MCID: CLR070
MIFTS: 55

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 malady

Categories: Genetic diseases (common), Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Aliases & Descriptions for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 1 52 12 68
Hereditary Non-Polyposis Colorectal Cancer 1 70 27
Lynch Syndrome Type Ii 70 27
Lynch Syndrome Type I 70 27
Colorectal Cancer, Hereditary Nonpolyposis, Type 3 68
Hereditary Non-Polyposis Colorectal Cancer 3 70
Hereditary Non-Polyposis Colon Cancer Type 2 68
 
Hereditary Nonpolyposis Colorectal Cancer 68
Lynch Cancer Family Syndrome 70
Lynch Syndrome Ii 50
Lynch Syndrome I 50
Lynch Syndrome 70
Hnpcc1 70
Hnpcc3 70

Characteristics:

HPO:

64
colorectal cancer, hereditary nonpolyposis, type 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 120435
MeSH39 D003123

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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OMIM:52 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic... (120435) more...

MalaCards based summary: Colorectal Cancer, Hereditary Nonpolyposis, Type 1, also known as hereditary non-polyposis colorectal cancer 1, is related to colorectal cancer and lynch syndrome, and has symptoms including colon cancer An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1 is MSH2 (MutS Homolog 2), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Busulfan Pathway, Pharmacodynamics. Affiliated tissues include colon, skin and small intestine, and related mouse phenotypes are Decreased viability with cisplatin and Synthetic lethal with cisplatin.

UniProtKB/Swiss-Prot:70 Hereditary non-polyposis colorectal cancer 1: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 1 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer25.9BRCA1, BRCA2, EPCAM, MLH1, MLH3, MSH2
2lynch syndrome11.2
3gastric cancer, somatic10.9
4acquired amegakaryocytic thrombocytopenia10.4MSH2, MSH6
5angioimmunoblastic lymphadenopathy with dysproteinemia10.4MLH1, MSH2
6pityriasis rosea10.4MLH1, MSH2
7cervical adenomyoma10.4MLH1, MSH2
8colver steer godman syndrome10.4MLH1, MSH2
9sleeping sickness10.3MLH1, MSH6
10hyperaldosteronism10.3MLH1, MSH2
11periapical granuloma10.2MLH1, MSH2
12postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma10.2BRCA2, PMS2
13prostate embryonal rhabdomyosarcoma10.1MSH2, MSH6, PMS2
14spleen angiosarcoma10.1MLH1, MSH2, MSH6
15food allergy10.1MLH1, MSH2, MSH6
16solitary bone cyst10.1MLH1, MSH2, MSH6
17optic papillitis10.1MLH1, MSH2, MSH6
18arrhythmogenic right ventricular cardiomyopathy10.1MLH1, MSH2, MSH6
19congenital hypomyelination neuropathy10.0MLH1, MSH2
20congenital pulmonary veins atresia or stenosis9.9BRCA1, BRCA2
21bronchopulmonary dysplasia9.9BRCA1, BRCA2
22cutaneous lupus erythematosus9.9BRCA1, BRCA2
23autoimmune disease of blood9.9BRCA1, BRCA2
24selective ige deficiency disease9.9BRCA1, BRCA2
25familial breast cancer9.9BRCA1, BRCA2
26breast cancer, childhood9.9BRCA1, BRCA2
27lethal congenital contracture syndrome 79.9BRCA1, BRCA2
28cervical serous adenocarcinoma9.9BRCA1, BRCA2
29fat necrosis of breast9.9BRCA1, BRCA2
30amyloid tumor9.9BRCA1, BRCA2
31ovarian brenner tumor9.9BRCA1, BRCA2
32fallopian tube germ cell cancer9.9BRCA1, BRCA2
33rectum mucinous adenocarcinoma9.9BRCA1, BRCA2
34chronic frontal sinusitis9.9BRCA1, BRCA2
35papillary adenofibroma9.8BRCA1, BRCA2
36internal auditory canal lipoma9.8BRCA1, BRCA2
37ovarian cancer, somatic9.8BRCA1, BRCA2
38spindle cell synovial sarcoma9.8BRCA1, BRCA2
39leiomyosarcoma9.8BRCA1, BRCA2
40breast squamous cell carcinoma9.8BRCA1, BRCA2
41distal monosomy 9p9.8BRCA1, BRCA2
42myasthenia gravis, limb-girdle9.8BRCA1, BRCA2
43large intestine adenocarcinoma9.8MLH1, MSH2, MSH6, PMS2
44ductal carcinoma in situ9.8BRCA1, BRCA2
45hereditary essential tremor 59.8MLH1, MSH2, MSH6, PMS2
46subependymal glioma9.8MLH1, MSH2, MSH6, PMS2
47muir-torre syndrome9.7MLH1, MSH2, MSH6, PMS2
48mismatch repair cancer syndrome9.7MLH1, MSH2, MSH6, PMS2
49neurofibromatosis-noonan syndrome9.7MLH1, MSH2, MSH6, PMS2
50cerebellar disease9.7MLH1, MSH2, MSH6, PMS2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:



Diseases related to colorectal cancer, hereditary nonpolyposis, type 1

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

 64
id Description HPO Frequency HPO Source Accession
1 colon cancer64 HP:0003003

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00101-A-410.0BRCA1, BRCA2
2GR00101-A-19.8BRCA1, BRCA2
3GR00381-A-19.5BRCA1, MLH3, MSH2
4GR00362-A8.6MLH1, MLH3, MSH6, PMS2
5GR00250-A-37.7BRCA1, BRCA2, MLH1, MLH3, MSH2, MSH6

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8BRCA1, BRCA2, MLH1, MSH2, MSH6
2MP:00053898.3BRCA1, BRCA2, MLH1, MLH3, PMS2
3MP:00020068.3BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2
4MP:00053818.2BRCA1, BRCA2, EPCAM, MLH1, MSH2, PMS2
5MP:00053798.0BRCA1, BRCA2, EPCAM, MLH1, MLH3, PMS2
6MP:00053847.9BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6
7MP:00053767.9BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6
8MP:00107687.8BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevoleucovorinapprovedPhase 371168538-85-2
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
2
leucovorinapprovedPhase 3108958-05-9143, 54575
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
3
FluorouracilapprovedPhase 3179151-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
4
Oxaliplatinapproved, investigationalPhase 3141261825-94-35310940, 9887054, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
5
Bevacizumabapproved, investigationalPhase 31968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
6
Aspirinapproved, vet_approvedPhase 3111250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
7
Folic Acidapproved, nutraceutical, vet_approvedPhase 3427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
8ImmunoglobulinsPhase 3, Phase 26045
9Immunosuppressive AgentsPhase 312770
10VitaminsPhase 35095
11Vitamin B ComplexPhase 34229
12Trace ElementsPhase 35802
13Immunoglobulin GPhase 3265
14MitogensPhase 31526
15Angiogenesis InhibitorsPhase 34143
16Protective AgentsPhase 37190
17MicronutrientsPhase 35802
18Antibodies, MonoclonalPhase 3, Phase 23795
19AntidotesPhase 31038
20AntibodiesPhase 3, Phase 26045
21HematinicsPhase 31630
22Angiogenesis Modulating AgentsPhase 34072
23Antimetabolites, AntineoplasticPhase 37171
24AntimetabolitesPhase 311774
25Endothelial Growth FactorsPhase 3362
26Bone Density Conservation AgentsPhase 33266
27Calcium, DietaryPhase 35525
28Antirheumatic AgentsPhase 310627
29Platelet Aggregation InhibitorsPhase 32419
30Acetylsalicylic acid lysinatePhase 312
31Fibrinolytic AgentsPhase 32317
32AntipyreticsPhase 31534
33Peripheral Nervous System AgentsPhase 322776
34Cyclooxygenase InhibitorsPhase 32778
35Analgesics, Non-NarcoticPhase 36260
36Anti-Inflammatory Agents, Non-SteroidalPhase 34295
37AnalgesicsPhase 311287
38Anti-Inflammatory AgentsPhase 310355
39ColaNutraceuticalPhase 31881
40Folinic AcidNutraceuticalPhase 33150
41FolateNutraceuticalPhase 34279
42Vitamin B9NutraceuticalPhase 34279
43
nivolumabapprovedPhase 2326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
44
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
45
Pembrolizumabapproved4211374853-91-4
Synonyms:
Keytruda
 
MK-3475
lambrolizumab
46pancreatin935

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
2Finding the Best Dose of Aspirin to Prevent Lynch Syndrome CancersNot yet recruitingNCT02497820Phase 3
3Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch SyndromeNot yet recruitingNCT02813824Phase 3
4Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite InstabilityNot yet recruitingNCT02912559Phase 3
5Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin CancersNot yet recruitingNCT02978625Phase 2
6Hypodontia and Ovarian CancerUnknown statusNCT01470235
7Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
8Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
9Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
10Cancer Research Repository for Individuals With Cancer Diagnosis, High Risk Individuals, and Individuals With No History of Cancer (Control)RecruitingNCT02012699
11Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632
12Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain TumorsSuspendedNCT02359565

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Genetic test Affiliating Genes
1 Lynch Syndrome Ii27
2 Lynch Syndrome I27
3 Colorectal Cancer, Hereditary, Nonpolyposis, Type 127

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

36
Colon, Skin, Small intestine, Uterus, Ovary, Endothelial, Brain

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

70 (show all 69)
id Symbol AA change Variation ID SNP ID
1MSH2p.His46GlnVAR_004470rs33946261
2MSH2p.Asn139SerVAR_004472
3MSH2p.Asp167HisVAR_004474rs63750255
4MSH2p.Ala305ThrVAR_004476rs63751454
5MSH2p.Arg524ProVAR_004479rs63751207
6MSH2p.Glu562ValVAR_004480rs63750997
7MSH2p.Pro622LeuVAR_004482rs28929483
8MSH2p.His639TyrVAR_004483rs28929484
9MSH2p.Gly674SerVAR_004485rs63750234
10MSH2p.Cys697PheVAR_004486rs63750398
11MSH2p.Ala834ThrVAR_004488rs63750757
12MSH2p.Gly692ArgVAR_009250rs63750232
13MSH2p.Cys697ArgVAR_009251rs63750961
14MSH2p.Val161AspVAR_012936rs63750126
15MSH2p.Asp506TyrVAR_012941rs63750492
16MSH2p.Ala636ProVAR_012944rs63750875
17MSH2p.Met688IleVAR_012945rs63750790
18MSH2p.Lys845GluVAR_013172rs63750571
19MSH2p.Asn127SerVAR_019234rs17217772
20MSH2p.Val163GlyVAR_022670rs63750214
21MSH2p.Asp660GlyVAR_022671
22MSH2p.Thr33ProVAR_043738rs63751107
23MSH2p.Leu93PheVAR_043743rs63751429
24MSH2p.Val102IleVAR_043745rs193922373
25MSH2p.Lys110ThrVAR_043746
26MSH2p.Gly162ArgVAR_043747rs63750624
27MSH2p.Val163AspVAR_043748rs63750214
28MSH2p.Gly164ArgVAR_043749rs63750582
29MSH2p.Leu173ProVAR_043751rs63750070
30MSH2p.Leu175ProVAR_043752rs63751291
31MSH2p.Leu187ProVAR_043753rs63751444
32MSH2p.Asp283TyrVAR_043757rs63750381
33MSH2p.Cys333TyrVAR_043759rs63750828
34MSH2p.Pro336SerVAR_043761rs63751062
35MSH2p.Pro349LeuVAR_043763rs587779067
36MSH2p.Arg359SerVAR_043764rs63751617
37MSH2p.Lys393MetVAR_043765
38MSH2p.Met492ValVAR_043767
39MSH2p.Thr552ProVAR_043768rs63750838
40MSH2p.Asn583SerVAR_043770rs201118107
41MSH2p.Ala600ValVAR_043771rs63751236
42MSH2p.Asp603AsnVAR_043772rs63750657
43MSH2p.His639ArgVAR_043775rs587779116
44MSH2p.Glu647LysVAR_043776
45MSH2p.Tyr656HisVAR_043777
46MSH2p.Ile679ThrVAR_043779
47MSH2p.Ser723PheVAR_043781rs63750794
48MSH2p.Met729ValVAR_043782
49MSH2p.Thr732IleVAR_043783
50MSH2p.Glu749LysVAR_043785rs63751477
51MSH2p.Met813ValVAR_043786rs63749841
52MSH2p.His839ArgVAR_043788rs63750027
53MSH2p.Lys931ThrVAR_043795rs267608023
54MSH2p.Ala2ThrVAR_054511rs63750466
55MSH2p.Gly162AlaVAR_054512rs63750773
56MSH2p.Glu198GlyVAR_054513rs63750327
57MSH2p.Asn331AspVAR_054514rs267607938
58MSH2p.Val470GluVAR_054515rs267607959
59MSH2p.His610AsnVAR_054516rs267607980
60MSH2p.Arg638GlyVAR_054517rs267607981
61MSH2p.Gln645GluVAR_054518rs267607982
62MSH2p.Pro696LeuVAR_054519rs267607994
63MSH2p.Asp748TyrVAR_054520rs267608007
64MSH2p.His839GlnVAR_054521rs267608016
65MSH2p.Gly674ArgVAR_067288rs63750234
66MSH2p.Gly669ArgVAR_067761rs63751668
67MSH2p.Leu187ArgVAR_076352rs63751444
68MSH2p.Gly674AlaVAR_076353rs267607996
69MSH2p.Met688ValVAR_076354

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

5 (show all 1,320)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH2NM_000251.2(MSH2): c.932delA (p.Asn311Thrfs)deletionPathogenicrs587779979GRCh37Chr 2, 47641547: 47641547
2MSH6NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter)SNVPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
3MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
4PMS2NM_000535.6(PMS2): c.1376C> A (p.Ser459Ter)SNVPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
5PMS2NM_000535.6(PMS2): c.904-2A> GSNVLikely pathogenic, Pathogenicrs587781339GRCh38Chr 7, 5992059: 5992059
6MLH1NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
7PMS2NM_000535.6(PMS2): c.325delG (p.Glu109Lysfs)deletionPathogenicrs587781716GRCh37Chr 7, 6043349: 6043349
8PMS2NM_000535.6(PMS2): c.736_741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
9PMS2NM_000535.6(PMS2): c.2117delA (p.Lys706Serfs)deletionPathogenicrs587782704GRCh38Chr 7, 5982881: 5982881
10PMS2NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs)deletionPathogenicrs587782710GRCh38Chr 7, 5997376: 5997383
11MSH6NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs)deletionLikely pathogenic, Pathogenicrs587782712GRCh38Chr 2, 47801020: 47801024
12MLH1NM_000249.3(MLH1): c.117-2A> GSNVPathogenicrs267607712GRCh38Chr 3, 36996617: 36996617
13MSH2NM_000251.2(MSH2): c.2363_2364delCT (p.Thr788Serfs)deletionLikely pathogenicrs63750937GRCh38Chr 2, 47478424: 47478425
14MSH2NM_000251.2(MSH2): c.2304delA (p.Glu768Aspfs)deletionLikely pathogenicrs587783053GRCh38Chr 2, 47478365: 47478365
15MSH2NM_000251.2(MSH2): c.1271dupA (p.His424Glnfs)duplicationPathogenicrs587783055GRCh38Chr 2, 47429936: 47429936
16MSH6NM_000179.2(MSH6): c.1705_1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
17EPCAMNM_002354.2(EPCAM): c.556-14A> GSNVPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
18PMS2NM_000535.6(PMS2): c.1144+1G> ASNVLikely pathogenic, Pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
19MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)SNVPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
20MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
21MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)SNVPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
22MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)SNVPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
23MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
24MLH1MLH1, EX16DELdeletionPathogenicChr na, -1: -1
25MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)SNVPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
26MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)SNVPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
27MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)SNVPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
28MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)SNVPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
29MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenicChr na, -1: -1
30MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
31MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)SNVPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
32MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)SNVPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
33MSH2MSH2, DEL 50 CODONSdeletionPathogenicChr na, -1: -1
34MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)SNVPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
35MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)SNVPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
36MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
37MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)SNVPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
38MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)SNVLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
39MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
40MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
41MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)SNVPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
42MSH2MSH2, EX1-6 DELdeletionPathogenicChr na, -1: -1
43MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
44MSH2nsv513794deletionPathogenicChr na, -1: -1
45MSH2NG_007110.2: g.4247_24291del20045deletionPathogenicGRCh37Chr 2, 47629509: 47649553
46MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenicChr na, -1: -1
47MSH6NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter)SNVPathogenicrs730881816GRCh37Chr 2, 48026927: 48026927
48MSH6NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
49PMS2NM_000535.6(PMS2): c.2T> A (p.Met1Lys)SNVPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
50PMS2NM_000535.6(PMS2): c.765C> A (p.Tyr255Ter)SNVPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
51MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)SNVLikely pathogenic, Pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
52MSH6NM_000179.2(MSH6): c.578delT (p.Leu193Trpfs)deletionPathogenicrs587782281GRCh37Chr 2, 48023153: 48023153
53MSH6NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs)duplicationPathogenicrs786201050GRCh37Chr 2, 48027352: 48027352
54PMS2NM_000535.6(PMS2): c.251-2A> TSNVLikely pathogenic, Pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
55MSH6NM_000179.2(MSH6): c.3980_3983dupATCA (p.Leu1330Valfs)duplicationLikely pathogenic, Pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
56MSH6NM_000179.2(MSH6): c.989C> A (p.Ser330Ter)SNVPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
57PMS2NM_000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh38Chr 7, 5986891: 5986891
58MSH6NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
59EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenicChr na, -1: -1
60MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
61MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
62MSH2NM_000251.2(MSH2): c.491G> A (p.Gly164Glu)SNVPathogenicrs786204082GRCh38Chr 2, 47410218: 47410218
63PMS2NM_000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh37Chr 7, 6027211: 6027211
64MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
65MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)SNVPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
66MSH6NM_000179.2(MSH6): c.1108_1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
67MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
68MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh38Chr 3, 36993548: 36993663
69MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
70MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
71MSH2NM_000251.2(MSH2): c.1278_1386+1deldeletionPathogenicGRCh38Chr 2, 47445549: 47445658
72MSH2NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter)SNVPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
73MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
74MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)SNVPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
75MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
76MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
77MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh37Chr 2, 48030821: 48030821
78MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)SNVPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
79MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
80MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630330: 47643568
81MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
82MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
83PMS2NM_000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
84PMS2NM_000535.6(PMS2): c.1297A> T (p.Lys433Ter)SNVPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
85PMS2NM_000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
86PMS2NM_000535.6(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
87MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh37Chr 2, 48026732: 48026735
88MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
89MLH1NM_000249.3(MLH1): c.307-?_380+?deldeletionPathogenicChr na, -1: -1
90MSH6NM_000179.2(MSH6): c.3332_3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh38Chr 2, 47803579: 47803582
91MSH6NM_000179.2(MSH6): c.3528_3532delACTTG (p.Leu1177Cysfs)deletionLikely pathogenic, Pathogenicrs863225408GRCh37Chr 2, 48032138: 48032142
92MSH6NM_000179.2(MSH6): c.4028C> G (p.Ser1343Ter)SNVPathogenicrs863225420GRCh37Chr 2, 48033944: 48033944
93MLH1NM_000249.3(MLH1): c.1676T> C (p.Leu559Pro)SNVLikely pathogenicrs63750059GRCh37Chr 3, 37083767: 37083767
94MLH1NM_000249.3(MLH1): c.2263A> G (p.Arg755Gly)SNVPathogenicrs267607900GRCh38Chr 3, 37050645: 37050645
95PMS2NM_000535.5: c.(1144+1_1145-1)_(2174+1_2715-1)dupduplicationPathogenicChr na, -1: -1
96MSH6NM_000179.2(MSH6): c.3632T> C (p.Leu1211Pro)SNVPathogenicrs864622041GRCh37Chr 2, 48032832: 48032832
97MSH2NM_000251.2(MSH2): c.1963_1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh37Chr 2, 47702367: 47702368
98MSH6NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter)SNVPathogenicrs864622153GRCh37Chr 2, 48026813: 48026813
99MSH2NM_000251.2(MSH2): c.748G> T (p.Gly250Ter)SNVPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
100PMS2NM_000535.6(PMS2): c.121G> T (p.Glu41Ter)SNVPathogenicrs3209663GRCh38Chr 7, 6005934: 6005934
101MSH6NM_000179.2(MSH6): c.458-?_3172+?deldeletionPathogenicChr na, -1: -1
102MSH6NM_000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
103MSH2NM_000251.2(MSH2): c.819_821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
104PMS2NM_000535.6(PMS2): c.538-?_903+?deldeletionPathogenicChr na, -1: -1
105MSH2NM_000251.2(MSH2): c.842C> G (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
106MSH2NM_000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
107MLH1NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter)SNVPathogenicrs267607823GRCh38Chr 3, 37025844: 37025844
108EPCAMNM_002354.2(EPCAM): c.491+1G> TSNVPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
109MSH6NM_000179.2(MSH6): c.3526A> T (p.Arg1176Ter)SNVPathogenicrs786203968GRCh38Chr 2, 47804997: 47804997
110MSH6NM_000179.2(MSH6): c.1387G> T (p.Glu463Ter)SNVPathogenicrs864622435GRCh38Chr 2, 47799370: 47799370
111MSH2NM_000251.2(MSH2): c.1563T> A (p.Tyr521Ter)SNVPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
112MSH2NM_000251.2(MSH2): c.421_422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh37Chr 2, 47637287: 47637288
113MSH6NM_000179.2(MSH6): c.2308_2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh37Chr 2, 48027430: 48027434
114PMS2NM_000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh37Chr 7, 6026646: 6026646
115MLH1NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
116MSH2NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
117MSH6NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
118MSH6NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
119PMS2NM_000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh37Chr 7, 6026896: 6026896
120MSH2NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter)SNVPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
121PMS2NM_000535.6(PMS2): c.851C> G (p.Ser284Ter)SNVPathogenicrs587782898GRCh38Chr 7, 5995586: 5995586
122MSH6NM_000179.2(MSH6): c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
123PMS2NM_000535.6(PMS2): c.2445+1G> TSNVPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
124MSH6NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
125MSH6NM_000179.2(MSH6): c.1570_1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
126MSH6NM_000179.2(MSH6): c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh38Chr 2, 47800039: 47800043
127MSH6NM_000179.2(MSH6): c.2680C> T (p.Gln894Ter)SNVPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
128MSH6NM_000179.2(MSH6): c.2804_2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
129MSH6NM_000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
130MSH6NM_000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
131MSH6NM_000179.2(MSH6): c.3717_3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
132MSH6NM_000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
133MSH6NM_000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
134MLH1NM_000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
135MLH1NM_000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
136MLH1NM_000249.3(MLH1): c.2044_2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
137MLH1NM_000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
138MLH1NM_000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
139MLH1NM_000249.3(MLH1): c.961_962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
140MSH2NM_000251.2(MSH2): c.1404_1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
141MSH2NM_000251.2(MSH2): c.2150_2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh37Chr 2, 47703650: 47703653
142MSH2NM_000251.2(MSH2): c.340G> T (p.Glu114Ter)SNVPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
143MSH2NM_000251.2(MSH2): c.790C> T (p.Gln264Ter)SNVPathogenicrs878853824GRCh37Chr 2, 47639697: 47639697
144PMS2NM_000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
145PMS2NM_000535.6(PMS2): c.1591G> T (p.Glu531Ter)SNVPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
146PMS2NM_000535.6(PMS2): c.2276-?_*160+?deldeletionPathogenicChr na, -1: -1
147PMS2NM_000535.6(PMS2): c.947_948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh38Chr 7, 5992013: 5992014
148EPCAMNM_002354.2(EPCAM): c.133C> T (p.Gln45Ter)SNVPathogenicrs878854485GRCh37Chr 2, 47600658: 47600658
149EPCAMNM_002354.2(EPCAM): c.429G> A (p.Trp143Ter)SNVPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
150EPCAMNM_002354.2(EPCAM): c.523C> T (p.Gln175Ter)SNVPathogenicrs878854491GRCh37Chr 2, 47604184: 47604184
151MSH6NM_000179.2(MSH6): c.458-?_4001+?deldeletionPathogenicChr na, -1: -1
152MSH2NM_000251.2(MSH2): c.-125-?_645+?deldeletionPathogenicChr na, -1: -1
153PMS2NM_000535.6(PMS2): c.-87_537+?deldeletionPathogenicChr na, -1: -1
154MSH2NM_000251.2(MSH2): c.-125-?_1076+?deldeletionPathogenicChr na, -1: -1
155PMS2NM_000535.6(PMS2): c.164-?_2006+?deldeletionPathogenicChr na, -1: -1
156PMS2NC_000007.14: g.(?_5986753)_(6009025_?)deldeletionPathogenicGRCh38Chr 7, 5986753: 6009025
157MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenicGRCh37Chr 2, 47637233: 47637511
158MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenicGRCh37Chr 2, 47656881: 47657080
159PMS2NM_000535.6(PMS2): c.989-?_1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
160MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenicGRCh37Chr 2, 47690170: 47690293
161PMS2NM_000535.6(PMS2): c.2276-?_2445+?deldeletionPathogenicGRCh38Chr 7, 5977588: 5977757
162MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)SNVPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
163MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)SNVPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
164MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)SNVPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
165MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)SNVPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
166MLH1NM_000249.3(MLH1): c.454-1G> ASNVPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
167MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)SNVPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
168MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
169MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)SNVPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
170MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
171MSH2NM_000251.2(MSH2): c.942+3A> TSNVPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
172MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
173MSH6NM_000179.2(MSH6): c.3173-1G> CSNVLikely pathogenic, Pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
174MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)SNVPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
175MLH3NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe)SNVPathogenicrs28756990GRCh37Chr 14, 75514138: 75514138
176MSH6NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
177MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
178MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenicNCBI36Chr 2, 47852014: 47873687
179MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
180MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
181MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
182MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
183MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
184MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
185MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)SNVPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
186MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
187MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)SNVPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
188MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)SNVPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
189MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
190MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)SNVPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
191MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)SNVPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
192MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)SNVPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
193MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)SNVPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
194MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
195MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
196MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
197MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
198MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
199MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
200MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
201MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
202MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
203MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
204MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
205MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
206MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)SNVPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
207MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
208MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
209MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
210MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
211MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
212MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)SNVPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
213MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
214MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)SNVPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
215MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)SNVPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
216MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
217MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)SNVPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
218MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)SNVPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
219MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)SNVPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
220MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
221MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
222MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)SNVPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
223MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
224MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
225MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
226MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
227MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)SNVPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
228MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
229MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)SNVPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
230MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)SNVPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
231MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
232MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
233MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)SNVPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
234MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh38Chr 2, 47798634: 47798634
235MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
236MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)SNVPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
237MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
238MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
239MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)SNVPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
240MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
241MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)SNVPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
242MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)SNVPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
243MSH6NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
244MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)SNVPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
245MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)SNVPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
246MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
247MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
248MSH6NM_000179.2(MSH6): c.3172+1G> TSNVLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
249MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
250MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
251MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
252MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
253MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
254MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)SNVPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
255MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
256MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
257MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
258MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
259MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
260MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
261MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
262MSH6NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
263MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
264MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
265MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
266MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
267MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)SNVPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
268MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)SNVPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
269MSH6NM_000179.2(MSH6): c.3379_3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
270MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
271MSH6NM_000179.2(MSH6)insertionPathogenicChr na, -1: -1
272MSH6NM_000179.2(MSH6): c.3439-1G> TSNVLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
273MSH6NM_000179.2(MSH6): c.3439-2A> GSNVLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
274MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)SNVPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
275MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
276MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
277MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
278MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
279MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
280MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
281MSH6NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
282MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
283MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
284MSH6NM_000179.2(MSH6): c.3647-1G> ASNVPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
285MSH6NM_000179.2(MSH6): c.3647-2A> CSNVPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
286MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
287MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
288MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
289MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
290MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)SNVPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
291MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)SNVPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
292MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
293MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
294MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
295MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
296MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)SNVPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
297MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
298MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
299MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
300MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
301MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
302MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
303MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
304MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
305MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
306MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
307MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
308MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
309MSH6NM_000179.2 (MSH6): c.3984_3987dupGTCA (p.Leu1330Valfs)duplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
310MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
311MSH6NM_000179.2(MSH6): c.4001+2T> CSNVPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
312MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)SNVPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
313MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
314MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)SNVPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
315MSH6NM_000179.2(MSH6): c.457+2T> ASNVPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
316MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenicChr na, -1: -1
317MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)SNVPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
318MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
319MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)SNVPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
320MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
321MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
322MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)SNVPathogenicrs587779315GRCh37Chr 2, 48025774: 48025774
323MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)SNVPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
324MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)SNVPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
325MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
326MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)SNVPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
327MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)SNVPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
328MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
329MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)SNVPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
330MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)SNVPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
331MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
332MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)SNVPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
333MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
334MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)SNVPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
335MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
336MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
337MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
338MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
339MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
340MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
341MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
342MLH1NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
343MLH1NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
344MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenicChr na, -1: -1
345MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
346MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
347MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
348MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
349MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
350MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
351MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
352MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
353MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
354MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
355MLH1NM_000249.3(MLH1): c.1039-1G> ASNVPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
356MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
357MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
358MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
359MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenicChr na, -1: -1
360MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenicChr na, -1: -1
361MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
362MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)SNVPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
363MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
364MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
365MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
366MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
367MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
368MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)SNVPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
369MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh37Chr 3, 37067190: 37067190
370MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
371MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)SNVPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
372MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
373MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)SNVPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
374MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
375MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)SNVPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
376MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
377MLH1NM_000249.3(MLH1): c.116+5G> CSNVPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
378MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
379MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)SNVLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
380MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
381MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
382MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenicChr na, -1: -1
383MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenicChr na, -1: -1
384MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenicChr na, -1: -1
385MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)SNVPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
386MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
387MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)SNVPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
388MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
389MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
390MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
391MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
392MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
393MLH1NM_000249.3(MLH1): c.121G> C (p.Asp41His)SNVLikely pathogenicrs267607713GRCh37Chr 3, 37038114: 37038114
394MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)SNVPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
395MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)SNVPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
396MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
397MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
398MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)SNVPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
399MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
400MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
401MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
402MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
403MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
404MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
405MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
406MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
407MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
408MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
409MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
410MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
411MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
412MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
413MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
414MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
415MLH1NM_000249.3(MLH1): c.1409+1G> ASNVLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
416MLH1NM_000249.3(MLH1): c.1409+1G> CSNVPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
417MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
418MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenicChr na, -1: -1
419MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenicChr na, -1: -1
420MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
421MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
422MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
423MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
424MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
425MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
426MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
427MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)SNVPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
428MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
429MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)SNVPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
430MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)SNVPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
431MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
432MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
433MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)SNVPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
434MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
435MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
436MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
437MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
438MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
439MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
440MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)SNVPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
441MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)SNVPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
442MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
443MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
444MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)SNVPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
445MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
446MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
447MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
448MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
449MLH1NM_000249.3(MLH1): c.1558+1G> TSNVPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
450MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
451MLH1NM_000249.3(MLH1): c.1559-1G> TSNVPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
452MLH1NM_000249.3(MLH1): c.1559-2A> GSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
453MLH1NM_000249.3(MLH1): c.1559-2A> TSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
454MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
455MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenicChr na, -1: -1
456MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenicChr na, -1: -1
457MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
458MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
459MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
460MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
461MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
462MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)SNVPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
463MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
464MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
465MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
466MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)SNVPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
467MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)SNVPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
468MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)SNVPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
469MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
470MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
471MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
472MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
473MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)SNVPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
474MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
475MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)SNVPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
476MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)SNVPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
477MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
478MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
479MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)SNVPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
480MLH1NM_000249.3(MLH1): c.1668-1G> ASNVLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
481MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenicChr na, -1: -1
482MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenicChr na, -1: -1
483MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
484MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)SNVPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
485MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)SNVPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
486MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)SNVPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
487MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)SNVPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
488MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
489MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
490MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
491MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
492MLH1NM_000249.3(MLH1): c.1731+1G> ASNVPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
493MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
494MLH1NM_000249.3(MLH1): c.1731+5G> ASNVPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
495MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
496MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)SNVPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
497MLH1NM_000249.3(MLH1): c.1732-1G> ASNVPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
498MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
499MLH1NM_000249.3(MLH1): c.1732-2A> TSNVPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
500MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
501MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenicChr na, -1: -1
502MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenicChr na, -1: -1
503MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)SNVPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
504MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
505MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
506MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
507MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
508MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
509MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
510MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
511MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
512MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
513MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
514MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
515MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)SNVPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
516MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
517MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)SNVPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
518MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
519MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
520MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
521MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
522MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)SNVPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
523MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)SNVPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
524MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
525MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
526MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
527MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)SNVPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
528MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
529MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
530MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
531MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
532MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
533MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)SNVPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
534MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenicChr na, -1: -1
535MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)SNVPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
536MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
537MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
538MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh37Chr 3, 37090015: 37090015
539MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
540MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
541MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
542MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
543MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
544MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
545MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
546MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)SNVPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
547MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
548MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
549MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
550MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)SNVPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
551MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
552MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)SNVPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
553MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
554MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
555MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
556MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
557MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
558MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
559MLH1NM_000249.3(MLH1): c.1989+1G> ASNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
560MLH1NM_000249.3(MLH1): c.1989+1G> TSNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
561MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)SNVPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
562MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
563MLH1NM_000249.3(MLH1): c.1990-1G> ASNVPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
564MLH1NM_000249.3(MLH1): c.1990-2A> GSNVPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
565MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
566MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)SNVPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
567MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
568MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
569MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
570MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
571MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
572MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)SNVPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
573MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
574MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)SNVPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
575MLH1NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg)SNVLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
576MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)SNVPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
577MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)SNVPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
578MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
579MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
580MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
581MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
582MLH1NM_000249.3(MLH1): c.207+1G> ASNVLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
583MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
584MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenicChr na, -1: -1
585MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
586MLH1NM_000249.3(MLH1): c.208-1G> ASNVPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
587MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
588MLH1NM_000249.3(MLH1): c.208-2A> GSNVPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
589MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenicChr na, -1: -1
590MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenicChr na, -1: -1
591MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenicChr na, -1: -1
592MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenicChr na, -1: -1
593MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)SNVPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
594MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
595MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)SNVPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
596MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
597MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)SNVPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
598MLH1NM_000249.3(MLH1): c.2103+1G> ASNVPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
599MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)SNVPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
600MLH1NM_000249.3(MLH1): c.2104-2A> TSNVPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
601MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
602MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
603MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
604MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
605MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
606MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)SNVPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
607MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)SNVPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
608MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)SNVPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
609MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
610MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)SNVPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
611MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
612MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
613MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
614MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
615MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
616MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)SNVPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
617MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
618MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
619MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)SNVPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
620MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
621MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
622MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
623MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
624MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)SNVPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
625MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
626MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)SNVPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
627MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
628MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
629MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)SNVPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
630MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
631MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)SNVPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
632MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
633MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
634MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)SNVPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
635MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
636MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)SNVPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
637MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)SNVPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
638MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
639MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)SNVPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
640MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)SNVPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
641MLH1NM_000249.3(MLH1): c.306+1G> ASNVPathogenicrs267607734GRCh37Chr 3, 37042545: 37042545
642MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
643MLH1NM_000249.3(MLH1): c.306+5G> ASNVPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
644MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)SNVPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
645MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
646MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
647MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
648MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
649MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
650MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenicChr na, -1: -1
651MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
652MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)SNVPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
653MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
654MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
655MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
656MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
657MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)SNVPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
658MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
659MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)SNVPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
660MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
661MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)SNVPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
662MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
663MLH1NM_000249.3(MLH1): c.380+2T> ASNVPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
664MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
665MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenicChr na, -1: -1
666MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)SNVPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
667MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
668MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
669MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
670MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
671MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
672MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
673MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)SNVPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
674MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)SNVPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
675MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
676MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
677MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
678MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
679MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)SNVPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
680MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)SNVPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
681MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
682MLH1NM_000249.3(MLH1): c.453+2T> CSNVPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
683MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
684MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
685MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
686MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
687MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenicChr na, -1: -1
688MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)SNVPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
689MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
690MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
691MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)SNVPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
692MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
693MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
694MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
695MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
696MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
697MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
698MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
699MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
700MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)SNVPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
701MLH1NM_000249.3(MLH1): c.545+3A> GSNVPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
702MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)SNVPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
703MLH1NM_000249.3(MLH1): c.546-2A> CSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
704MLH1NM_000249.3(MLH1): c.546-2A> GSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
705MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
706MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenicChr na, -1: -1
707MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenicChr na, -1: -1
708MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenicChr na, -1: -1
709MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)SNVPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
710MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)SNVPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
711MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)SNVPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
712MLH1NM_000249.3(MLH1): c.588+1G> TSNVPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
713MLH1NM_000249.3(MLH1): c.588+5G> ASNVPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
714MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
715MLH1NM_000249.3(MLH1): c.589-2A> GSNVPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
716MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
717MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)SNVPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
718MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
719MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
720MLH1NM_000249.3(MLH1): c.62C> T (p.Ala21Val)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
721MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
722MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
723MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
724MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
725MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
726MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
727MLH1NM_000249.3(MLH1): c.677+1G> TSNVPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
728MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
729MLH1NM_000249.3(MLH1): c.677+3A> GSNVPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
730MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)SNVPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
731MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)SNVLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
732MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
733MLH1NM_000249.3(MLH1): c.678-1G> CSNVPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
734MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
735MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
736MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenicChr na, -1: -1
737MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenicChr na, -1: -1
738MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)SNVPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
739MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
740MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
741MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
742MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
743MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
744MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)SNVPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
745MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
746MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)SNVPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
747MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
748MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
749MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)SNVPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
750MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
751MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)SNVPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
752MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
753MLH1NM_000249.3(MLH1): c.790+1G> ASNVPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
754MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
755MLH1NM_000249.3(MLH1): c.790+2T> CSNVPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
756MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
757MLH1NM_000249.3(MLH1): c.791-1G> CSNVPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
758MLH1NM_000249.3(MLH1): c.791-2A> GSNVLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
759MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
760MLH1NM_000249.3(MLH1): c.791-5T> GSNVPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
761MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenicChr na, -1: -1
762MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenicChr na, -1: -1
763MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
764MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)SNVLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
765MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
766MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
767MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
768MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)SNVPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
769MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)SNVPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
770MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)SNVPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
771MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
772MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)SNVPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
773MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
774MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
775MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
776MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
777MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
778MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
779MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)SNVPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
780MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)SNVPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
781MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
782MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
783MLH1NM_000249.3(MLH1): c.884+4A> GSNVPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
784MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)SNVPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
785MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
786MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
787MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
788MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
789MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
790MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenicChr na, -1: -1
791MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenicChr na, -1: -1
792MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)SNVPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
793MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
794MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
795MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)SNVPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
796MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)SNVPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
797MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
798MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
799MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
800MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
801MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
802MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
803MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)SNVPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
804MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)SNVPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
805MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
806MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
807MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenicChr na, -1: -1
808MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
809MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
810MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
811MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
812MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
813MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
814MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
815MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
816MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
817MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
818MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
819MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenicChr na, -1: -1
820MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
821MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenicChr na, -1: -1
822MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenicChr na, -1: -1
823MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
824MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenicChr na, -1: -1
825MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
826MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
827MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)SNVPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
828MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
829MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)SNVPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
830MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)SNVPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
831MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
832MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
833MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)SNVPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
834MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)SNVPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
835MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
836MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)SNVPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
837MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
838MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)SNVPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
839MSH2NM_000251.2(MSH2): c.1076+1G> ASNVPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
840MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
841MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
842MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
843MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenicChr na, -1: -1
844MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenicChr na, -1: -1
845MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenicChr na, -1: -1
846MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenicChr na, -1: -1
847MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenicChr na, -1: -1
848MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)SNVPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
849MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
850MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
851MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
852MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
853MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
854MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
855MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)SNVPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
856MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
857MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)SNVPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
858MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
859MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
860MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)SNVPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
861MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)SNVPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
862MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)SNVPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
863MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
864MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
865MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
866MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
867MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
868MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)SNVPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
869MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
870MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)SNVPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
871MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
872MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
873MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
874MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
875MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
876MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
877MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
878MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)SNVPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
879MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)SNVPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
880MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
881MSH2NM_000251.2(MSH2): c.1276+1G> ASNVPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
882MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
883MSH2NM_000251.2(MSH2): c.1277-2A> GSNVPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
884MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
885MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
886MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
887MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenicChr na, -1: -1
888MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenicChr na, -1: -1
889MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenicChr na, -1: -1
890MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenicChr na, -1: -1
891MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)SNVPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
892MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
893MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)SNVPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
894MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)SNVPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
895MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)SNVPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
896MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
897MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
898MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)SNVPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
899MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
900MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
901MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)SNVPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
902MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
903MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
904MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)SNVPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
905MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)SNVPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
906MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
907MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)SNVPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
908MSH2NM_000251.2(MSH2): c.1386+1G> ASNVLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
909MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
910MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
911MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenicChr na, -1: -1
912MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenicChr na, -1: -1
913MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenicChr na, -1: -1
914MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenicChr na, -1: -1
915MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
916MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)SNVPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
917MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
918MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)SNVPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
919MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)SNVPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
920MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
921MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)SNVPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
922MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
923MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
924MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
925MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)SNVPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
926MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
927MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
928MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
929MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
930MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
931MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
932MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)SNVPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
933MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)SNVPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
934MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
935MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
936MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
937MSH2NM_000251.2(MSH2): c.1511-2A> GSNVPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
938MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenicChr na, -1: -1
939MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)SNVPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
940MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
941MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)SNVPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
942MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
943MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)SNVPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
944MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
945MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
946MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
947MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
948MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
949MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
950MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
951MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
952MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
953MSH2NM_000251.2(MSH2): c.1661+1G> ASNVLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
954MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)SNVPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
955MSH2NM_000251.2(MSH2): c.1662-1G> ASNVPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
956MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
957MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
958MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenicChr na, -1: -1
959MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenicChr na, -1: -1
960MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
961MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
962MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
963MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)SNVPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
964MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
965MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
966MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
967MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
968MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)SNVPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
969MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
970MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)SNVPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
971MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
972MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
973MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
974MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
975MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
976MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)SNVPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
977MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
978MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)SNVPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
979MSH2NM_000251.2(MSH2): c.1759+2T> ASNVPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
980MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
981MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)SNVPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
982MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
983MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
984MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenicChr na, -1: -1
985MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenicChr na, -1: -1
986MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
987MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)SNVPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
988MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
989MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)SNVPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
990MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
991MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
992MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
993MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
994MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
995MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)SNVPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
996MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
997MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)SNVPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
998MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
999MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)SNVPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
1000MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
1001MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)SNVPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
1002MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
1003MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
1004MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
1005MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)SNVPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
1006MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
1007MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
1008MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
1009MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
1010MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
1011MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)SNVPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
1012MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1013MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1014MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1015MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1016MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1017MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1018MSH2NM_000251.2(MSH2): c.2005+1G> ASNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1019MSH2NM_000251.2(MSH2): c.2005+1G> TSNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1020MSH2NM_000251.2(MSH2): c.2005+2T> CSNVPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1021MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenicChr na, -1: -1
1022MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)SNVPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1023MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1024MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1025MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1026MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1027MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1028MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)SNVPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1029MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1030MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1031MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)SNVPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1032MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1033MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1034MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)SNVPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1035MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)SNVPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1036MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)SNVPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1037MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)SNVPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1038MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)SNVPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1039MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1040MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1041MSH2NM_000251.2(MSH2): c.212-1G> ASNVPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1042MSH2NM_000251.2(MSH2): c.212-478T> GSNVPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1043MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenicChr na, -1: -1
1044MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenicChr na, -1: -1
1045MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenicChr na, -1: -1
1046MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenicChr na, -1: -1
1047MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenicChr na, -1: -1
1048MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenicChr na, -1: -1
1049MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenicChr na, -1: -1
1050MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)SNVPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1051MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1052MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1053MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)SNVPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1054MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1055MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1056MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)SNVPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1057MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1058MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1059MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1060MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenicChr na, -1: -1
1061MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1062MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1063MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1064MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)SNVPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1065MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1066MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1067MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1068MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)SNVPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1069MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1070MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)SNVPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1071MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)SNVPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1072MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1073MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)SNVPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1074MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)SNVPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1075MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1076MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1077MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1078MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1079MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)SNVPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1080MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1081MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1082MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1083MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1084MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1085MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1086MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1087MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1088MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)SNVPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1089MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1090MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)SNVPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1091MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1092MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)SNVPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1093MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)SNVPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1094MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1095MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenicChr na, -1: -1
1096MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1097MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)SNVPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1098MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1099MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1100MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1101MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1102MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1103MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1104MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1105MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)SNVPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1106MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1107MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1108MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1109MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)SNVPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1110MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)SNVPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1111MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)SNVPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1112MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1113MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1114MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)SNVPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1115MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1116MSH2NM_000251.2(MSH2): c.2634+5G> CSNVPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1117MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)SNVPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1118MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47709918: 47710360
1119MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)SNVPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1120MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1121MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1122MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1123MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)SNVPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1124MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1125MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)SNVPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1126MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)SNVPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1127MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1128MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)SNVPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1129MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)SNVPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1130MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1131MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)SNVPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1132MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1133MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1134MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1135MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1136MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)SNVPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1137MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1138MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1139MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1140MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1141MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenicChr na, -1: -1
1142MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenicChr na, -1: -1
1143MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenicChr na, -1: -1
1144MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenicChr na, -1: -1
1145MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenicChr na, -1: -1
1146MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenicChr na, -1: -1
1147MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1148MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1149MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1150MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1151MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1152MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1153MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1154MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)SNVPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1155MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)SNVPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1156MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)SNVPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1157MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)SNVPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1158MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)SNVPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1159MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)SNVPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1160MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1161MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)SNVPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1162MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1163MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1164MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1165MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1166MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)SNVPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1167MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1168MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)SNVPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1169MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1170MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1171MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1172MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1173MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)SNVPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1174MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1175MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1176MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)SNVPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1177MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)SNVPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1178MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)SNVPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1179MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1180MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1181MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1182MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)SNVPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1183MSH2NM_000251.2(MSH2): c.645+1G> ASNVPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1184MSH2NM_000251.2(MSH2): c.645+1G> TSNVLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1185MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1186MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1187MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1188MSH2NM_000251.2(MSH2): c.646-3T> GSNVPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1189MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1190MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenicChr na, -1: -1
1191MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenicChr na, -1: -1
1192MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenicChr na, -1: -1
1193MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenicChr na, -1: -1
1194MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenicChr na, -1: -1
1195MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1196MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)SNVPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1197MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1198MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)SNVPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1199MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1200MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1201MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1202MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1203MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1204MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1205MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1206MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)SNVPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1207MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1208MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1209MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1210MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1211MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)SNVPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1212MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1213MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1214MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)SNVPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1215MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1216MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1217MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1218MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1219MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1220MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1221MSH2NM_000251.2(MSH2): c.792+1G> ASNVPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1222MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1223MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1224MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenicChr na, -1: -1
1225MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenicChr na, -1: -1
1226MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenicChr na, -1: -1
1227MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenicChr na, -1: -1
1228MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1229MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1230MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1231MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)SNVPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1232MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1233MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1234MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1235MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1236MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1237MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)SNVPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1238MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)SNVPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1239MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1240MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)SNVPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1241MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1242MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1243MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1244MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)SNVPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1245MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1246MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)SNVPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1247MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)SNVPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1248MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1249MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)SNVPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1250MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)SNVPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1251MSH2NM_000251.2(MSH2): c.943-1G> CSNVLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1252MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1253MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenicChr na, -1: -1
1254MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1255MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1256MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)SNVPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1257MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh37Chr 2, 47643462: 47643463
1258MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1259MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenicChr na, -1: -1
1260MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1261PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenicChr na, -1: -1
1262PMS2NM_000535.6(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1263PMS2NM_000535.6(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1264PMS2NM_000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1265PMS2NM_000535.6(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1266PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenicChr na, -1: -1
1267PMS2NM_000535.6(PMS2): c.1145-?_2174+?deldeletionPathogenicChr na, -1: -1
1268PMS2NM_000535.6(PMS2): c.1145-?_2445+?deldeletionPathogenicChr na, -1: -1
1269PMS2NM_000535.6(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1270PMS2NM_000535.6(PMS2): c.1261C> T (p.Arg421Ter)SNVPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1271PMS2NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1272PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1273PMS2NM_000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1274PMS2NM_000535.6(PMS2): c.1738A> T (p.Lys580Ter)SNVPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1275PMS2NM_000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1276PMS2NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1277PMS2NM_000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1278PMS2NM_000535.6(PMS2): c.1840A> T (p.Lys614Ter)SNVPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1279PMS2NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter)SNVPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1280PMS2NM_000535.6(PMS2): c.1939A> T (p.Lys647Ter)SNVPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1281PMS2NM_000535.6(PMS2): c.2174+1G> ASNVPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1282PMS2NM_000535.6(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1283PMS2NM_000535.6(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1284PMS2NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1285PMS2NM_000535.6(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1286PMS2NM_000535.6(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1287PMS2NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1288PMS2NM_000535.6(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1289PMS2NM_000535.6(PMS2): c.24-?_163+?deldeletionPathogenicChr na, -1: -1
1290PMS2NM_000535.6(PMS2): c.354-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1291PMS2NM_000535.6(PMS2): c.354-?_803+?deldeletionPathogenicChr na, -1: -1
1292PMS2NM_000535.6(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1293PMS2NM_000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1294PMS2NM_000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1295PMS2NM_000535.6(PMS2): c.697C> T (p.Gln233Ter)SNVPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1296PMS2NM_000535.6(PMS2): c.703C> T (p.Gln235Ter)SNVPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1297PMS2NM_000535.6(PMS2): c.706-?_803+?deldeletionPathogenicChr na, -1: -1
1298PMS2NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1299PMS2NM_000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1300PMS2NM_000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1301PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenicChr na, -1: -1
1302PMS2NM_000535.6(PMS2): c.804-?_2006+?deldeletionPathogenicChr na, -1: -1
1303PMS2NM_000535.6(PMS2): c.804-?_903+?deldeletionPathogenicChr na, -1: -1
1304PMS2NM_000535.6(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1305PMS2NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1306PMS2NM_000535.6(PMS2): c.904-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1307PMS2NM_000535.6(PMS2): c.904-?_1144+?deldeletionPathogenicChr na, -1: -1
1308PMS2NM_000535.6(PMS2): c.904-?_988+?deldeletionPathogenicChr na, -1: -1
1309PMS2NM_000535.6(PMS2): c.943C> T (p.Arg315Ter)SNVPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1310PMS2NM_000535.6(PMS2): c.949C> T (p.Gln317Ter)SNVPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1311PMS2NM_000535.6(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1312PMS2NM_000535.6(PMS2): c.989-2A> GSNVLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1313PMS2NM_000535.6(PMS2): c.989-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1314PMS2NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)SNVPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1315PMS2NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1316PMS2NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter)SNVPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1317PMS2NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh38Chr 7, 5989923: 5989923
1318PMS2NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter)SNVPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1319PMS2NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)SNVLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1320MSH6NM_000179.2(MSH6): c.3516_3517delAG (p.Arg1172Serfs)deletionPathogenicrs398123232GRCh37Chr 2, 48032126: 48032127

Cosmic variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM550KRASurinary tract,NS,carcinoma,undifferentiated carcinomac.181C>Gp.Q61E3

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 1.

Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7MLH1, MSH2
2
Show member pathways
9.7MLH1, MSH2
3
Show member pathways
9.3MLH1, MSH2, MSH6
49.3MLH1, MSH2, MSH6
59.3MLH1, MSH2, PMS2
68.9MLH1, MSH2, MSH6, PMS2
78.8BRCA2, MLH1, MSH2, MSH6
8
Show member pathways
8.8BRCA1, BRCA2, MSH6
98.5BRCA1, MLH1, MSH2, MSH6
10
Show member pathways
8.4BRCA1, MLH1, MSH2, PMS2
11
Show member pathways
8.4BRCA1, BRCA2, MSH2, MSH6
128.4BRCA1, BRCA2, MSH2, MSH6
13
Show member pathways
8.4BRCA1, BRCA2, MSH2, MSH6
14
Show member pathways
8.3MLH1, MLH3, MSH2, MSH6, PMS2
15
Show member pathways
8.3BRCA1, BRCA2, MLH1, PMS2
16
Show member pathways
8.1BRCA1, BRCA2, MLH1, MLH3
17
Show member pathways
8.0BRCA1, BRCA2, MLH1, MSH2, MSH6
18
Show member pathways
7.5BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2

GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:003230110.5MSH2, MSH6
2MutLalpha complexGO:003238910.4MLH1, PMS2
3chiasmaGO:000571210.2MLH1, MLH3
4male germ cell nucleusGO:000167310.2MLH1, MLH3
5condensed chromosomeGO:000079310.0BRCA1, MLH1
6synaptonemal complexGO:00007959.4MLH1, MLH3
7condensed nuclear chromosomeGO:00007949.3BRCA1, MLH1, MLH3
8nucleoplasmGO:00056547.9BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1determination of adult lifespanGO:000834010.4MSH2, MSH6
2maintenance of DNA repeat elementsGO:004357010.3MSH2, MSH6
3meiotic mismatch repairGO:000071010.3MSH2, MSH6
4negative regulation of DNA recombinationGO:004591010.3MSH2, MSH6
5positive regulation of helicase activityGO:005109610.3MSH2, MSH6
6intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.2BRCA2, MSH2
7response to X-rayGO:001016510.1BRCA2, MSH2
8somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.1MLH1, MSH2
9male meiosisGO:000714010.0MLH1, MLH3
10DNA repairGO:00062819.9MLH1, MSH2, MSH6
11isotype switchingGO:00451909.9MLH1, MSH2, MSH6
12postreplication repairGO:00063019.8BRCA1, MSH2
13chordate embryonic developmentGO:00430099.8BRCA1, BRCA2
14chromosome breakageGO:00310529.8BRCA1, BRCA2
15DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.8BRCA1, BRCA2
16double-strand break repair via nonhomologous end joiningGO:00063039.8BRCA1, MLH1
17DNA synthesis involved in DNA repairGO:00007319.8BRCA1, BRCA2
18somatic recombination of immunoglobulin gene segmentsGO:00164479.7MLH1, MSH2, MSH6
19double-strand break repairGO:00063029.4BRCA1, BRCA2, MSH2
20somatic hypermutation of immunoglobulin genesGO:00164469.3MLH1, MSH2, MSH6, PMS2
21reciprocal meiotic recombinationGO:00071319.2MLH1, MLH3, MSH2, MSH6
22strand displacementGO:00007329.1BRCA1, BRCA2
23mismatch repairGO:00062988.8MLH1, MLH3, MSH2, MSH6, PMS2
24intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.6BRCA1, BRCA2, MLH1, MSH2, MSH6
25cellular response to DNA damage stimulusGO:00069748.4BRCA1, BRCA2, MLH1, MLH3, MSH2

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1ADP bindingGO:004353110.5MSH2, MSH6
2four-way junction DNA bindingGO:000040010.3MSH2, MSH6
3MutLalpha complex bindingGO:003240510.3MSH2, MSH6
4oxidized purine DNA bindingGO:003235710.3MSH2, MSH6
5single guanine insertion bindingGO:003214210.3MSH2, MSH6
6single thymine insertion bindingGO:003214310.3MSH2, MSH6
7centromeric DNA bindingGO:001923710.2MLH3, MSH2
8MutSalpha complex bindingGO:003240710.1MLH1, PMS2
9guanine/thymine mispair bindingGO:00321379.8MLH1, MSH2, MSH6
10mismatched DNA bindingGO:00309839.7MLH3, MSH2, MSH6
11damaged DNA bindingGO:00036849.5BRCA1, MSH2, MSH6
12ATP bindingGO:00055249.0MLH1, MLH3, MSH2, MSH6, PMS2
13ATPase activityGO:00168878.9MLH1, MLH3, MSH2, MSH6, PMS2
14chromatin bindingGO:00036828.8BRCA1, MLH1, MLH3, MSH6
15single-stranded DNA bindingGO:00036978.1BRCA2, MLH1, MLH3, MSH2, PMS2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet