1	NM_ 000249.3(MLH1): c.1853dupA (p.Ala619Glyfs)	duplication	Pathogenic		GRCh38	Chr 3, 37047640: 37047640
177	MLH1	NM_ 000249.3(MLH1): c.268delG (p.Asp90Ilefs)	deletion	Pathogenic	rs1060500688	GRCh38	Chr 3, 37001015: 37001015
178	MLH1	NM_ 000249.3(MLH1): c.390C> G (p.Tyr130Ter)	SNV	Pathogenic	rs1060500689	GRCh38	Chr 3, 37007000: 37007000
179	MLH1	NM_ 000249.3(MLH1): c.1072_ 1078delGAGATGG (p.Glu358Leufs)	deletion	Pathogenic	rs1060500692	GRCh38	Chr 3, 37025670: 37025676
180	MLH1	NM_ 000249.3(MLH1): c.1105dupT (p.Ser369Phefs)	duplication	Pathogenic		GRCh38	Chr 3, 37025703: 37025703
181	MLH1	NM_ 000249.3(MLH1): c.1043delT (p.Leu348Cysfs)	deletion	Pathogenic	rs1060500703	GRCh38	Chr 3, 37025641: 37025641
182	MLH1	NM_ 000249.3(MLH1): c.2136delG (p.Trp712Terfs)	deletion	Pathogenic	rs1060500706	GRCh37	Chr 3, 37092009: 37092009
183	MLH1	NM_ 000249.3(MLH1): c.1047dupA (p.Pro350Thrfs)	duplication	Pathogenic		GRCh38	Chr 3, 37025645: 37025645
184	MLH1	NM_ 000249.3(MLH1): c.129dupA (p.Ser44Ilefs)	duplication	Pathogenic		GRCh38	Chr 3, 36996631: 36996631
185	MSH2	NM_ 000251.2(MSH2): c.388C> T (p.Gln130Ter)	SNV	Pathogenic	rs1060501989	GRCh38	Chr 2, 47410115: 47410115
186	MSH2	NM_ 000251.2(MSH2): c.1667dupT (p.Leu556Phefs)	duplication	Pathogenic		GRCh38	Chr 2, 47470970: 47470970
187	MSH2	NM_ 000251.2(MSH2): c.87_ 90delGCCG (p.Thr31Profs)	deletion	Pathogenic	rs1060502000	GRCh38	Chr 2, 47403278: 47403281
188	MSH2	NM_ 000251.2(MSH2): c.85A> T (p.Lys29Ter)	SNV	Pathogenic	rs1060502001	GRCh38	Chr 2, 47403276: 47403276
189	MSH2	NM_ 000251.2(MSH2): c.830T> A (p.Leu277Ter)	SNV	Pathogenic	rs786203424	GRCh38	Chr 2, 47414306: 47414306
190	MSH2	NM_ 000251.2(MSH2): c.350G> A (p.Trp117Ter)	SNV	Pathogenic	rs786202083	GRCh38	Chr 2, 47408539: 47408539
191	MSH2	NM_ 000251.2(MSH2): c.510dupG (p.Arg171Glufs)	duplication	Pathogenic		GRCh38	Chr 2, 47410237: 47410237
192	MSH2	NM_ 000251.2(MSH2): c.1405delC (p.Val470Terfs)	deletion	Pathogenic	rs1060502027	GRCh38	Chr 2, 47463049: 47463049
193	MSH2	NM_ 000251.2(MSH2): c.1470_ 1473delGAAGinsAAA (p.Met492Cysfs)	indel	Pathogenic	rs1060502029	GRCh37	Chr 2, 47690253: 47690256
194	MSH2	NM_ 000251.2(MSH2): c.2161G> T (p.Gly721Ter)	SNV	Pathogenic	rs1060502032	GRCh38	Chr 2, 47476522: 47476522
195	MSH2	NM_ 000251.2(MSH2): c.1308dupT (p.Val437Cysfs)	duplication	Pathogenic		GRCh38	Chr 2, 47445579: 47445579
196	MSH2	NM_ 000251.2(MSH2): c.1796delT (p.Leu599Terfs)	deletion	Pathogenic	rs1060502039	GRCh38	Chr 2, 47475061: 47475061
197	MSH6	NM_ 000179.2(MSH6): c.2294dupG (p.Cys765Trpfs)	duplication	Pathogenic		GRCh38	Chr 2, 47800277: 47800277
198	MSH6	NM_ 000179.2(MSH6): c.442_ 443delTT (p.Leu148Lysfs)	deletion	Pathogenic	rs1060502875	GRCh38	Chr 2, 47791108: 47791109
199	MSH6	NM_ 000179.2(MSH6): c.2735G> A (p.Trp912Ter)	SNV	Pathogenic	rs1060502876	GRCh38	Chr 2, 47800718: 47800718
200	MSH6	NM_ 000179.2(MSH6): c.3577_ 3581delGAATT (p.Glu1193Lysfs)	deletion	Pathogenic	rs1060502881	GRCh38	Chr 2, 47805638: 47805642
201	MSH6	NM_ 000179.2(MSH6): c.3149delC (p.Ala1050Valfs)	deletion	Pathogenic	rs1060502882	GRCh38	Chr 2, 47801132: 47801132
202	MSH6	NM_ 000179.2(MSH6): c.3850_ 3857dupACGTTCCT (p.Tyr1287Argfs)	duplication	Pathogenic		GRCh38	Chr 2, 47806500: 47806507
203	MSH6	NM_ 000179.2(MSH6): c.1815_ 1816delTA (p.Lys606Asnfs)	deletion	Pathogenic	rs1060502886	GRCh38	Chr 2, 47799798: 47799799
204	MSH6	NM_ 000179.2(MSH6): c.873_ 874delCA (p.Asn291Lysfs)	deletion	Pathogenic	rs1060502888	GRCh38	Chr 2, 47798856: 47798857
205	MSH6	NM_ 000179.2(MSH6): c.2991delA (p.Lys997Asnfs)	deletion	Pathogenic	rs1060502890	GRCh38	Chr 2, 47800974: 47800974
206	MSH6	NM_ 000179.2(MSH6): c.3253delA (p.Thr1085Profs)	deletion	Pathogenic	rs1060502891	GRCh38	Chr 2, 47803500: 47803500
207	MSH6	NM_ 000179.2(MSH6): c.1572C> A (p.Tyr524Ter)	SNV	Pathogenic	rs587779215	GRCh38	Chr 2, 47799555: 47799555
208	MSH6	NM_ 000179.2(MSH6): c.261-3237_ 3735del	deletion	Pathogenic		GRCh38	Chr 2, 47787690: 47806292
209	MSH6	NM_ 000179.2(MSH6): c.1805C> A (p.Ser602Ter)	SNV	Pathogenic	rs730881816	GRCh38	Chr 2, 47799788: 47799788
210	MSH6	NM_ 000179.2(MSH6): c.3827_ 3830dupAAGA (p.Asp1277Glufs)	duplication	Pathogenic		GRCh38	Chr 2, 47806477: 47806480
211	MSH6	NM_ 000179.2(MSH6): c.2010delG (p.Leu671Terfs)	deletion	Pathogenic	rs1060502918	GRCh38	Chr 2, 47799993: 47799993
212	MSH6	NM_ 000179.2(MSH6): c.2550C> G (p.Tyr850Ter)	SNV	Pathogenic	rs374230313	GRCh38	Chr 2, 47800533: 47800533
213	MSH6	NM_ 000179.2(MSH6): c.3556+1G> A	SNV	Pathogenic	rs1060502926	GRCh38	Chr 2, 47805028: 47805028
214	MSH6	NM_ 000179.2(MSH6): c.741dupA (p.Arg248Thrfs)	duplication	Pathogenic		GRCh38	Chr 2, 47798724: 47798724
215	MSH6	NM_ 000179.2(MSH6): c.999delC (p.Lys334Argfs)	deletion	Pathogenic	rs1060502932	GRCh38	Chr 2, 47798982: 47798982
216	MSH6	NM_ 000179.2(MSH6): c.3973A> T (p.Lys1325Ter)	SNV	Pathogenic	rs1060502937	GRCh38	Chr 2, 47806623: 47806623
217	MSH6	NM_ 000179.2(MSH6): c.1333_ 1334delAG (p.Ser445Terfs)	deletion	Pathogenic	rs1060502940	GRCh38	Chr 2, 47799316: 47799317
218	MSH6	NM_ 000179.2(MSH6): c.896delA (p.Lys299Serfs)	deletion	Pathogenic	rs1060502941	GRCh37	Chr 2, 48026018: 48026018
219	MSH6	NM_ 000179.2(MSH6): c.1295_ 1296insAA (p.Phe432Leufs)	insertion	Pathogenic	rs1060502946	GRCh38	Chr 2, 47799278: 47799279
220	PMS2	NM_ 000535.6(PMS2): c.2192T> G (p.Leu731Ter)	SNV	Pathogenic	rs1060503110	GRCh38	Chr 7, 5978679: 5978679
221	PMS2	NM_ 000535.6(PMS2): c.779_ 780delCCinsAG (p.Ser260Ter)	indel	Pathogenic	rs730881920	GRCh38	Chr 7, 5997349: 5997350
222	PMS2	NM_ 000535.6(PMS2): c.859dupA (p.Arg287Lysfs)	duplication	Pathogenic		GRCh38	Chr 7, 5995578: 5995578
223	PMS2	NM_ 000535.6(PMS2): c.1864_ 1865delAT (p.Met622Glufs)	deletion	Pathogenic	rs1060503137	GRCh38	Chr 7, 5986900: 5986901
224	PMS2	NM_ 000535.6(PMS2): c.1891C> T (p.Gln631Ter)	SNV	Pathogenic	rs1060503138	GRCh38	Chr 7, 5986874: 5986874
225	PMS2	NM_ 000535.6(PMS2): c.686_ 687delCT (p.Ser229Cysfs)	deletion	Pathogenic	rs746766787	GRCh38	Chr 7, 5999126: 5999127
226	PMS2	NM_ 000535.6(PMS2): c.1348A> T (p.Lys450Ter)	SNV	Pathogenic	rs1060503142	GRCh38	Chr 7, 5987417: 5987417
227	PMS2	NM_ 000535.6(PMS2): c.129delA (p.Glu44Lysfs)	deletion	Pathogenic	rs1060503148	GRCh37	Chr 7, 6045557: 6045557
228	PMS2	NM_ 000535.6(PMS2): c.1912C> T (p.Gln638Ter)	SNV	Pathogenic	rs764342199	GRCh38	Chr 7, 5986853: 5986853
229	PMS2	NM_ 000535.6(PMS2): c.1653C> A (p.Cys551Ter)	SNV	Pathogenic	rs876659162	GRCh38	Chr 7, 5987112: 5987112
230	MLH1	NM_ 000249.3(MLH1): c.208-?_ 306+?del	deletion	Pathogenic		GRCh38	Chr 3, 37000955: 37001053
231	MLH1	NM_ 000249.3(MLH1): c.1410-?_ 1558+?del	deletion	Pathogenic		GRCh37	Chr 3, 37070275: 37070423
232	MLH1	NC_ 000003.12: g.(?_ 36996619)_ (37001053_ ?)del	deletion	Pathogenic		GRCh38	Chr 3, 36996619: 37001053
233	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?del	deletion	Pathogenic		GRCh38	Chr 3, 36993350: 37028932
234	MLH1	NM_ 000249.3(MLH1): c.1559-?_ 1667+?del	deletion	Pathogenic		GRCh37	Chr 3, 37081677: 37081785
235	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 1661+?del	deletion	Pathogenic		GRCh38	Chr 2, 47445548: 47466808
236	MSH2	NC_ 000002.12: g.(?_ 47403067)_ (47403402_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47630206: 47630541
237	MSH2	NC_ 000002.12: g.(?_ 47412414)_ (47483228_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47639553: 47710367
238	MSH2	NC_ 000002.12: g.(?_ 47403067)_ (47408555_ ?)del	deletion	Pathogenic		GRCh38	Chr 2, 47403067: 47408555
239	MSH2	NM_ 000251.2(MSH2): c.2006-?_ 2210+?del	deletion	Pathogenic		GRCh37	Chr 2, 47703506: 47703710
240	MSH2	NM_ 000251.2(MSH2): c.212-?_ 366+?del	deletion	Pathogenic		GRCh38	Chr 2, 47408401: 47408555
241	MSH2	NM_ 000251.2(MSH2): c.646-?_ 792+?del	deletion	Likely pathogenic		GRCh38	Chr 2, 47412414: 47412560
242	MSH2	NC_ 000002.12: g.(?_ 47403067)_ (47483228_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47630206: 47710367
243	MSH6	NC_ 000002.12: g.(?_ 47803420)_ (47805027_ ?)del	deletion	Pathogenic		GRCh38	Chr 2, 47803420: 47805027
244	MSH6	NC_ 000002.12: g.(?_ 47795894)_ (47805027_ ?)del	deletion	Pathogenic		GRCh38	Chr 2, 47795894: 47805027
245	MSH6	NC_ 000002.12: g.(?_ 47790927)_ (47801155_ ?)del	deletion	Pathogenic		GRCh38	Chr 2, 47790927: 47801155
246	EPCAM	NC_ 000002.12: g.(?_ 47369148)_ (47387028_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47596287: 47614167
247	EPCAM	NC_ 000002.12: g.(?_ 47378953)_ (47387028_ ?)del	deletion	Pathogenic		GRCh38	Chr 2, 47378953: 47387028
248	EPCAM	NC_ 000002.12: g.(?_ 47377014)_ (47377077_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47604153: 47604216
249	PMS2	NC_ 000007.14: g.(?_ 6003690)_ (6004058_ ?)del	deletion	Pathogenic		GRCh37	Chr 7, 6043321: 6043689
250	PMS2	NC_ 000007.14: g.(?_ 5991973)_ (6002636_ ?)del	deletion	Pathogenic		GRCh37	Chr 7, 6031604: 6042267
251	PMS2	NC_ 000007.14: g.(?_ 5991973)_ (6006031_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5991973: 6006031
252	PMS2	NC_ 000007.14: g.(?_ 5997326)_ (6004058_ ?)del	deletion	Pathogenic		GRCh37	Chr 7, 6036957: 6043689
253	PMS2	NC_ 000007.14: g.(?_ 5991973)_ (6009106_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5991973: 6009106
254	PMS2	NC_ 000007.14: g.(?_ 5991973)_ (5999275_ ?)del	deletion	Pathogenic		GRCh37	Chr 7, 6031604: 6038906
255	MSH6	NC_ 000002.12: g.(?_ 47790927)_ (47791123_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 48018066: 48018262
256	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 2634+?del	deletion	Pathogenic		GRCh38	Chr 2, 47445548: 47480871
257	MSH2	NM_ 000251.2(MSH2): c.367-?_ 1076+?del	deletion	Pathogenic		GRCh38	Chr 2, 47410094: 47416429
258	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 1386+?del	deletion	Pathogenic		GRCh38	Chr 2, 47445548: 47445657
259	MSH6	NM_ 000179.2(MSH6): c.3173-1G> C	SNV	Pathogenic/ Likely pathogenic	rs397515875	GRCh37	Chr 2, 48030558: 48030558
260	MSH6	NM_ 000179.2(MSH6): c.3991C> T (p.Arg1331Ter)	SNV	Pathogenic	rs267608094	GRCh37	Chr 2, 48033780: 48033780
261	MSH6	NM_ 000179.2(MSH6): c.(?_ -152)_ (*93_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 48010221: 48034092
262	MSH6	NM_ 000179.2(MSH6): c.(?_ -152)_ 457+?del	deletion	Pathogenic		GRCh37	Chr 2, 48010221: 48018262
263	MSH6	NM_ 000179.2(MSH6): c.-11863_ 457+1921del	deletion	Pathogenic		NCBI36	Chr 2, 47852014: 47873687
264	MSH6	NM_ 000179.2(MSH6): c.-3097_ 457+2010del	deletion	Pathogenic		GRCh37	Chr 2, 48007276: 48020272
265	MSH6	NM_ 000179.2(MSH6): c.1085delC (p.Pro362Leufs)	deletion	Pathogenic	rs267608056	GRCh37	Chr 2, 48026207: 48026207
266	MSH6	NM_ 000179.2(MSH6): c.1101delT (p.His367Glnfs)	deletion	Pathogenic	rs587779203	GRCh37	Chr 2, 48026223: 48026223
267	MSH6	NM_ 000179.2(MSH6): c.1135_ 1139delAGAGA (p.Arg379Terfs)	deletion	Pathogenic	rs267608077	GRCh37	Chr 2, 48026257: 48026261
268	MSH6	NM_ 000179.2(MSH6): c.1139_ 1143delATGAG (p.Asp380Alafs)	deletion	Pathogenic	rs587779206	GRCh37	Chr 2, 48026261: 48026265
269	MSH6	NM_ 000179.2(MSH6): c.1190_ 1191delAT (p.Tyr397Cysfs)	deletion	Pathogenic	rs63750439	GRCh37	Chr 2, 48026312: 48026313
270	MSH6	NM_ 000179.2(MSH6): c.1193T> A (p.Val398Glu)	SNV	Pathogenic	rs587779208	GRCh37	Chr 2, 48026315: 48026315
271	MSH6	NM_ 000179.2(MSH6): c.1276delT (p.Cys426Valfs)	deletion	Pathogenic	rs587779209	GRCh37	Chr 2, 48026398: 48026398
272	MSH6	NM_ 000179.2(MSH6): c.1299T> A (p.Tyr433Ter)	SNV	Pathogenic	rs267608055	GRCh37	Chr 2, 48026421: 48026421
273	MSH6	NM_ 000179.2(MSH6): c.1346T> C (p.Leu449Pro)	SNV	Pathogenic	rs63750741	GRCh37	Chr 2, 48026468: 48026468
274	MSH6	NM_ 000179.2(MSH6): c.1421_ 1422dupTG (p.Gln475Cysfs)	duplication	Pathogenic	rs63750854	GRCh37	Chr 2, 48026543: 48026544
275	MSH6	NM_ 000179.2(MSH6): c.1444C> T (p.Arg482Ter)	SNV	Pathogenic	rs63750909	GRCh37	Chr 2, 48026566: 48026566
276	MSH6	NM_ 000179.2(MSH6): c.1477G> T (p.Glu493Ter)	SNV	Pathogenic	rs267608046	GRCh37	Chr 2, 48026599: 48026599
277	MSH6	NM_ 000179.2(MSH6): c.1483C> T (p.Arg495Ter)	SNV	Pathogenic	rs587779212	GRCh37	Chr 2, 48026605: 48026605
278	MSH6	NM_ 000179.2(MSH6): c.1572C> G (p.Tyr524Ter)	SNV	Pathogenic	rs587779215	GRCh37	Chr 2, 48026694: 48026694
279	MSH6	NM_ 000179.2(MSH6): c.1580delT (p.Leu527Argfs)	deletion	Pathogenic	rs63751090	GRCh37	Chr 2, 48026702: 48026702
280	MSH6	NM_ 000179.2(MSH6): c.1590delT (p.Ser532Leufs)	deletion	Pathogenic	rs587779216	GRCh37	Chr 2, 48026712: 48026712
281	MSH6	NM_ 000179.2(MSH6): c.1596dupT (p.Glu533Terfs)	duplication	Pathogenic	rs587779217	GRCh37	Chr 2, 48026718: 48026718
282	MSH6	NM_ 000179.2(MSH6): c.1614_ 1615delTCinsAG (p.Tyr538Ter)	indel	Pathogenic	rs267608049	GRCh37	Chr 2, 48026736: 48026737
283	MSH6	NM_ 000179.2(MSH6): c.1614_ 1615delTCinsG (p.Tyr538Terfs)	indel	Pathogenic	rs587779218	GRCh37	Chr 2, 48026736: 48026737
284	MSH6	NM_ 000179.2(MSH6): c.1628_ 1629delAA (p.Lys543Argfs)	deletion	Pathogenic	rs587779219	GRCh37	Chr 2, 48026750: 48026751
285	MSH6	NM_ 000179.2(MSH6): c.1632_ 1635delAAAA (p.Lys545Argfs)	deletion	Pathogenic	rs267608064	GRCh37	Chr 2, 48026754: 48026757
286	MSH6	NM_ 000179.2(MSH6): c.1634_ 1637delAAGA (p.Lys545Argfs)	deletion	Pathogenic	rs63749874	GRCh37	Chr 2, 48026756: 48026759
287	MSH6	NM_ 000179.2(MSH6): c.1637_ 1638delAG (p.Glu546Glyfs)	deletion	Pathogenic	rs267608076	GRCh37	Chr 2, 48026759: 48026760
288	MSH6	NM_ 000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)	deletion	Pathogenic	rs267608050	GRCh37	Chr 2, 48026906: 48026906
289	MSH6	NM_ 000179.2(MSH6): c.1806_ 1809delAAAG (p.Glu604Leufs)	deletion	Pathogenic	rs63750735	GRCh37	Chr 2, 48026928: 48026931
290	MSH6	NM_ 000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)	duplication	Pathogenic	rs587779221	GRCh37	Chr 2, 48026941: 48026941
291	MSH6	NM_ 000179.2(MSH6): c.1835C> A (p.Ser612Ter)	SNV	Pathogenic	rs63750564	GRCh37	Chr 2, 48026957: 48026957
292	MSH6	NM_ 000179.2(MSH6): c.1869delC (p.Gly624Alafs)	deletion	Pathogenic	rs71539659	GRCh37	Chr 2, 48026991: 48026991
293	MSH6	NM_ 000179.2(MSH6): c.1901_ 1902delTG (p.Leu634Terfs)	deletion	Pathogenic	rs267608082	GRCh37	Chr 2, 48027023: 48027024
294	MSH6	NM_ 000179.2(MSH6): c.1957_ 1960dupGTGA (p.Met654Serfs)	duplication	Pathogenic	rs63751167	GRCh37	Chr 2, 48027079: 48027082
295	MSH6	NM_ 000179.2(MSH6): c.2045_ 2046delCT (p.Ser682Cysfs)	deletion	Pathogenic	rs267608057	GRCh37	Chr 2, 48027167: 48027168
296	MSH6	NM_ 000179.2(MSH6): c.2050_ 2051dupCT (p.Gly685Terfs)	duplication	Pathogenic	rs587779226	GRCh37	Chr 2, 48027172: 48027173
297	MSH6	NM_ 000179.2(MSH6): c.2061T> A (p.Cys687Ter)	SNV	Pathogenic	rs267608068	GRCh37	Chr 2, 48027183: 48027183
298	MSH6	NM_ 000179.2(MSH6): c.2062_ 2063delGT (p.Val688Leufs)	deletion	Pathogenic	rs63750075	GRCh37	Chr 2, 48027184: 48027185
299	MSH6	NM_ 000179.2(MSH6): c.2105C> G (p.Ser702Ter)	SNV	Pathogenic	rs63751419	GRCh37	Chr 2, 48027227: 48027227
300	MSH6	NM_ 000179.2(MSH6): c.2127T> A (p.Tyr709Ter)	SNV	Pathogenic	rs587779232	GRCh37	Chr 2, 48027249: 48027249
301	MSH6	NM_ 000179.2(MSH6): c.2150_ 2153delTCAG (p.Val717Alafs)	deletion	Pathogenic	rs267608058	GRCh37	Chr 2, 48027272: 48027275
302	MSH6	NM_ 000179.2(MSH6): c.2191C> T (p.Gln731Ter)	SNV	Pathogenic	rs63751442	GRCh37	Chr 2, 48027313: 48027313
303	MSH6	NM_ 000179.2(MSH6): c.2194C> T (p.Arg732Ter)	SNV	Pathogenic	rs63751127	GRCh37	Chr 2, 48027316: 48027316
304	MSH6	NM_ 000179.2(MSH6): c.2330G> A (p.Trp777Ter)	SNV	Pathogenic	rs587779234	GRCh37	Chr 2, 48027452: 48027452
305	MSH6	NM_ 000179.2(MSH6): c.2348_ 2349delGT (p.Cys783Terfs)	deletion	Pathogenic	rs267608065	GRCh37	Chr 2, 48027470: 48027471
306	MSH6	NM_ 000179.2(MSH6): c.2379_ 2380delTG (p.Ala794Hisfs)	deletion	Pathogenic	rs587779237	GRCh37	Chr 2, 48027501: 48027502
307	MSH6	NM_ 000179.2(MSH6): c.2503C> T (p.Gln835Ter)	SNV	Pathogenic	rs63751321	GRCh37	Chr 2, 48027625: 48027625
308	MSH6	NM_ 000179.2(MSH6): c.2535dupT (p.Glu846Terfs)	duplication	Pathogenic	rs587779241	GRCh37	Chr 2, 48027657: 48027657
309	MSH6	NM_ 000179.2(MSH6): c.2569_ 2572delGATT (p.Asp857Phefs)	deletion	Pathogenic	rs587779243	GRCh37	Chr 2, 48027691: 48027694
310	MSH6	NM_ 000179.2(MSH6): c.2611_ 2614dupATTA (p.Ile872Asnfs)	duplication	Pathogenic	rs63750357	GRCh37	Chr 2, 48027733: 48027736
311	MSH6	NM_ 000179.2(MSH6): c.2672_ 2674delTCTinsC (p.Ile891Thrfs)	indel	Pathogenic	rs587779244	GRCh37	Chr 2, 48027794: 48027796
312	MSH6	NM_ 000179.2(MSH6): c.2714T> A (p.Leu905Ter)	SNV	Pathogenic	rs587779245	GRCh37	Chr 2, 48027836: 48027836
313	MSH6	NM_ 000179.2(MSH6): c.2719_ 2720delGT (p.Val907Argfs)	deletion	Pathogenic	rs63750904	GRCh37	Chr 2, 48027841: 48027842
314	MSH6	NM_ 000179.2(MSH6): c.2731C> T (p.Arg911Ter)	SNV	Pathogenic	rs63751017	GRCh37	Chr 2, 48027853: 48027853
315	MSH6	NM_ 000179.2(MSH6): c.2764C> T (p.Arg922Ter)	SNV	Pathogenic	rs587779246	GRCh37	Chr 2, 48027886: 48027886
316	MSH6	NM_ 000179.2(MSH6): c.2765delG (p.Arg922Glnfs)	deletion	Pathogenic	rs587779247	GRCh37	Chr 2, 48027887: 48027887
317	MSH6	NM_ 000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)	duplication	Pathogenic	rs267608063	GRCh37	Chr 2, 48027890: 48027890
318	MSH6	NM_ 000179.2(MSH6): c.2815C> T (p.Gln939Ter)	SNV	Pathogenic	rs63750140	GRCh37	Chr 2, 48027937: 48027937
319	MSH6	NM_ 000179.2(MSH6): c.651dupT (p.Lys218Terfs)	duplication	Pathogenic	rs63750955	GRCh37	Chr 2, 48025773: 48025773
320	MSH6	NM_ 000179.2(MSH6): c.2851_ 2858delCTCCTGGA (p.Leu951Ilefs)	deletion	Pathogenic	rs63750940	GRCh37	Chr 2, 48027973: 48027980
321	MSH6	NM_ 000179.2(MSH6): c.2931C> G (p.Tyr977Ter)	SNV	Pathogenic	rs63750111	GRCh37	Chr 2, 48028053: 48028053
322	MSH6	NM_ 000179.2(MSH6): c.2945delC (p.Pro982Leufs)	deletion	Pathogenic	rs587779250	GRCh37	Chr 2, 48028067: 48028067
323	MSH6	NM_ 000179.2(MSH6): c.2976delA (p.Glu993Asnfs)	deletion	Pathogenic	rs587779251	GRCh37	Chr 2, 48028098: 48028098
324	MSH6	NM_ 000179.2(MSH6): c.2983G> T (p.Glu995Ter)	SNV	Pathogenic	rs63750258	GRCh37	Chr 2, 48028105: 48028105
325	MSH6	NM_ 000179.2(MSH6): c.2984delA (p.Glu995Glyfs)	deletion	Pathogenic	rs63749938	GRCh37	Chr 2, 48028106: 48028106
326	MSH6	NM_ 000179.2(MSH6): c.3013C> T (p.Arg1005Ter)	SNV	Pathogenic	rs63750563	GRCh37	Chr 2, 48028135: 48028135
327	MSH6	NM_ 000179.2(MSH6): c.3020G> A (p.Trp1007Ter)	SNV	Pathogenic	rs587779252	GRCh37	Chr 2, 48028142: 48028142
328	MSH6	NM_ 000179.2(MSH6): c.3053_ 3054delTC (p.Leu1018Hisfs)	deletion	Pathogenic	rs63751407	GRCh37	Chr 2, 48028175: 48028176
329	MSH6	NM_ 000179.2(MSH6): c.3067G> T (p.Glu1023Ter)	SNV	Pathogenic	rs267608059	GRCh37	Chr 2, 48028189: 48028189
330	MSH6	NM_ 000179.2(MSH6): c.3103C> T (p.Arg1035Ter)	SNV	Pathogenic	rs63749999	GRCh37	Chr 2, 48028225: 48028225
331	MSH6	NM_ 000179.2(MSH6): c.3119_ 3120delTT (p.Phe1040Terfs)	deletion	Pathogenic	rs267608042	GRCh37	Chr 2, 48028241: 48028242
332	MSH6	NM_ 000179.2(MSH6): c.3155_ 3156delAG (p.Glu1052Valfs)	deletion	Pathogenic	rs63750833	GRCh37	Chr 2, 48028277: 48028278
333	MSH6	NM_ 000179.2(MSH6): c.3172+1G> T	SNV	Likely pathogenic	rs587779255	GRCh37	Chr 2, 48028295: 48028295
334	MSH6	NM_ 000179.2(MSH6): c.3173-1_ 3173del	deletion	Pathogenic	rs587779256	GRCh37	Chr 2, 48030558: 48030559
335	MSH6	NM_ 000179.2(MSH6): c.3173-433_ 3556+228del	deletion	Pathogenic		GRCh37	Chr 2, 48030126: 48032394
336	MSH6	NM_ 000179.2(MSH6): c.3182delT (p.Leu1061Argfs)	deletion	Pathogenic	rs63750196	GRCh37	Chr 2, 48030568: 48030568
337	MSH6	NM_ 000179.2(MSH6): c.3195_ 3198delCTAT (p.Asn1065Lysfs)	deletion	Pathogenic	rs267608085	GRCh37	Chr 2, 48030581: 48030584
338	MSH6	NM_ 000179.2(MSH6): c.3198_ 3199dupTA (p.Ser1067Ilefs)	duplication	Pathogenic	rs63749821	GRCh37	Chr 2, 48030584: 48030585
339	MSH6	NM_ 000179.2(MSH6): c.3202C> T (p.Arg1068Ter)	SNV	Pathogenic	rs63749843	GRCh37	Chr 2, 48030588: 48030588
340	MSH6	NM_ 000179.2(MSH6): c.3221delT (p.Met1074Serfs)	deletion	Pathogenic	rs267608090	GRCh37	Chr 2, 48030607: 48030607
341	MSH6	NM_ 000179.2(MSH6): c.3259_ 3260insT (p.Pro1087Leufs)	insertion	Pathogenic	rs587779258	GRCh37	Chr 2, 48030645: 48030646
342	MSH6	NM_ 000179.2(MSH6): c.3261delC (p.Phe1088Serfs)	deletion	Pathogenic	rs267608078	GRCh37	Chr 2, 48030647: 48030647
343	MSH6	NM_ 000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)	duplication	Pathogenic	rs267608087	GRCh37	Chr 2, 48030647: 48030647
344	MSH6	NM_ 000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)	duplication	Pathogenic	rs267608091	GRCh37	Chr 2, 48030649: 48030649
345	MSH6	NM_ 000179.2(MSH6): c.3268_ 3274delGAGCTTA (p.Glu1090Lysfs)	deletion	Pathogenic	rs587779259	GRCh37	Chr 2, 48030654: 48030660
346	MSH6	NM_ 000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)	duplication	Pathogenic	rs267608095	GRCh37	Chr 2, 48030659: 48030659
347	MSH6	NM_ 000179.2(MSH6): c.3311_ 3312delTT (p.Phe1104Trpfs)	deletion	Pathogenic	rs267608092	GRCh37	Chr 2, 48030697: 48030698
348	MSH6	NM_ 000179.2(MSH6): c.3312delT (p.Phe1104Leufs)	deletion	Pathogenic	rs267608093	GRCh37	Chr 2, 48030698: 48030698
349	MSH6	NM_ 000179.2(MSH6): c.3320delA (p.Asp1107Valfs)	deletion	Pathogenic	rs63750377	GRCh37	Chr 2, 48030706: 48030706
350	MSH6	NM_ 000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)	duplication	Pathogenic	rs267608088	GRCh37	Chr 2, 48030710: 48030710
351	MSH6	NM_ 000179.2(MSH6): c.3341_ 3342insC (p.Ile1115Asnfs)	insertion	Pathogenic	rs587779260	GRCh37	Chr 2, 48030727: 48030728
352	MSH6	NM_ 000179.2(MSH6): c.3355G> T (p.Glu1119Ter)	SNV	Pathogenic	rs267608084	GRCh37	Chr 2, 48030741: 48030741
353	MSH6	NM_ 000179.2(MSH6): c.3367G> T (p.Glu1123Ter)	SNV	Pathogenic	rs267608086	GRCh37	Chr 2, 48030753: 48030753
354	MSH6	NM_ 000179.2(MSH6): c.3379_ 3438+5del65	deletion	Pathogenic		GRCh37	Chr 2, 48030765: 48030829
355	MSH6	NM_ 000179.2(MSH6): c.3436C> T (p.Gln1146Ter)	SNV	Pathogenic	rs63750356	GRCh37	Chr 2, 48030822: 48030822
356	MSH6	NM_ 000179.2(MSH6): c.3438+797_ 3438+798insTATins1839_ 3438+797	insertion	Pathogenic
357	MSH6	NM_ 000179.2(MSH6): c.3439-1G> T	SNV	Likely pathogenic	rs587779263	GRCh37	Chr 2, 48032048: 48032048
358	MSH6	NM_ 000179.2(MSH6): c.3439-2A> G	SNV	Likely pathogenic	rs267608098	GRCh37	Chr 2, 48032047: 48032047
359	MSH6	NM_ 000179.2(MSH6): c.3487G> T (p.Glu1163Ter)	SNV	Pathogenic	rs587779267	GRCh37	Chr 2, 48032097: 48032097
360	MSH6	NM_ 000179.2(MSH6): c.3511_ 3512delGA (p.Asp1171Terfs)	deletion	Pathogenic	rs63751410	GRCh37	Chr 2, 48032121: 48032122
361	MSH6	NM_ 000179.2(MSH6): c.3513_ 3514delTA (p.Asp1171Glufs)	deletion	Pathogenic	rs63750194	GRCh37	Chr 2, 48032123: 48032124
362	MSH6	NM_ 000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)	duplication	Pathogenic	rs63751327	GRCh37	Chr 2, 48032124: 48032124
363	MSH6	NM_ 000179.2(MSH6): c.3516_ 3519delAGTG (p.Arg1172Serfs)	deletion	Pathogenic	rs267608099	GRCh37	Chr 2, 48032126: 48032129
364	MSH6	NM_ 000179.2(MSH6): c.3519_ 3520insA (p.Phe1174Ilefs)	insertion	Pathogenic	rs63750296	GRCh37	Chr 2, 48032129: 48032130
365	MSH6	NM_ 000179.2(MSH6): c.3519_ 3522dupGTTT (p.Thr1175Valfs)	duplication	Pathogenic	rs267608101	GRCh37	Chr 2, 48032129: 48032132
366	MSH6	NM_ 000179.2(MSH6): c.3557-?_ (*93_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 48032167: 48034093
367	MSH6	NM_ 000179.2(MSH6): c.3609_ 3612delTGCA (p.His1203Glnfs)	deletion	Pathogenic	rs587779274	GRCh37	Chr 2, 48032809: 48032812
368	MSH6	NM_ 000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)	duplication	Pathogenic	rs63750731	GRCh37	Chr 2, 48032835: 48032835
369	MSH6	NM_ 000179.2(MSH6): c.3647-1G> A	SNV	Pathogenic	rs587779279	GRCh37	Chr 2, 48033342: 48033342
370	MSH6	NM_ 000179.2(MSH6): c.3647-2A> C	SNV	Pathogenic	rs267608111	GRCh37	Chr 2, 48033341: 48033341
371	MSH6	NM_ 000179.2(MSH6): c.3678_ 3706dup29 (p.Ala1236Glufs)	duplication	Pathogenic	rs63750523	GRCh37	Chr 2, 48033374: 48033402
372	MSH6	NM_ 000179.2(MSH6): c.3725_ 3737delGTACATTATTTTC (p.Arg1242Glnfs)	deletion	Pathogenic	rs587779287	GRCh37	Chr 2, 48033421: 48033433
373	MSH6	NM_ 000179.2(MSH6): c.3729_ 3732dupATTA (p.Phe1245Ilefs)	duplication	Pathogenic	rs587779288	GRCh37	Chr 2, 48033425: 48033428
374	MSH6	NM_ 000179.2(MSH6): c.3757_ 3758insA (p.Val1253Aspfs)	insertion	Pathogenic	rs587779289	GRCh37	Chr 2, 48033453: 48033454
375	MSH6	NM_ 000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)	SNV	Pathogenic	rs63751058	GRCh37	Chr 2, 48033464: 48033464
376	MSH6	NM_ 000179.2(MSH6): c.3772C> T (p.Gln1258Ter)	SNV	Pathogenic	rs63750554	GRCh37	Chr 2, 48033468: 48033468
377	MSH6	NM_ 000179.2(MSH6): c.3798_ 3801+26del	deletion	Pathogenic	rs587779291	GRCh37	Chr 2, 48033494: 48033523
378	MSH6	NM_ 000179.2(MSH6): c.3799_ 3800delAT (p.Met1267Glyfs)	deletion	Pathogenic	rs267608114	GRCh37	Chr 2, 48033495: 48033496
379	MSH6	NM_ 000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)	duplication	Pathogenic	rs267608118	GRCh37	Chr 2, 48033593: 48033593
380	MSH6	NM_ 000179.2(MSH6): c.3821_ 3824dupAATG (p.Cys1275Terfs)	duplication	Pathogenic	rs63750262	GRCh37	Chr 2, 48033610: 48033613
381	MSH6	NM_ 000179.2(MSH6): c.3838C> T (p.Gln1280Ter)	SNV	Pathogenic	rs63750139	GRCh37	Chr 2, 48033627: 48033627
382	MSH6	NM_ 000179.2(MSH6): c.3840_ 3846delGGAGACT (p.Glu1281Leufs)	deletion	Pathogenic	rs63751319	GRCh37	Chr 2, 48033629: 48033635
383	MSH6	NM_ 000179.2(MSH6): c.3847_ 3850dupATTA (p.Thr1284Asnfs)	duplication	Pathogenic	rs267608128	GRCh37	Chr 2, 48033636: 48033639
384	MSH6	NM_ 000179.2(MSH6): c.3887_ 3893delAAAGCTA (p.Lys1296Metfs)	deletion	Pathogenic	rs267608130	GRCh37	Chr 2, 48033676: 48033682
385	MSH6	NM_ 000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)	duplication	Pathogenic	rs587779295	GRCh37	Chr 2, 48033707: 48033707
386	MSH6	NM_ 000179.2(MSH6): c.3920_ 3927dupATCTCCCA (p.Glu1310Ilefs)	duplication	Pathogenic	rs587779296	GRCh37	Chr 2, 48033709: 48033716
387	MSH6	NM_ 000179.2(MSH6): c.3932_ 3935dupAAGT (p.Ile1313Serfs)	duplication	Pathogenic	rs267608127	GRCh37	Chr 2, 48033721: 48033724
388	MSH6	NM_ 000179.2(MSH6): c.3938_ 3941dupTTCA (p.Gln1314Hisfs)	duplication	Pathogenic	rs267608126	GRCh37	Chr 2, 48033727: 48033730
389	MSH6	NM_ 000179.2(MSH6): c.3939_ 3957dup19 (p.Ala1320Serfs)	duplication	Pathogenic	rs63750767	GRCh37	Chr 2, 48033728: 48033746
390	MSH6	NM_ 000179.2(MSH6): c.3953_ 3954ins32 (p.?)	insertion	Pathogenic	rs587779297	GRCh37	Chr 2, 48033742: 48033743
391	MSH6	NM_ 000179.2(MSH6): c.3959_ 3962delCAAG (p.Ala1320Glufs)	deletion	Pathogenic	rs267608120	GRCh37	Chr 2, 48033748: 48033751
392	MSH6	NM_ 000179.2(MSH6): c.3969_ 3979delTGAGAAGATGA (p.Phe1323Leufs)	deletion	Pathogenic	rs587779299	GRCh37	Chr 2, 48033758: 48033768
393	MSH6	NM_ 000179.2(MSH6): c.3984_ 3985insATCA (p.Ser1329Ilefs)	insertion	Pathogenic	rs267608124	GRCh37	Chr 2, 48033773: 48033774
394	MSH6	NM_ 000179.2 (MSH6): c.3984_ 3987dupGTCA (p.Leu1330Valfs)	duplication	Pathogenic	rs267608121	GRCh37	Chr 2, 48033773: 48033776
395	MSH6	NM_ 000179.2(MSH6): c.3996_ 4000dupATTTC (p.Arg1334Hisfs)	duplication	Pathogenic	rs587779301	GRCh37	Chr 2, 48033785: 48033789
396	MSH6	NM_ 000179.2(MSH6): c.4001+2T> C	SNV	Pathogenic	rs267608131	GRCh37	Chr 2, 48033792: 48033792
397	MSH6	NM_ 000179.2(MSH6): c.4001G> A (p.Arg1334Gln)	SNV	Pathogenic	rs267608122	GRCh37	Chr 2, 48033790: 48033790
398	MSH6	NM_ 000179.2(MSH6): c.4002-31_ 4002-8inv	inversion	Pathogenic		GRCh37	Chr 2, 48033887: 48033910
399	MSH6	NM_ 000179.2(MSH6): c.426G> A (p.Trp142Ter)	SNV	Pathogenic	rs63750342	GRCh37	Chr 2, 48018231: 48018231
400	MSH6	NM_ 000179.2(MSH6): c.457+2T> A	SNV	Pathogenic	rs267608036	GRCh37	Chr 2, 48018264: 48018264
401	MSH6	NM_ 000179.2(MSH6): c.458-?_ 627+?del	deletion	Pathogenic
402	MSH6	NM_ 000179.2(MSH6): c.467C> G (p.Ser156Ter)	SNV	Pathogenic	rs63749873	GRCh37	Chr 2, 48023042: 48023042
403	MSH6	NM_ 000179.2(MSH6): c.522_ 523delAG (p.Arg174Serfs)	deletion	Pathogenic	rs267608037	GRCh37	Chr 2, 48023097: 48023098
404	MSH6	NM_ 000179.2(MSH6): c.599C> A (p.Ser200Ter)	SNV	Pathogenic	rs63751077	GRCh37	Chr 2, 48023174: 48023174
405	MSH6	NM_ 000179.2(MSH6): c.642C> A (p.Tyr214Ter)	SNV	Pathogenic	rs1800937	GRCh37	Chr 2, 48025764: 48025764
406	MSH6	NM_ 000179.2(MSH6): c.642C> G (p.Tyr214Ter)	SNV	Pathogenic	rs1800937	GRCh37	Chr 2, 48025764: 48025764
407	MSH6	NM_ 000179.2(MSH6): c.652A> T (p.Lys218Ter)	SNV	Pathogenic	rs587779315	GRCh37	Chr 2, 48025774: 48025774
408	MSH6	NM_ 000179.2(MSH6): c.694C> T (p.Gln232Ter)	SNV	Pathogenic	rs587779318	GRCh37	Chr 2, 48025816: 48025816
409	MSH6	NM_ 000179.2(MSH6): c.706C> T (p.Gln236Ter)	SNV	Pathogenic	rs63750996	GRCh37	Chr 2, 48025828: 48025828
410	MSH6	NM_ 000179.2(MSH6): c.710delG (p.Gly237Aspfs)	deletion	Pathogenic	rs587779319	GRCh37	Chr 2, 48025832: 48025832
411	MSH6	NM_ 000179.2(MSH6): c.718C> T (p.Arg240Ter)	SNV	Pathogenic	rs63750019	GRCh37	Chr 2, 48025840: 48025840
412	MSH6	NM_ 000179.2(MSH6): c.730C> T (p.Gln244Ter)	SNV	Pathogenic	rs267608066	GRCh37	Chr 2, 48025852: 48025852
413	MSH6	NM_ 000179.2(MSH6): c.738_ 739insT (p.Lys247Terfs)	insertion	Pathogenic	rs587779320	GRCh37	Chr 2, 48025860: 48025861
414	MSH6	NM_ 000179.2(MSH6): c.742C> T (p.Arg248Ter)	SNV	Pathogenic	rs63749980	GRCh37	Chr 2, 48025864: 48025864
415	MSH6	NM_ 000179.2(MSH6): c.755C> G (p.Ser252Ter)	SNV	Pathogenic	rs267608048	GRCh37	Chr 2, 48025877: 48025877
416	MSH6	NM_ 000179.2(MSH6): c.762_ 763delTG (p.Ser256Terfs)	deletion	Pathogenic	rs267608072	GRCh37	Chr 2, 48025884: 48025885
417	MSH6	NM_ 000179.2(MSH6): c.814G> T (p.Glu272Ter)	SNV	Pathogenic	rs63750552	GRCh37	Chr 2, 48025936: 48025936
418	MSH6	NM_ 000179.2(MSH6): c.845dupT (p.Asp284Glyfs)	duplication	Pathogenic	rs267608062	GRCh37	Chr 2, 48025967: 48025967
419	MSH6	NM_ 000179.2(MSH6): c.892C> T (p.Arg298Ter)	SNV	Pathogenic	rs146816935	GRCh37	Chr 2, 48026014: 48026014
420	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ (*193_ ?)del	deletion	Pathogenic		GRCh38	Chr 3, 36993350: 37050846
421	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ 116+?del	deletion	Pathogenic		GRCh37	Chr 3, 37034841: 37035154
422	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?del	deletion	Pathogenic		GRCh37	Chr 3, 37034840: 37070424
423	MLH1	MLH1: c.(?_ -198)_ 207+?del	deletion	Pathogenic		GRCh37	Chr 3, 37034841: 37038200
424	MLH1	MLH1: c.(?_ -198)_ 306+?del	deletion	Pathogenic		GRCh38	Chr 3, 36993350: 37001053
425	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ 545+?del	deletion	Pathogenic		GRCh37	Chr 3, 37034841: 37050396
426	MLH1	NM_ 000249.3(MLH1): c.(?_ -198)_ 884+?del	deletion	Pathogenic		GRCh37	Chr 3, 37034841: 37059090
427	MLH1	NM_ 000249.3(MLH1): c.-381_ 207+606del	deletion	Pathogenic		GRCh37	Chr 3, 37034658: 37038806
428	MLH1	NM_ 000249.3(MLH1): c.-54519_ 1731+2263del	deletion	Pathogenic		GRCh38	Chr 3, 36939029: 37044594
429	MLH1	NM_ 000249.3(MLH1): c.-73960_ *46597del	deletion	Pathogenic
430	MLH1	NM_ 000249.3(MLH1): c.1007delG (p.Gly336Alafs)	deletion	Pathogenic	rs63750434	GRCh37	Chr 3, 37061923: 37061923
431	MLH1	NM_ 000249.3(MLH1): c.1011delC (p.Asn338Ilefs)	deletion	Pathogenic	rs63750853	GRCh37	Chr 3, 37061927: 37061927
432	MLH1	NM_ 000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)	duplication	Pathogenic	rs63750677	GRCh37	Chr 3, 37061927: 37061927
433	MLH1	NM_ 000249.3(MLH1): c.1017delC (p.Ser340Profs)	deletion	Pathogenic	rs63750339	GRCh37	Chr 3, 37061933: 37061933
434	MLH1	NM_ 000249.3(MLH1): c.1023delG (p.Met342Cysfs)	deletion	Pathogenic	rs63749837	GRCh37	Chr 3, 37061939: 37061939
435	MLH1	NM_ 000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)	duplication	Pathogenic	rs587778881	GRCh37	Chr 3, 37061942: 37061942
436	MLH1	NM_ 000249.3(MLH1): c.102_ 103delGA (p.Glu34Aspfs)	deletion	Pathogenic	rs63749813	GRCh37	Chr 3, 37035140: 37035141
437	MLH1	NM_ 000249.3(MLH1): c.1038G> A (p.Gln346=)	SNV	Pathogenic	rs63751715	GRCh37	Chr 3, 37061954: 37061954
438	MLH1	NM_ 000249.3(MLH1): c.1038G> C (p.Gln346His)	SNV	Pathogenic	rs63751715	GRCh37	Chr 3, 37061954: 37061954
439	MLH1	NM_ 000249.3(MLH1): c.1038G> T (p.Gln346His)	SNV	Pathogenic	rs63751715	GRCh37	Chr 3, 37061954: 37061954
440	MLH1	NM_ 000249.3(MLH1): c.1039-1G> A	SNV	Pathogenic	rs267607819	GRCh37	Chr 3, 37067127: 37067127
441	MLH1	NM_ 000249.3(MLH1): c.1039-2329_ 1409+827del	deletion	Pathogenic		GRCh37	Chr 3, 37064799: 37068325
442	MLH1	NM_ 000249.3(MLH1): c.1039-675_ 1409+26del	deletion	Pathogenic		GRCh37	Chr 3, 37066453: 37067524
443	MLH1	NM_ 000249.3(MLH1): c.1039-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37067128: 37092337
444	MLH1	NM_ 000249.3(MLH1): c.1039-?_ 1409+?del	deletion	Pathogenic		GRCh37	Chr 3, 37067128: 37067498
445	MLH1	NM_ 000249.3(MLH1): c.1039-?_ 1558+?del	deletion	Pathogenic
446	MLH1	NM_ 000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)	duplication	Pathogenic	rs267607822	GRCh37	Chr 3, 37067135: 37067135
447	MLH1	NM_ 000249.3(MLH1): c.104T> G (p.Met35Arg)	SNV	Pathogenic	rs63749906	GRCh37	Chr 3, 37035142: 37035142
448	MLH1	NM_ 000249.3(MLH1): c.104_ 105insAA (p.Met35Ilefs)	insertion	Pathogenic	rs587778882	GRCh37	Chr 3, 37035142: 37035143
449	MLH1	NM_ 000249.3(MLH1): c.1050delA (p.Gly351Aspfs)	deletion	Pathogenic	rs587778883	GRCh37	Chr 3, 37067139: 37067139
450	MLH1	NM_ 000249.3(MLH1): c.1061delG (p.Gly354Alafs)	deletion	Pathogenic	rs63750472	GRCh37	Chr 3, 37067150: 37067150
451	MLH1	NM_ 000249.3(MLH1): c.1071_ 1078delGGAGATGG (p.Glu358Terfs)	deletion	Pathogenic	rs587778884	GRCh37	Chr 3, 37067160: 37067167
452	MLH1	NM_ 000249.3(MLH1): c.1072delG (p.Glu358Argfs)	deletion	Pathogenic	rs587778885	GRCh37	Chr 3, 37067161: 37067161
453	MLH1	NM_ 000249.3(MLH1): c.109G> T (p.Glu37Ter)	SNV	Pathogenic	rs63751012	GRCh37	Chr 3, 37035147: 37035147
454	MLH1	NM_ 000249.3(MLH1): c.1101delC (p.Ser368Argfs)	deletion	Pathogenic	rs63750715	GRCh37	Chr 3, 37067190: 37067190
455	MLH1	NM_ 000249.3(MLH1): c.1128_ 1129dupTA (p.Lys377Ilefs)	duplication	Pathogenic	rs63750305	GRCh37	Chr 3, 37067217: 37067218
456	MLH1	NM_ 000249.3(MLH1): c.112A> C (p.Asn38His)	SNV	Pathogenic	rs63750580	GRCh37	Chr 3, 37035150: 37035150
457	MLH1	NM_ 000249.3(MLH1): c.1132_ 1134delGTCinsA (p.Val378Ilefs)	indel	Pathogenic	rs587778887	GRCh37	Chr 3, 37067221: 37067223
458	MLH1	NM_ 000249.3(MLH1): c.113A> G (p.Asn38Ser)	SNV	Pathogenic	rs587778888	GRCh37	Chr 3, 37035151: 37035151
459	MLH1	NM_ 000249.3(MLH1): c.1145dupA (p.Met383Aspfs)	duplication	Pathogenic	rs587778889	GRCh37	Chr 3, 37067234: 37067234
460	MLH1	NM_ 000249.3(MLH1): c.114C> G (p.Asn38Lys)	SNV	Pathogenic	rs267607706	GRCh37	Chr 3, 37035152: 37035152
461	MLH1	NM_ 000249.3(MLH1): c.1150delG (p.Val384Phefs)	deletion	Pathogenic	rs63749965	GRCh37	Chr 3, 37067239: 37067239
462	MLH1	NM_ 000249.3(MLH1): c.116+5G> C	SNV	Pathogenic	rs267607710	GRCh37	Chr 3, 37035159: 37035159
463	MLH1	NM_ 000249.3(MLH1): c.1163_ 1164ins4	insertion	Pathogenic	rs587778893	GRCh37	Chr 3, 37067252: 37067253
464	MLH1	NM_ 000249.3(MLH1): c.116G> A (p.Cys39Tyr)	SNV	Likely pathogenic	rs63751701	GRCh37	Chr 3, 37035154: 37035154
465	MLH1	NM_ 000249.3(MLH1): c.117-691_ 306+1011del	deletion	Pathogenic		GRCh37	Chr 3, 37037419: 37043555
466	MLH1	NM_ 000249.3(MLH1): c.117-707_ 545+1338delinsTCCCGGGTTCAAGCGATTCT	indel	Pathogenic		GRCh37	Chr 3, 37037403: 37051734
467	MLH1	NM_ 000249.3(MLH1): c.117-?_ 207+?del	deletion	Pathogenic
468	MLH1	NM_ 000249.3(MLH1): c.117-?_ 380+?del	deletion	Pathogenic
469	MLH1	NM_ 000249.3(MLH1): c.117-?_ 545+?del	deletion	Pathogenic
470	MLH1	NM_ 000249.3(MLH1): c.1171C> T (p.Gln391Ter)	SNV	Pathogenic	rs587778894	GRCh37	Chr 3, 37067260: 37067260
471	MLH1	NM_ 000249.3(MLH1): c.1190delT (p.Leu397Argfs)	deletion	Pathogenic	rs63750749	GRCh37	Chr 3, 37067279: 37067279
472	MLH1	NM_ 000249.3(MLH1): c.1192C> T (p.Gln398Ter)	SNV	Pathogenic	rs63750483	GRCh37	Chr 3, 37067281: 37067281
473	MLH1	NM_ 000249.3(MLH1): c.119delT (p.Leu40Terfs)	deletion	Pathogenic	rs587778896	GRCh37	Chr 3, 37038112: 37038112
474	MLH1	NM_ 000249.3(MLH1): c.1210_ 1211delCT (p.Leu404Valfs)	deletion	Pathogenic	rs63751015	GRCh37	Chr 3, 37067299: 37067300
475	MLH1	NM_ 000249.3(MLH1): c.1210dupC (p.Leu404Profs)	duplication	Pathogenic	rs587778898	GRCh37	Chr 3, 37067299: 37067299
476	MLH1	NM_ 000249.3(MLH1): c.1217_ 1223dupGTCAGCC (p.Gln409Serfs)	duplication	Pathogenic	rs587778899	GRCh37	Chr 3, 37067306: 37067312
477	MLH1	NM_ 000249.3(MLH1): c.1218delT (p.Gln407Serfs)	deletion	Pathogenic	rs587778900	GRCh37	Chr 3, 37067307: 37067307
478	MLH1	NM_ 000249.3(MLH1): c.121G> C (p.Asp41His)	SNV	Likely pathogenic	rs267607713	GRCh37	Chr 3, 37038114: 37038114
479	MLH1	NM_ 000249.3(MLH1): c.1225C> T (p.Gln409Ter)	SNV	Pathogenic	rs63751153	GRCh37	Chr 3, 37067314: 37067314
480	MLH1	NM_ 000249.3(MLH1): c.122A> G (p.Asp41Gly)	SNV	Pathogenic	rs63751094	GRCh37	Chr 3, 37038115: 37038115
481	MLH1	NM_ 000249.3(MLH1): c.1252_ 1253delGA (p.Asp418Tyrfs)	deletion	Pathogenic	rs63751118	GRCh37	Chr 3, 37067341: 37067342
482	MLH1	NM_ 000249.3(MLH1): c.1261delA (p.Ser421Valfs)	deletion	Pathogenic	rs63750293	GRCh37	Chr 3, 37067350: 37067350
483	MLH1	NM_ 000249.3(MLH1): c.1276C> T (p.Gln426Ter)	SNV	Pathogenic	rs63750316	GRCh37	Chr 3, 37067365: 37067365
484	MLH1	NM_ 000249.3(MLH1): c.128_ 131dupAATC (p.Thr45Ilefs)	duplication	Pathogenic	rs63751431	GRCh37	Chr 3, 37038121: 37038124
485	MLH1	NM_ 000249.3(MLH1): c.1310delC (p.Pro437Leufs)	deletion	Pathogenic	rs63750748	GRCh37	Chr 3, 37067399: 37067399
486	MLH1	NM_ 000249.3(MLH1): c.1325_ 1346del22ins5	indel	Pathogenic	rs587778903	GRCh37	Chr 3, 37067414: 37067435
487	MLH1	NM_ 000249.3(MLH1): c.1334delA (p.Gln445Argfs)	deletion	Pathogenic	rs63749845	GRCh37	Chr 3, 37067423: 37067423
488	MLH1	NM_ 000249.3(MLH1): c.1343delA (p.Glu448Glyfs)	deletion	Pathogenic	rs63749981	GRCh37	Chr 3, 37067432: 37067432
489	MLH1	NM_ 000249.3(MLH1): c.1347_ 1367del21insTAAA (p.Asp450Lysfs)	indel	Pathogenic	rs587778905	GRCh37	Chr 3, 37067436: 37067456
490	MLH1	NM_ 000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)	duplication	Pathogenic	rs587778906	GRCh37	Chr 3, 37067437: 37067437
491	MLH1	NM_ 000249.3(MLH1): c.1354delA (p.Thr452Glnfs)	deletion	Pathogenic	rs63750071	GRCh37	Chr 3, 37067443: 37067443
492	MLH1	NM_ 000249.3(MLH1): c.1362delG (p.Thr455Leufs)	deletion	Pathogenic	rs587778907	GRCh37	Chr 3, 37067451: 37067451
493	MLH1	NM_ 000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)	duplication	Pathogenic	rs267607821	GRCh37	Chr 3, 37067451: 37067451
494	MLH1	NM_ 000249.3(MLH1): c.1377delA (p.Glu460Argfs)	deletion	Pathogenic	rs587778908	GRCh37	Chr 3, 37067466: 37067466
495	MLH1	NM_ 000249.3(MLH1): c.1377dupA (p.Glu460Argfs)	duplication	Pathogenic	rs63750020	GRCh37	Chr 3, 37067466: 37067466
496	MLH1	NM_ 000249.3(MLH1): c.1380_ 1381delGA (p.Lys461Glufs)	deletion	Pathogenic	rs587778909	GRCh37	Chr 3, 37067469: 37067470
497	MLH1	NM_ 000249.3(MLH1): c.1398delC (p.Ser467Alafs)	deletion	Pathogenic	rs63750713	GRCh37	Chr 3, 37067487: 37067487
498	MLH1	NM_ 000249.3(MLH1): c.1409+1127_ 1558+4255del	deletion	Pathogenic		GRCh37	Chr 3, 37068625: 37074678
499	MLH1	NM_ 000249.3(MLH1): c.1409+1156_ 1558+1385del	deletion	Pathogenic		GRCh37	Chr 3, 37068654: 37071808
500	MLH1	NM_ 000249.3(MLH1): c.1409+1G> A	SNV	Likely pathogenic	rs267607825	GRCh37	Chr 3, 37067499: 37067499
501	MLH1	NM_ 000249.3(MLH1): c.1409+1G> C	SNV	Pathogenic	rs267607825	GRCh37	Chr 3, 37067499: 37067499
502	MLH1	NM_ 000249.3(MLH1): c.1410-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37070275: 37092337
503	MLH1	NM_ 000249.3(MLH1): c.1410-?_ 1558+?del	deletion	Pathogenic
504	MLH1	NM_ 000249.3(MLH1): c.1410-?_ 1731+?del	deletion	Pathogenic
505	MLH1	NM_ 000249.3(MLH1): c.1411_ 1414delAAGA (p.Lys471Aspfs)	deletion	Pathogenic	rs63751592	GRCh37	Chr 3, 37070276: 37070279
506	MLH1	NM_ 000249.3(MLH1): c.1412dupA (p.Arg472Glufs)	duplication	Pathogenic	rs63751677	GRCh37	Chr 3, 37070277: 37070277
507	MLH1	NM_ 000249.3(MLH1): c.1413_ 1416delGAGA (p.Lys471Asnfs)	deletion	Pathogenic	rs281864936	GRCh37	Chr 3, 37070278: 37070281
508	MLH1	NM_ 000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)	duplication	Pathogenic	rs63751468	GRCh37	Chr 3, 37070279: 37070279
509	MLH1	NM_ 000249.3(MLH1): c.1415_ 1416delGA (p.Arg472Thrfs)	deletion	Pathogenic	rs281864937	GRCh37	Chr 3, 37070280: 37070281
510	MLH1	NM_ 000249.3(MLH1): c.1415_ 1427delGACATCGGGAAGA (p.Arg472Ilefs)	deletion	Pathogenic	rs587778912	GRCh37	Chr 3, 37070280: 37070292
511	MLH1	NM_ 000249.3(MLH1): c.1420delC (p.Arg474Glyfs)	deletion	Pathogenic	rs63750482	GRCh37	Chr 3, 37070285: 37070285
512	MLH1	NM_ 000249.3(MLH1): c.142C> T (p.Gln48Ter)	SNV	Pathogenic	rs587778913	GRCh37	Chr 3, 37038135: 37038135
513	MLH1	NM_ 000249.3(MLH1): c.1449delA (p.Asp484Metfs)	deletion	Pathogenic	rs587778915	GRCh37	Chr 3, 37070314: 37070314
514	MLH1	NM_ 000249.3(MLH1): c.1459C> T (p.Arg487Ter)	SNV	Pathogenic	rs63749795	GRCh37	Chr 3, 37070324: 37070324
515	MLH1	NM_ 000249.3(MLH1): c.1462A> T (p.Lys488Ter)	SNV	Pathogenic	rs587778918	GRCh37	Chr 3, 37070327: 37070327
516	MLH1	NM_ 000249.3(MLH1): c.1463delA (p.Lys488Argfs)	deletion	Pathogenic	rs63749876	GRCh37	Chr 3, 37070328: 37070328
517	MLH1	NM_ 000249.3(MLH1): c.1464_ 1468delGGAAA (p.Lys488Asnfs)	deletion	Pathogenic	rs587778919	GRCh37	Chr 3, 37070329: 37070333
518	MLH1	NM_ 000249.3(MLH1): c.146T> A (p.Val49Glu)	SNV	Pathogenic	rs63750098	GRCh37	Chr 3, 37038139: 37038139
519	MLH1	NM_ 000249.3(MLH1): c.1489delC (p.Arg497Glyfs)	deletion	Pathogenic	rs63750855	GRCh37	Chr 3, 37070354: 37070354
520	MLH1	NM_ 000249.3(MLH1): c.1489dupC (p.Arg497Profs)	duplication	Pathogenic	rs63751031	GRCh37	Chr 3, 37070354: 37070354
521	MLH1	NM_ 000249.3(MLH1): c.1491delG (p.Arg498Glufs)	deletion	Pathogenic	rs63751435	GRCh37	Chr 3, 37070356: 37070356
522	MLH1	NM_ 000249.3(MLH1): c.150dupT (p.Val51Cysfs)	duplication	Pathogenic	rs63749956	GRCh37	Chr 3, 37038143: 37038143
523	MLH1	NM_ 000249.3(MLH1): c.1520delT (p.Leu507Terfs)	deletion	Pathogenic	rs587778921	GRCh37	Chr 3, 37070385: 37070385
524	MLH1	NM_ 000249.3(MLH1): c.1520dupT (p.Leu507Phefs)	duplication	Pathogenic	rs63749916	GRCh37	Chr 3, 37070385: 37070385
525	MLH1	NM_ 000249.3(MLH1): c.1528C> T (p.Gln510Ter)	SNV	Pathogenic	rs63749923	GRCh37	Chr 3, 37070393: 37070393
526	MLH1	NM_ 000249.3(MLH1): c.1534G> T (p.Glu512Ter)	SNV	Pathogenic	rs63751472	GRCh37	Chr 3, 37070399: 37070399
527	MLH1	NM_ 000249.3(MLH1): c.153dupT (p.Lys52Terfs)	duplication	Pathogenic	rs587778922	GRCh37	Chr 3, 37038146: 37038146
528	MLH1	NM_ 000249.3(MLH1): c.1542dupT (p.Glu515Terfs)	duplication	Pathogenic	rs63750317	GRCh37	Chr 3, 37070407: 37070407
529	MLH1	NM_ 000249.3(MLH1): c.1549G> T (p.Gly517Ter)	SNV	Pathogenic	rs63751705	GRCh37	Chr 3, 37070414: 37070414
530	MLH1	NM_ 000249.3(MLH1): c.1552_ 1553insT (p.His518Leufs)	insertion	Pathogenic	rs587778924	GRCh37	Chr 3, 37070417: 37070418
531	MLH1	NM_ 000249.3(MLH1): c.1552delC (p.His518Metfs)	deletion	Pathogenic	rs587778925	GRCh37	Chr 3, 37070417: 37070417
532	MLH1	NM_ 000249.3(MLH1): c.1554dupT (p.Glu519Terfs)	duplication	Pathogenic	rs63751689	GRCh37	Chr 3, 37070419: 37070419
533	MLH1	NM_ 000249.3(MLH1): c.1557_ 1558insT (p.Val520Cysfs)	insertion	Pathogenic	rs587778926	GRCh37	Chr 3, 37070422: 37070423
534	MLH1	NM_ 000249.3(MLH1): c.1558+1G> T	SNV	Pathogenic	rs267607832	GRCh37	Chr 3, 37070424: 37070424
535	MLH1	NM_ 000249.3(MLH1): c.1559-1322_ 1668-391del	deletion	Pathogenic		GRCh37	Chr 3, 37080355: 37083368
536	MLH1	NM_ 000249.3(MLH1): c.1559-1G> T	SNV	Pathogenic	rs267607837	GRCh37	Chr 3, 37081676: 37081676
537	MLH1	NM_ 000249.3(MLH1): c.1559-2A> C	SNV	Likely pathogenic	rs267607836	GRCh37	Chr 3, 37081675: 37081675
538	MLH1	NM_ 000249.3(MLH1): c.1559-2A> G	SNV	Pathogenic	rs267607836	GRCh37	Chr 3, 37081675: 37081675
539	MLH1	NM_ 000249.3(MLH1): c.1559-2A> T	SNV	Pathogenic	rs267607836	GRCh37	Chr 3, 37081675: 37081675
540	MLH1	NM_ 000249.3(MLH1): c.1559-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37081677: 37092337
541	MLH1	NM_ 000249.3(MLH1): c.1559-?_ 1667+?del	deletion	Pathogenic
542	MLH1	NM_ 000249.3(MLH1): c.1559-?_ 1731+?del	deletion	Pathogenic
543	MLH1	NM_ 000249.3(MLH1): c.155_ 158delAAGA (p.Lys52Argfs)	deletion	Pathogenic	rs587778923	GRCh37	Chr 3, 37038148: 37038151
544	MLH1	NM_ 000249.3(MLH1): c.156delA (p.Glu53Argfs)	deletion	Pathogenic	rs587778927	GRCh37	Chr 3, 37038149: 37038149
545	MLH1	NM_ 000249.3(MLH1): c.156dupA (p.Glu53Argfs)	duplication	Pathogenic	rs63750028	GRCh37	Chr 3, 37038149: 37038149
546	MLH1	NM_ 000249.3(MLH1): c.1572_ 1573delGT (p.Met524Ilefs)	deletion	Pathogenic	rs587778928	GRCh37	Chr 3, 37081690: 37081691
547	MLH1	NM_ 000249.3(MLH1): c.1573_ 1574delTT (p.Leu525Alafs)	deletion	Pathogenic	rs63751613	GRCh37	Chr 3, 37081691: 37081692
548	MLH1	NM_ 000249.3(MLH1): c.1574T> A (p.Leu525Ter)	SNV	Pathogenic	rs587778929	GRCh37	Chr 3, 37081692: 37081692
549	MLH1	NM_ 000249.3(MLH1): c.1588_ 1590delTTC (p.Phe530del)	deletion	Pathogenic	rs587778930	GRCh37	Chr 3, 37081706: 37081708
550	MLH1	NM_ 000249.3(MLH1): c.1592_ 1593delTG (p.Val531Glyfs)	deletion	Pathogenic	rs587778931	GRCh37	Chr 3, 37081710: 37081711
551	MLH1	NM_ 000249.3(MLH1): c.15_ 28delAGGGGTTATTCGGC (p.Gly6Alafs)	deletion	Pathogenic	rs63751891	GRCh37	Chr 3, 37035053: 37035066
552	MLH1	NM_ 000249.3(MLH1): c.1609C> T (p.Gln537Ter)	SNV	Pathogenic	rs63751277	GRCh37	Chr 3, 37081727: 37081727
553	MLH1	NM_ 000249.3(MLH1): c.1613G> A (p.Trp538Ter)	SNV	Pathogenic	rs587778933	GRCh37	Chr 3, 37081731: 37081731
554	MLH1	NM_ 000249.3(MLH1): c.1614G> A (p.Trp538Ter)	SNV	Pathogenic	rs267607842	GRCh37	Chr 3, 37081732: 37081732
555	MLH1	NM_ 000249.3(MLH1): c.161_ 164delGAGG (p.Gly54Alafs)	deletion	Pathogenic	rs587778932	GRCh37	Chr 3, 37038154: 37038157
556	MLH1	NM_ 000249.3(MLH1): c.161delG (p.Gly54Glufs)	deletion	Pathogenic	rs63751266	GRCh37	Chr 3, 37038154: 37038154
557	MLH1	NM_ 000249.3(MLH1): c.1620_ 1621delGG (p.Leu540Phefs)	deletion	Pathogenic	rs63750036	GRCh37	Chr 3, 37081738: 37081739
558	MLH1	NM_ 000249.3(MLH1): c.1622delC (p.Ala541Aspfs)	deletion	Pathogenic	rs63750824	GRCh37	Chr 3, 37081740: 37081740
559	MLH1	NM_ 000249.3(MLH1): c.1624C> T (p.Gln542Ter)	SNV	Pathogenic	rs63750192	GRCh37	Chr 3, 37081742: 37081742
560	MLH1	NM_ 000249.3(MLH1): c.1639_ 1643dupTTATA (p.Leu549Tyrfs)	duplication	Pathogenic	rs587778934	GRCh37	Chr 3, 37081757: 37081761
561	MLH1	NM_ 000249.3(MLH1): c.1640T> A (p.Leu547Ter)	SNV	Pathogenic	rs63750300	GRCh37	Chr 3, 37081758: 37081758
562	MLH1	NM_ 000249.3(MLH1): c.1644C> G (p.Tyr548Ter)	SNV	Pathogenic	rs63751087	GRCh37	Chr 3, 37081762: 37081762
563	MLH1	NM_ 000249.3(MLH1): c.1664_ 1665insAAGT (p.Glu557Terfs)	insertion	Pathogenic	rs267607699	GRCh37	Chr 3, 37081782: 37081783
564	MLH1	NM_ 000249.3(MLH1): c.1667+2_ 1667+8delinsATTT	indel	Pathogenic	rs587778938	GRCh37	Chr 3, 37081787: 37081793
565	MLH1	NM_ 000249.3(MLH1): c.1667G> T (p.Ser556Ile)	SNV	Pathogenic	rs63751596	GRCh37	Chr 3, 37081785: 37081785
566	MLH1	NM_ 000249.3(MLH1): c.1668-1G> A	SNV	Likely pathogenic	rs267607845	GRCh37	Chr 3, 37083758: 37083758
567	MLH1	NM_ 000249.3(MLH1): c.1668-?_ 1731+?del	deletion	Pathogenic
568	MLH1	NM_ 000249.3(MLH1): c.1668-?_ 1896+?del	deletion	Pathogenic
569	MLH1	NM_ 000249.3(MLH1): c.1668delT (p.Ser556Argfs)	deletion	Pathogenic	rs587778939	GRCh37	Chr 3, 37083759: 37083759
570	MLH1	NM_ 000249.3(MLH1): c.1669G> T (p.Glu557Ter)	SNV	Pathogenic	rs63751244	GRCh37	Chr 3, 37083760: 37083760
571	MLH1	NM_ 000249.3(MLH1): c.1672G> T (p.Glu558Ter)	SNV	Pathogenic	rs63751081	GRCh37	Chr 3, 37083763: 37083763
572	MLH1	NM_ 000249.3(MLH1): c.1683C> G (p.Tyr561Ter)	SNV	Pathogenic	rs63751393	GRCh37	Chr 3, 37083774: 37083774
573	MLH1	NM_ 000249.3(MLH1): c.1684C> T (p.Gln562Ter)	SNV	Pathogenic	rs63751460	GRCh37	Chr 3, 37083775: 37083775
574	MLH1	NM_ 000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)	duplication	Pathogenic	rs63750464	GRCh37	Chr 3, 37083780: 37083780
575	MLH1	NM_ 000249.3(MLH1): c.1690_ 1693delCTCA (p.Leu564Phefs)	deletion	Pathogenic	rs267607849	GRCh37	Chr 3, 37083781: 37083784
576	MLH1	NM_ 000249.3(MLH1): c.1717_ 1718delGT (p.Val573Serfs)	deletion	Pathogenic	rs63751709	GRCh37	Chr 3, 37083808: 37083809
577	MLH1	NM_ 000249.3(MLH1): c.1725delG (p.Arg575Serfs)	deletion	Pathogenic	rs63751685	GRCh37	Chr 3, 37083816: 37083816
578	MLH1	NM_ 000249.3(MLH1): c.1731+1G> A	SNV	Pathogenic	rs267607853	GRCh37	Chr 3, 37083823: 37083823
579	MLH1	NM_ 000249.3(MLH1): c.1731+270_ 1896+73del	deletion	Pathogenic		GRCh37	Chr 3, 37084092: 37089247
580	MLH1	NM_ 000249.3(MLH1): c.1731+5G> A	SNV	Pathogenic	rs267607850	GRCh37	Chr 3, 37083827: 37083827
581	MLH1	NM_ 000249.3(MLH1): c.1731+768_ 1897-222del	deletion	Pathogenic		GRCh37	Chr 3, 37084590: 37089786
582	MLH1	NM_ 000249.3(MLH1): c.1731G> A (p.Ser577=)	SNV	Pathogenic	rs63751657	GRCh37	Chr 3, 37083822: 37083822
583	MLH1	NM_ 000249.3(MLH1): c.1732-1G> A	SNV	Pathogenic	rs267607854	GRCh37	Chr 3, 37089009: 37089009
584	MLH1	NM_ 000249.3(MLH1): c.1732-2243_ 1896+404del	deletion	Pathogenic		GRCh37	Chr 3, 37086767: 37089578
585	MLH1	NM_ 000249.3(MLH1): c.1732-2A> T	SNV	Pathogenic	rs267607852	GRCh37	Chr 3, 37089008: 37089008
586	MLH1	NM_ 000249.3(MLH1): c.1732-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37089010: 37092337
587	MLH1	NM_ 000249.3(MLH1): c.1732-?_ 1896+?del	deletion	Pathogenic
588	MLH1	NM_ 000249.3(MLH1): c.1732-?_ 2103+?del	deletion	Pathogenic
589	MLH1	NM_ 000249.3(MLH1): c.1745T> C (p.Leu582Pro)	SNV	Pathogenic	rs63751616	GRCh37	Chr 3, 37089023: 37089023
590	MLH1	NM_ 000249.3(MLH1): c.1745delT (p.Leu582Profs)	deletion	Pathogenic	rs587778942	GRCh37	Chr 3, 37089023: 37089023
591	MLH1	NM_ 000249.3(MLH1): c.1748_ 1749delTT (p.Phe583Terfs)	deletion	Pathogenic	rs587778943	GRCh37	Chr 3, 37089026: 37089027
592	MLH1	NM_ 000249.3(MLH1): c.1749delT (p.Phe583Leufs)	deletion	Pathogenic	rs63750309	GRCh37	Chr 3, 37089027: 37089027
593	MLH1	NM_ 000249.3(MLH1): c.1758delC (p.Met587Cysfs)	deletion	Pathogenic	rs63749863	GRCh37	Chr 3, 37089036: 37089036
594	MLH1	NM_ 000249.3(MLH1): c.1758dupC (p.Met587Hisfs)	duplication	Pathogenic	rs367543283	GRCh37	Chr 3, 37089036: 37089036
595	MLH1	NM_ 000249.3(MLH1): c.175dupA (p.Ile59Asnfs)	duplication	Pathogenic	rs587778944	GRCh37	Chr 3, 37038168: 37038168
596	MLH1	NM_ 000249.3(MLH1): c.1764delT (p.Ala589Profs)	deletion	Pathogenic	rs63751486	GRCh37	Chr 3, 37089042: 37089042
597	MLH1	NM_ 000249.3(MLH1): c.1769delT (p.Leu590Terfs)	deletion	Pathogenic	rs63749979	GRCh37	Chr 3, 37089047: 37089047
598	MLH1	NM_ 000249.3(MLH1): c.1772_ 1775delATAG (p.Asp591Valfs)	deletion	Pathogenic	rs63749868	GRCh37	Chr 3, 37089050: 37089053
599	MLH1	NM_ 000249.3(MLH1): c.1778_ 1779delCA (p.Pro593Argfs)	deletion	Pathogenic	rs63750375	GRCh37	Chr 3, 37089056: 37089057
600	MLH1	NM_ 000249.3(MLH1): c.1783_ 1784delAG (p.Ser595Trpfs)	deletion	Pathogenic	rs63750035	GRCh37	Chr 3, 37089061: 37089062
601	MLH1	NM_ 000249.3(MLH1): c.1790G> A (p.Trp597Ter)	SNV	Pathogenic	rs63750604	GRCh37	Chr 3, 37089068: 37089068
602	MLH1	NM_ 000249.3(MLH1): c.1800_ 1818del19 (p.Glu600Aspfs)	deletion	Pathogenic	rs587778946	GRCh37	Chr 3, 37089078: 37089096
603	MLH1	NM_ 000249.3(MLH1): c.1810A> T (p.Lys604Ter)	SNV	Pathogenic	rs63750386	GRCh37	Chr 3, 37089088: 37089088
604	MLH1	NM_ 000249.3(MLH1): c.1812dupA (p.Glu605Argfs)	duplication	Pathogenic	rs63751240	GRCh37	Chr 3, 37089090: 37089090
605	MLH1	NM_ 000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)	duplication	Pathogenic	rs587778947	GRCh37	Chr 3, 37089099: 37089099
606	MLH1	NM_ 000249.3(MLH1): c.1829_ 1832dupACAT (p.Val612Hisfs)	duplication	Pathogenic	rs587778948	GRCh37	Chr 3, 37089107: 37089110
607	MLH1	NM_ 000249.3(MLH1): c.1831_ 1832delAT (p.Ile611Cysfs)	deletion	Pathogenic	rs63750150	GRCh37	Chr 3, 37089109: 37089110
608	MLH1	NM_ 000249.3(MLH1): c.184C> T (p.Gln62Ter)	SNV	Pathogenic	rs63751428	GRCh37	Chr 3, 37038177: 37038177
609	MLH1	NM_ 000249.3(MLH1): c.1852A> T (p.Lys618Ter)	SNV	Pathogenic	rs35001569	GRCh37	Chr 3, 37089130: 37089130
610	MLH1	NM_ 000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)	indel	Pathogenic	rs587778949	GRCh37	Chr 3, 37089131: 37089131
611	MLH1	NM_ 000249.3(MLH1): c.1855delG (p.Ala619Leufs)	deletion	Pathogenic	rs63749986	GRCh37	Chr 3, 37089133: 37089133
612	MLH1	NM_ 000249.3(MLH1): c.1866delT (p.Ala623Glnfs)	deletion	Pathogenic	rs587778950	GRCh37	Chr 3, 37089144: 37089144
613	MLH1	NM_ 000249.3(MLH1): c.1875T> G (p.Tyr625Ter)	SNV	Pathogenic	rs63751415	GRCh37	Chr 3, 37089153: 37089153
614	MLH1	NM_ 000249.3(MLH1): c.1877_ 1883delTCTCTTT (p.Phe626Trpfs)	deletion	Pathogenic	rs63751594	GRCh37	Chr 3, 37089155: 37089161
615	MLH1	NM_ 000249.3(MLH1): c.1877delT (p.Phe626Serfs)	deletion	Pathogenic	rs63750152	GRCh37	Chr 3, 37089155: 37089155
616	MLH1	NM_ 000249.3(MLH1): c.1880_ 1883delCTTT (p.Ser627Trpfs)	deletion	Pathogenic	rs587778953	GRCh37	Chr 3, 37089158: 37089161
617	MLH1	NM_ 000249.3(MLH1): c.1884_ 1888delGGAAA (p.Leu628Phefs)	deletion	Pathogenic	rs63751639	GRCh37	Chr 3, 37089162: 37089166
618	MLH1	NM_ 000249.3(MLH1): c.1893delT (p.Asp631Glufs)	deletion	Pathogenic	rs587778954	GRCh37	Chr 3, 37089171: 37089171
619	MLH1	NM_ 000249.3(MLH1): c.1896G> A (p.Glu632=)	SNV	Pathogenic	rs63751632	GRCh37	Chr 3, 37089174: 37089174
620	MLH1	NM_ 000249.3(MLH1): c.1897-2A> G	SNV	Likely pathogenic	rs267607871	GRCh37	Chr 3, 37090006: 37090006
621	MLH1	NM_ 000249.3(MLH1): c.1897-?_ 1989+?del	deletion	Pathogenic
622	MLH1	NM_ 000249.3(MLH1): c.189C> A (p.Asp63Glu)	SNV	Pathogenic	rs587778955	GRCh37	Chr 3, 37038182: 37038182
623	MLH1	NM_ 000249.3(MLH1): c.18_ 34del17 (p.Val7Argfs)	deletion	Pathogenic	rs63751892	GRCh37	Chr 3, 37035056: 37035072
624	MLH1	NM_ 000249.3(MLH1): c.1902delG (p.Asn635Thrfs)	deletion	Pathogenic	rs587778956	GRCh37	Chr 3, 37090013: 37090013
625	MLH1	NM_ 000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)	duplication	Pathogenic	rs587778957	GRCh37	Chr 3, 37090015: 37090015
626	MLH1	NM_ 000249.3(MLH1): c.190_ 191delAA (p.Asn64Trpfs)	deletion	Pathogenic	rs63750469	GRCh37	Chr 3, 37038183: 37038184
627	MLH1	NM_ 000249.3(MLH1): c.1913_ 1926dupGATTACCCCTTCTG (p.Ile643Aspfs)	duplication	Pathogenic	rs587778958	GRCh37	Chr 3, 37090024: 37090037
628	MLH1	NM_ 000249.3(MLH1): c.1914_ 1942dup29 (p.Pro648Hisfs)	duplication	Pathogenic	rs587778959	GRCh37	Chr 3, 37090025: 37090053
629	MLH1	NM_ 000249.3(MLH1): c.1916dupT (p.Leu639Phefs)	duplication	Pathogenic	rs587778960	GRCh37	Chr 3, 37090027: 37090027
630	MLH1	NM_ 000249.3(MLH1): c.191dupA (p.Asn64Lysfs)	duplication	Pathogenic	rs63751255	GRCh37	Chr 3, 37038184: 37038184
631	MLH1	NM_ 000249.3(MLH1): c.1920_ 1921insT (p.Leu641Serfs)	insertion	Pathogenic	rs587778961	GRCh37	Chr 3, 37090031: 37090032
632	MLH1	NM_ 000249.3(MLH1): c.1930delG (p.Asp644Thrfs)	deletion	Pathogenic	rs587778962	GRCh37	Chr 3, 37090041: 37090041
633	MLH1	NM_ 000249.3(MLH1): c.1943C> T (p.Pro648Leu)	SNV	Pathogenic	rs63750610	GRCh37	Chr 3, 37090054: 37090054
634	MLH1	NM_ 000249.3(MLH1): c.1946delC (p.Pro649Leufs)	deletion	Pathogenic	rs281864938	GRCh37	Chr 3, 37090057: 37090057
635	MLH1	NM_ 000249.3(MLH1): c.1953_ 1956delGGGA (p.Glu651Aspfs)	deletion	Pathogenic	rs63751301	GRCh37	Chr 3, 37090064: 37090067
636	MLH1	NM_ 000249.3(MLH1): c.195delC (p.Thr66Profs)	deletion	Pathogenic	rs267607715	GRCh37	Chr 3, 37038188: 37038188
637	MLH1	NM_ 000249.3(MLH1): c.1961C> T (p.Pro654Leu)	SNV	Pathogenic	rs63750726	GRCh37	Chr 3, 37090072: 37090072
638	MLH1	NM_ 000249.3(MLH1): c.1971delT (p.Leu658Phefs)	deletion	Pathogenic	rs63750115	GRCh37	Chr 3, 37090082: 37090082
639	MLH1	NM_ 000249.3(MLH1): c.1975C> T (p.Arg659Ter)	SNV	Pathogenic	rs63751310	GRCh37	Chr 3, 37090086: 37090086
640	MLH1	NM_ 000249.3(MLH1): c.1975_ 1976delCG (p.Arg659Thrfs)	deletion	Pathogenic	rs63750131	GRCh37	Chr 3, 37090086: 37090087
641	MLH1	NM_ 000249.3(MLH1): c.1976G> C (p.Arg659Pro)	SNV	Pathogenic	rs63749900	GRCh37	Chr 3, 37090087: 37090087
642	MLH1	NM_ 000249.3(MLH1): c.1976G> T (p.Arg659Leu)	SNV	Pathogenic	rs63749900	GRCh37	Chr 3, 37090087: 37090087
643	MLH1	NM_ 000249.3(MLH1): c.1976_ 1977delGA (p.Arg659Profs)	deletion	Pathogenic	rs63751200	GRCh37	Chr 3, 37090087: 37090088
644	MLH1	NM_ 000249.3(MLH1): c.1986_ 1989+1delinsC	indel	Pathogenic	rs267607873	GRCh37	Chr 3, 37090097: 37090101
645	MLH1	NM_ 000249.3(MLH1): c.1988delA (p.Glu663Glyfs)	deletion	Pathogenic	rs267607877	GRCh37	Chr 3, 37090099: 37090099
646	MLH1	NM_ 000249.3(MLH1): c.1989+1G> A	SNV	Pathogenic	rs267607879	GRCh37	Chr 3, 37090101: 37090101
647	MLH1	NM_ 000249.3(MLH1): c.1989+1G> T	SNV	Pathogenic	rs267607879	GRCh37	Chr 3, 37090101: 37090101
648	MLH1	NM_ 000249.3(MLH1): c.1989G> T (p.Glu663Asp)	SNV	Pathogenic	rs63751662	GRCh37	Chr 3, 37090100: 37090100
649	MLH1	NM_ 000249.3(MLH1): c.198dupC (p.Gly67Argfs)	duplication	Pathogenic	rs587778966	GRCh37	Chr 3, 37038191: 37038191
650	MLH1	NM_ 000249.3(MLH1): c.1990-1G> A	SNV	Pathogenic	rs267607884	GRCh37	Chr 3, 37090394: 37090394
651	MLH1	NM_ 000249.3(MLH1): c.1990-2A> G	SNV	Pathogenic	rs267607883	GRCh37	Chr 3, 37090393: 37090393
652	MLH1	NM_ 000249.3(MLH1): c.1990-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37090395: 37092337
653	MLH1	NM_ 000249.3(MLH1): c.1998G> A (p.Trp666Ter)	SNV	Pathogenic	rs63750639	GRCh37	Chr 3, 37090403: 37090403
654	MLH1	NM_ 000249.3(MLH1): c.199G> A (p.Gly67Arg)	SNV	Pathogenic	rs63750206	GRCh37	Chr 3, 37038192: 37038192
655	MLH1	NM_ 000249.3(MLH1): c.19_ 35del17 (p.Val7Argfs)	deletion	Pathogenic	rs267607702	GRCh37	Chr 3, 37035057: 37035073
656	MLH1	NM_ 000249.3(MLH1): c.2000dupA (p.Asp667Glufs)	duplication	Pathogenic	rs63750282	GRCh37	Chr 3, 37090405: 37090405
657	MLH1	NM_ 000249.3(MLH1): c.2006_ 2010delAAAAG (p.Glu669Glyfs)	deletion	Pathogenic	rs63750061	GRCh37	Chr 3, 37090411: 37090415
658	MLH1	NM_ 000249.3(MLH1): c.2009delA (p.Lys670Argfs)	deletion	Pathogenic	rs63750740	GRCh37	Chr 3, 37090414: 37090414
659	MLH1	NM_ 000249.3(MLH1): c.2011G> T (p.Glu671Ter)	SNV	Pathogenic	rs63750663	GRCh37	Chr 3, 37090416: 37090416
660	MLH1	NM_ 000249.3(MLH1): c.201delG (p.Ile68Serfs)	deletion	Pathogenic	rs587778968	GRCh37	Chr 3, 37038194: 37038194
661	MLH1	NM_ 000249.3(MLH1): c.2035G> T (p.Glu679Ter)	SNV	Pathogenic	rs587778971	GRCh37	Chr 3, 37090440: 37090440
662	MLH1	NM_ 000249.3(MLH1): c.2038T> C (p.Cys680Arg)	SNV	Likely pathogenic	rs63750809	GRCh37	Chr 3, 37090443: 37090443
663	MLH1	NM_ 000249.3(MLH1): c.2040C> A (p.Cys680Ter)	SNV	Pathogenic	rs63749867	GRCh37	Chr 3, 37090445: 37090445
664	MLH1	NM_ 000249.3(MLH1): c.2059C> T (p.Arg687Trp)	SNV	Pathogenic	rs63751275	GRCh37	Chr 3, 37090464: 37090464
665	MLH1	NM_ 000249.3(MLH1): c.205delA (p.Arg69Glyfs)	deletion	Pathogenic	rs63751704	GRCh37	Chr 3, 37038198: 37038198
666	MLH1	NM_ 000249.3(MLH1): c.2067_ 2073delGTACATA (p.Gln689Hisfs)	deletion	Pathogenic	rs63750420	GRCh37	Chr 3, 37090472: 37090478
667	MLH1	NM_ 000249.3(MLH1): c.207+1245_ 884+523dup	duplication	Pathogenic		GRCh37	Chr 3, 37039445: 37059613
668	MLH1	NM_ 000249.3(MLH1): c.207+1560_ 546-871del	deletion	Pathogenic		GRCh37	Chr 3, 37039760: 37052440
669	MLH1	NM_ 000249.3(MLH1): c.207+1G> A	SNV	Likely pathogenic	rs267607718	GRCh37	Chr 3, 37038201: 37038201
670	MLH1	NM_ 000249.3(MLH1): c.2076_ 2077delTG (p.Glu693Glyfs)	deletion	Pathogenic	rs63750769	GRCh37	Chr 3, 37090481: 37090482
671	MLH1	NM_ 000249.3(MLH1): c.2078_ 2172del (p.Glu693Alafs*8)	deletion	Pathogenic
672	MLH1	NM_ 000249.3(MLH1): c.208-1714_ 306+641delinsACATAGTA	indel	Pathogenic		GRCh37	Chr 3, 37040732: 37043185
673	MLH1	NM_ 000249.3(MLH1): c.208-1G> A	SNV	Pathogenic	rs267607717	GRCh37	Chr 3, 37042445: 37042445
674	MLH1	NM_ 000249.3(MLH1): c.208-1_ 208del	deletion	Pathogenic	rs587778973	GRCh37	Chr 3, 37042445: 37042446
675	MLH1	NM_ 000249.3(MLH1): c.208-2A> G	SNV	Pathogenic	rs267607716	GRCh37	Chr 3, 37042444: 37042444
676	MLH1	NM_ 000249.3(MLH1): c.208-?_ 306+?del	deletion	Pathogenic
677	MLH1	NM_ 000249.3(MLH1): c.208-?_ 453+?del	deletion	Pathogenic
678	MLH1	NM_ 000249.3(MLH1): c.208-?_ 545+?del	deletion	Pathogenic
679	MLH1	NM_ 000249.3(MLH1): c.208-?_ 790+?del	deletion	Pathogenic
680	MLH1	NM_ 000249.3(MLH1): c.2084C> A (p.Ser695Ter)	SNV	Pathogenic	rs63749995	GRCh37	Chr 3, 37090489: 37090489
681	MLH1	NM_ 000249.3(MLH1): c.2092_ 2093delTC (p.Ser698Argfs)	deletion	Pathogenic	rs63750859	GRCh37	Chr 3, 37090497: 37090498
682	MLH1	NM_ 000249.3(MLH1): c.2093C> G (p.Ser698Ter)	SNV	Pathogenic	rs587778975	GRCh37	Chr 3, 37090498: 37090498
683	MLH1	NM_ 000249.3(MLH1): c.2099_ 2102delAGCA (p.Gln700Argfs)	deletion	Pathogenic	rs63751652	GRCh37	Chr 3, 37090504: 37090507
684	MLH1	NM_ 000249.3(MLH1): c.2101C> T (p.Gln701Ter)	SNV	Pathogenic	rs63750114	GRCh37	Chr 3, 37090506: 37090506
685	MLH1	NM_ 000249.3(MLH1): c.2103+1G> A	SNV	Pathogenic	rs267607888	GRCh37	Chr 3, 37090509: 37090509
686	MLH1	NM_ 000249.3(MLH1): c.2103G> C (p.Gln701His)	SNV	Pathogenic	rs63750603	GRCh37	Chr 3, 37090508: 37090508
687	MLH1	NM_ 000249.3(MLH1): c.2104-2A> T	SNV	Pathogenic	rs267607889	GRCh37	Chr 3, 37091975: 37091975
688	MLH1	NM_ 000249.3(MLH1): c.2104-?_ *(193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37091977: 37092337
689	MLH1	NM_ 000249.3(MLH1): c.2104_ 2105delAG (p.Ser702Terfs)	deletion	Pathogenic	rs63751651	GRCh37	Chr 3, 37091977: 37091978
690	MLH1	NM_ 000249.3(MLH1): c.2105_ 2114delGTGAAGTGCC (p.Ser702Metfs)	deletion	Pathogenic	rs587778979	GRCh37	Chr 3, 37091978: 37091987
691	MLH1	NM_ 000249.3(MLH1): c.210_ 213delAGAA (p.Glu71Ilefs)	deletion	Pathogenic	rs267607723	GRCh37	Chr 3, 37042448: 37042451
692	MLH1	NM_ 000249.3(MLH1): c.2111_ 2117delTGCCTGG (p.Val704Alafs)	deletion	Pathogenic	rs587778980	GRCh37	Chr 3, 37091984: 37091990
693	MLH1	NM_ 000249.3(MLH1): c.211G> T (p.Glu71Ter)	SNV	Pathogenic	rs63749829	GRCh37	Chr 3, 37042449: 37042449
694	MLH1	NM_ 000249.3(MLH1): c.2135G> A (p.Trp712Ter)	SNV	Pathogenic	rs63750561	GRCh37	Chr 3, 37092008: 37092008
695	MLH1	NM_ 000249.3(MLH1): c.2136G> A (p.Trp712Ter)	SNV	Pathogenic	rs63750499	GRCh37	Chr 3, 37092009: 37092009
696	MLH1	NM_ 000249.3(MLH1): c.213_ 215delAGA (p.Glu71del)	deletion	Pathogenic	rs63751642	GRCh37	Chr 3, 37042451: 37042453
697	MLH1	NM_ 000249.3(MLH1): c.2141G> A (p.Trp714Ter)	SNV	Pathogenic	rs63751022	GRCh37	Chr 3, 37092014: 37092014
698	MLH1	NM_ 000249.3(MLH1): c.2147_ 2148delTG (p.Val716Glyfs)	deletion	Pathogenic	rs587778981	GRCh37	Chr 3, 37092020: 37092021
699	MLH1	NM_ 000249.3(MLH1): c.2149_ 2195dup47 (p.His733Asnfs)	duplication	Pathogenic	rs587778982	GRCh37	Chr 3, 37092022: 37092068
700	MLH1	NM_ 000249.3(MLH1): c.2154_ 2155delCA (p.Ile719Cysfs)	deletion	Pathogenic	rs63750971	GRCh37	Chr 3, 37092027: 37092028
701	MLH1	NM_ 000249.3(MLH1): c.2154_ 2155dupCA (p.Ile719Thrfs)	duplication	Pathogenic	rs281864940	GRCh37	Chr 3, 37092027: 37092028
702	MLH1	NM_ 000249.3(MLH1): c.2157dupT (p.Val720Cysfs)	duplication	Pathogenic	rs587778984	GRCh37	Chr 3, 37092030: 37092030
703	MLH1	NM_ 000249.3(MLH1): c.2163T> A (p.Tyr721Ter)	SNV	Pathogenic	rs63750484	GRCh37	Chr 3, 37092036: 37092036
704	MLH1	NM_ 000249.3(MLH1): c.2179_ 2182delCACA (p.His727Phefs)	deletion	Pathogenic	rs267607898	GRCh37	Chr 3, 37092052: 37092055
705	MLH1	NM_ 000249.3(MLH1): c.2181_ 2182delCA (p.Ile728Serfs)	deletion	Pathogenic	rs587778987	GRCh37	Chr 3, 37092054: 37092055
706	MLH1	NM_ 000249.3(MLH1): c.2194A> T (p.Lys732Ter)	SNV	Pathogenic	rs267607906	GRCh37	Chr 3, 37092067: 37092067
707	MLH1	NM_ 000249.3(MLH1): c.2195_ 2198dupAACA (p.His733Glnfs)	duplication	Pathogenic	rs267607903	GRCh37	Chr 3, 37092068: 37092071
708	MLH1	NM_ 000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)	duplication	Pathogenic	rs587778989	GRCh37	Chr 3, 37092091: 37092091
709	MLH1	NM_ 000249.3(MLH1): c.2221_ 2224delCTGCins30 (p.?)	indel	Pathogenic	rs587778990	GRCh37	Chr 3, 37092094: 37092097
710	MLH1	NM_ 000249.3(MLH1): c.2223_ 2233delGCAGCTTGCTA (p.Gln742Profs)	deletion	Pathogenic	rs267607897	GRCh37	Chr 3, 37092096: 37092106
711	MLH1	NM_ 000249.3(MLH1): c.2224C> T (p.Gln742Ter)	SNV	Pathogenic	rs587778992	GRCh37	Chr 3, 37092097: 37092097
712	MLH1	NM_ 000249.3(MLH1): c.2224delC (p.Gln742Serfs)	deletion	Pathogenic	rs267607896	GRCh37	Chr 3, 37092097: 37092097
713	MLH1	NM_ 000249.3(MLH1): c.2246T> C (p.Leu749Pro)	SNV	Pathogenic	rs267607894	GRCh37	Chr 3, 37092119: 37092119
714	MLH1	NM_ 000249.3(MLH1): c.2266_ 2269dupTGTT (p.Ter757Leufs)	duplication	Pathogenic	rs267607892	GRCh37	Chr 3, 37092139: 37092142
715	MLH1	NM_ 000249.3(MLH1): c.2269dupT (p.Ter757Leufs)	duplication	Pathogenic	rs267607892	GRCh37	Chr 3, 37092142: 37092142
716	MLH1	NM_ 000249.3(MLH1): c.229T> C (p.Cys77Arg)	SNV	Pathogenic	rs63749859	GRCh37	Chr 3, 37042467: 37042467
717	MLH1	NM_ 000249.3(MLH1): c.22dupA (p.Ile8Asnfs)	duplication	Pathogenic	rs587778996	GRCh37	Chr 3, 37035060: 37035060
718	MLH1	NM_ 000249.3(MLH1): c.230G> A (p.Cys77Tyr)	SNV	Pathogenic	rs63750437	GRCh37	Chr 3, 37042468: 37042468
719	MLH1	NM_ 000249.3(MLH1): c.231_ 232delTG (p.Cys77Terfs)	deletion	Pathogenic	rs63750052	GRCh37	Chr 3, 37042469: 37042470
720	MLH1	NM_ 000249.3(MLH1): c.232delG (p.Glu78Lysfs)	deletion	Pathogenic	rs587778997	GRCh37	Chr 3, 37042470: 37042470
721	MLH1	NM_ 000249.3(MLH1): c.238T> G (p.Phe80Val)	SNV	Pathogenic	rs63749990	GRCh37	Chr 3, 37042476: 37042476
722	MLH1	NM_ 000249.3(MLH1): c.244dupA (p.Thr82Asnfs)	duplication	Pathogenic	rs267607729	GRCh37	Chr 3, 37042482: 37042482
723	MLH1	NM_ 000249.3(MLH1): c.245C> T (p.Thr82Ile)	SNV	Pathogenic	rs63750005	GRCh37	Chr 3, 37042483: 37042483
724	MLH1	NM_ 000249.3(MLH1): c.256C> T (p.Gln86Ter)	SNV	Pathogenic	rs63751421	GRCh37	Chr 3, 37042494: 37042494
725	MLH1	NM_ 000249.3(MLH1): c.261delC (p.Phe88Leufs)	deletion	Pathogenic	rs267607728	GRCh37	Chr 3, 37042499: 37042499
726	MLH1	NM_ 000249.3(MLH1): c.265G> T (p.Glu89Ter)	SNV	Pathogenic	rs11541859	GRCh37	Chr 3, 37042503: 37042503
727	MLH1	NM_ 000249.3(MLH1): c.2T> A (p.Met1Lys)	SNV	Pathogenic	rs111052004	GRCh37	Chr 3, 37035040: 37035040
728	MLH1	NM_ 000249.3(MLH1): c.306+2dupT	duplication	Pathogenic	rs267607738	GRCh37	Chr 3, 37042546: 37042546
729	MLH1	NM_ 000249.3(MLH1): c.306+5G> A	SNV	Pathogenic	rs267607735	GRCh37	Chr 3, 37042549: 37042549
730	MLH1	NM_ 000249.3(MLH1): c.306G> C (p.Glu102Asp)	SNV	Pathogenic	rs63751665	GRCh37	Chr 3, 37042544: 37042544
731	MLH1	NM_ 000249.3(MLH1): c.307-1420_ 380+624del	deletion	Pathogenic		GRCh37	Chr 3, 37044472: 37046589
732	MLH1	NM_ 000249.3(MLH1): c.307-1G> C	SNV	Likely pathogenic	rs267607736	GRCh37	Chr 3, 37045891: 37045891
733	MLH1	NM_ 000249.3(MLH1): c.307-245_ 454-365del	deletion	Pathogenic		GRCh37	Chr 3, 37045647: 37049940
734	MLH1	NM_ 000249.3(MLH1): c.307-797_ 677+1061del	deletion	Pathogenic		GRCh37	Chr 3, 37045095: 37054651
735	MLH1	NM_ 000249.3(MLH1): c.307-820_ 380+896del	deletion	Pathogenic		GRCh37	Chr 3, 37045072: 37046861
736	MLH1	NM_ 000249.3(MLH1): c.307-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37045892: 37092337
737	MLH1	NM_ 000249.3(MLH1): c.307-?_ 545+?del	deletion	Pathogenic
738	MLH1	NM_ 000249.3(MLH1): c.31delC (p.Leu11Trpfs)	deletion	Pathogenic	rs63749816	GRCh37	Chr 3, 37035069: 37035069
739	MLH1	NM_ 000249.3(MLH1): c.320T> G (p.Ile107Arg)	SNV	Pathogenic	rs63750507	GRCh37	Chr 3, 37045905: 37045905
740	MLH1	NM_ 000249.3(MLH1): c.341delC (p.Thr114Ilefs)	deletion	Pathogenic	rs63750645	GRCh37	Chr 3, 37045926: 37045926
741	MLH1	NM_ 000249.3(MLH1): c.346delA (p.Thr116Glnfs)	deletion	Pathogenic	rs63750906	GRCh37	Chr 3, 37045931: 37045931
742	MLH1	NM_ 000249.3(MLH1): c.346dupA (p.Thr116Asnfs)	duplication	Pathogenic	rs267607739	GRCh37	Chr 3, 37045931: 37045931
743	MLH1	NM_ 000249.3(MLH1): c.354_ 355dupAA (p.Thr119Lysfs)	duplication	Pathogenic	rs63750658	GRCh37	Chr 3, 37045939: 37045940
744	MLH1	NM_ 000249.3(MLH1): c.367A> T (p.Lys123Ter)	SNV	Pathogenic	rs63750542	GRCh37	Chr 3, 37045952: 37045952
745	MLH1	NM_ 000249.3(MLH1): c.372_ 373delTG (p.Ala125Ilefs)	deletion	Pathogenic	rs587779006	GRCh37	Chr 3, 37045957: 37045958
746	MLH1	NM_ 000249.3(MLH1): c.378C> G (p.Tyr126Ter)	SNV	Pathogenic	rs63751606	GRCh37	Chr 3, 37045963: 37045963
747	MLH1	NM_ 000249.3(MLH1): c.378delC (p.Tyr126Terfs)	deletion	Pathogenic	rs63751607	GRCh37	Chr 3, 37045963: 37045963
748	MLH1	NM_ 000249.3(MLH1): c.37G> T (p.Glu13Ter)	SNV	Pathogenic	rs587779008	GRCh37	Chr 3, 37035075: 37035075
749	MLH1	NM_ 000249.3(MLH1): c.37delG (p.Glu13Argfs)	deletion	Pathogenic	rs63750081	GRCh37	Chr 3, 37035075: 37035075
750	MLH1	NM_ 000249.3(MLH1): c.380+1G> A	SNV	Likely pathogenic	rs267607745	GRCh37	Chr 3, 37045966: 37045966
751	MLH1	NM_ 000249.3(MLH1): c.380+2T> A	SNV	Pathogenic	rs267607742	GRCh37	Chr 3, 37045967: 37045967
752	MLH1	NM_ 000249.3(MLH1): c.381-415_ 453+733del	deletion	Pathogenic		GRCh37	Chr 3, 37048067: 37049287
753	MLH1	NM_ 000249.3(MLH1): c.381-?_ 545+?del	deletion	Pathogenic
754	MLH1	NM_ 000249.3(MLH1): c.382G> C (p.Ala128Pro)	SNV	Pathogenic	rs63750866	GRCh37	Chr 3, 37048483: 37048483
755	MLH1	NM_ 000249.3(MLH1): c.382_ 402del21insT (p.Ala128Serfs)	indel	Pathogenic	rs267607746	GRCh37	Chr 3, 37048483: 37048503
756	MLH1	NM_ 000249.3(MLH1): c.382delG (p.Ala128Glnfs)	deletion	Pathogenic	rs63750865	GRCh37	Chr 3, 37048483: 37048483
757	MLH1	NM_ 000249.3(MLH1): c.385_ 386delAGinsGTT (p.Ser129Valfs)	indel	Pathogenic	rs63751710	GRCh37	Chr 3, 37048486: 37048487
758	MLH1	NM_ 000249.3(MLH1): c.388delT (p.Tyr130Thrfs)	deletion	Pathogenic	rs587779009	GRCh37	Chr 3, 37048489: 37048489
759	MLH1	NM_ 000249.3(MLH1): c.389delA (p.Tyr130Serfs)	deletion	Pathogenic	rs587779012	GRCh37	Chr 3, 37048490: 37048490
760	MLH1	NM_ 000249.3(MLH1): c.38_ 39insCCCA (p.Glu13Aspfs)	insertion	Pathogenic	rs63750057	GRCh37	Chr 3, 37035076: 37035077
761	MLH1	NM_ 000249.3(MLH1): c.392C> A (p.Ser131Ter)	SNV	Pathogenic	rs63749818	GRCh37	Chr 3, 37048493: 37048493
762	MLH1	NM_ 000249.3(MLH1): c.397G> T (p.Gly133Ter)	SNV	Pathogenic	rs63751124	GRCh37	Chr 3, 37048498: 37048498
763	MLH1	NM_ 000249.3(MLH1): c.39_ 40dupGA (p.Thr14Argfs)	duplication	Pathogenic	rs587779013	GRCh37	Chr 3, 37035077: 37035078
764	MLH1	NM_ 000249.3(MLH1): c.404_ 407delTGAA (p.Leu135Glnfs)	deletion	Pathogenic	rs587779014	GRCh37	Chr 3, 37048505: 37048508
765	MLH1	NM_ 000249.3(MLH1): c.420delA (p.Lys140Asnfs)	deletion	Pathogenic	rs587779015	GRCh37	Chr 3, 37048521: 37048521
766	MLH1	NM_ 000249.3(MLH1): c.428dupC (p.Gly144Trpfs)	duplication	Pathogenic	rs63751045	GRCh37	Chr 3, 37048529: 37048529
767	MLH1	NM_ 000249.3(MLH1): c.436C> T (p.Gln146Ter)	SNV	Pathogenic	rs63749820	GRCh37	Chr 3, 37048537: 37048537
768	MLH1	NM_ 000249.3(MLH1): c.445C> T (p.Gln149Ter)	SNV	Pathogenic	rs63751302	GRCh37	Chr 3, 37048546: 37048546
769	MLH1	NM_ 000249.3(MLH1): c.44dupT (p.Val16Glyfs)	duplication	Pathogenic	rs63751131	GRCh37	Chr 3, 37035082: 37035082
770	MLH1	NM_ 000249.3(MLH1): c.453+2T> C	SNV	Pathogenic	rs267607751	GRCh37	Chr 3, 37048556: 37048556
771	MLH1	NM_ 000249.3(MLH1): c.454-432_ 546-1030del	deletion	Pathogenic		GRCh37	Chr 3, 37049873: 37052281
772	MLH1	NM_ 000249.3(MLH1): c.454-466_ 546-1062del	deletion	Pathogenic		GRCh37	Chr 3, 37049839: 37052249
773	MLH1	NM_ 000249.3(MLH1): c.454-505_ 546-1102del	deletion	Pathogenic		GRCh37	Chr 3, 37049800: 37052209
774	MLH1	NM_ 000249.3(MLH1): c.454-665_ 545+49del	deletion	Pathogenic		GRCh37	Chr 3, 37049640: 37050445
775	MLH1	NM_ 000249.3(MLH1): c.454-?_ 545+?del	deletion	Pathogenic
776	MLH1	NM_ 000249.3(MLH1): c.464T> G (p.Leu155Arg)	SNV	Pathogenic	rs63750891	GRCh37	Chr 3, 37050315: 37050315
777	MLH1	NM_ 000249.3(MLH1): c.468_ 469delTT (p.Phe156Leufs)	deletion	Pathogenic	rs267607758	GRCh37	Chr 3, 37050319: 37050320
778	MLH1	NM_ 000249.3(MLH1): c.488delG (p.Arg163Lysfs)	deletion	Pathogenic	rs267607754	GRCh37	Chr 3, 37050339: 37050339
779	MLH1	NM_ 000249.3(MLH1): c.497T> A (p.Leu166Ter)	SNV	Pathogenic	rs267607755	GRCh37	Chr 3, 37050348: 37050348
780	MLH1	NM_ 000249.3(MLH1): c.497delT (p.Leu166Terfs)	deletion	Pathogenic	rs587779018	GRCh37	Chr 3, 37050348: 37050348
781	MLH1	NM_ 000249.3(MLH1): c.502_ 503delAA (p.Asn168Serfs)	deletion	Pathogenic	rs267607756	GRCh37	Chr 3, 37050353: 37050354
782	MLH1	NM_ 000249.3(MLH1): c.503dupA (p.Asn168Lysfs)	duplication	Pathogenic	rs63749959	GRCh37	Chr 3, 37050354: 37050354
783	MLH1	NM_ 000249.3(MLH1): c.513delA (p.Glu172Asnfs)	deletion	Pathogenic	rs63749944	GRCh37	Chr 3, 37050364: 37050364
784	MLH1	NM_ 000249.3(MLH1): c.524_ 525insGA (p.Ile176Lysfs)	insertion	Pathogenic	rs587779019	GRCh37	Chr 3, 37050375: 37050376
785	MLH1	NM_ 000249.3(MLH1): c.52delC (p.Arg18Alafs)	deletion	Pathogenic	rs63749804	GRCh37	Chr 3, 37035090: 37035090
786	MLH1	NM_ 000249.3(MLH1): c.531_ 532delGGinsAT (p.Glu178Ter)	indel	Pathogenic	rs63750903	GRCh37	Chr 3, 37050382: 37050383
787	MLH1	NM_ 000249.3(MLH1): c.531_ 532delGGinsCT (p.Leu177_ Glu178delinsPheTer)	indel	Pathogenic	rs63750903	GRCh37	Chr 3, 37050382: 37050383
788	MLH1	NM_ 000249.3(MLH1): c.544A> G (p.Arg182Gly)	SNV	Pathogenic	rs63750211	GRCh37	Chr 3, 37050395: 37050395
789	MLH1	NM_ 000249.3(MLH1): c.545+1G> A	SNV	Likely pathogenic	rs267607765	GRCh37	Chr 3, 37050397: 37050397
790	MLH1	NM_ 000249.3(MLH1): c.545+3A> G	SNV	Pathogenic	rs267607760	GRCh37	Chr 3, 37050399: 37050399
791	MLH1	NM_ 000249.3(MLH1): c.545G> A (p.Arg182Lys)	SNV	Pathogenic	rs587779021	GRCh37	Chr 3, 37050396: 37050396
792	MLH1	NM_ 000249.3(MLH1): c.546-1G> A	SNV	Likely pathogenic	rs587779022	GRCh37	Chr 3, 37053310: 37053310
793	MLH1	NM_ 000249.3(MLH1): c.546-2A> C	SNV	Pathogenic	rs267607759	GRCh37	Chr 3, 37053309: 37053309
794	MLH1	NM_ 000249.3(MLH1): c.546-2A> G	SNV	Pathogenic	rs267607759	GRCh37	Chr 3, 37053309: 37053309
795	MLH1	NM_ 000249.3(MLH1): c.546-361_ 885-811del	deletion	Pathogenic		GRCh37	Chr 3, 37052950: 37060990
796	MLH1	NM_ 000249.3(MLH1): c.546-?_ 1409+?dup	duplication	Pathogenic
797	MLH1	NM_ 000249.3(MLH1): c.546-?_ 677+?del	deletion	Pathogenic
798	MLH1	NM_ 000249.3(MLH1): c.546-?_ 790+?del	deletion	Pathogenic
799	MLH1	NM_ 000249.3(MLH1): c.554T> G (p.Val185Gly)	SNV	Pathogenic	rs63750515	GRCh37	Chr 3, 37053319: 37053319
800	MLH1	NM_ 000249.3(MLH1): c.578C> G (p.Ser193Ter)	SNV	Pathogenic	rs63751480	GRCh37	Chr 3, 37053343: 37053343
801	MLH1	NM_ 000249.3(MLH1): c.586A> T (p.Lys196Ter)	SNV	Pathogenic	rs63750500	GRCh37	Chr 3, 37053351: 37053351
802	MLH1	NM_ 000249.3(MLH1): c.588+1G> T	SNV	Pathogenic	rs267607772	GRCh37	Chr 3, 37053354: 37053354
803	MLH1	NM_ 000249.3(MLH1): c.588+5G> A	SNV	Pathogenic	rs267607768	GRCh37	Chr 3, 37053358: 37053358
804	MLH1	NM_ 000249.3(MLH1): c.588delA (p.Lys196Asnfs)	deletion	Pathogenic	rs63751653	GRCh37	Chr 3, 37053353: 37053353
805	MLH1	NM_ 000249.3(MLH1): c.589-2A> G	SNV	Pathogenic	rs267607767	GRCh37	Chr 3, 37053500: 37053500
806	MLH1	NM_ 000249.3(MLH1): c.597_ 598delGA (p.Glu199Aspfs)	deletion	Pathogenic	rs63751637	GRCh37	Chr 3, 37053510: 37053511
807	MLH1	NM_ 000249.3(MLH1): c.5C> A (p.Ser2Ter)	SNV	Pathogenic	rs587779029	GRCh37	Chr 3, 37035043: 37035043
808	MLH1	NM_ 000249.3(MLH1): c.61delG (p.Ala21Argfs)	deletion	Pathogenic	rs63750581	GRCh37	Chr 3, 37035099: 37035099
809	MLH1	NM_ 000249.3(MLH1): c.62C> A (p.Ala21Glu)	SNV	Pathogenic	rs63750706	GRCh37	Chr 3, 37035100: 37035100
810	MLH1	NM_ 000249.3(MLH1): c.632_ 633insT (p.Thr212Asnfs)	insertion	Pathogenic	rs63750908	GRCh37	Chr 3, 37053545: 37053546
811	MLH1	NM_ 000249.3(MLH1): c.649delC (p.Arg217Alafs)	deletion	Pathogenic	rs63750380	GRCh37	Chr 3, 37053562: 37053562
812	MLH1	NM_ 000249.3(MLH1): c.665delA (p.Asn222Metfs)	deletion	Pathogenic	rs63751286	GRCh37	Chr 3, 37053578: 37053578
813	MLH1	NM_ 000249.3(MLH1): c.665dupA (p.Asn222Lysfs)	duplication	Pathogenic	rs63750385	GRCh37	Chr 3, 37053578: 37053578
814	MLH1	NM_ 000249.3(MLH1): c.672delT (p.Ser225Valfs)	deletion	Pathogenic	rs587779031	GRCh37	Chr 3, 37053585: 37053585
815	MLH1	NM_ 000249.3(MLH1): c.673_ 676delAGTC (p.Ser225Glufs)	deletion	Pathogenic	rs267607774	GRCh37	Chr 3, 37053586: 37053589
816	MLH1	NM_ 000249.3(MLH1): c.677+1G> T	SNV	Pathogenic	rs267607778	GRCh37	Chr 3, 37053591: 37053591
817	MLH1	NM_ 000249.3(MLH1): c.677+1delG	deletion	Pathogenic	rs267607779	GRCh37	Chr 3, 37053591: 37053591
818	MLH1	NM_ 000249.3(MLH1): c.677+3A> G	SNV	Pathogenic	rs267607780	GRCh37	Chr 3, 37053593: 37053593
819	MLH1	NM_ 000249.3(MLH1): c.677G> A (p.Arg226Gln)	SNV	Pathogenic	rs63751711	GRCh37	Chr 3, 37053590: 37053590
820	MLH1	NM_ 000249.3(MLH1): c.677G> T (p.Arg226Leu)	SNV	Likely pathogenic	rs63751711	GRCh37	Chr 3, 37053590: 37053590
821	MLH1	NM_ 000249.3(MLH1): c.677_ 677+1delinsAT	indel	Pathogenic	rs587779032	GRCh37	Chr 3, 37053590: 37053591
822	MLH1	NM_ 000249.3(MLH1): c.678-1G> C	SNV	Pathogenic	rs267607784	GRCh37	Chr 3, 37055922: 37055922
823	MLH1	NM_ 000249.3(MLH1): c.678-3_ 678-2del	deletion	Pathogenic	rs267607783	GRCh37	Chr 3, 37055920: 37055921
824	MLH1	NM_ 000249.3(MLH1): c.678-9_ 693del	deletion	Pathogenic	rs587779036	GRCh37	Chr 3, 37055914: 37055938
825	MLH1	NM_ 000249.3(MLH1): c.678-?_ 1558+?del	deletion	Pathogenic
826	MLH1	NM_ 000249.3(MLH1): c.678-?_ 884+?del	deletion	Pathogenic
827	MLH1	NM_ 000249.3(MLH1): c.67G> T (p.Glu23Ter)	SNV	Pathogenic	rs63750823	GRCh37	Chr 3, 37035105: 37035105
828	MLH1	NM_ 000249.3(MLH1): c.67delG (p.Glu23Lysfs)	deletion	Pathogenic	rs63750822	GRCh37	Chr 3, 37035105: 37035105
829	MLH1	NM_ 000249.3(MLH1): c.683dupT (p.Ile229Aspfs)	duplication	Pathogenic	rs63751659	GRCh37	Chr 3, 37055928: 37055928
830	MLH1	NM_ 000249.3(MLH1): c.693delT (p.Ile231Metfs)	deletion	Pathogenic	rs63750764	GRCh37	Chr 3, 37055938: 37055938
831	MLH1	NM_ 000249.3(MLH1): c.70delG (p.Val24Leufs)	deletion	Pathogenic	rs63751396	GRCh37	Chr 3, 37035108: 37035108
832	MLH1	NM_ 000249.3(MLH1): c.727_ 730delAATG (p.Asn243Valfs)	deletion	Pathogenic	rs267607787	GRCh37	Chr 3, 37055972: 37055975
833	MLH1	NM_ 000249.3(MLH1): c.731G> A (p.Gly244Asp)	SNV	Pathogenic	rs63750303	GRCh37	Chr 3, 37055976: 37055976
834	MLH1	NM_ 000249.3(MLH1): c.731_ 734delGTTA (p.Gly244Alafs)	deletion	Pathogenic	rs587779037	GRCh37	Chr 3, 37055976: 37055979
835	MLH1	NM_ 000249.3(MLH1): c.739T> C (p.Ser247Pro)	SNV	Pathogenic	rs63750948	GRCh37	Chr 3, 37055984: 37055984
836	MLH1	NM_ 000249.3(MLH1): c.73delA (p.Ile25Serfs)	deletion	Pathogenic	rs63749839	GRCh37	Chr 3, 37035111: 37035111
837	MLH1	NM_ 000249.3(MLH1): c.745dupG (p.Ala249Glyfs)	duplication	Pathogenic	rs63750819	GRCh37	Chr 3, 37055990: 37055990
838	MLH1	NM_ 000249.3(MLH1): c.76C> T (p.Gln26Ter)	SNV	Pathogenic	rs63749827	GRCh37	Chr 3, 37035114: 37035114
839	MLH1	NM_ 000249.3(MLH1): c.76delC (p.Gln26Serfs)	deletion	Pathogenic	rs63749828	GRCh37	Chr 3, 37035114: 37035114
840	MLH1	NM_ 000249.3(MLH1): c.779T> G (p.Leu260Arg)	SNV	Pathogenic	rs63751283	GRCh37	Chr 3, 37056024: 37056024
841	MLH1	NM_ 000249.3(MLH1): c.78delG (p.Gln26Hisfs)	deletion	Pathogenic	rs587779040	GRCh37	Chr 3, 37035116: 37035116
842	MLH1	NM_ 000249.3(MLH1): c.790+1G> A	SNV	Pathogenic	rs267607789	GRCh37	Chr 3, 37056036: 37056036
843	MLH1	NM_ 000249.3(MLH1): c.790+1delG	deletion	Pathogenic	rs267607798	GRCh37	Chr 3, 37056036: 37056036
844	MLH1	NM_ 000249.3(MLH1): c.790+2T> C	SNV	Pathogenic	rs267607790	GRCh37	Chr 3, 37056037: 37056037
845	MLH1	NM_ 000249.3(MLH1): c.790+2dupT	duplication	Pathogenic	rs267607791	GRCh37	Chr 3, 37056037: 37056037
846	MLH1	NM_ 000249.3(MLH1): c.791-1G> C	SNV	Pathogenic	rs267607795	GRCh37	Chr 3, 37058996: 37058996
847	MLH1	NM_ 000249.3(MLH1): c.791-2A> G	SNV	Likely pathogenic	rs267607794	GRCh37	Chr 3, 37058995: 37058995
848	MLH1	NM_ 000249.3(MLH1): c.791-4_ 795del	deletion	Pathogenic	rs587779041	GRCh37	Chr 3, 37058993: 37059001
849	MLH1	NM_ 000249.3(MLH1): c.791-5T> G	SNV	Pathogenic	rs267607788	GRCh37	Chr 3, 37058992: 37058992
850	MLH1	NM_ 000249.3(MLH1): c.791-?_ 1558+?del	deletion	Pathogenic
851	MLH1	NM_ 000249.3(MLH1): c.791-?_ 884+?del	deletion	Pathogenic
852	MLH1	NM_ 000249.3(MLH1): c.791_ 794delATCG (p.His264Leufs)	deletion	Pathogenic	rs267607799	GRCh37	Chr 3, 37058997: 37059000
853	MLH1	NM_ 000249.3(MLH1): c.793C> A (p.Arg265Ser)	SNV	Likely pathogenic	rs63751194	GRCh37	Chr 3, 37058999: 37058999
854	MLH1	NM_ 000249.3(MLH1): c.808_ 811delACTT (p.Thr270Profs)	deletion	Pathogenic	rs267607801	GRCh37	Chr 3, 37059014: 37059017
855	MLH1	NM_ 000249.3(MLH1): c.811_ 815delTCCTT (p.Ser271Glufs)	deletion	Pathogenic	rs587779043	GRCh37	Chr 3, 37059017: 37059021
856	MLH1	NM_ 000249.3(MLH1): c.821_ 824dupAAGC (p.Ile276Serfs)	duplication	Pathogenic	rs63751439	GRCh37	Chr 3, 37059027: 37059030
857	MLH1	NM_ 000249.3(MLH1): c.83C> T (p.Pro28Leu)	SNV	Pathogenic	rs63750792	GRCh37	Chr 3, 37035121: 37035121
858	MLH1	NM_ 000249.3(MLH1): c.840T> A (p.Tyr280Ter)	SNV	Pathogenic	rs63750938	GRCh37	Chr 3, 37059046: 37059046
859	MLH1	NM_ 000249.3(MLH1): c.842C> T (p.Ala281Val)	SNV	Pathogenic	rs63749950	GRCh37	Chr 3, 37059048: 37059048
860	MLH1	NM_ 000249.3(MLH1): c.84delA (p.Ala29Leufs)	deletion	Pathogenic	rs587779045	GRCh37	Chr 3, 37035122: 37035122
861	MLH1	NM_ 000249.3(MLH1): c.851T> A (p.Leu284Ter)	SNV	Pathogenic	rs63750889	GRCh37	Chr 3, 37059057: 37059057
862	MLH1	NM_ 000249.3(MLH1): c.856_ 857insT (p.Lys286Ilefs)	insertion	Pathogenic	rs63750212	GRCh37	Chr 3, 37059062: 37059063
863	MLH1	NM_ 000249.3(MLH1): c.859_ 860delAA (p.Asn287Hisfs)	deletion	Pathogenic	rs63750034	GRCh37	Chr 3, 37059065: 37059066
864	MLH1	NM_ 000249.3(MLH1): c.860delA (p.Asn287Thrfs)	deletion	Pathogenic	rs587779046	GRCh37	Chr 3, 37059066: 37059066
865	MLH1	NM_ 000249.3(MLH1): c.860dupA (p.Asn287Lysfs)	duplication	Pathogenic	rs63750814	GRCh37	Chr 3, 37059066: 37059066
866	MLH1	NM_ 000249.3(MLH1): c.866_ 867delAC (p.His289Profs)	deletion	Pathogenic	rs587779047	GRCh37	Chr 3, 37059072: 37059073
867	MLH1	NM_ 000249.3(MLH1): c.866_ 867dupAC (p.Pro290Thrfs)	duplication	Pathogenic	rs587779048	GRCh37	Chr 3, 37059072: 37059073
868	MLH1	NM_ 000249.3(MLH1): c.86C> G (p.Ala29Gly)	SNV	Pathogenic	rs63750216	GRCh37	Chr 3, 37035124: 37035124
869	MLH1	NM_ 000249.3(MLH1): c.882C> T (p.Leu294=)	SNV	Pathogenic	rs63751707	GRCh37	Chr 3, 37059088: 37059088
870	MLH1	NM_ 000249.3(MLH1): c.883A> C (p.Ser295Arg)	SNV	Pathogenic	rs63751598	GRCh37	Chr 3, 37059089: 37059089
871	MLH1	NM_ 000249.3(MLH1): c.883A> G (p.Ser295Gly)	SNV	Pathogenic	rs63751598	GRCh37	Chr 3, 37059089: 37059089
872	MLH1	NM_ 000249.3(MLH1): c.884+4A> G	SNV	Pathogenic	rs267607777	GRCh37	Chr 3, 37059094: 37059094
873	MLH1	NM_ 000249.3(MLH1): c.884G> A (p.Ser295Asn)	SNV	Pathogenic	rs63750144	GRCh37	Chr 3, 37059090: 37059090
874	MLH1	NM_ 000249.3(MLH1): c.884_ 884+3del	deletion	Pathogenic	rs587779050	GRCh37	Chr 3, 37059090: 37059093
875	MLH1	NM_ 000249.3(MLH1): c.885-206_ 997del	deletion	Pathogenic		GRCh37	Chr 3, 37061595: 37061913
876	MLH1	NM_ 000249.3(MLH1): c.885-493_ 1039-372del	deletion	Pathogenic		GRCh37	Chr 3, 37061308: 37066756
877	MLH1	NM_ 000249.3(MLH1): c.885-594_ 1038+1123del	deletion	Pathogenic		GRCh37	Chr 3, 37061207: 37063077
878	MLH1	NM_ 000249.3(MLH1): c.885-?_ (*193_ ?)del	deletion	Pathogenic		GRCh37	Chr 3, 37061801: 37092337
879	MLH1	NM_ 000249.3(MLH1): c.885-?_ 1038+?del	deletion	Pathogenic
880	MLH1	NM_ 000249.3(MLH1): c.885-?_ 1731+?del	deletion	Pathogenic
881	MLH1	NM_ 000249.3(MLH1): c.887T> G (p.Leu296Ter)	SNV	Pathogenic	rs63750547	GRCh37	Chr 3, 37061803: 37061803
882	MLH1	NM_ 000249.3(MLH1): c.887dupT (p.Leu296Phefs)	duplication	Pathogenic	rs63751620	GRCh37	Chr 3, 37061803: 37061803
883	MLH1	NM_ 000249.3(MLH1): c.888delA (p.Glu297Lysfs)	deletion	Pathogenic	rs267607809	GRCh37	Chr 3, 37061804: 37061804
884	MLH1	NM_ 000249.3(MLH1): c.889G> T (p.Glu297Ter)	SNV	Pathogenic	rs63750736	GRCh37	Chr 3, 37061805: 37061805
885	MLH1	NM_ 000249.3(MLH1): c.901C> T (p.Gln301Ter)	SNV	Pathogenic	rs63750489	GRCh37	Chr 3, 37061817: 37061817
886	MLH1	NM_ 000249.3(MLH1): c.901delC (p.Gln301Argfs)	deletion	Pathogenic	rs587779052	GRCh37	Chr 3, 37061817: 37061817
887	MLH1	NM_ 000249.3(MLH1): c.921_ 922dupGC (p.His308Argfs)	duplication	Pathogenic	rs63750962	GRCh37	Chr 3, 37061837: 37061838
888	MLH1	NM_ 000249.3(MLH1): c.928delA (p.Thr310Glnfs)	deletion	Pathogenic	rs587779055	GRCh37	Chr 3, 37061844: 37061844
889	MLH1	NM_ 000249.3(MLH1): c.935dupA (p.His312Glnfs)	duplication	Pathogenic	rs63750319	GRCh37	Chr 3, 37061851: 37061851
890	MLH1	NM_ 000249.3(MLH1): c.939dupA (p.Val314Serfs)	duplication	Pathogenic	rs63751259	GRCh37	Chr 3, 37061855: 37061855
891	MLH1	NM_ 000249.3(MLH1): c.954delC (p.His318Glnfs)	deletion	Pathogenic	rs63749926	GRCh37	Chr 3, 37061870: 37061870
892	MLH1	NM_ 000249.3(MLH1): c.955G> T (p.Glu319Ter)	SNV	Pathogenic	rs63750796	GRCh37	Chr 3, 37061871: 37061871
893	MLH1	NM_ 000249.3(MLH1): c.982C> T (p.Gln328Ter)	SNV	Pathogenic	rs587779058	GRCh37	Chr 3, 37061898: 37061898
894	MLH1	NM_ 000249.3(MLH1): c.994delA (p.Ser332Alafs)	deletion	Pathogenic	rs63750533	GRCh37	Chr 3, 37061910: 37061910
895	MLH1	NM_ 000249.3(MLH1): c.9delC (p.Phe3Leufs)	deletion	Pathogenic	rs63750745	GRCh37	Chr 3, 37035047: 37035047
896	MSH2	NM_ 000251.1(MSH2): c.(?_ -68)_ (*272_ ?)del	deletion	Pathogenic
897	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 1076+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47643568
898	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 1276+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47657080
899	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 1386+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47672796
900	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 1661+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47693947
901	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 1759+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47698201
902	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 211+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47630541
903	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 2634+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47708010
904	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 366+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47635694
905	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 645+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47637511
906	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 792+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47639699
907	MSH2	NM_ 000251.2(MSH2): c.(?_ -68)_ 942+?del	deletion	Pathogenic		GRCh37	Chr 2, 47630263: 47641557
908	MSH2	NM_ 000251.1(MSH2): c.-11844_ 1077-6021delins155	indel	Pathogenic
909	MSH2	NM_ 000251.1(MSH2): c.-1753_ 645+922del	deletion	Pathogenic		GRCh37	Chr 2, 47628578: 47638433
910	MSH2	NM_ 000251.1(MSH2): c.-35298_ 1276+5697del	deletion	Pathogenic
911	MSH2	NM_ 000251.1(MSH2): c.-47156_ 1277-4980del	deletion	Pathogenic
912	MSH2	NM_ 000251.1(MSH2): c.-4729_ 367-353del	deletion	Pathogenic		GRCh37	Chr 2, 47625602: 47636880
913	MSH2	NM_ 000251.1(MSH2): c.-75398_ 1759+1708del	deletion	Pathogenic
914	MSH2	NM_ 000251.1(MSH2): c.-823_ 1076+5984del	deletion	Pathogenic		GRCh37	Chr 2, 47629508: 47649552
915	MSH2	NM_ 000251.1(MSH2): c.-956_ 1077-5607del	deletion	Pathogenic		GRCh37	Chr 2, 47629375: 47651274
916	MSH2	NM_ 000251.2(MSH2): c.1000A> T (p.Lys334Ter)	SNV	Pathogenic	rs587779063	GRCh37	Chr 2, 47643492: 47643492
917	MSH2	NM_ 000251.2(MSH2): c.1007delC (p.Pro336Leufs)	deletion	Pathogenic	rs587779064	GRCh37	Chr 2, 47643499: 47643499
918	MSH2	NM_ 000251.2(MSH2): c.1009C> T (p.Gln337Ter)	SNV	Pathogenic	rs63750778	GRCh37	Chr 2, 47643501: 47643501
919	MSH2	NM_ 000251.2(MSH2): c.1013G> A (p.Gly338Glu)	SNV	Pathogenic	rs587779065	GRCh37	Chr 2, 47643505: 47643505
920	MSH2	NM_ 000251.2(MSH2): c.1017_ 1018delAA (p.Arg340Thrfs)	deletion	Pathogenic	rs63750703	GRCh37	Chr 2, 47643509: 47643510
921	MSH2	NM_ 000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)	duplication	Pathogenic	rs587779066	GRCh37	Chr 2, 47643510: 47643510
922	MSH2	NM_ 000251.2(MSH2): c.1034G> A (p.Trp345Ter)	SNV	Pathogenic	rs63751027	GRCh37	Chr 2, 47643526: 47643526
923	MSH2	NM_ 000251.2(MSH2): c.1035G> A (p.Trp345Ter)	SNV	Pathogenic	rs63750396	GRCh37	Chr 2, 47643527: 47643527
924	MSH2	NM_ 000251.2(MSH2): c.1037_ 1038dupTT (p.Lys347Leufs)	duplication	Pathogenic	rs63751483	GRCh37	Chr 2, 47643529: 47643530
925	MSH2	NM_ 000251.2(MSH2): c.1046C> T (p.Pro349Leu)	SNV	Pathogenic	rs587779067	GRCh37	Chr 2, 47643538: 47643538
926	MSH2	NM_ 000251.2(MSH2): c.1059delG (p.Asn354Thrfs)	deletion	Pathogenic	rs587779068	GRCh37	Chr 2, 47643551: 47643551
927	MSH2	NM_ 000251.2(MSH2): c.1075A> T (p.Arg359Ter)	SNV	Pathogenic	rs587779070	GRCh37	Chr 2, 47643567: 47643567
928	MSH2	NM_ 000251.2(MSH2): c.1076+1G> A	SNV	Pathogenic	rs267607940	GRCh37	Chr 2, 47643569: 47643569
929	MSH2	NM_ 000251.2(MSH2): c.1077-135_ 1276+119dup	duplication	Pathogenic		GRCh37	Chr 2, 47656746: 47657199
930	MSH2	NM_ 000251.2(MSH2): c.1077-220_ 1276+6245del	deletion	Pathogenic		GRCh37	Chr 2, 47656661: 47663325
931	MSH2	NM_ 000251.2(MSH2): c.1077-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47656881: 47710360
932	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 1276+?del	deletion	Pathogenic
933	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 1276+?dup200	duplication	Pathogenic
934	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 1386+?del	deletion	Pathogenic
935	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 1661+?del	deletion	Pathogenic
936	MSH2	NM_ 000251.2(MSH2): c.1077-?_ 2005+?del	deletion	Pathogenic
937	MSH2	NM_ 000251.2(MSH2): c.1077A> T (p.Arg359Ser)	SNV	Pathogenic	rs63751617	GRCh37	Chr 2, 47656881: 47656881
938	MSH2	NM_ 000251.2(MSH2): c.1077_ 1078ins173 (p.?)	insertion	Pathogenic		GRCh37	Chr 2, 47656881: 47656882
939	MSH2	NM_ 000251.2(MSH2): c.1097_ 1098insA (p.Phe366Leufs)	insertion	Pathogenic	rs267607693	GRCh37	Chr 2, 47656901: 47656902
940	MSH2	NM_ 000251.2(MSH2): c.1099delG (p.Val367Terfs)	deletion	Pathogenic	rs587779073	GRCh37	Chr 2, 47656903: 47656903
941	MSH2	NM_ 000251.2(MSH2): c.1108delG (p.Ala370Glnfs)	deletion	Pathogenic	rs63749814	GRCh37	Chr 2, 47656912: 47656912
942	MSH2	NM_ 000251.2(MSH2): c.110delT (p.Phe37Serfs)	deletion	Pathogenic	rs63751056	GRCh37	Chr 2, 47630440: 47630440
943	MSH2	NM_ 000251.2(MSH2): c.1119delG (p.Arg373Serfs)	deletion	Pathogenic	rs63750516	GRCh37	Chr 2, 47656923: 47656923
944	MSH2	NM_ 000251.2(MSH2): c.1120C> T (p.Gln374Ter)	SNV	Pathogenic	rs63750558	GRCh37	Chr 2, 47656924: 47656924
945	MSH2	NM_ 000251.2(MSH2): c.1127_ 1128dupTA (p.Gln377Tyrfs)	duplication	Pathogenic	rs63751219	GRCh37	Chr 2, 47656931: 47656932
946	MSH2	NM_ 000251.2(MSH2): c.1129C> T (p.Gln377Ter)	SNV	Pathogenic	rs63750267	GRCh37	Chr 2, 47656933: 47656933
947	MSH2	NM_ 000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)	deletion	Pathogenic	rs63750039	GRCh37	Chr 2, 47656943: 47656943
948	MSH2	NM_ 000251.2(MSH2): c.1144dupC (p.Arg382Profs)	duplication	Pathogenic	rs63750496	GRCh37	Chr 2, 47656948: 47656948
949	MSH2	NM_ 000251.2(MSH2): c.1147C> T (p.Arg383Ter)	SNV	Pathogenic	rs63749849	GRCh37	Chr 2, 47656951: 47656951
950	MSH2	NM_ 000251.2(MSH2): c.1165C> T (p.Arg389Ter)	SNV	Pathogenic	rs587779075	GRCh37	Chr 2, 47656969: 47656969
951	MSH2	NM_ 000251.2(MSH2): c.1183C> T (p.Gln395Ter)	SNV	Pathogenic	rs63750302	GRCh37	Chr 2, 47656987: 47656987
952	MSH2	NM_ 000251.2(MSH2): c.1189C> T (p.Gln397Ter)	SNV	Pathogenic	rs63750611	GRCh37	Chr 2, 47656993: 47656993
953	MSH2	NM_ 000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)	duplication	Pathogenic	rs63751169	GRCh37	Chr 2, 47656996: 47656996
954	MSH2	NM_ 000251.2(MSH2): c.1196_ 1197dupCA (p.Asn400Glnfs)	duplication	Pathogenic	rs63749850	GRCh37	Chr 2, 47657000: 47657001
955	MSH2	NM_ 000251.2(MSH2): c.119delG (p.Gly40Alafs)	deletion	Pathogenic	rs63750984	GRCh37	Chr 2, 47630449: 47630449
956	MSH2	NM_ 000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)	duplication	Pathogenic	rs63750586	GRCh37	Chr 2, 47657007: 47657007
957	MSH2	NM_ 000251.2(MSH2): c.1204C> T (p.Gln402Ter)	SNV	Pathogenic	rs63751412	GRCh37	Chr 2, 47657008: 47657008
958	MSH2	NM_ 000251.2(MSH2): c.1204delC (p.Gln402Lysfs)	deletion	Pathogenic	rs63751413	GRCh37	Chr 2, 47657008: 47657008
959	MSH2	NM_ 000251.2(MSH2): c.1215C> A (p.Tyr405Ter)	SNV	Pathogenic	rs63751271	GRCh37	Chr 2, 47657019: 47657019
960	MSH2	NM_ 000251.2(MSH2): c.1216_ 1219dupCGAC (p.Leu407Profs)	duplication	Pathogenic	rs63751192	GRCh37	Chr 2, 47657020: 47657023
961	MSH2	NM_ 000251.2(MSH2): c.1221_ 1222delCT (p.Tyr408Serfs)	deletion	Pathogenic	rs587779076	GRCh37	Chr 2, 47657025: 47657026
962	MSH2	NM_ 000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)	duplication	Pathogenic	rs63751142	GRCh37	Chr 2, 47657026: 47657026
963	MSH2	NM_ 000251.2(MSH2): c.1226_ 1227delAG (p.Gln409Argfs)	deletion	Pathogenic	rs63750086	GRCh37	Chr 2, 47657030: 47657031
964	MSH2	NM_ 000251.2(MSH2): c.1243_ 1246delCCTA (p.Pro415Metfs)	deletion	Pathogenic	rs63751206	GRCh37	Chr 2, 47657047: 47657050
965	MSH2	NM_ 000251.2(MSH2): c.1249_ 1253delGTTAT (p.Val417Thrfs)	deletion	Pathogenic	rs587779079	GRCh37	Chr 2, 47657053: 47657057
966	MSH2	NM_ 000251.2(MSH2): c.1249delG (p.Val417Leufs)	deletion	Pathogenic	rs63751059	GRCh37	Chr 2, 47657053: 47657053
967	MSH2	NM_ 000251.2(MSH2): c.1255C> T (p.Gln419Ter)	SNV	Pathogenic	rs63750006	GRCh37	Chr 2, 47657059: 47657059
968	MSH2	NM_ 000251.2(MSH2): c.1264G> T (p.Glu422Ter)	SNV	Pathogenic	rs63751712	GRCh37	Chr 2, 47657068: 47657068
969	MSH2	NM_ 000251.2(MSH2): c.1269dupA (p.His424Thrfs)	duplication	Pathogenic	rs63751667	GRCh37	Chr 2, 47657073: 47657073
970	MSH2	NM_ 000251.2(MSH2): c.1276+1G> A	SNV	Pathogenic	rs267607950	GRCh37	Chr 2, 47657081: 47657081
971	MSH2	NM_ 000251.1(MSH2): c.1276+232_ 1386+3798del	deletion	Pathogenic		GRCh37	Chr 2, 47657312: 47676594
972	MSH2	NM_ 000251.2(MSH2): c.1277-2A> G	SNV	Pathogenic	rs267607949	GRCh37	Chr 2, 47672685: 47672685
973	MSH2	NM_ 000251.2(MSH2): c.1277-572_ 1386+2326del	deletion	Pathogenic		GRCh37	Chr 2, 47672115: 47675122
974	MSH2	NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47672687: 47710360
975	MSH2	NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)inv	inversion	Pathogenic		GRCh37	Chr 2, 47672687: 47710360
976	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 1386+?del	deletion	Pathogenic
977	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 1661+?del	deletion	Pathogenic
978	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 1759+?del	deletion	Pathogenic
979	MSH2	NM_ 000251.2(MSH2): c.1277-?_ 2634+?del	deletion	Pathogenic
980	MSH2	NM_ 000251.2(MSH2): c.1285C> T (p.Gln429Ter)	SNV	Pathogenic	rs63751693	GRCh37	Chr 2, 47672695: 47672695
981	MSH2	NM_ 000251.2(MSH2): c.1287dupG (p.Lys430Glufs)	duplication	Pathogenic	rs63751626	GRCh37	Chr 2, 47672697: 47672697
982	MSH2	NM_ 000251.2(MSH2): c.1288A> T (p.Lys430Ter)	SNV	Pathogenic	rs63751646	GRCh37	Chr 2, 47672698: 47672698
983	MSH2	NM_ 000251.2(MSH2): c.1292T> A (p.Leu431Ter)	SNV	Pathogenic	rs63751315	GRCh37	Chr 2, 47672702: 47672702
984	MSH2	NM_ 000251.2(MSH2): c.129T> G (p.Tyr43Ter)	SNV	Pathogenic	rs63750894	GRCh37	Chr 2, 47630459: 47630459
985	MSH2	NM_ 000251.2(MSH2): c.1311_ 1334del24insNM_ 000251.1: c.1338_ 1361inv24 (p.Thr438_ Ser445delinsPheSerLysPheGlnGluMetIle)	indel	Pathogenic		GRCh37	Chr 2, 47672721: 47672744
986	MSH2	NM_ 000251.2(MSH2): c.1318_ 1319delCT (p.Leu440Tyrfs)	deletion	Pathogenic	rs587779083	GRCh37	Chr 2, 47672728: 47672729
987	MSH2	NM_ 000251.2(MSH2): c.1319T> C (p.Leu440Pro)	SNV	Pathogenic	rs587779084	GRCh37	Chr 2, 47672729: 47672729
988	MSH2	NM_ 000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)	duplication	Pathogenic	rs63750807	GRCh37	Chr 2, 47672731: 47672731
989	MSH2	NM_ 000251.2(MSH2): c.1340_ 1341insGG (p.Phe447Leufs)	insertion	Pathogenic	rs267607696	GRCh37	Chr 2, 47672750: 47672751
990	MSH2	NM_ 000251.2(MSH2): c.1345A> T (p.Lys449Ter)	SNV	Pathogenic	rs63749920	GRCh37	Chr 2, 47672755: 47672755
991	MSH2	NM_ 000251.2(MSH2): c.1345_ 1348delAAGT (p.Lys449Phefs)	deletion	Pathogenic	rs267607955	GRCh37	Chr 2, 47672755: 47672758
992	MSH2	NM_ 000251.2(MSH2): c.1352_ 1353delAG (p.Gln451Argfs)	deletion	Pathogenic	rs63750957	GRCh37	Chr 2, 47672762: 47672763
993	MSH2	NM_ 000251.2(MSH2): c.1354G> T (p.Glu452Ter)	SNV	Pathogenic	rs267607954	GRCh37	Chr 2, 47672764: 47672764
994	MSH2	NM_ 000251.2(MSH2): c.1358T> A (p.Met453Lys)	SNV	Pathogenic	rs63750697	GRCh37	Chr 2, 47672768: 47672768
995	MSH2	NM_ 000251.2(MSH2): c.136_ 164del29 (p.His46Glyfs)	deletion	Pathogenic	rs63751482	GRCh37	Chr 2, 47630466: 47630494
996	MSH2	NM_ 000251.2(MSH2): c.1373T> G (p.Leu458Ter)	SNV	Pathogenic	rs63750521	GRCh37	Chr 2, 47672783: 47672783
997	MSH2	NM_ 000251.2(MSH2): c.1386+1G> A	SNV	Likely pathogenic	rs267607957	GRCh37	Chr 2, 47672797: 47672797
998	MSH2	NM_ 000251.1(MSH2): c.1387-3976_ 1662-364del	deletion	Pathogenic		GRCh37	Chr 2, 47686194: 47697740
999	MSH2	NM_ 000251.2(MSH2): c.1387-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47690170: 47710360
1000	MSH2	NM_ 000251.2(MSH2): c.1387-?_ 1510+?del	deletion	Pathogenic
1001	MSH2	NM_ 000251.2(MSH2): c.1387-?_ 1661+?del	deletion	Pathogenic
1002	MSH2	NM_ 000251.2(MSH2): c.1387-?_ 1661+?dup275	duplication	Pathogenic
1003	MSH2	NM_ 000251.2(MSH2): c.1387-?_ 2458+?del	deletion	Pathogenic
1004	MSH2	NM_ 000251.2(MSH2): c.1390delG (p.Glu464Lysfs)	deletion	Pathogenic	rs587779088	GRCh37	Chr 2, 47690173: 47690173
1005	MSH2	NM_ 000251.2(MSH2): c.1399G> T (p.Glu467Ter)	SNV	Pathogenic	rs587779089	GRCh37	Chr 2, 47690182: 47690182
1006	MSH2	NM_ 000251.2(MSH2): c.1408delG (p.Val470Terfs)	deletion	Pathogenic	rs63750384	GRCh37	Chr 2, 47690191: 47690191
1007	MSH2	NM_ 000251.2(MSH2): c.1418C> G (p.Ser473Ter)	SNV	Pathogenic	rs63751403	GRCh37	Chr 2, 47690201: 47690201
1008	MSH2	NM_ 000251.2(MSH2): c.142G> T (p.Glu48Ter)	SNV	Pathogenic	rs63750615	GRCh37	Chr 2, 47630472: 47630472
1009	MSH2	NM_ 000251.2(MSH2): c.1433_ 1434dupTC (p.Glu480Valfs)	duplication	Pathogenic	rs587779091	GRCh37	Chr 2, 47690216: 47690217
1010	MSH2	NM_ 000251.2(MSH2): c.1444A> T (p.Arg482Ter)	SNV	Pathogenic	rs587779092	GRCh37	Chr 2, 47690227: 47690227
1011	MSH2	NM_ 000251.2(MSH2): c.1444delA (p.Arg482Glufs)	deletion	Pathogenic	rs63750068	GRCh37	Chr 2, 47690227: 47690227
1012	MSH2	NM_ 000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)	duplication	Pathogenic	rs63750436	GRCh37	Chr 2, 47690227: 47690227
1013	MSH2	NM_ 000251.2(MSH2): c.1445_ 1449delGAGAA (p.Arg482Asnfs)	deletion	Pathogenic	rs267607961	GRCh37	Chr 2, 47690228: 47690232
1014	MSH2	NM_ 000251.2(MSH2): c.1447G> T (p.Glu483Ter)	SNV	Pathogenic	rs63749947	GRCh37	Chr 2, 47690230: 47690230
1015	MSH2	NM_ 000251.2(MSH2): c.1447_ 1448delGA (p.Glu483Asnfs)	deletion	Pathogenic	rs63750161	GRCh37	Chr 2, 47690230: 47690231
1016	MSH2	NM_ 000251.2(MSH2): c.1457_ 1460delATGA (p.Asn486Thrfs)	deletion	Pathogenic	rs587776530	GRCh37	Chr 2, 47690240: 47690243
1017	MSH2	NM_ 000251.2(MSH2): c.1457delA (p.Asn486Metfs)	deletion	Pathogenic	rs63750986	GRCh37	Chr 2, 47690240: 47690240
1018	MSH2	NM_ 000251.2(MSH2): c.145_ 146delGA (p.Asp49Argfs)	deletion	Pathogenic	rs63750334	GRCh37	Chr 2, 47630475: 47630476
1019	MSH2	NM_ 000251.2(MSH2): c.145delG (p.Asp49Thrfs)	deletion	Pathogenic	rs63750644	GRCh37	Chr 2, 47630475: 47630475
1020	MSH2	NM_ 000251.2(MSH2): c.1476_ 1477delGCinsCT (p.Met492_ Gln493delinsIleTer)	indel	Pathogenic	rs63750583	GRCh37	Chr 2, 47690259: 47690260
1021	MSH2	NM_ 000251.2(MSH2): c.1477C> T (p.Gln493Ter)	SNV	Pathogenic	rs63750936	GRCh37	Chr 2, 47690260: 47690260
1022	MSH2	NM_ 000251.2(MSH2): c.1487T> A (p.Leu496Ter)	SNV	Pathogenic	rs587779093	GRCh37	Chr 2, 47690270: 47690270
1023	MSH2	NM_ 000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)	duplication	Pathogenic	rs63750362	GRCh37	Chr 2, 47690277: 47690277
1024	MSH2	NM_ 000251.2(MSH2): c.1497delA (p.Ala500Profs)	deletion	Pathogenic	rs63749963	GRCh37	Chr 2, 47690280: 47690280
1025	MSH2	NM_ 000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)	duplication	Pathogenic	rs587779094	GRCh37	Chr 2, 47690283: 47690283
1026	MSH2	NM_ 000251.2(MSH2): c.1511-2A> G	SNV	Pathogenic	rs267607962	GRCh37	Chr 2, 47693795: 47693795
1027	MSH2	NM_ 000251.2(MSH2): c.1511-?_ 2005+?del	deletion	Pathogenic
1028	MSH2	NM_ 000251.2(MSH2): c.1528C> T (p.Gln510Ter)	SNV	Pathogenic	rs587779097	GRCh37	Chr 2, 47693814: 47693814
1029	MSH2	NM_ 000251.2(MSH2): c.154_ 155insG (p.Leu52Argfs)	insertion	Pathogenic	rs63750352	GRCh37	Chr 2, 47630484: 47630485
1030	MSH2	NM_ 000251.2(MSH2): c.1552C> T (p.Gln518Ter)	SNV	Pathogenic	rs63750780	GRCh37	Chr 2, 47693838: 47693838
1031	MSH2	NM_ 000251.2(MSH2): c.1552_ 1553delCA (p.Gln518Valfs)	deletion	Pathogenic	rs63749930	GRCh37	Chr 2, 47693838: 47693839
1032	MSH2	NM_ 000251.2(MSH2): c.1566C> G (p.Tyr522Ter)	SNV	Pathogenic	rs63750224	GRCh37	Chr 2, 47693852: 47693852
1033	MSH2	NM_ 000251.2(MSH2): c.1576delA (p.Thr526Profs)	deletion	Pathogenic	rs63750094	GRCh37	Chr 2, 47693862: 47693862
1034	MSH2	NM_ 000251.2(MSH2): c.1578delC (p.Cys527Valfs)	deletion	Pathogenic	rs63750738	GRCh37	Chr 2, 47693864: 47693864
1035	MSH2	NM_ 000251.2(MSH2): c.1587delA (p.Glu530Lysfs)	deletion	Pathogenic	rs63750845	GRCh37	Chr 2, 47693873: 47693873
1036	MSH2	NM_ 000251.2(MSH2): c.1594dupG (p.Val532Glyfs)	duplication	Pathogenic	rs63750104	GRCh37	Chr 2, 47693880: 47693880
1037	MSH2	NM_ 000251.2(MSH2): c.1627delG (p.Asp543Ilefs)	deletion	Pathogenic	rs63750675	GRCh37	Chr 2, 47693913: 47693913
1038	MSH2	NM_ 000251.2(MSH2): c.1638_ 1639dupGA (p.Asn547Argfs)	duplication	Pathogenic	rs63750662	GRCh38	Chr 2, 47466785: 47466786
1039	MSH2	NM_ 000251.2(MSH2): c.163delC (p.Arg55Glyfs)	deletion	Pathogenic	rs63750337	GRCh37	Chr 2, 47630493: 47630493
1040	MSH2	NM_ 000251.2(MSH2): c.1660A> G (p.Ser554Gly)	SNV	Pathogenic	rs63751656	GRCh37	Chr 2, 47693946: 47693946
1041	MSH2	NM_ 000251.2(MSH2): c.1660A> T (p.Ser554Cys)	SNV	Pathogenic	rs63751656	GRCh37	Chr 2, 47693946: 47693946
1042	MSH2	NM_ 000251.2(MSH2): c.1661+1G> A	SNV	Likely pathogenic	rs267607969	GRCh37	Chr 2, 47693948: 47693948
1043	MSH2	NM_ 000251.2(MSH2): c.1661G> C (p.Ser554Thr)	SNV	Pathogenic	rs63750597	GRCh37	Chr 2, 47693947: 47693947
1044	MSH2	NM_ 000251.2(MSH2): c.1662-1G> A	SNV	Pathogenic	rs267607970	GRCh37	Chr 2, 47698103: 47698103
1045	MSH2	NM_ 000251.1(MSH2): c.1662-374_ 2458+467del	deletion	Pathogenic		GRCh37	Chr 2, 47697730: 47706125
1046	MSH2	NM_ 000251.2(MSH2): c.1662-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47698104: 47710360
1047	MSH2	NM_ 000251.2(MSH2): c.1662-?_ 1759+?del	deletion	Pathogenic
1048	MSH2	NM_ 000251.2(MSH2): c.1662-?_ 2458+?del	deletion	Pathogenic
1049	MSH2	NM_ 000251.2(MSH2): c.1665delA (p.Lys555Asnfs)	deletion	Pathogenic	rs63751120	GRCh37	Chr 2, 47698107: 47698107
1050	MSH2	NM_ 000251.2(MSH2): c.1667_ 1668insA (p.Thr557Aspfs)	insertion	Pathogenic	rs267607694	GRCh37	Chr 2, 47698109: 47698110
1051	MSH2	NM_ 000251.2(MSH2): c.1667delT (p.Leu556Terfs)	deletion	Pathogenic	rs587779100	GRCh37	Chr 2, 47698109: 47698109
1052	MSH2	NM_ 000251.2(MSH2): c.166G> T (p.Glu56Ter)	SNV	Pathogenic	rs587779102	GRCh37	Chr 2, 47630496: 47630496
1053	MSH2	NM_ 000251.2(MSH2): c.166delG (p.Glu56Argfs)	deletion	Pathogenic	rs63750087	GRCh37	Chr 2, 47630496: 47630496
1054	MSH2	NM_ 000251.2(MSH2): c.1676delT (p.Leu559Terfs)	deletion	Pathogenic	rs63750633	GRCh37	Chr 2, 47698118: 47698118
1055	MSH2	NM_ 000251.2(MSH2): c.1683delA (p.Glu562Serfs)	deletion	Pathogenic	rs63750406	GRCh37	Chr 2, 47698125: 47698125
1056	MSH2	NM_ 000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)	duplication	Pathogenic	rs587779103	GRCh37	Chr 2, 47698129: 47698129
1057	MSH2	NM_ 000251.2(MSH2): c.1693A> T (p.Lys565Ter)	SNV	Pathogenic	rs587779104	GRCh37	Chr 2, 47698135: 47698135
1058	MSH2	NM_ 000251.2(MSH2): c.1696_ 1697delAA (p.Asn566Terfs)	deletion	Pathogenic	rs63750737	GRCh37	Chr 2, 47698138: 47698139
1059	MSH2	NM_ 000251.2(MSH2): c.1699A> T (p.Lys567Ter)	SNV	Pathogenic	rs63751149	GRCh37	Chr 2, 47698141: 47698141
1060	MSH2	NM_ 000251.2(MSH2): c.1700_ 1704delAAACA (p.Lys567Argfs)	deletion	Pathogenic	rs63750474	GRCh37	Chr 2, 47698142: 47698146
1061	MSH2	NM_ 000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)	duplication	Pathogenic	rs587779105	GRCh37	Chr 2, 47698144: 47698144
1062	MSH2	NM_ 000251.2(MSH2): c.1705_ 1706dupGA (p.Tyr570Asnfs)	duplication	Pathogenic	rs281864941	GRCh37	Chr 2, 47698147: 47698148
1063	MSH2	NM_ 000251.2(MSH2): c.1705_ 1706insT (p.Glu569Valfs)	insertion	Pathogenic	rs587779106	GRCh37	Chr 2, 47698147: 47698148
1064	MSH2	NM_ 000251.2(MSH2): c.1717delG (p.Ala573Profs)	deletion	Pathogenic	rs267607974	GRCh37	Chr 2, 47698159: 47698159
1065	MSH2	NM_ 000251.2(MSH2): c.1720C> T (p.Gln574Ter)	SNV	Pathogenic	rs63751298	GRCh37	Chr 2, 47698162: 47698162
1066	MSH2	NM_ 000251.2(MSH2): c.1720delC (p.Gln574Argfs)	deletion	Pathogenic	rs63751299	GRCh37	Chr 2, 47698162: 47698162
1067	MSH2	NM_ 000251.2(MSH2): c.1738G> T (p.Glu580Ter)	SNV	Pathogenic	rs63751411	GRCh37	Chr 2, 47698180: 47698180
1068	MSH2	NM_ 000251.2(MSH2): c.1759+2T> A	SNV	Pathogenic	rs267607976	GRCh37	Chr 2, 47698203: 47698203
1069	MSH2	NM_ 000251.1(MSH2): c.1759+305_ 2006-34del	deletion	Pathogenic		GRCh37	Chr 2, 47698506: 47703472
1070	MSH2	NM_ 000251.2(MSH2): c.1759G> C (p.Gly587Arg)	SNV	Pathogenic	rs63751140	GRCh37	Chr 2, 47698201: 47698201
1071	MSH2	NM_ 000251.1(MSH2): c.1760-361_ 2634+838del	deletion	Pathogenic		GRCh37	Chr 2, 47701803: 47708848
1072	MSH2	NM_ 000251.2(MSH2): c.1760-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47702164: 47710360
1073	MSH2	NM_ 000251.2(MSH2): c.1760-?_ 2005+?del	deletion	Pathogenic
1074	MSH2	NM_ 000251.2(MSH2): c.1760-?_ 2210+?del	deletion	Pathogenic
1075	MSH2	NM_ 000251.2(MSH2): c.1760delG (p.Gly587Alafs)	deletion	Pathogenic	rs63750103	GRCh37	Chr 2, 47702164: 47702164
1076	MSH2	NM_ 000251.2(MSH2): c.1764T> G (p.Tyr588Ter)	SNV	Pathogenic	rs63750844	GRCh37	Chr 2, 47702168: 47702168
1077	MSH2	NM_ 000251.2(MSH2): c.1771_ 1772insA (p.Pro591Hisfs)	insertion	Pathogenic	rs267607977	GRCh37	Chr 2, 47702175: 47702176
1078	MSH2	NM_ 000251.2(MSH2): c.1777C> T (p.Gln593Ter)	SNV	Pathogenic	rs63750200	GRCh37	Chr 2, 47702181: 47702181
1079	MSH2	NM_ 000251.2(MSH2): c.1779_ 1782delGACA (p.Gln593Hisfs)	deletion	Pathogenic	rs63750113	GRCh37	Chr 2, 47702183: 47702186
1080	MSH2	NM_ 000251.2(MSH2): c.1781_ 1782insCT (p.Leu595Tyrfs)	insertion	Pathogenic	rs267607691	GRCh37	Chr 2, 47702185: 47702186
1081	MSH2	NM_ 000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)	duplication	Pathogenic	rs587779111	GRCh37	Chr 2, 47702191: 47702191
1082	MSH2	NM_ 000251.2(MSH2): c.1788_ 1789delTG (p.Asn596Lysfs)	deletion	Pathogenic	rs63750495	GRCh37	Chr 2, 47702192: 47702193
1083	MSH2	NM_ 000251.2(MSH2): c.1809delT (p.Asp603Glufs)	deletion	Pathogenic	rs63751129	GRCh37	Chr 2, 47702213: 47702213
1084	MSH2	NM_ 000251.2(MSH2): c.181C> T (p.Gln61Ter)	SNV	Pathogenic	rs63750951	GRCh37	Chr 2, 47630511: 47630511
1085	MSH2	NM_ 000251.2(MSH2): c.1827delT (p.His610Thrfs)	deletion	Pathogenic	rs587779112	GRCh37	Chr 2, 47702231: 47702231
1086	MSH2	NM_ 000251.2(MSH2): c.1835C> G (p.Ser612Ter)	SNV	Pathogenic	rs63750493	GRCh37	Chr 2, 47702239: 47702239
1087	MSH2	NM_ 000251.2(MSH2): c.1853delC (p.Pro618Hisfs)	deletion	Pathogenic	rs267607984	GRCh37	Chr 2, 47702257: 47702257
1088	MSH2	NM_ 000251.2(MSH2): c.1857T> G (p.Tyr619Ter)	SNV	Pathogenic	rs63750312	GRCh37	Chr 2, 47702261: 47702261
1089	MSH2	NM_ 000251.2(MSH2): c.1858_ 1859dupGT (p.Arg621Tyrfs)	duplication	Pathogenic	rs63750806	GRCh37	Chr 2, 47702262: 47702263
1090	MSH2	NM_ 000251.2(MSH2): c.1861C> T (p.Arg621Ter)	SNV	Pathogenic	rs63750508	GRCh37	Chr 2, 47702265: 47702265
1091	MSH2	NM_ 000251.2(MSH2): c.186_ 187dupGG (p.Val63Glyfs)	duplication	Pathogenic	rs281864942	GRCh37	Chr 2, 47630516: 47630517
1092	MSH2	NM_ 000251.2(MSH2): c.187delG (p.Val63Terfs)	deletion	Pathogenic	rs63750160	GRCh37	Chr 2, 47630517: 47630517
1093	MSH2	NM_ 000251.2(MSH2): c.187dupG (p.Val63Glyfs)	duplication	Pathogenic	rs281864942	GRCh37	Chr 2, 47630517: 47630517
1094	MSH2	NM_ 000251.2(MSH2): c.1885C> T (p.Gln629Ter)	SNV	Pathogenic	rs63750203	GRCh37	Chr 2, 47702289: 47702289
1095	MSH2	NM_ 000251.2(MSH2): c.1889_ 1892delGAAG (p.Gly630Glufs)	deletion	Pathogenic	rs63750960	GRCh37	Chr 2, 47702293: 47702296
1096	MSH2	NM_ 000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)	duplication	Pathogenic	rs587779114	GRCh37	Chr 2, 47702301: 47702301
1097	MSH2	NM_ 000251.2(MSH2): c.1911delC (p.Arg638Glyfs)	deletion	Pathogenic	rs63750893	GRCh37	Chr 2, 47702315: 47702315
1098	MSH2	NM_ 000251.2(MSH2): c.1924_ 1925delGT (p.Val642Terfs)	deletion	Pathogenic	rs587779117	GRCh37	Chr 2, 47702328: 47702329
1099	MSH2	NM_ 000251.2(MSH2): c.1967_ 1970dupACTT (p.Phe657Leufs)	duplication	Pathogenic	rs587779118	GRCh37	Chr 2, 47702371: 47702374
1100	MSH2	NM_ 000251.2(MSH2): c.1968C> G (p.Tyr656Ter)	SNV	Pathogenic	rs63751317	GRCh37	Chr 2, 47702372: 47702372
1101	MSH2	NM_ 000251.2(MSH2): c.1980_ 1981delTA (p.Asp660Glufs)	deletion	Pathogenic	rs587779119	GRCh37	Chr 2, 47702384: 47702385
1102	MSH2	NM_ 000251.2(MSH2): c.1982_ 1985delAACA (p.Lys661Argfs)	deletion	Pathogenic	rs587779120	GRCh37	Chr 2, 47702386: 47702389
1103	MSH2	NM_ 000251.2(MSH2): c.1984_ 1985delCA (p.Gln662Aspfs)	deletion	Pathogenic	rs587779121	GRCh37	Chr 2, 47702388: 47702389
1104	MSH2	NM_ 000251.2(MSH2): c.1986_ 1987delGA (p.Gln662Hisfs)	deletion	Pathogenic	rs587779122	GRCh37	Chr 2, 47702390: 47702391
1105	MSH2	NM_ 000251.2(MSH2): c.1986delG (p.Met663Cysfs)	deletion	Pathogenic	rs63749929	GRCh37	Chr 2, 47702390: 47702390
1106	MSH2	NM_ 000251.2(MSH2): c.1996_ 1997delAT (p.Ile666Hisfs)	deletion	Pathogenic	rs63751700	GRCh37	Chr 2, 47702400: 47702401
1107	MSH2	NM_ 000251.2(MSH2): c.2005+1G> A	SNV	Likely pathogenic	rs267607986	GRCh37	Chr 2, 47702410: 47702410
1108	MSH2	NM_ 000251.2(MSH2): c.2005+1G> T	SNV	Likely pathogenic	rs267607986	GRCh37	Chr 2, 47702410: 47702410
1109	MSH2	NM_ 000251.2(MSH2): c.2005+2T> C	SNV	Pathogenic	rs267607987	GRCh37	Chr 2, 47702411: 47702411
1110	MSH2	NM_ 000251.2(MSH2): c.2006-?_ 2210+?del	deletion	Pathogenic
1111	MSH2	NM_ 000251.2(MSH2): c.2006G> T (p.Gly669Val)	SNV	Pathogenic	rs63751640	GRCh37	Chr 2, 47703506: 47703506
1112	MSH2	NM_ 000251.2(MSH2): c.2010delC (p.Asn671Ilefs)	deletion	Pathogenic	rs63751123	GRCh37	Chr 2, 47703510: 47703510
1113	MSH2	NM_ 000251.2(MSH2): c.2015delT (p.Met672Argfs)	deletion	Pathogenic	rs63751161	GRCh37	Chr 2, 47703515: 47703515
1114	MSH2	NM_ 000251.2(MSH2): c.2021_ 2022delGT (p.Gly674Glufs)	deletion	Pathogenic	rs267608000	GRCh37	Chr 2, 47703521: 47703522
1115	MSH2	NM_ 000251.2(MSH2): c.2035_ 2036delAT (p.Ile679Serfs)	deletion	Pathogenic	rs587779129	GRCh37	Chr 2, 47703535: 47703536
1116	MSH2	NM_ 000251.2(MSH2): c.2046_ 2047delTG (p.Val684Aspfs)	deletion	Pathogenic	rs587779131	GRCh37	Chr 2, 47703546: 47703547
1117	MSH2	NM_ 000251.2(MSH2): c.2047G> A (p.Gly683Arg)	SNV	Pathogenic	rs267607995	GRCh37	Chr 2, 47703547: 47703547
1118	MSH2	NM_ 000251.2(MSH2): c.2048_ 2111dup64 (p.Ile704Metfs)	duplication	Pathogenic		GRCh37	Chr 2, 47703548: 47703611
1119	MSH2	NM_ 000251.2(MSH2): c.204delG (p.Pro69Argfs)	deletion	Pathogenic	rs63750199	GRCh37	Chr 2, 47630534: 47630534
1120	MSH2	NM_ 000251.2(MSH2): c.2063T> G (p.Met688Arg)	SNV	Pathogenic	rs63749993	GRCh37	Chr 2, 47703563: 47703563
1121	MSH2	NM_ 000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)	duplication	Pathogenic	rs63749878	GRCh37	Chr 2, 47703571: 47703571
1122	MSH2	NM_ 000251.2(MSH2): c.2074_ 2081delGGGTGTTT (p.Gly692Cysfs)	deletion	Pathogenic	rs587779135	GRCh37	Chr 2, 47703574: 47703581
1123	MSH2	NM_ 000251.2(MSH2): c.2087C> T (p.Pro696Leu)	SNV	Pathogenic	rs267607994	GRCh37	Chr 2, 47703587: 47703587
1124	MSH2	NM_ 000251.2(MSH2): c.2089T> C (p.Cys697Arg)	SNV	Pathogenic	rs63750961	GRCh37	Chr 2, 47703589: 47703589
1125	MSH2	NM_ 000251.2(MSH2): c.2090G> T (p.Cys697Phe)	SNV	Pathogenic	rs63750398	GRCh37	Chr 2, 47703590: 47703590
1126	MSH2	NM_ 000251.2(MSH2): c.2091T> A (p.Cys697Ter)	SNV	Pathogenic	rs63750872	GRCh37	Chr 2, 47703591: 47703591
1127	MSH2	NM_ 000251.2(MSH2): c.2096C> G (p.Ser699Ter)	SNV	Pathogenic	rs587779136	GRCh37	Chr 2, 47703596: 47703596
1128	MSH2	NM_ 000251.2(MSH2): c.20delA (p.Glu7Glyfs)	deletion	Pathogenic	rs267607915	GRCh37	Chr 2, 47630350: 47630350
1129	MSH2	NM_ 000251.1(MSH2): c.211+1566_ 1277-3954del	deletion	Pathogenic		GRCh37	Chr 2, 47632107: 47668733
1130	MSH2	NM_ 000251.2(MSH2): c.212-1G> A	SNV	Pathogenic	rs267607914	GRCh37	Chr 2, 47635539: 47635539
1131	MSH2	NM_ 000251.2(MSH2): c.212-478T> G	SNV	Pathogenic	rs587779138	GRCh37	Chr 2, 47635062: 47635062
1132	MSH2	NM_ 000251.2(MSH2): c.212-?_ 1076+?del	deletion	Pathogenic
1133	MSH2	NM_ 000251.2(MSH2): c.212-?_ 1276+?del	deletion	Pathogenic
1134	MSH2	NM_ 000251.2(MSH2): c.212-?_ 1386+?del	deletion	Pathogenic
1135	MSH2	NM_ 000251.2(MSH2): c.212-?_ 1510+?del	deletion	Pathogenic
1136	MSH2	NM_ 000251.2(MSH2): c.212-?_ 2458+?del	deletion	Pathogenic
1137	MSH2	NM_ 000251.2(MSH2): c.212-?_ 366+?del	deletion	Pathogenic
1138	MSH2	NM_ 000251.2(MSH2): c.212-?_ 645+?del	deletion	Pathogenic
1139	MSH2	NM_ 000251.2(MSH2): c.2131C> T (p.Arg711Ter)	SNV	Pathogenic	rs63750636	GRCh37	Chr 2, 47703631: 47703631
1140	MSH2	NM_ 000251.2(MSH2): c.2135dupT (p.Gly713Argfs)	duplication	Pathogenic	rs63751453	GRCh37	Chr 2, 47703635: 47703635
1141	MSH2	NM_ 000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)	duplication	Pathogenic	rs63750545	GRCh37	Chr 2, 47703641: 47703641
1142	MSH2	NM_ 000251.2(MSH2): c.2152C> T (p.Gln718Ter)	SNV	Pathogenic	rs587779139	GRCh37	Chr 2, 47703652: 47703652
1143	MSH2	NM_ 000251.2(MSH2): c.2160_ 2163delAGGA (p.Gly721Serfs)	deletion	Pathogenic	rs63750722	GRCh37	Chr 2, 47703660: 47703663
1144	MSH2	NM_ 000251.2(MSH2): c.2167dupT (p.Ser723Phefs)	duplication	Pathogenic	rs587779140	GRCh37	Chr 2, 47703667: 47703667
1145	MSH2	NM_ 000251.2(MSH2): c.2191G> T (p.Glu731Ter)	SNV	Pathogenic	rs63749802	GRCh37	Chr 2, 47703691: 47703691
1146	MSH2	NM_ 000251.2(MSH2): c.21dupG (p.Thr8Aspfs)	duplication	Pathogenic	rs281864943	GRCh37	Chr 2, 47630351: 47630351
1147	MSH2	NM_ 000251.2(MSH2): c.2204delT (p.Ile735Thrfs)	deletion	Pathogenic	rs63750572	GRCh37	Chr 2, 47703704: 47703704
1148	MSH2	NM_ 000251.1(MSH2): c.2210+116_ 2562del	deletion	Pathogenic		GRCh37	Chr 2, 47703826: 47707938
1149	MSH2	NM_ 000251.2(MSH2): c.2211-?_ 2458+?del	deletion	Pathogenic
1150	MSH2	NM_ 000251.2(MSH2): c.2228C> A (p.Ser743Ter)	SNV	Pathogenic	rs63751155	GRCh37	Chr 2, 47705428: 47705428
1151	MSH2	NM_ 000251.2(MSH2): c.2228C> G (p.Ser743Ter)	SNV	Pathogenic	rs63751155	GRCh37	Chr 2, 47705428: 47705428
1152	MSH2	NM_ 000251.2(MSH2): c.2228_ 2231delCATT (p.Ser743Terfs)	deletion	Pathogenic	rs63751156	GRCh37	Chr 2, 47705428: 47705431
1153	MSH2	NM_ 000251.2(MSH2): c.2231T> G (p.Leu744Ter)	SNV	Pathogenic	rs63750403	GRCh37	Chr 2, 47705431: 47705431
1154	MSH2	NM_ 000251.2(MSH2): c.2237_ 2238insA (p.Ile747Hisfs)	insertion	Pathogenic	rs267607690	GRCh37	Chr 2, 47705437: 47705438
1155	MSH2	NM_ 000251.2(MSH2): c.223_ 224delCT (p.Leu75Alafs)	deletion	Pathogenic	rs63750712	GRCh37	Chr 2, 47635551: 47635552
1156	MSH2	NM_ 000251.2(MSH2): c.2240_ 2241delTA (p.Ile747Argfs)	deletion	Pathogenic	rs63751036	GRCh37	Chr 2, 47705440: 47705441
1157	MSH2	NM_ 000251.2(MSH2): c.2251G> A (p.Gly751Arg)	SNV	Pathogenic	rs63751119	GRCh37	Chr 2, 47705451: 47705451
1158	MSH2	NM_ 000251.2(MSH2): c.2261delC (p.Thr754Ilefs)	deletion	Pathogenic	rs267608009	GRCh37	Chr 2, 47705461: 47705461
1159	MSH2	NM_ 000251.2(MSH2): c.226C> T (p.Gln76Ter)	SNV	Pathogenic	rs63750042	GRCh37	Chr 2, 47635554: 47635554
1160	MSH2	NM_ 000251.2(MSH2): c.2275G> T (p.Gly759Ter)	SNV	Pathogenic	rs63749854	GRCh37	Chr 2, 47705475: 47705475
1161	MSH2	NM_ 000251.2(MSH2): c.2290delT (p.Trp764Glyfs)	deletion	Pathogenic	rs63749913	GRCh37	Chr 2, 47705490: 47705490
1162	MSH2	NM_ 000251.2(MSH2): c.2291G> A (p.Trp764Ter)	SNV	Pathogenic	rs587779143	GRCh37	Chr 2, 47705491: 47705491
1163	MSH2	NM_ 000251.2(MSH2): c.2292G> A (p.Trp764Ter)	SNV	Pathogenic	rs63751105	GRCh37	Chr 2, 47705492: 47705492
1164	MSH2	NM_ 000251.2(MSH2): c.2294delC (p.Ala765Valfs)	deletion	Pathogenic	rs63750346	GRCh37	Chr 2, 47705494: 47705494
1165	MSH2	NM_ 000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)	deletion	Pathogenic	rs63751143	GRCh37	Chr 2, 47705495: 47705495
1166	MSH2	NM_ 000251.2(MSH2): c.229_ 230delAG (p.Ser77Cysfs)	deletion	Pathogenic	rs63749848	GRCh37	Chr 2, 47635557: 47635558
1167	MSH2	NM_ 000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)	deletion	Pathogenic	rs63750896	GRCh37	Chr 2, 47705505: 47705505
1168	MSH2	NM_ 000251.2(MSH2): c.2334C> A (p.Cys778Ter)	SNV	Pathogenic	rs63750618	GRCh37	Chr 2, 47705534: 47705534
1169	MSH2	NM_ 000251.2(MSH2): c.2335dupA (p.Met779Asnfs)	duplication	Pathogenic	rs63750149	GRCh37	Chr 2, 47705535: 47705535
1170	MSH2	NM_ 000251.2(MSH2): c.2347delC (p.His783Ilefs)	deletion	Pathogenic	rs63750233	GRCh37	Chr 2, 47705547: 47705547
1171	MSH2	NM_ 000251.2(MSH2): c.2360_ 2361dupTT (p.Thr788Leufs)	duplication	Pathogenic	rs63750803	GRCh37	Chr 2, 47705560: 47705561
1172	MSH2	NM_ 000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)	duplication	Pathogenic	rs63750803	GRCh37	Chr 2, 47705561: 47705561
1173	MSH2	NM_ 000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)	duplication	Pathogenic	rs63750463	GRCh37	Chr 2, 47705562: 47705562
1174	MSH2	NM_ 000251.2(MSH2): c.2388delT (p.Val797Leufs)	deletion	Pathogenic	rs63749983	GRCh37	Chr 2, 47705588: 47705588
1175	MSH2	NM_ 000251.2(MSH2): c.2408_ 2409delCA (p.Thr803Serfs)	deletion	Pathogenic	rs63750060	GRCh37	Chr 2, 47705608: 47705609
1176	MSH2	NM_ 000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)	duplication	Pathogenic	rs587779144	GRCh37	Chr 2, 47705618: 47705618
1177	MSH2	NM_ 000251.2(MSH2): c.2422G> T (p.Glu808Ter)	SNV	Pathogenic	rs34986638	GRCh37	Chr 2, 47705622: 47705622
1178	MSH2	NM_ 000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)	duplication	Pathogenic	rs63751079	GRCh37	Chr 2, 47705627: 47705627
1179	MSH2	NM_ 000251.2(MSH2): c.2432T> G (p.Leu811Ter)	SNV	Pathogenic	rs63751018	GRCh37	Chr 2, 47705632: 47705632
1180	MSH2	NM_ 000251.2(MSH2)	indel	Pathogenic		GRCh37	Chr 2, 47635571: 47635601
1181	MSH2	NM_ 000251.2(MSH2): c.2446C> T (p.Gln816Ter)	SNV	Pathogenic	rs63749917	GRCh37	Chr 2, 47705646: 47705646
1182	MSH2	NM_ 000251.2(MSH2): c.244A> T (p.Lys82Ter)	SNV	Pathogenic	rs587779145	GRCh37	Chr 2, 47635572: 47635572
1183	MSH2	NM_ 000251.2(MSH2): c.2458+1G> A	SNV	Likely pathogenic	rs267608010	GRCh37	Chr 2, 47705659: 47705659
1184	MSH2	NM_ 000251.2(MSH2): c.2459-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47707835: 47710360
1185	MSH2	NM_ 000251.2(MSH2): c.2459-?_ 2634+?del	deletion	Pathogenic
1186	MSH2	NM_ 000251.2(MSH2): c.2466_ 2467delTG (p.Cys822Terfs)	deletion	Pathogenic	rs63751621	GRCh37	Chr 2, 47707842: 47707843
1187	MSH2	NM_ 000251.2(MSH2): c.2470C> T (p.Gln824Ter)	SNV	Pathogenic	rs63750623	GRCh37	Chr 2, 47707846: 47707846
1188	MSH2	NM_ 000251.2(MSH2): c.2485_ 2498dupCATGTTGCAGAGCT (p.Ala834Metfs)	duplication	Pathogenic	rs587779146	GRCh37	Chr 2, 47707861: 47707874
1189	MSH2	NM_ 000251.2(MSH2): c.2485delC (p.His829Metfs)	deletion	Pathogenic	rs63751117	GRCh37	Chr 2, 47707861: 47707861
1190	MSH2	NM_ 000251.2(MSH2): c.2502_ 2508delTAATTTC (p.Asn835Leufs)	deletion	Pathogenic	rs63751447	GRCh37	Chr 2, 47707878: 47707884
1191	MSH2	NM_ 000251.2(MSH2): c.2507delT (p.Phe836Serfs)	deletion	Pathogenic	rs63750008	GRCh37	Chr 2, 47707883: 47707883
1192	MSH2	NM_ 000251.2(MSH2): c.2521delA (p.Ile841Terfs)	deletion	Pathogenic	rs587779147	GRCh37	Chr 2, 47707897: 47707897
1193	MSH2	NM_ 000251.2(MSH2): c.2525_ 2526delAG (p.Glu842Valfs)	deletion	Pathogenic	rs587779148	GRCh37	Chr 2, 47707901: 47707902
1194	MSH2	NM_ 000251.2(MSH2): c.2529_ 2530delTG (p.Ala844Terfs)	deletion	Pathogenic	rs63749975	GRCh37	Chr 2, 47707905: 47707906
1195	MSH2	NM_ 000251.2(MSH2): c.2536C> T (p.Gln846Ter)	SNV	Pathogenic	rs63750857	GRCh37	Chr 2, 47707912: 47707912
1196	MSH2	NM_ 000251.2(MSH2): c.2545delC (p.Leu849Trpfs)	deletion	Pathogenic	rs587779149	GRCh37	Chr 2, 47707921: 47707921
1197	MSH2	NM_ 000251.2(MSH2): c.255_ 256delTG (p.Phe85Leufs)	deletion	Pathogenic	rs267607921	GRCh37	Chr 2, 47635583: 47635584
1198	MSH2	NM_ 000251.2(MSH2): c.255dupT (p.Glu86Terfs)	duplication	Pathogenic	rs63751158	GRCh37	Chr 2, 47635583: 47635583
1199	MSH2	NM_ 000251.2(MSH2): c.2575G> T (p.Glu859Ter)	SNV	Pathogenic	rs63749830	GRCh37	Chr 2, 47707951: 47707951
1200	MSH2	NM_ 000251.2(MSH2): c.2579C> A (p.Ser860Ter)	SNV	Pathogenic	rs63750849	GRCh37	Chr 2, 47707955: 47707955
1201	MSH2	NM_ 000251.2(MSH2): c.2581C> T (p.Gln861Ter)	SNV	Pathogenic	rs63750291	GRCh37	Chr 2, 47707957: 47707957
1202	MSH2	NM_ 000251.2(MSH2): c.2593_ 2597delATCAT (p.Ile865Glyfs)	deletion	Pathogenic	rs587779151	GRCh37	Chr 2, 47707969: 47707973
1203	MSH2	NM_ 000251.2(MSH2): c.2620_ 2621ins115 (p.?)	insertion	Pathogenic		GRCh37	Chr 2, 47707996: 47707997
1204	MSH2	NM_ 000251.2(MSH2): c.2622T> A (p.Tyr874Ter)	SNV	Pathogenic	rs587779152	GRCh37	Chr 2, 47707998: 47707998
1205	MSH2	NM_ 000251.2(MSH2): c.2633_ 2634delAG (p.Glu878Alafs)	deletion	Pathogenic	rs63751618	GRCh37	Chr 2, 47708009: 47708010
1206	MSH2	NM_ 000251.2(MSH2): c.2634+5G> C	SNV	Pathogenic	rs267608017	GRCh37	Chr 2, 47708015: 47708015
1207	MSH2	NM_ 000251.2(MSH2): c.2634G> A (p.Glu878=)	SNV	Pathogenic	rs63751624	GRCh37	Chr 2, 47708010: 47708010
1208	MSH2	NM_ 000251.2(MSH2): c.2635-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47709918: 47710360
1209	MSH2	NM_ 000251.2(MSH2): c.2635C> T (p.Gln879Ter)	SNV	Pathogenic	rs63751469	GRCh37	Chr 2, 47709918: 47709918
1210	MSH2	NM_ 000251.2(MSH2): c.263_ 264delTT (p.Phe88Cysfs)	deletion	Pathogenic	rs267607920	GRCh37	Chr 2, 47635591: 47635592
1211	MSH2	NM_ 000251.2(MSH2): c.2647delA (p.Ile883Leufs)	deletion	Pathogenic	rs63750084	GRCh37	Chr 2, 47709930: 47709930
1212	MSH2	NM_ 000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)	duplication	Pathogenic	rs63750145	GRCh37	Chr 2, 47709930: 47709930
1213	MSH2	NM_ 000251.2(MSH2): c.2653C> T (p.Gln885Ter)	SNV	Pathogenic	rs63750808	GRCh37	Chr 2, 47709936: 47709936
1214	MSH2	NM_ 000251.2(MSH2): c.2662delC (p.Leu888Cysfs)	deletion	Pathogenic	rs63751007	GRCh37	Chr 2, 47709945: 47709945
1215	MSH2	NM_ 000251.2(MSH2): c.2740G> T (p.Glu914Ter)	SNV	Pathogenic	rs267608024	GRCh37	Chr 2, 47710023: 47710023
1216	MSH2	NM_ 000251.2(MSH2): c.2785C> T (p.Arg929Ter)	SNV	Pathogenic	rs551060742	GRCh37	Chr 2, 47710068: 47710068
1217	MSH2	NM_ 000251.2(MSH2): c.278_ 279delTT (p.Leu93Profs)	deletion	Pathogenic	rs63749872	GRCh37	Chr 2, 47635606: 47635607
1218	MSH2	NM_ 000251.2(MSH2): c.289C> T (p.Gln97Ter)	SNV	Pathogenic	rs63750970	GRCh37	Chr 2, 47635617: 47635617
1219	MSH2	NM_ 000251.2(MSH2): c.28C> T (p.Gln10Ter)	SNV	Pathogenic	rs63751099	GRCh37	Chr 2, 47630358: 47630358
1220	MSH2	NM_ 000251.2(MSH2): c.29dupA (p.Leu11Valfs)	duplication	Pathogenic	rs63750589	GRCh37	Chr 2, 47630359: 47630359
1221	MSH2	NM_ 000251.2(MSH2): c.301G> T (p.Glu101Ter)	SNV	Pathogenic	rs63750318	GRCh37	Chr 2, 47635629: 47635629
1222	MSH2	NM_ 000251.2(MSH2): c.344delA (p.Asn115Metfs)	deletion	Pathogenic	rs63751195	GRCh37	Chr 2, 47635672: 47635672
1223	MSH2	NM_ 000251.2(MSH2): c.347_ 350delATTG (p.Asp116Glyfs)	deletion	Pathogenic	rs63750501	GRCh37	Chr 2, 47635675: 47635678
1224	MSH2	NM_ 000251.2(MSH2): c.34dupG (p.Glu12Glyfs)	duplication	Pathogenic	rs63750614	GRCh37	Chr 2, 47630364: 47630364
1225	MSH2	NM_ 000251.2(MSH2): c.352dupT (p.Tyr118Leufs)	duplication	Pathogenic	rs587779159	GRCh37	Chr 2, 47635680: 47635680
1226	MSH2	NM_ 000251.2(MSH2): c.363T> G (p.Tyr121Ter)	SNV	Pathogenic	rs63750458	GRCh37	Chr 2, 47635691: 47635691
1227	MSH2	NM_ 000251.1(MSH2): c.367-371_ 646-513del	deletion	Pathogenic		GRCh37	Chr 2, 47636862: 47639040
1228	MSH2	NM_ 000251.1(MSH2): c.367-452_ 646-722del	deletion	Pathogenic		GRCh37	Chr 2, 47636781: 47638831
1229	MSH2	NM_ 000251.2(MSH2): c.367-480_ 645+644del	deletion	Pathogenic		GRCh37	Chr 2, 47636753: 47638155
1230	MSH2	NM_ 000251.1(MSH2): c.367-681_ 646-956del	deletion	Pathogenic		GRCh37	Chr 2, 47636552: 47638597
1231	MSH2	NM_ 000251.2(MSH2): c.367-?_ 1076+?del	deletion	Pathogenic
1232	MSH2	NM_ 000251.2(MSH2): c.367-?_ 1276+?del	deletion	Pathogenic
1233	MSH2	NM_ 000251.2(MSH2): c.367-?_ 1386+?del	deletion	Pathogenic
1234	MSH2	NM_ 000251.2(MSH2): c.367-?_ 1759+?del	deletion	Pathogenic
1235	MSH2	NM_ 000251.2(MSH2): c.367-?_ 645+?del	deletion	Pathogenic
1236	MSH2	NM_ 000251.2(MSH2): c.367-?_ 942+?del	deletion	Pathogenic
1237	MSH2	NM_ 000251.2(MSH2): c.368delC (p.Ala123Valfs)	deletion	Pathogenic	rs63750210	GRCh37	Chr 2, 47637234: 47637234
1238	MSH2	NM_ 000251.2(MSH2): c.380_ 381delAT (p.Asn127Thrfs)	deletion	Pathogenic	rs63751227	GRCh37	Chr 2, 47637246: 47637247
1239	MSH2	NM_ 000251.2(MSH2): c.387_ 388delTC (p.Gln130Valfs)	deletion	Pathogenic	rs63750924	GRCh37	Chr 2, 47637253: 47637254
1240	MSH2	NM_ 000251.2(MSH2): c.388_ 389delCA (p.Gln130Valfs)	deletion	Pathogenic	rs63750704	GRCh37	Chr 2, 47637254: 47637255
1241	MSH2	NM_ 000251.2(MSH2): c.399delC (p.Asp133Glufs)	deletion	Pathogenic	rs63751290	GRCh37	Chr 2, 47637265: 47637265
1242	MSH2	NM_ 000251.2(MSH2): c.408delT (p.Phe136Leufs)	deletion	Pathogenic	rs63750408	GRCh37	Chr 2, 47637274: 47637274
1243	MSH2	NM_ 000251.2(MSH2): c.416delA (p.Asn139Metfs)	deletion	Pathogenic	rs63750401	GRCh37	Chr 2, 47637282: 47637282
1244	MSH2	NM_ 000251.2(MSH2): c.425C> G (p.Ser142Ter)	SNV	Pathogenic	rs63750910	GRCh37	Chr 2, 47637291: 47637291
1245	MSH2	NM_ 000251.2(MSH2): c.472C> T (p.Gln158Ter)	SNV	Pathogenic	rs63751226	GRCh37	Chr 2, 47637338: 47637338
1246	MSH2	NM_ 000251.2(MSH2): c.478C> T (p.Gln160Ter)	SNV	Pathogenic	rs63751426	GRCh37	Chr 2, 47637344: 47637344
1247	MSH2	NM_ 000251.2(MSH2): c.484G> A (p.Gly162Arg)	SNV	Pathogenic	rs63750624	GRCh37	Chr 2, 47637350: 47637350
1248	MSH2	NM_ 000251.2(MSH2): c.488T> A (p.Val163Asp)	SNV	Pathogenic	rs63750214	GRCh37	Chr 2, 47637354: 47637354
1249	MSH2	NM_ 000251.2(MSH2): c.490G> A (p.Gly164Arg)	SNV	Pathogenic	rs63750582	GRCh37	Chr 2, 47637356: 47637356
1250	MSH2	NM_ 000251.2(MSH2): c.506_ 509delTACA (p.Ile169Argfs)	deletion	Pathogenic	rs63751013	GRCh37	Chr 2, 47637372: 47637375
1251	MSH2	NM_ 000251.2(MSH2): c.508C> T (p.Gln170Ter)	SNV	Pathogenic	rs63750843	GRCh37	Chr 2, 47637374: 47637374
1252	MSH2	NM_ 000251.2(MSH2): c.511_ 583dup73 (p.Gly195Glufs)	duplication	Pathogenic		GRCh37	Chr 2, 47637377: 47637449
1253	MSH2	NM_ 000251.2(MSH2): c.513delG (p.Lys172Asnfs)	deletion	Pathogenic	rs63750933	GRCh37	Chr 2, 47637379: 47637379
1254	MSH2	NM_ 000251.2(MSH2): c.518delT (p.Leu173Glnfs)	deletion	Pathogenic	rs63750069	GRCh37	Chr 2, 47637384: 47637384
1255	MSH2	NM_ 000251.2(MSH2): c.528_ 529delTG (p.Cys176Terfs)	deletion	Pathogenic	rs587779164	GRCh37	Chr 2, 47637394: 47637395
1256	MSH2	NM_ 000251.2(MSH2): c.529G> T (p.Glu177Ter)	SNV	Pathogenic	rs63750382	GRCh37	Chr 2, 47637395: 47637395
1257	MSH2	NM_ 000251.2(MSH2): c.530_ 531delAA (p.Glu177Valfs)	deletion	Pathogenic	rs63750551	GRCh37	Chr 2, 47637396: 47637397
1258	MSH2	NM_ 000251.2(MSH2): c.547C> T (p.Gln183Ter)	SNV	Pathogenic	rs63750037	GRCh37	Chr 2, 47637413: 47637413
1259	MSH2	NM_ 000251.2(MSH2): c.551delT (p.Phe184Serfs)	deletion	Pathogenic	rs267607928	GRCh37	Chr 2, 47637417: 47637417
1260	MSH2	NM_ 000251.2(MSH2): c.560T> C (p.Leu187Pro)	SNV	Pathogenic	rs63751444	GRCh37	Chr 2, 47637426: 47637426
1261	MSH2	NM_ 000251.2(MSH2): c.560T> G (p.Leu187Arg)	SNV	Pathogenic	rs63751444	GRCh37	Chr 2, 47637426: 47637426
1262	MSH2	NM_ 000251.2(MSH2): c.571_ 573delCTC (p.Leu191del)	deletion	Pathogenic	rs587779165	GRCh37	Chr 2, 47637437: 47637439
1263	MSH2	NM_ 000251.2(MSH2): c.577C> T (p.Gln193Ter)	SNV	Pathogenic	rs63751326	GRCh37	Chr 2, 47637443: 47637443
1264	MSH2	NM_ 000251.2(MSH2): c.587delC (p.Pro196Glnfs)	deletion	Pathogenic	rs63750682	GRCh37	Chr 2, 47637453: 47637453
1265	MSH2	NM_ 000251.2(MSH2): c.592dupG (p.Glu198Glyfs)	duplication	Pathogenic	rs63750786	GRCh37	Chr 2, 47637458: 47637458
1266	MSH2	NM_ 000251.2(MSH2): c.595T> C (p.Cys199Arg)	SNV	Pathogenic	rs63751110	GRCh37	Chr 2, 47637461: 47637461
1267	MSH2	NM_ 000251.2(MSH2): c.610G> T (p.Gly204Ter)	SNV	Pathogenic	rs63750574	GRCh37	Chr 2, 47637476: 47637476
1268	MSH2	NM_ 000251.2(MSH2): c.613G> T (p.Glu205Ter)	SNV	Pathogenic	rs63749984	GRCh37	Chr 2, 47637479: 47637479
1269	MSH2	NM_ 000251.2(MSH2): c.616dupA (p.Thr206Asnfs)	duplication	Pathogenic	rs63750995	GRCh37	Chr 2, 47637482: 47637482
1270	MSH2	NM_ 000251.2(MSH2): c.638_ 639delTG (p.Leu213Glnfs)	deletion	Pathogenic	rs63751622	GRCh37	Chr 2, 47637504: 47637505
1271	MSH2	NM_ 000251.2(MSH2): c.642_ 645delACAG (p.Gln215Terfs)	deletion	Pathogenic	rs63751695	GRCh37	Chr 2, 47637508: 47637511
1272	MSH2	NM_ 000251.2(MSH2): c.643C> T (p.Gln215Ter)	SNV	Pathogenic	rs63751274	GRCh37	Chr 2, 47637509: 47637509
1273	MSH2	NM_ 000251.2(MSH2): c.645+1G> A	SNV	Pathogenic	rs267607689	GRCh37	Chr 2, 47637512: 47637512
1274	MSH2	NM_ 000251.2(MSH2): c.645+1G> T	SNV	Likely pathogenic	rs267607689	GRCh37	Chr 2, 47637512: 47637512
1275	MSH2	NM_ 000251.1(MSH2): c.645+539_ 1077-3451del	deletion	Pathogenic		GRCh37	Chr 2, 47638050: 47653430
1276	MSH2	NM_ 000251.1(MSH2): c.645+791_ 1076+4894del	deletion	Pathogenic		GRCh37	Chr 2, 47638302: 47648462
1277	MSH2	NM_ 000251.1(MSH2): c.645+967_ 1076+5075del	deletion	Pathogenic		GRCh37	Chr 2, 47638478: 47648643
1278	MSH2	NM_ 000251.2(MSH2): c.646-3T> G	SNV	Pathogenic	rs267607930	GRCh37	Chr 2, 47639550: 47639550
1279	MSH2	NM_ 000251.2(MSH2): c.646-?_ *(272_ ?)del	deletion	Pathogenic		GRCh37	Chr 2, 47639553: 47710360
1280	MSH2	NM_ 000251.2(MSH2): c.646-?_ 1076+?del	deletion	Pathogenic
1281	MSH2	NM_ 000251.2(MSH2): c.646-?_ 1276+?del	deletion	Pathogenic
1282	MSH2	NM_ 000251.2(MSH2): c.646-?_ 1386+?del	deletion	Pathogenic
1283	MSH2	NM_ 000251.2(MSH2): c.646-?_ 792+?del	deletion	Pathogenic
1284	MSH2	NM_ 000251.2(MSH2): c.646-?_ 942+?del	deletion	Pathogenic
1285	MSH2	NM_ 000251.2(MSH2): c.650_ 654delTTCAA (p.Ile217Lysfs)	deletion	Pathogenic	rs63751602	GRCh37	Chr 2, 47639557: 47639561
1286	MSH2	NM_ 000251.2(MSH2): c.652C> T (p.Gln218Ter)	SNV	Pathogenic	rs587779170	GRCh37	Chr 2, 47639559: 47639559
1287	MSH2	NM_ 000251.2(MSH2): c.675_ 679delAGAAAinsTAAT (p.Glu226Asnfs)	indel	Pathogenic	rs587779172	GRCh37	Chr 2, 47639582: 47639586
1288	MSH2	NM_ 000251.2(MSH2): c.685A> T (p.Lys229Ter)	SNV	Pathogenic	rs587779173	GRCh37	Chr 2, 47639592: 47639592
1289	MSH2	NM_ 000251.2(MSH2): c.687delA (p.Ala230Leufs)	deletion	Pathogenic	rs63749897	GRCh37	Chr 2, 47639594: 47639594
1290	MSH2	NM_ 000251.2(MSH2): c.687dupA (p.Ala230Serfs)	duplication	Pathogenic	rs63750364	GRCh37	Chr 2, 47639594: 47639594
1291	MSH2	NM_ 000251.2(MSH2): c.691delG (p.Asp231Thrfs)	deletion	Pathogenic	rs587779174	GRCh37	Chr 2, 47639598: 47639598
1292	MSH2	NM_ 000251.2(MSH2): c.696_ 697delTT (p.Ser233Hisfs)	deletion	Pathogenic	rs63750426	GRCh37	Chr 2, 47639603: 47639604
1293	MSH2	NM_ 000251.2(MSH2): c.704_ 705delAA (p.Lys235Argfs)	deletion	Pathogenic	rs281864944	GRCh37	Chr 2, 47639611: 47639612
1294	MSH2	NM_ 000251.2(MSH2): c.705delA (p.Asp236Thrfs)	deletion	Pathogenic	rs281864945	GRCh37	Chr 2, 47639612: 47639612
1295	MSH2	NM_ 000251.2(MSH2): c.711_ 714delTTAT (p.Tyr238Argfs)	deletion	Pathogenic	rs63751288	GRCh37	Chr 2, 47639618: 47639621
1296	MSH2	NM_ 000251.2(MSH2): c.715C> T (p.Gln239Ter)	SNV	Pathogenic	rs63750488	GRCh37	Chr 2, 47639622: 47639622
1297	MSH2	NM_ 000251.2(MSH2): c.717_ 721delGGACCinsTTA (p.Gln239Hisfs)	indel	Pathogenic	rs63750690	GRCh37	Chr 2, 47639624: 47639628
1298	MSH2	NM_ 000251.2(MSH2): c.71dupA (p.Met26Hisfs)	duplication	Pathogenic	rs587779175	GRCh37	Chr 2, 47630401: 47630401
1299	MSH2	NM_ 000251.2(MSH2): c.725dupA (p.Asn242Lysfs)	duplication	Pathogenic	rs587779176	GRCh37	Chr 2, 47639632: 47639632
1300	MSH2	NM_ 000251.2(MSH2): c.735dupG (p.Lys246Glufs)	duplication	Pathogenic	rs63750107	GRCh37	Chr 2, 47639642: 47639642
1301	MSH2	NM_ 000251.2(MSH2): c.736A> T (p.Lys246Ter)	SNV	Pathogenic	rs63750881	GRCh37	Chr 2, 47639643: 47639643
1302	MSH2	NM_ 000251.2(MSH2): c.73_ 74insC (p.Gly25Alafs)	insertion	Pathogenic	rs587779177	GRCh37	Chr 2, 47630403: 47630404
1303	MSH2	NM_ 000251.2(MSH2): c.746delA (p.Lys249Argfs)	deletion	Pathogenic	rs63749832	GRCh37	Chr 2, 47639653: 47639653
1304	MSH2	NM_ 000251.2(MSH2): c.754C> T (p.Gln252Ter)	SNV	Pathogenic	rs63750347	GRCh37	Chr 2, 47639661: 47639661
1305	MSH2	NM_ 000251.2(MSH2): c.759_ 762delGAAT (p.Met253Ilefs)	deletion	Pathogenic	rs267607931	GRCh37	Chr 2, 47639666: 47639669
1306	MSH2	NM_ 000251.2(MSH2): c.759delG (p.Met253Ilefs)	deletion	Pathogenic	rs63751160	GRCh37	Chr 2, 47639666: 47639666
1307	MSH2	NM_ 000251.2(MSH2): c.761delA (p.Asn254Ilefs)	deletion	Pathogenic	rs587779179	GRCh38	Chr 2, 47412529: 47412529
1308	MSH2	NM_ 000251.2(MSH2): c.763_ 766delAGTGinsTT (p.Ser255Phefs)	indel	Pathogenic	rs63750329	GRCh37	Chr 2, 47639670: 47639673
1309	MSH2	NM_ 000251.2(MSH2): c.767_ 768dupCT (p.Val257Leufs)	duplication	Pathogenic	rs587779181	GRCh37	Chr 2, 47639674: 47639675
1310	MSH2	NM_ 000251.2(MSH2): c.788_ 789delAT (p.Asn263Thrfs)	deletion	Pathogenic	rs63751614	GRCh37	Chr 2, 47639695: 47639696
1311	MSH2	NM_ 000251.2(MSH2): c.792+1G> A	SNV	Pathogenic	rs267607934	GRCh37	Chr 2, 47639700: 47639700
1312	MSH2	NM_ 000251.1(MSH2): c.792+8_ 943-450del	deletion	Pathogenic		GRCh37	Chr 2, 47639707: 47642985
1313	MSH2	NM_ 000251.2(MSH2): c.793-6_ 942+450del	deletion	Pathogenic		GRCh37	Chr 2, 47641402: 47642007
1314	MSH2	NM_ 000251.2(MSH2): c.793-?_ 1076+?del	deletion	Pathogenic
1315	MSH2	NM_ 000251.2(MSH2): c.793-?_ 1276+?del484	deletion	Pathogenic
1316	MSH2	NM_ 000251.2(MSH2): c.793-?_ 1386+?deldel594	deletion	Pathogenic
1317	MSH2	NM_ 000251.2(MSH2): c.793-?_ 942+?del	deletion	Pathogenic
1318	MSH2	NM_ 000251.2(MSH2): c.795delT (p.Ala266Glnfs)	deletion	Pathogenic	rs63749902	GRCh37	Chr 2, 47641410: 47641410
1319	MSH2	NM_ 000251.2(MSH2): c.810_ 811delGT (p.Ser271Cysfs)	deletion	Pathogenic	rs63751133	GRCh37	Chr 2, 47641425: 47641426
1320	MSH2	NM_ 000251.2(MSH2): c.811_ 814delTCTG (p.Ser271Argfs)	deletion	Pathogenic	rs587779185	GRCh37	Chr 2, 47641426: 47641429
1321	MSH2	NM_ 000251.2(MSH2): c.82G> T (p.Glu28Ter)	SNV	Pathogenic	rs63751246	GRCh37	Chr 2, 47630412: 47630412
1322	MSH2	NM_ 000251.2(MSH2): c.82delG (p.Glu28Argfs)	deletion	Pathogenic	rs587779188	GRCh37	Chr 2, 47630412: 47630412
1323	MSH2	NM_ 000251.2(MSH2): c.836delT (p.Leu279Profs)	deletion	Pathogenic	rs63751159	GRCh37	Chr 2, 47641451: 47641451
1324	MSH2	NM_ 000251.2(MSH2): c.839dupT (p.Leu280Phefs)	duplication	Pathogenic	rs63750091	GRCh37	Chr 2, 47641454: 47641454
1325	MSH2	NM_ 000251.2(MSH2): c.842C> A (p.Ser281Ter)	SNV	Pathogenic	rs63749991	GRCh37	Chr 2, 47641457: 47641457
1326	MSH2	NM_ 000251.2(MSH2): c.854delA (p.Asn285Thrfs)	deletion	Pathogenic	rs63750701	GRCh37	Chr 2, 47641469: 47641469
1327	MSH2	NM_ 000251.2(MSH2): c.859G> T (p.Gly287Ter)	SNV	Pathogenic	rs63750276	GRCh37	Chr 2, 47641474: 47641474
1328	MSH2	NM_ 000251.2(MSH2): c.862C> T (p.Gln288Ter)	SNV	Pathogenic	rs63750097	GRCh37	Chr 2, 47641477: 47641477
1329	MSH2	NM_ 000251.2(MSH2): c.863delA (p.Gln288Argfs)	deletion	Pathogenic	rs587779189	GRCh37	Chr 2, 47641478: 47641478
1330	MSH2	NM_ 000251.2(MSH2): c.868G> T (p.Glu290Ter)	SNV	Pathogenic	rs587779190	GRCh37	Chr 2, 47641483: 47641483
1331	MSH2	NM_ 000251.2(MSH2): c.873_ 876delGACT (p.Thr292Leufs)	deletion	Pathogenic	rs587779191	GRCh37	Chr 2, 47641488: 47641491
1332	MSH2	NM_ 000251.2(MSH2): c.881_ 882delTT (p.Phe294Terfs)	deletion	Pathogenic	rs63751115	GRCh37	Chr 2, 47641496: 47641497
1333	MSH2	NM_ 000251.2(MSH2): c.888delC (p.Phe296Leufs)	deletion	Pathogenic	rs587779192	GRCh37	Chr 2, 47641503: 47641503
1334	MSH2	NM_ 000251.2(MSH2): c.892C> T (p.Gln298Ter)	SNV	Pathogenic	rs63750934	GRCh37	Chr 2, 47641507: 47641507
1335	MSH2	NM_ 000251.2(MSH2): c.898_ 899dupAT (p.Met300Ilefs)	duplication	Pathogenic	rs63750885	GRCh37	Chr 2, 47641513: 47641514
1336	MSH2	NM_ 000251.2(MSH2): c.901A> T (p.Lys301Ter)	SNV	Pathogenic	rs63749915	GRCh37	Chr 2, 47641516: 47641516
1337	MSH2	NM_ 000251.2(MSH2): c.905T> A (p.Leu302Ter)	SNV	Pathogenic	rs63749914	GRCh37	Chr 2, 47641520: 47641520
1338	MSH2	NM_ 000251.2(MSH2): c.915_ 922dupAGCAGTCA (p.Arg308Lysfs)	duplication	Pathogenic	rs63750046	GRCh37	Chr 2, 47641530: 47641537
1339	MSH2	NM_ 000251.2(MSH2): c.929T> C (p.Leu310Pro)	SNV	Pathogenic	rs63750640	GRCh37	Chr 2, 47641544: 47641544
1340	MSH2	NM_ 000251.2(MSH2): c.942G> A (p.Gln314=)	SNV	Pathogenic	rs587779197	GRCh37	Chr 2, 47641557: 47641557
1341	MSH2	NM_ 000251.2(MSH2): c.943-1G> C	SNV	Likely pathogenic	rs12476364	GRCh37	Chr 2, 47643434: 47643434
1342	MSH2	NM_ 000251.1(MSH2): c.943-926_ 1077-1449del	deletion	Pathogenic		GRCh37	Chr 2, 47642509: 47655432
1343	MSH2	NM_ 000251.2(MSH2): c.943-?_ 1076+?del	deletion	Pathogenic
1344	MSH2	NM_ 000251.2(MSH2): c.94_ 103delACCACAGTGC (p.Thr32Alafs)	deletion	Pathogenic	rs63750728	GRCh37	Chr 2, 47630424: 47630433
1345	MSH2	NM_ 000251.2(MSH2): c.958dupA (p.Thr320Asnfs)	duplication	Pathogenic	rs63749852	GRCh37	Chr 2, 47643450: 47643450
1346	MSH2	NM_ 000251.2(MSH2): c.970C> T (p.Gln324Ter)	SNV	Pathogenic	rs63750502	GRCh37	Chr 2, 47643462: 47643462
1347	MSH2	NM_ 000251.2(MSH2): c.970_ 971delCA (p.Gln324Valfs)	deletion	Pathogenic	rs63751044	GRCh37	Chr 2, 47643462: 47643463
1348	MSH2	NM_ 000251.2(MSH2): c.970_ 971ins4	insertion	Pathogenic	rs587779199	GRCh37	Chr 2, 47643462: 47643463
1349	MSH2	NM_ 000251.1(MSH2): c.972_ 973insNM_ 002133.2: c.737-1292_ 737-1109	insertion	Pathogenic
1350	MSH2	NM_ 000251.2(MSH2): c.973dupT (p.Ser325Phefs)	duplication	Pathogenic	rs63749945	GRCh37	Chr 2, 47643465: 47643465
1351	PMS2	NM_ 000535.5(PMS2): c.(?_ -87)_ (*160_ ?)del	deletion	Pathogenic
1352	PMS2	NM_ 000535.6(PMS2): c.(?_ -87)_ 1144+?del	deletion	Pathogenic		GRCh38	Chr 7, 5989800: 6009106
1353	PMS2	NM_ 000535.6(PMS2): c.(?_ -87)_ 23+?del	deletion	Pathogenic		GRCh37	Chr 7, 6048628: 6048737
1354	PMS2	NM_ 000535.6(PMS2): c.1076dupT (p.Leu359Phefs)	duplication	Pathogenic	rs267608156	GRCh37	Chr 7, 6029499: 6029499
1355	PMS2	NM_ 000535.6(PMS2): c.1112_ 1113delATinsTTTA (p.Asn371Ilefs)	indel	Pathogenic	rs587779326	GRCh37	Chr 7, 6029462: 6029463
1356	PMS2	NM_ 000535.6(PMS2): c.1144+2T> A	SNV	Likely pathogenic	rs267608158	GRCh37	Chr 7, 6029429: 6029429
1357	PMS2	NM_ 000535.5(PMS2): c.1145-1350_ *20545del	deletion	Pathogenic
1358	PMS2	NM_ 000535.6(PMS2): c.1145-?_ 2174+?del	deletion	Pathogenic
1359	PMS2	NM_ 000535.6(PMS2): c.1145-?_ 2445+?del	deletion	Pathogenic
1360	PMS2	NM_ 000535.6(PMS2): c.1169_ 1170ins20 (p.?)	insertion	Pathogenic	rs587779327	GRCh37	Chr 7, 6027226: 6027227
1361	PMS2	NM_ 000535.6(PMS2): c.1261C> T (p.Arg421Ter)	SNV	Pathogenic	rs587778617	GRCh37	Chr 7, 6027135: 6027135
1362	PMS2	NM_ 000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)	duplication	Pathogenic	rs63750106	GRCh37	Chr 7, 6027090: 6027090
1363	PMS2	NM_ 000535.5(PMS2): c.164-518_ 803+252delinsCG	indel	Pathogenic		GRCh38	Chr 7, 5997074: 6004576
1364	PMS2	NM_ 000535.6(PMS2): c.1730dupA (p.Arg578Alafs)	duplication	Pathogenic	rs587779330	GRCh37	Chr 7, 6026666: 6026666
1365	PMS2	NM_ 000535.6(PMS2): c.1738A> T (p.Lys580Ter)	SNV	Pathogenic	rs267608169	GRCh37	Chr 7, 6026658: 6026658
1366	PMS2	NM_ 000535.6(PMS2): c.1768delA (p.Ile590Phefs)	deletion	Pathogenic	rs63750477	GRCh37	Chr 7, 6026628: 6026628
1367	PMS2	NM_ 000535.6(PMS2): c.182delA (p.Tyr61Leufs)	deletion	Pathogenic	rs63750793	GRCh37	Chr 7, 6043671: 6043671
1368	PMS2	NM_ 000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)	duplication	Pathogenic	rs63750250	GRCh37	Chr 7, 6026565: 6026565
1369	PMS2	NM_ 000535.6(PMS2): c.1840A> T (p.Lys614Ter)	SNV	Pathogenic	rs63750490	GRCh37	Chr 7, 6026556: 6026556
1370	PMS2	NM_ 000535.6(PMS2): c.1927C> T (p.Gln643Ter)	SNV	Pathogenic	rs63751422	GRCh37	Chr 7, 6026469: 6026469
1371	PMS2	NM_ 000535.6(PMS2): c.1939A> T (p.Lys647Ter)	SNV	Pathogenic	rs201451115	GRCh37	Chr 7, 6026457: 6026457
1372	PMS2	NM_ 000535.6(PMS2): c.2174+1G> A	SNV	Pathogenic	rs267608172	GRCh37	Chr 7, 6022454: 6022454
1373	PMS2	NM_ 000535.6(PMS2): c.2192_ 2196delTAACT (p.Leu731Cysfs)	deletion	Pathogenic	rs63750695	GRCh37	Chr 7, 6018306: 6018310
1374	PMS2	NM_ 000535.6(PMS2): c.219_ 220dupTG (p.Gly74Valfs)	duplication	Pathogenic	rs587779336	GRCh37	Chr 7, 6043633: 6043634
1375	PMS2	NM_ 000535.6(PMS2): c.2243_ 2246delAGAA (p.Lys748Metfs)	deletion	Pathogenic	rs267608173	GRCh37	Chr 7, 6018256: 6018259
1376	PMS2	NM_ 000535.6(PMS2): c.2276-113_ 2445+1596del	deletion	Pathogenic		GRCh37	Chr 7, 6015623: 6017501
1377	PMS2	NM_ 000535.6(PMS2): c.2276-91_ 2445+790del	deletion	Pathogenic		GRCh37	Chr 7, 6016429: 6017479
1378	PMS2	NM_ 000535.6(PMS2): c.2361_ 2364delCTTC (p.Phe788Cysfs)	deletion	Pathogenic	rs267608160	GRCh37	Chr 7, 6017300: 6017303
1379	PMS2	NM_ 000535.6(PMS2): c.24-12_ 107del96insAAAT	indel	Pathogenic		GRCh37	Chr 7, 6045579: 6045674
1380	PMS2	NM_ 000535.6(PMS2): c.24-?_ 163+?del	deletion	Pathogenic
1381	PMS2	NM_ 000535.6(PMS2): c.354-?_ *(160_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5973239: 6002636
1382	PMS2	NM_ 000535.6(PMS2): c.354-?_ 803+?del	deletion	Pathogenic
1383	PMS2	NM_ 000535.6(PMS2): c.538-478_ 705+456del	deletion	Pathogenic		GRCh37	Chr 7, 6038283: 6039384
1384	PMS2	NM_ 000535.6(PMS2): c.543delT (p.Tyr181Terfs)	deletion	Pathogenic	rs63751029	GRCh37	Chr 7, 6038901: 6038901
1385	PMS2	NM_ 000535.6(PMS2): c.593dupT (p.Arg199Profs)	duplication	Pathogenic	rs267608148	GRCh37	Chr 7, 6038851: 6038851
1386	PMS2	NM_ 000535.6(PMS2): c.697C> T (p.Gln233Ter)	SNV	Pathogenic	rs587779343	GRCh37	Chr 7, 6038747: 6038747
1387	PMS2	NM_ 000535.6(PMS2): c.703C> T (p.Gln235Ter)	SNV	Pathogenic	rs63750261	GRCh37	Chr 7, 6038741: 6038741
1388	PMS2	NM_ 000535.6(PMS2): c.706-?_ 803+?del	deletion	Pathogenic
1389	PMS2	NM_ 000535.6(PMS2): c.736_ 741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)	indel	Pathogenic	rs267608150	GRCh37	Chr 7, 6037019: 6037024
1390	PMS2	NM_ 000535.6(PMS2): c.780delC (p.Asp261Metfs)	deletion	Pathogenic	rs587779344	GRCh37	Chr 7, 6036980: 6036980
1391	PMS2	NM_ 000535.6(PMS2): c.802dupT (p.Tyr268Leufs)	duplication	Pathogenic	rs267608149	GRCh37	Chr 7, 6036958: 6036958
1392	PMS2	NM_ 000535.5(PMS2): c.804-60_ 804-59insJN866832.1	insertion	Pathogenic
1393	PMS2	NM_ 000535.6(PMS2): c.804-?_ 2006+?del	deletion	Pathogenic		GRCh38	Chr 7, 5986759: 5995633
1394	PMS2	NM_ 000535.6(PMS2): c.804-?_ 903+?del	deletion	Pathogenic
1395	PMS2	NM_ 000535.6(PMS2): c.861_ 864delACAG (p.Arg287Serfs)	deletion	Pathogenic	rs267608154	GRCh37	Chr 7, 6035204: 6035207
1396	PMS2	NM_ 000535.6(PMS2): c.862_ 863delCA (p.Gln288Valfs)	deletion	Pathogenic	rs63750246	GRCh37	Chr 7, 6035205: 6035206
1397	PMS2	NM_ 000535.6(PMS2): c.904-?_ *(160_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5973239: 5992057
1398	PMS2	NM_ 000535.6(PMS2): c.904-?_ 1144+?del	deletion	Pathogenic		GRCh38	Chr 7, 5989800: 5992057
1399	PMS2	NM_ 000535.6(PMS2): c.904-?_ 988+?del	deletion	Pathogenic
1400	PMS2	NM_ 000535.6(PMS2): c.943C> T (p.Arg315Ter)	SNV	Pathogenic	rs200640585	GRCh37	Chr 7, 6031649: 6031649
1401	PMS2	NM_ 000535.6(PMS2): c.949C> T (p.Gln317Ter)	SNV	Pathogenic	rs143277125	GRCh37	Chr 7, 6031643: 6031643
1402	PMS2	NM_ 000535.6(PMS2): c.989-296_ 1144+706del	deletion	Pathogenic		GRCh38	Chr 7, 5989094: 5990251
1403	PMS2	NM_ 000535.6(PMS2): c.989-2A> G	SNV	Likely pathogenic	rs587779347	GRCh37	Chr 7, 6029588: 6029588
1404	PMS2	NM_ 000535.6(PMS2): c.989-?_ *(160_ ?)del	deletion	Pathogenic		GRCh38	Chr 7, 5973239: 5989955
1405	PMS2	NM_ 000535.6(PMS2): c.400C> T (p.Arg134Ter)	SNV	Pathogenic	rs63750871	GRCh37	Chr 7, 6042221: 6042221
1406	PMS2	NM_ 000535.6(PMS2): c.1221delG (p.Thr408Leufs)	deletion	Pathogenic	rs587776715	GRCh37	Chr 7, 6027175: 6027175
1407	PMS2	NM_ 000535.6(PMS2): c.2404C> T (p.Arg802Ter)	SNV	Pathogenic	rs63751466	GRCh37	Chr 7, 6017260: 6017260
1408	PMS2	NM_ 000535.6(PMS2): c.1021delA (p.Arg341Glyfs)	deletion	Pathogenic	rs63750049	GRCh38	Chr 7, 5989923: 5989923
1409	PMS2	NM_ 000535.6(PMS2): c.1882C> T (p.Arg628Ter)	SNV	Pathogenic	rs63750451	GRCh37	Chr 7, 6026514: 6026514
1410	PMS2	NM_ 000535.6(PMS2): c.137G> T (p.Ser46Ile)	SNV	Likely pathogenic	rs121434629	GRCh37	Chr 7, 6045549: 6045549
1411	MSH6	NM_ 000179.2(MSH6): c.3477C> A (p.Tyr1159Ter)	SNV	Pathogenic	rs398123231	GRCh37	Chr 2, 48032087: 48032087
1412	MSH6	NM_ 000179.2(MSH6): c.3516_ 3517delAG (p.Arg1172Serfs)	deletion	Pathogenic	rs398123232	GRCh37	Chr 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
1	134337	2	1	68600000	Copy number	MSH2	Lynch syndrome
2	145649	2	41800000	47800000	Copy number	MSH2	Hereditary non-polyposis colorectal cancer
3	146237	2	47483766	47760012	Deletion	MSH2	Hereditary non-polyposis colorectal cancer
4	146238	2	47483766	47760012	Deletion	MSH2	Lynch syndrome
5	146240	2	47483766	47760012	Duplication	MSH2	Hereditary non-polyposis colorectal cancer
6	146253	2	47483766	47760012	Genomic rearrangemen t	MSH2	Lynch syndrome
7	146257	2	47483766	47760012	Rearrangement	MSH2	Lynch syndrome
8	146288	2	47630206	47710367	Deletion	MSH2	Hereditary non-polyposis colorectal cancer
9	146318	2	47800000	61300000	Copy number	MSH6	Hereditary non-polyposis colorectal cancer
10	146327	2	47863724	47887596	Copy number	MSH6	Lynch syndrome
11	146329	2	47863724	47887596	Deletion	MSH6	Hereditary non-polyposis colorectal cancer
12	146343	2	47863724	47887596	Genomic rearrangemen t	MSH6	Lynch syndrome
13	166103	3	1	50600000	Copy number	MLH1	Lynch syndrome
14	168775	3	13300000	39400000	Copy number		Lynch syndrome
15	174998	3	37009982	37067341	Deletion	MLH1	Hereditary non-polyposis colorectal cancer
16	174999	3	37009982	37067341	Deletion	MLH1	Lynch syndrome
17	175001	3	37009982	37067341	Duplication	MLH1	Hereditary non-polyposis colorectal cancer
18	175014	3	37009982	37067341	Genomic rearrangemen t	MLH1	Lynch syndrome
19	175017	3	37009982	37067341	Rearrangement	MLH1	Lynch syndrome
20	175023	3	37034841	37092337	Mutation	MLH1	Hereditary non-polyposis colorectal cancer
21	217078	7	1	45400000	Copy number	PMS2	Lynch syndrome
22	217125	7	1	7200000	Deletion	PMS2	Lynch syndrome
23	244889	9	1	2200000	Copy number		Lynch syndrome

Expression for genes affiliated with Lynch Syndrome

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for genes affiliated with Lynch Syndrome

Sources:
³Cell Signaling Technology, ³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁶PharmGKB, ⁵⁸QIAGEN, ⁵⁹R&D Systems, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

Pathways related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 30)

id	Super pathways	Score	Top Affiliating Genes
1	Doxorubicin Pathway, Pharmacokinetics⁵⁶ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics⁵⁶	10.0	MLH1, MSH2, TP53
2	Platinum Pathway, Pharmacokinetics/Pharmacodynamics⁵⁶	10.0	MLH1, MSH2, MSH6, PMS2
3	Retinoblastoma (RB) in Cancer⁴²	10.0	MSH6, POLE, TP53
4	MAPK Signaling: Oxidative Stress Pathway⁵⁹	10.0	BRAF, KRAS, TP53
5	Thyroid cancer³⁴	10.0	BRAF, KRAS, TP53
6	Fanconi anemia pathway⁶⁰ ³⁴ Show member pathways Fanconi Anemia Pathway⁶⁰	9.9	BRCA1, BRCA2, MLH1, PMS2
7	Integrated Cancer Pathway⁴²	9.8	BRCA1, MSH2, MSH6, TP53
8	Direct p53 effectors⁴²	9.8	APC, MLH1,

Lynch Syndrome (COCA1) malady

Aliases & Classifications for Lynch Syndrome

Aliases & Descriptions for Lynch Syndrome:

Characteristics:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Lynch Syndrome

Related Diseases for Lynch Syndrome

Diseases in the Lynch Syndrome family:

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

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

Symptoms & Phenotypes for Lynch Syndrome

Human phenotypes related to Lynch Syndrome:

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

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

Drugs & Therapeutics for Lynch Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Genetic Tests for Lynch Syndrome

Genetic tests related to Lynch Syndrome:

Anatomical Context for Lynch Syndrome

MalaCards organs/tissues related to Lynch Syndrome:

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

Genes related to Lynch Syndrome

Genes related to Lynch Syndrome (5 elite genes):

Variations for Lynch Syndrome

Clinvar genetic disease variations for Lynch Syndrome:

Copy number variations for Lynch Syndrome from CNVD:

Expression for genes affiliated with Lynch Syndrome

Pathways for genes affiliated with Lynch Syndrome

Pathways related to Lynch Syndrome according to GeneCards Suite gene sharing: