HNPCC1
MCID: CLR070
MIFTS: 55

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (HNPCC1) 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 uterus, and related mouse phenotypes are Decreased viability with cisplatin and Decreased viability.

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 74)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer27.9BRCA1, BRCA2, EPCAM, MLH1, MLH3, MSH2
2lynch syndrome11.2
3gastric cancer, somatic10.9
4skin melanoma10.2MLH1, MSH2
5aorta atresia10.2MLH1, MSH2
6fibrolamellar carcinoma10.2MLH1, MSH2
7familial hypopituitarism10.2MLH1, MSH2
8neurocutaneous melanosis, somatic10.2MLH1, MSH2
9autoimmune autonomic ganglionopathy10.2MSH2, MSH6
10trypanosomiasis10.2MLH1, MSH6
11collecting duct carcinoma10.2MLH1, MSH2
12cardiomyopathy, dilated, 1r10.2MSH2, MSH6
13cask-related disorders10.2MSH6, PMS2
14malignant spindle cell melanoma10.1MLH1, MSH2
15uterine corpus endometrial stromal sarcoma10.1BRCA1, MLH1
16benign fibrous mesothelioma10.1MLH1, MSH2, MSH6
17churg-strauss syndrome10.1MLH1, MSH2, MSH6
18neuroretinitis10.1MLH1, MSH2, MSH6
19skin papilloma10.1MLH1, MSH2, MSH6
20asperger syndrome10.1MLH1, MSH2, MSH6
21ideomotor apraxia10.0MLH1, MSH2
22aorto-ventricular tunnel10.0BRCA1, BRCA2
23burn scar10.0BRCA1, BRCA2
24kunjin encephalitis10.0BRCA1, BRCA2
25lethal congenital contracture syndrome 710.0BRCA1, BRCA2
26autoimmune disease of cardiovascular system10.0BRCA1, BRCA2
27heart malignant hemangiopericytoma10.0BRCA1, BRCA2
28bronchogenic cyst10.0BRCA1, BRCA2
29lung clear cell-sugar-tumor10.0BRCA1, BRCA2
30bronchiectasis oligospermia10.0BRCA1, BRCA2
31pancreatic invasive mucinous cystadenocarcinoma10.0BRCA2, PMS2
32chronic endophthalmitis10.0BRCA1, BRCA2
33breast pericanalicular fibroadenoma9.9BRCA1, BRCA2
34eccrine sweat gland neoplasm9.9BRCA1, BRCA2
35villoglandular endometrial endometrioid adenocarcinoma9.9BRCA1, BRCA2
36paraphimosis9.9BRCA1, BRCA2
37frontal sinusitis9.9BRCA1, BRCA2
38bladder colloid adenocarcinoma9.9BRCA1, BRCA2
39syndromic x-linked intellectual disability 149.9BRCA1, BRCA2
40polyembryoma of the ovary9.9BRCA1, BRCA2
41nemaline myopathy 8, autosomal recessive9.9BRCA1, BRCA2
42mediastinum synovial sarcoma9.9BRCA1, BRCA2
43fallopian tube carcinosarcoma9.9BRCA1, BRCA2
44large intestine adenoma9.9MLH1, MSH2, MSH6, PMS2
45cauda equina neoplasm9.9MLH1, MSH2, MSH6, PMS2
46neurofibromatosis-noonan syndrome9.9MLH1, MSH2, MSH6, PMS2
47mismatch repair cancer syndrome9.9MLH1, MSH2, MSH6, PMS2
48fibromatosis, gingival, 19.9MLH1, MSH2, MSH6, PMS2
49hnrnpa1-related amyotrophic lateral sclerosis9.9MLH1, MSH2, MSH6, PMS2
50wolffian duct adenoma9.9MLH1, 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

About this section

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-49.9BRCA1, BRCA2
2GR00381-A-19.8BRCA1, MLH3, MSH2
3GR00101-A-19.7BRCA1, BRCA2
4GR00362-A8.6MLH1, MLH3, MSH6, PMS2
5GR00250-A-37.6BRCA1, 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:00107718.7BRCA1, BRCA2, MLH1, MSH2, MSH6
2MP:00053818.2BRCA1, BRCA2, EPCAM, MLH1, MSH2, PMS2
3MP:00053798.0BRCA1, BRCA2, EPCAM, MLH1, MLH3, PMS2
4MP:00020068.0BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2
5MP:00053847.8BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6
6MP:00053767.7BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6
7MP:00107687.7BRCA1, 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 45)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevoleucovorinapprovedPhase 372868538-85-2
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-5-formyltetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
 
(S)-Leucovorin
Citrovorum factor
L-Folinic acid
Levofolene
Levofolinic acid
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
2
FluorouracilapprovedPhase 3185651-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
3
Oxaliplatinapproved, investigationalPhase 3146061825-94-35310940, 9887054, 6857599, 9887054, 43805
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
4
Bevacizumabapproved, investigationalPhase 32020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
5
Aspirinapproved, vet_approvedPhase 3115250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalicylsäure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide acetylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
Entericin
Enterophen
 
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
acide 2-(acétyloxy)benzoïque
acide acétylsalicylique
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
salicylic acid acetate
ácido acetilsalicílico
6
leucovorinapproved, NutraceuticalPhase 3323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
7
Folic Acidapproved, nutraceutical, vet_approvedPhase 3439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
8ImmunoglobulinsPhase 3, Phase 26394
9VitaminsPhase 35282
10Immunosuppressive AgentsPhase 313086
11MicronutrientsPhase 36001
12Protective AgentsPhase 37443
13Vitamin B ComplexPhase 34337
14Immunoglobulin GPhase 3275
15Angiogenesis InhibitorsPhase 34257
16Trace ElementsPhase 36001
17MitogensPhase 31617
18Antibodies, MonoclonalPhase 3, Phase 24039
19AntidotesPhase 31071
20AntibodiesPhase 3, Phase 26394
21HematinicsPhase 31684
22Angiogenesis Modulating AgentsPhase 34185
23Antimetabolites, AntineoplasticPhase 37361
24AntimetabolitesPhase 312054
25Endothelial Growth FactorsPhase 3382
26Calcium, DietaryPhase 35713
27Bone Density Conservation AgentsPhase 33376
28Cyclooxygenase InhibitorsPhase 32870
29Acetylsalicylic acid lysinatePhase 312
30Platelet Aggregation InhibitorsPhase 32516
31Peripheral Nervous System AgentsPhase 323689
32Antirheumatic AgentsPhase 310956
33Fibrinolytic AgentsPhase 32388
34Analgesics, Non-NarcoticPhase 36501
35AnalgesicsPhase 311733
36Anti-Inflammatory AgentsPhase 310729
37Anti-Inflammatory Agents, Non-SteroidalPhase 34443
38AntipyreticsPhase 31605
39ColaNutraceuticalPhase 31946
40FolateNutraceuticalPhase 34392
41Vitamin B9NutraceuticalPhase 34392
42
nivolumabapprovedPhase 2424946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
43
Pembrolizumabapproved5071374853-91-4
Synonyms:
Keytruda
 
MK-3475
lambrolizumab
44
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
45pancreatin970

Interventional clinical trials:

(show all 13)
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
8Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
9Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
10Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain TumorsRecruitingNCT02359565
11Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
12Integrated Cancer Repository for Cancer ResearchRecruitingNCT02012699
13Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632

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, Uterus, Ovary, Breast, Small intestine

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 1,426)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH6NM_ 000179.2(MSH6): c.468_ 471delAAAG (p.Glu158Profs)deletionPathogenicrs587779941GRCh37Chr 2, 48023043: 48023046
2MSH2NM_ 000251.2(MSH2): c.932delA (p.Asn311Thrfs)deletionPathogenicrs587779979GRCh37Chr 2, 47641547: 47641547
3PMS2NM_ 000535.6(PMS2): c.2T> C (p.Met1Thr)SNVPathogenic/ Likely pathogenicrs587780059GRCh37Chr 7, 6048649: 6048649
4MSH6NM_ 000179.2(MSH6): c.1367G> A (p.Trp456Ter)SNVPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
5MSH6NM_ 000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
6PMS2NM_ 000535.6(PMS2): c.1376C> A (p.Ser459Ter)SNVPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
7PMS2NM_ 000535.6(PMS2): c.904-2A> GSNVPathogenic/ Likely pathogenicrs587781339GRCh37Chr 7, 6031690: 6031690
8MLH1NM_ 000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
9PMS2NM_ 000535.6(PMS2): c.2500_ 2501delATinsG (p.Met834Glyfs)indelPathogenicrs587781626GRCh38Chr 7, 5973487: 5973488
10MSH6NM_ 000179.2(MSH6): c.742delC (p.Arg248Glufs)deletionPathogenicrs587781691GRCh37Chr 2, 48025864: 48025864
11PMS2NM_ 000535.6(PMS2): c.325delG (p.Glu109Lysfs)deletionPathogenicrs587781716GRCh37Chr 7, 6043349: 6043349
12PMS2NM_ 000535.6(PMS2): c.736_ 741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
13PMS2NM_ 000535.6(PMS2): c.88C> T (p.Gln30Ter)SNVPathogenicrs141577476GRCh37Chr 7, 6045598: 6045598
14PMS2NM_ 000535.6(PMS2): c.2117delA (p.Lys706Serfs)deletionPathogenicrs587782704GRCh37Chr 7, 6022512: 6022512
15PMS2NM_ 000535.6(PMS2): c.746_ 753delACTCCGTG (p.Asp249Valfs)deletionPathogenicrs587782710GRCh37Chr 7, 6037007: 6037014
16MSH6NM_ 000179.2(MSH6): c.3037_ 3041delAAGAA (p.Lys1013Valfs)deletionPathogenic/ Likely pathogenicrs587782712GRCh37Chr 2, 48028159: 48028163
17MLH1NM_ 000249.3(MLH1): c.117-2A> GSNVPathogenicrs267607712GRCh37Chr 3, 37038108: 37038108
18MSH2NM_ 000251.2(MSH2): c.2363_ 2364delCT (p.Thr788Serfs)deletionLikely pathogenicrs63750937GRCh38Chr 2, 47478424: 47478425
19MSH2NM_ 000251.2(MSH2): c.2304delA (p.Glu768Aspfs)deletionLikely pathogenicrs587783053GRCh38Chr 2, 47478365: 47478365
20MSH2NM_ 000251.2(MSH2): c.1271dupA (p.His424Glnfs)duplicationPathogenicrs587783055GRCh38Chr 2, 47429936: 47429936
21MSH6NM_ 000179.2(MSH6): c.1705_ 1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
22EPCAMNM_ 002354.2(EPCAM): c.556-14A> GSNVPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
23PMS2NM_ 000535.6(PMS2): c.1144+1G> ASNVPathogenic/ Likely pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
24MLH1NM_ 000249.3(MLH1): c.131C> T (p.Ser44Phe)SNVPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
25MLH1NM_ 000249.3(MLH1): c.1852_ 1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
26MLH1NM_ 000249.3(MLH1): c.986A> C (p.His329Pro)SNVPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
27MLH1NM_ 000249.3(MLH1): c.676C> T (p.Arg226Ter)SNVPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
28MLH1NM_ 000249.3(MLH1): c.199G> T (p.Gly67Trp)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
29MLH1NM_ 000249.3(MLH1): c.350C> T (p.Thr117Met)SNVPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
30MLH1NM_ 000249.3(MLH1): c.1942C> T (p.Pro648Ser)SNVPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
31MLH1NM_ 000249.3(MLH1): c.806C> G (p.Ser269Ter)SNVPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
32MLH1NM_ 000249.3(MLH1): c.2041G> A (p.Ala681Thr)SNVPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
33MLH1NM_ 000249.3(MLH1): c.104_ 105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
34MLH1NM_ 000249.3(MLH1): c.200G> A (p.Gly67Glu)SNVPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
35MSH2NM_ 000251.2(MSH2): c.1865C> T (p.Pro622Leu)SNVPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
36MSH2MSH2, DEL 50 CODONSdeletionPathogenic
37MSH2NM_ 000251.2(MSH2): c.1216C> T (p.Arg406Ter)SNVPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
38MSH2NM_ 000251.2(MSH2): c.1915C> T (p.His639Tyr)SNVPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
39MSH2NM_ 000251.2(MSH2): c.1786_ 1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
40MSH2NM_ 000251.2(MSH2): c.1801C> T (p.Gln601Ter)SNVPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
41MSH2NM_ 000251.2(MSH2): c.1571G> C (p.Arg524Pro)SNVLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
42MSH2NM_ 000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
43MSH2NM_ 000251.2(MSH2): c.269_ 290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
44MSH2NM_ 000251.2(MSH2): c.1906G> C (p.Ala636Pro)SNVPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
45MSH2NM_ 000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
46MSH2nsv513794deletionPathogenic
47MSH2NG_ 007110.2: g.4247_ 24291del20045deletionPathogenicGRCh37Chr 2, 47629509: 47649553
48MSH6NM_ 000179.2(MSH6): c.1805C> G (p.Ser602Ter)SNVPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
49MSH6NM_ 000179.2(MSH6): c.1842delC (p.Cys615Valfs)deletionPathogenicrs730881825GRCh38Chr 2, 47799825: 47799825
50MSH6NM_ 000179.2(MSH6): c.2832_ 2833delAA (p.Ile944Metfs)deletionPathogenicrs730881827GRCh38Chr 2, 47800815: 47800816
51MSH6NM_ 000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
52PMS2NM_ 000535.6(PMS2): c.2T> A (p.Met1Lys)SNVPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
53PMS2NM_ 000535.6(PMS2): c.765C> A (p.Tyr255Ter)SNVPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
54MSH6NM_ 000179.2(MSH6): c.10C> T (p.Gln4Ter)SNVPathogenic/ Likely pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
55MSH6NM_ 000179.2(MSH6): c.578delT (p.Leu193Trpfs)deletionPathogenicrs587782281GRCh37Chr 2, 48023153: 48023153
56PMS2NM_ 000535.6(PMS2): c.251-2A> TSNVPathogenic/ Likely pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
57MSH6NM_ 000179.2(MSH6): c.3980_ 3983dupATCA (p.Leu1330Valfs)duplicationPathogenic/ Likely pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
58MSH6NM_ 000179.2(MSH6): c.989C> A (p.Ser330Ter)SNVPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
59PMS2NM_ 000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh37Chr 7, 6026522: 6026522
60MSH6NM_ 000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
61EPCAMNM_ 002354.2(EPCAM): c.859-?_ *415deldeletionPathogenicGRCh37Chr 2, 47612305: 47614167
62MSH6NM_ 000179.2(MSH6): c.2144_ 2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
63MSH2NM_ 000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh38Chr 2, 47478342: 47478342
64PMS2NM_ 000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh38Chr 7, 5987580: 5987580
65MSH2NM_ 000251.2(MSH2): c.782_ 783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
66MSH2NM_ 000251.2(MSH2): c.1442T> A (p.Leu481Ter)SNVPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
67MSH6NM_ 000179.2(MSH6): c.1108_ 1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
68MSH2NM_ 000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh38Chr 2, 47408450: 47408450
69MLH1NM_ 000249.3(MLH1): c.1_ 116del116 (p.Met1Phefs)deletionPathogenicGRCh38Chr 3, 36993548: 36993663
70MLH1NM_ 000249.3(MLH1): c.208_ 545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
71MLH1NM_ 000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
72MSH2NM_ 000251.2(MSH2): c.1278_ 1386+1del110deletionPathogenicGRCh38Chr 2, 47445549: 47445658
73MSH2NM_ 000251.2(MSH2): c.1984C> T (p.Gln662Ter)SNVPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
74MSH6NM_ 000179.2(MSH6): c.(?_ -1)_ 457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
75MSH6NM_ 000179.2(MSH6): c.1045C> T (p.Gln349Ter)SNVPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
76MSH6NM_ 000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
77MSH6NM_ 000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
78MSH6NM_ 000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh38Chr 2, 47803682: 47803682
79MLH1NM_ 000249.3(MLH1): c.1912G> T (p.Gly638Ter)SNVPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
80MLH1NM_ 000249.3(MLH1): c.704_ 723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
81MSH2NM_ 000251.2(MSH2): c.(?_ -1)_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630330: 47643568
82MSH2NM_ 000251.2(MSH2): c.141_ 154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
83MSH2NM_ 000251.2(MSH2): c.1662-?_ *(1_ ?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
84PMS2NM_ 000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
85PMS2NM_ 000535.6(PMS2): c.1297A> T (p.Lys433Ter)SNVPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
86PMS2NM_ 000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
87PMS2NM_ 000535.6(PMS2): c.1638_ 1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
88PMS2NM_ 000535.6(PMS2): c.989-?_ 1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
89MSH6NM_ 000179.2(MSH6): c.1610_ 1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh37Chr 2, 48026732: 48026735
90MSH2NM_ 000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
91MLH1NM_ 000249.3(MLH1): c.1790_ 1791delGGinsATCTGGACC (p.Trp597Tyrfs)indelPathogenicrs863225378GRCh38Chr 3, 37047577: 37047578
92MLH1NM_ 000249.3(MLH1): c.307-?_ 380+?deldeletionPathogenicGRCh37Chr 3, 37045892: 37045965
93MSH2NM_ 000251.2(MSH2): c.1276+2T> CSNVPathogenic/ Likely pathogenicrs267607953GRCh37Chr 2, 47657082: 47657082
94MSH6NM_ 000179.2(MSH6): c.1168_ 1170delGATinsAA (p.Asp390Asnfs)indelPathogenic/ Likely pathogenicrs863225398GRCh37Chr 2, 48026290: 48026292
95MSH6NM_ 000179.2(MSH6): c.3332_ 3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh37Chr 2, 48030718: 48030721
96MSH6NM_ 000179.2(MSH6): c.3528_ 3532delACTTG (p.Leu1177Cysfs)deletionPathogenic/ Likely pathogenicrs863225408GRCh38Chr 2, 47804999: 47805003
97MLH1NM_ 000249.3(MLH1): c.1676T> C (p.Leu559Pro)SNVLikely pathogenicrs63750059GRCh37Chr 3, 37083767: 37083767
98MLH1NM_ 000249.3(MLH1): c.2263A> G (p.Arg755Gly)SNVPathogenicrs267607900GRCh38Chr 3, 37050645: 37050645
99PMS2NM_ 000535.5: c.(1144+1_ 1145-1)_ (2174+1_ 2715-1)dupduplicationPathogenic
100MSH6NM_ 000179.2(MSH6): c.3632T> C (p.Leu1211Pro)SNVPathogenicrs864622041GRCh37Chr 2, 48032832: 48032832
101MSH2NM_ 000251.2(MSH2): c.1963_ 1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh38Chr 2, 47475228: 47475229
102MSH6NM_ 000179.2(MSH6): c.1691C> A (p.Ser564Ter)SNVPathogenicrs864622153GRCh38Chr 2, 47799674: 47799674
103MSH2NM_ 000251.2(MSH2): c.748G> T (p.Gly250Ter)SNVPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
104PMS2NM_ 000535.6(PMS2): c.121G> T (p.Glu41Ter)SNVPathogenicrs3209663GRCh38Chr 7, 6005934: 6005934
105MSH6NM_ 000179.2(MSH6): c.458-?_ 3172+?deldeletionPathogenicGRCh37Chr 2, 48023033: 48028294
106MLH1NM_ 000249.3(MLH1): c.381-1G> ASNVPathogenic/ Likely pathogenicrs267607744GRCh38Chr 3, 37006990: 37006990
107MSH6NM_ 000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
108MSH2NM_ 000251.2(MSH2): c.819_ 821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
109PMS2NM_ 000535.6(PMS2): c.538-?_ 903+?deldeletionPathogenicGRCh38Chr 7, 5995534: 5999275
110MSH2NM_ 000251.2(MSH2): c.842C> G (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
111MSH2NM_ 000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
112MLH1NM_ 000249.3(MLH1): c.1246A> T (p.Lys416Ter)SNVPathogenicrs267607823GRCh37Chr 3, 37067335: 37067335
113EPCAMNM_ 002354.2(EPCAM): c.491+1G> TSNVPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
114MSH6NM_ 000179.2(MSH6): c.3526A> T (p.Arg1176Ter)SNVPathogenicrs786203968GRCh37Chr 2, 48032136: 48032136
115MSH6NM_ 000179.2(MSH6): c.1387G> T (p.Glu463Ter)SNVPathogenicrs864622435GRCh37Chr 2, 48026509: 48026509
116MSH2NM_ 000251.2(MSH2): c.1563T> A (p.Tyr521Ter)SNVPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
117MSH2NM_ 000251.2(MSH2): c.421_ 422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh38Chr 2, 47410148: 47410149
118MSH6NM_ 000179.2(MSH6): c.2308_ 2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh38Chr 2, 47800291: 47800295
119PMS2NM_ 000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh37Chr 7, 6026646: 6026646
120MLH1NM_ 000249.3(MLH1): c.25_ 26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
121MSH2NM_ 000251.2(MSH2): c.1201_ 1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
122MSH6NM_ 000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
123MSH6NM_ 000179.2(MSH6): c.2848_ 2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
124PMS2NM_ 000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh37Chr 7, 6026896: 6026896
125MSH2NM_ 000251.2(MSH2): c.1384C> T (p.Gln462Ter)SNVPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
126PMS2NM_ 000535.6(PMS2): c.2T> G (p.Met1Arg)SNVPathogenicrs587780059GRCh37Chr 7, 6048649: 6048649
127PMS2NM_ 000535.6(PMS2): c.851C> G (p.Ser284Ter)SNVPathogenicrs587782898GRCh37Chr 7, 6035217: 6035217
128MSH6NM_ 000179.2(MSH6): c.2645_ 2653delTTAAGTCTA (p.Phe882_ Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
129PMS2NM_ 000535.6(PMS2): c.631C> T (p.Arg211Ter)SNVPathogenicrs760228510GRCh37Chr 7, 6038813: 6038813
130PMS2NM_ 000535.6(PMS2): c.2445+1G> TSNVPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
131MSH6NM_ 000179.2(MSH6): c.1350_ 1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
132MSH6NM_ 000179.2(MSH6): c.1570_ 1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
133MSH6NM_ 000179.2(MSH6): c.2056_ 2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh37Chr 2, 48027178: 48027182
134MSH6NM_ 000179.2(MSH6): c.2680C> T (p.Gln894Ter)SNVPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
135MSH6NM_ 000179.2(MSH6): c.2804_ 2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
136MSH6NM_ 000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
137MSH6NM_ 000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
138MSH6NM_ 000179.2(MSH6): c.3717_ 3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
139MSH6NM_ 000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
140MSH6NM_ 000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
141MLH1NM_ 000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
142MLH1NM_ 000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
143MLH1NM_ 000249.3(MLH1): c.2044_ 2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
144MLH1NM_ 000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
145MLH1NM_ 000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
146MLH1NM_ 000249.3(MLH1): c.961_ 962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
147MSH2NM_ 000251.2(MSH2): c.1404_ 1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
148MSH2NM_ 000251.2(MSH2): c.2150_ 2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh38Chr 2, 47476511: 47476514
149MSH2NM_ 000251.2(MSH2): c.340G> T (p.Glu114Ter)SNVPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
150MSH2NM_ 000251.2(MSH2): c.790C> T (p.Gln264Ter)SNVPathogenicrs878853824GRCh38Chr 2, 47412558: 47412558
151PMS2NM_ 000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
152PMS2NM_ 000535.6(PMS2): c.1591G> T (p.Glu531Ter)SNVPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
153PMS2NM_ 000535.6(PMS2): c.2276-?_ *160+?deldeletionPathogenic
154PMS2NM_ 000535.6(PMS2): c.947_ 948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh37Chr 7, 6031644: 6031645
155EPCAMNM_ 002354.2(EPCAM): c.133C> T (p.Gln45Ter)SNVPathogenicrs878854485GRCh38Chr 2, 47373519: 47373519
156EPCAMNM_ 002354.2(EPCAM): c.429G> A (p.Trp143Ter)SNVPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
157EPCAMNM_ 002354.2(EPCAM): c.523C> T (p.Gln175Ter)SNVPathogenicrs878854491GRCh38Chr 2, 47377045: 47377045
158MSH2NM_ 000251.2(MSH2): c.1008delT (p.Gln337Lysfs)deletionPathogenicrs879253899GRCh37Chr 2, 47643500: 47643500
159MSH2NM_ 000251.2(MSH2): c.366+1G> ASNVPathogenic/ Likely pathogenicrs267607924GRCh37Chr 2, 47635695: 47635695
160MSH6NM_ 000179.2(MSH6): c.458-?_ 4001+?deldeletionPathogenicGRCh37Chr 2, 48023033: 48033790
161MSH2NM_ 000251.2(MSH2): c.-125_ 645+?deldeletionPathogenicGRCh37Chr 2, 47630206: 47637511
162PMS2NM_ 000535.6(PMS2): c.-87_ 537+?deldeletionPathogenic
163MSH2NM_ 000251.2(MSH2): c.-125_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630206: 47643568
164PMS2NM_ 000535.6(PMS2): c.164-?_ 2006+?deldeletionPathogenic
165PMS2NC_ 000007.14: g.(?_ 5986753)_ (6009025_ ?)deldeletionPathogenicGRCh38Chr 7, 5986753: 6009025
166MSH2NM_ 000251.2(MSH2): c.367-?_ 645+?deldeletionPathogenicGRCh37Chr 2, 47637233: 47637511
167MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?deldeletionPathogenicGRCh37Chr 2, 47656881: 47657080
168PMS2NM_ 000535.6(PMS2): c.989-?_ 1144+?deldeletionPathogenicGRCh37Chr 7, 6029431: 6029586
169MSH2NM_ 000251.2(MSH2): c.1387-?_ 1510+?deldeletionPathogenicGRCh37Chr 2, 47690170: 47690293
170PMS2NM_ 000535.6(PMS2): c.2276-?_ 2445+?deldeletionPathogenicGRCh38Chr 7, 5977588: 5977757
171MLH1NM_ 000249.3(MLH1): c.793C> T (p.Arg265Cys)SNVPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
172MLH1NM_ 000249.3(MLH1): c.1865T> A (p.Leu622His)SNVPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
173MLH1NM_ 000249.3(MLH1): c.1381A> T (p.Lys461Ter)SNVPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
174MLH1NM_ 000249.3(MLH1): c.298C> T (p.Arg100Ter)SNVPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
175MLH1NM_ 000249.3(MLH1): c.454-1G> ASNVPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
176MSH2NM_ 000251.2(MSH2): c.1030C> T (p.Gln344Ter)SNVPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
177MSH2NM_ 000251.2(MSH2): c.1705_ 1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
178MSH2NM_ 000251.2(MSH2): c.2038C> T (p.Arg680Ter)SNVPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
179MSH2NM_ 000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationPathogenic/ Likely pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
180MSH2NM_ 000251.2(MSH2): c.942+3A> TSNVPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
181MSH6NM_ 000179.2(MSH6): c.3699_ 3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
182MLH1NM_ 000249.3(MLH1): c.1219C> T (p.Gln407Ter)SNVPathogenic/ Likely pathogenicrs1057517541GRCh38Chr 3, 37025817: 37025817
183MSH6NM_ 000179.2(MSH6): c.908dupT (p.Met303Ilefs)duplicationPathogenic/ Likely pathogenicrs1057517551GRCh37Chr 2, 48026030: 48026030
184MSH2NM_ 000251.2(MSH2): c.806C> A (p.Ser269Ter)SNVLikely pathogenicrs63750058GRCh38Chr 2, 47414282: 47414282
185MSH6NM_ 000179.2(MSH6): c.3573dupT (p.Val1192Cysfs)duplicationPathogenicrs1057517764GRCh37Chr 2, 48032773: 48032773
186MLH1NM_ 000249.3(MLH1): c.699T> A (p.Cys233Ter)SNVPathogenicrs764085979GRCh38Chr 3, 37014453: 37014453
187MLH1NM_ 000249.3(MLH1): c.1853dupA (p.Ala619Glyfs)duplicationPathogenicGRCh38Chr 3, 37047640: 37047640
188MLH1NM_ 000249.3(MLH1): c.268delG (p.Asp90Ilefs)deletionPathogenicrs1060500688GRCh38Chr 3, 37001015: 37001015
189MLH1NM_ 000249.3(MLH1): c.390C> G (p.Tyr130Ter)SNVPathogenicrs1060500689GRCh38Chr 3, 37007000: 37007000
190MLH1NM_ 000249.3(MLH1): c.1072_ 1078delGAGATGG (p.Glu358Leufs)deletionPathogenicrs1060500692GRCh38Chr 3, 37025670: 37025676
191MLH1NM_ 000249.3(MLH1): c.1105dupT (p.Ser369Phefs)duplicationPathogenicGRCh38Chr 3, 37025703: 37025703
192MLH1NM_ 000249.3(MLH1): c.1043delT (p.Leu348Cysfs)deletionPathogenicrs1060500703GRCh38Chr 3, 37025641: 37025641
193MLH1NM_ 000249.3(MLH1): c.2136delG (p.Trp712Terfs)deletionPathogenicrs1060500706GRCh37Chr 3, 37092009: 37092009
194MLH1NM_ 000249.3(MLH1): c.1047dupA (p.Pro350Thrfs)duplicationPathogenicGRCh38Chr 3, 37025645: 37025645
195MLH1NM_ 000249.3(MLH1): c.129dupA (p.Ser44Ilefs)duplicationPathogenicGRCh38Chr 3, 36996631: 36996631
196MSH2NM_ 000251.2(MSH2): c.388C> T (p.Gln130Ter)SNVPathogenicrs1060501989GRCh38Chr 2, 47410115: 47410115
197MSH2NM_ 000251.2(MSH2): c.1667dupT (p.Leu556Phefs)duplicationPathogenicGRCh38Chr 2, 47470970: 47470970
198MSH2NM_ 000251.2(MSH2): c.87_ 90delGCCG (p.Thr31Profs)deletionPathogenicrs1060502000GRCh38Chr 2, 47403278: 47403281
199MSH2NM_ 000251.2(MSH2): c.85A> T (p.Lys29Ter)SNVPathogenicrs1060502001GRCh38Chr 2, 47403276: 47403276
200MSH2NM_ 000251.2(MSH2): c.830T> A (p.Leu277Ter)SNVPathogenicrs786203424GRCh38Chr 2, 47414306: 47414306
201MSH2NM_ 000251.2(MSH2): c.350G> A (p.Trp117Ter)SNVPathogenicrs786202083GRCh38Chr 2, 47408539: 47408539
202MSH2NM_ 000251.2(MSH2): c.510dupG (p.Arg171Glufs)duplicationPathogenicGRCh38Chr 2, 47410237: 47410237
203MSH2NM_ 000251.2(MSH2): c.1405delC (p.Val470Terfs)deletionPathogenicrs1060502027GRCh38Chr 2, 47463049: 47463049
204MSH2NM_ 000251.2(MSH2): c.1470_ 1473delGAAGinsAAA (p.Met492Cysfs)indelPathogenicrs1060502029GRCh37Chr 2, 47690253: 47690256
205MSH2NM_ 000251.2(MSH2): c.2161G> T (p.Gly721Ter)SNVPathogenicrs1060502032GRCh38Chr 2, 47476522: 47476522
206MSH2NM_ 000251.2(MSH2): c.1308dupT (p.Val437Cysfs)duplicationPathogenicGRCh38Chr 2, 47445579: 47445579
207MSH2NM_ 000251.2(MSH2): c.1796delT (p.Leu599Terfs)deletionPathogenicrs1060502039GRCh38Chr 2, 47475061: 47475061
208MSH6NM_ 000179.2(MSH6): c.2294dupG (p.Cys765Trpfs)duplicationPathogenicGRCh38Chr 2, 47800277: 47800277
209MSH6NM_ 000179.2(MSH6): c.442_ 443delTT (p.Leu148Lysfs)deletionPathogenicrs1060502875GRCh38Chr 2, 47791108: 47791109
210MSH6NM_ 000179.2(MSH6): c.2735G> A (p.Trp912Ter)SNVPathogenicrs1060502876GRCh38Chr 2, 47800718: 47800718
211MSH6NM_ 000179.2(MSH6): c.3577_ 3581delGAATT (p.Glu1193Lysfs)deletionPathogenicrs1060502881GRCh38Chr 2, 47805638: 47805642
212MSH6NM_ 000179.2(MSH6): c.3149delC (p.Ala1050Valfs)deletionPathogenicrs1060502882GRCh38Chr 2, 47801132: 47801132
213MSH6NM_ 000179.2(MSH6): c.3850_ 3857dupACGTTCCT (p.Tyr1287Argfs)duplicationPathogenicGRCh38Chr 2, 47806500: 47806507
214MSH6NM_ 000179.2(MSH6): c.1815_ 1816delTA (p.Lys606Asnfs)deletionPathogenicrs1060502886GRCh38Chr 2, 47799798: 47799799
215MSH6NM_ 000179.2(MSH6): c.873_ 874delCA (p.Asn291Lysfs)deletionPathogenicrs1060502888GRCh38Chr 2, 47798856: 47798857
216MSH6NM_ 000179.2(MSH6): c.2991delA (p.Lys997Asnfs)deletionPathogenicrs1060502890GRCh38Chr 2, 47800974: 47800974
217MSH6NM_ 000179.2(MSH6): c.3253delA (p.Thr1085Profs)deletionPathogenicrs1060502891GRCh38Chr 2, 47803500: 47803500
218MSH6NM_ 000179.2(MSH6): c.1572C> A (p.Tyr524Ter)SNVPathogenicrs587779215GRCh38Chr 2, 47799555: 47799555
219MSH6NM_ 000179.2(MSH6): c.261-3237_ 3735deldeletionPathogenicGRCh38Chr 2, 47787690: 47806292
220MSH6NM_ 000179.2(MSH6): c.1805C> A (p.Ser602Ter)SNVPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
221MSH6NM_ 000179.2(MSH6): c.3827_ 3830dupAAGA (p.Asp1277Glufs)duplicationPathogenicGRCh38Chr 2, 47806477: 47806480
222MSH6NM_ 000179.2(MSH6): c.2010delG (p.Leu671Terfs)deletionPathogenicrs1060502918GRCh38Chr 2, 47799993: 47799993
223MSH6NM_ 000179.2(MSH6): c.2550C> G (p.Tyr850Ter)SNVPathogenicrs374230313GRCh38Chr 2, 47800533: 47800533
224MSH6NM_ 000179.2(MSH6): c.3556+1G> ASNVPathogenicrs1060502926GRCh38Chr 2, 47805028: 47805028
225MSH6NM_ 000179.2(MSH6): c.741dupA (p.Arg248Thrfs)duplicationPathogenicGRCh38Chr 2, 47798724: 47798724
226MSH6NM_ 000179.2(MSH6): c.999delC (p.Lys334Argfs)deletionPathogenicrs1060502932GRCh38Chr 2, 47798982: 47798982
227MSH6NM_ 000179.2(MSH6): c.3973A> T (p.Lys1325Ter)SNVPathogenicrs1060502937GRCh38Chr 2, 47806623: 47806623
228MSH6NM_ 000179.2(MSH6): c.1333_ 1334delAG (p.Ser445Terfs)deletionPathogenicrs1060502940GRCh38Chr 2, 47799316: 47799317
229MSH6NM_ 000179.2(MSH6): c.896delA (p.Lys299Serfs)deletionPathogenicrs1060502941GRCh37Chr 2, 48026018: 48026018
230MSH6NM_ 000179.2(MSH6): c.1295_ 1296insAA (p.Phe432Leufs)insertionPathogenicrs1060502946GRCh38Chr 2, 47799278: 47799279
231PMS2NM_ 000535.6(PMS2): c.2192T> G (p.Leu731Ter)SNVPathogenicrs1060503110GRCh38Chr 7, 5978679: 5978679
232PMS2NM_ 000535.6(PMS2): c.779_ 780delCCinsAG (p.Ser260Ter)indelPathogenicrs730881920GRCh38Chr 7, 5997349: 5997350
233PMS2NM_ 000535.6(PMS2): c.859dupA (p.Arg287Lysfs)duplicationPathogenicGRCh38Chr 7, 5995578: 5995578
234PMS2NM_ 000535.6(PMS2): c.1864_ 1865delAT (p.Met622Glufs)deletionPathogenicrs1060503137GRCh38Chr 7, 5986900: 5986901
235PMS2NM_ 000535.6(PMS2): c.1891C> T (p.Gln631Ter)SNVPathogenicrs1060503138GRCh38Chr 7, 5986874: 5986874
236PMS2NM_ 000535.6(PMS2): c.686_ 687delCT (p.Ser229Cysfs)deletionPathogenicrs746766787GRCh38Chr 7, 5999126: 5999127
237PMS2NM_ 000535.6(PMS2): c.1348A> T (p.Lys450Ter)SNVPathogenicrs1060503142GRCh38Chr 7, 5987417: 5987417
238PMS2NM_ 000535.6(PMS2): c.129delA (p.Glu44Lysfs)deletionPathogenicrs1060503148GRCh37Chr 7, 6045557: 6045557
239PMS2NM_ 000535.6(PMS2): c.1912C> T (p.Gln638Ter)SNVPathogenicrs764342199GRCh38Chr 7, 5986853: 5986853
240PMS2NM_ 000535.6(PMS2): c.1653C> A (p.Cys551Ter)SNVPathogenicrs876659162GRCh38Chr 7, 5987112: 5987112
241MLH1NM_ 000249.3(MLH1): c.208-?_ 306+?deldeletionPathogenicGRCh38Chr 3, 37000955: 37001053
242MLH1NM_ 000249.3(MLH1): c.1410-?_ 1558+?deldeletionPathogenicGRCh37Chr 3, 37070275: 37070423
243MLH1NC_ 000003.12: g.(?_ 36996619)_ (37001053_ ?)deldeletionPathogenicGRCh38Chr 3, 36996619: 37001053
244MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37028932
245MLH1NM_ 000249.3(MLH1): c.1559-?_ 1667+?deldeletionPathogenicGRCh37Chr 3, 37081677: 37081785
246MSH2NM_ 000251.2(MSH2): c.1277-?_ 1661+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47466808
247MSH2NC_ 000002.12: g.(?_ 47403067)_ (47403402_ ?)deldeletionPathogenicGRCh37Chr 2, 47630206: 47630541
248MSH2NC_ 000002.12: g.(?_ 47412414)_ (47483228_ ?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710367
249MSH2NC_ 000002.12: g.(?_ 47403067)_ (47408555_ ?)deldeletionPathogenicGRCh38Chr 2, 47403067: 47408555
250MSH2NM_ 000251.2(MSH2): c.2006-?_ 2210+?deldeletionPathogenicGRCh37Chr 2, 47703506: 47703710
251MSH2NM_ 000251.2(MSH2): c.212-?_ 366+?deldeletionPathogenicGRCh38Chr 2, 47408401: 47408555
252MSH2NM_ 000251.2(MSH2): c.646-?_ 792+?deldeletionLikely pathogenicGRCh38Chr 2, 47412414: 47412560
253MSH2NC_ 000002.12: g.(?_ 47403067)_ (47483228_ ?)deldeletionPathogenicGRCh37Chr 2, 47630206: 47710367
254MSH6NC_ 000002.12: g.(?_ 47803420)_ (47805027_ ?)deldeletionPathogenicGRCh38Chr 2, 47803420: 47805027
255MSH6NC_ 000002.12: g.(?_ 47795894)_ (47805027_ ?)deldeletionPathogenicGRCh38Chr 2, 47795894: 47805027
256MSH6NC_ 000002.12: g.(?_ 47790927)_ (47801155_ ?)deldeletionPathogenicGRCh38Chr 2, 47790927: 47801155
257EPCAMNC_ 000002.12: g.(?_ 47369148)_ (47387028_ ?)deldeletionPathogenicGRCh37Chr 2, 47596287: 47614167
258EPCAMNC_ 000002.12: g.(?_ 47378953)_ (47387028_ ?)deldeletionPathogenicGRCh38Chr 2, 47378953: 47387028
259EPCAMNC_ 000002.12: g.(?_ 47377014)_ (47377077_ ?)deldeletionPathogenicGRCh37Chr 2, 47604153: 47604216
260PMS2NC_ 000007.14: g.(?_ 6003690)_ (6004058_ ?)deldeletionPathogenicGRCh37Chr 7, 6043321: 6043689
261PMS2NC_ 000007.14: g.(?_ 5991973)_ (6002636_ ?)deldeletionPathogenicGRCh37Chr 7, 6031604: 6042267
262PMS2NC_ 000007.14: g.(?_ 5991973)_ (6006031_ ?)deldeletionPathogenicGRCh38Chr 7, 5991973: 6006031
263PMS2NC_ 000007.14: g.(?_ 5997326)_ (6004058_ ?)deldeletionPathogenicGRCh37Chr 7, 6036957: 6043689
264PMS2NC_ 000007.14: g.(?_ 5991973)_ (6009106_ ?)deldeletionPathogenicGRCh38Chr 7, 5991973: 6009106
265PMS2NC_ 000007.14: g.(?_ 5991973)_ (5999275_ ?)deldeletionPathogenicGRCh37Chr 7, 6031604: 6038906
266MSH6NC_ 000002.12: g.(?_ 47790927)_ (47791123_ ?)deldeletionPathogenicGRCh37Chr 2, 48018066: 48018262
267MSH2NM_ 000251.2(MSH2): c.1277-?_ 2634+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47480871
268MSH2NM_ 000251.2(MSH2): c.367-?_ 1076+?deldeletionPathogenicGRCh38Chr 2, 47410094: 47416429
269MSH2NM_ 000251.2(MSH2): c.1277-?_ 1386+?deldeletionPathogenicGRCh38Chr 2, 47445548: 47445657
270MSH6NM_ 000179.2(MSH6): c.3173-1G> CSNVPathogenic/ Likely pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
271MSH6NM_ 000179.2(MSH6): c.3991C> T (p.Arg1331Ter)SNVPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
272MSH6NM_ 000179.2(MSH6): c.(?_ -152)_ (*93_ ?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
273MSH6NM_ 000179.2(MSH6): c.(?_ -152)_ 457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
274MSH6NM_ 000179.2(MSH6): c.-11863_ 457+1921deldeletionPathogenicNCBI36Chr 2, 47852014: 47873687
275MSH6NM_ 000179.2(MSH6): c.-3097_ 457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
276MSH6NM_ 000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
277MSH6NM_ 000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
278MSH6NM_ 000179.2(MSH6): c.1135_ 1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
279MSH6NM_ 000179.2(MSH6): c.1139_ 1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
280MSH6NM_ 000179.2(MSH6): c.1190_ 1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
281MSH6NM_ 000179.2(MSH6): c.1193T> A (p.Val398Glu)SNVPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
282MSH6NM_ 000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
283MSH6NM_ 000179.2(MSH6): c.1299T> A (p.Tyr433Ter)SNVPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
284MSH6NM_ 000179.2(MSH6): c.1346T> C (p.Leu449Pro)SNVPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
285MSH6NM_ 000179.2(MSH6): c.1421_ 1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
286MSH6NM_ 000179.2(MSH6): c.1444C> T (p.Arg482Ter)SNVPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
287MSH6NM_ 000179.2(MSH6): c.1477G> T (p.Glu493Ter)SNVPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
288MSH6NM_ 000179.2(MSH6): c.1483C> T (p.Arg495Ter)SNVPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
289MSH6NM_ 000179.2(MSH6): c.1572C> G (p.Tyr524Ter)SNVPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
290MSH6NM_ 000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
291MSH6NM_ 000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
292MSH6NM_ 000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
293MSH6NM_ 000179.2(MSH6): c.1614_ 1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
294MSH6NM_ 000179.2(MSH6): c.1614_ 1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
295MSH6NM_ 000179.2(MSH6): c.1628_ 1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
296MSH6NM_ 000179.2(MSH6): c.1632_ 1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
297MSH6NM_ 000179.2(MSH6): c.1634_ 1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
298MSH6NM_ 000179.2(MSH6): c.1637_ 1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
299MSH6NM_ 000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
300MSH6NM_ 000179.2(MSH6): c.1806_ 1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
301MSH6NM_ 000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
302MSH6NM_ 000179.2(MSH6): c.1835C> A (p.Ser612Ter)SNVPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
303MSH6NM_ 000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
304MSH6NM_ 000179.2(MSH6): c.1901_ 1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
305MSH6NM_ 000179.2(MSH6): c.1957_ 1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
306MSH6NM_ 000179.2(MSH6): c.2045_ 2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
307MSH6NM_ 000179.2(MSH6): c.2050_ 2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
308MSH6NM_ 000179.2(MSH6): c.2061T> A (p.Cys687Ter)SNVPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
309MSH6NM_ 000179.2(MSH6): c.2062_ 2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
310MSH6NM_ 000179.2(MSH6): c.2105C> G (p.Ser702Ter)SNVPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
311MSH6NM_ 000179.2(MSH6): c.2127T> A (p.Tyr709Ter)SNVPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
312MSH6NM_ 000179.2(MSH6): c.2150_ 2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
313MSH6NM_ 000179.2(MSH6): c.2191C> T (p.Gln731Ter)SNVPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
314MSH6NM_ 000179.2(MSH6): c.2194C> T (p.Arg732Ter)SNVPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
315MSH6NM_ 000179.2(MSH6): c.2330G> A (p.Trp777Ter)SNVPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
316MSH6NM_ 000179.2(MSH6): c.2348_ 2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
317MSH6NM_ 000179.2(MSH6): c.2379_ 2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
318MSH6NM_ 000179.2(MSH6): c.2503C> T (p.Gln835Ter)SNVPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
319MSH6NM_ 000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
320MSH6NM_ 000179.2(MSH6): c.2569_ 2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
321MSH6NM_ 000179.2(MSH6): c.2611_ 2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
322MSH6NM_ 000179.2(MSH6): c.2672_ 2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
323MSH6NM_ 000179.2(MSH6): c.2714T> A (p.Leu905Ter)SNVPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
324MSH6NM_ 000179.2(MSH6): c.2719_ 2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
325MSH6NM_ 000179.2(MSH6): c.2731C> T (p.Arg911Ter)SNVPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
326MSH6NM_ 000179.2(MSH6): c.2764C> T (p.Arg922Ter)SNVPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
327MSH6NM_ 000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
328MSH6NM_ 000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
329MSH6NM_ 000179.2(MSH6): c.2815C> T (p.Gln939Ter)SNVPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
330MSH6NM_ 000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh37Chr 2, 48025773: 48025773
331MSH6NM_ 000179.2(MSH6): c.2851_ 2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
332MSH6NM_ 000179.2(MSH6): c.2931C> G (p.Tyr977Ter)SNVPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
333MSH6NM_ 000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
334MSH6NM_ 000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
335MSH6NM_ 000179.2(MSH6): c.2983G> T (p.Glu995Ter)SNVPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
336MSH6NM_ 000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
337MSH6NM_ 000179.2(MSH6): c.3013C> T (p.Arg1005Ter)SNVPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
338MSH6NM_ 000179.2(MSH6): c.3020G> A (p.Trp1007Ter)SNVPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
339MSH6NM_ 000179.2(MSH6): c.3053_ 3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
340MSH6NM_ 000179.2(MSH6): c.3067G> T (p.Glu1023Ter)SNVPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
341MSH6NM_ 000179.2(MSH6): c.3103C> T (p.Arg1035Ter)SNVPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
342MSH6NM_ 000179.2(MSH6): c.3119_ 3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
343MSH6NM_ 000179.2(MSH6): c.3155_ 3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
344MSH6NM_ 000179.2(MSH6): c.3172+1G> TSNVLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
345MSH6NM_ 000179.2(MSH6): c.3173-1_ 3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
346MSH6NM_ 000179.2(MSH6): c.3173-433_ 3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
347MSH6NM_ 000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
348MSH6NM_ 000179.2(MSH6): c.3195_ 3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
349MSH6NM_ 000179.2(MSH6): c.3198_ 3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
350MSH6NM_ 000179.2(MSH6): c.3202C> T (p.Arg1068Ter)SNVPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
351MSH6NM_ 000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
352MSH6NM_ 000179.2(MSH6): c.3259_ 3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
353MSH6NM_ 000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
354MSH6NM_ 000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
355MSH6NM_ 000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
356MSH6NM_ 000179.2(MSH6): c.3268_ 3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
357MSH6NM_ 000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
358MSH6NM_ 000179.2(MSH6): c.3311_ 3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
359MSH6NM_ 000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
360MSH6NM_ 000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
361MSH6NM_ 000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
362MSH6NM_ 000179.2(MSH6): c.3341_ 3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
363MSH6NM_ 000179.2(MSH6): c.3355G> T (p.Glu1119Ter)SNVPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
364MSH6NM_ 000179.2(MSH6): c.3367G> T (p.Glu1123Ter)SNVPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
365MSH6NM_ 000179.2(MSH6): c.3379_ 3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
366MSH6NM_ 000179.2(MSH6): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
367MSH6NM_ 000179.2(MSH6): c.3438+797_ 3438+798insTATins1839_ 3438+797insertionPathogenic
368MSH6NM_ 000179.2(MSH6): c.3439-1G> TSNVLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
369MSH6NM_ 000179.2(MSH6): c.3439-2A> GSNVLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
370MSH6NM_ 000179.2(MSH6): c.3487G> T (p.Glu1163Ter)SNVPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
371MSH6NM_ 000179.2(MSH6): c.3511_ 3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
372MSH6NM_ 000179.2(MSH6): c.3513_ 3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
373MSH6NM_ 000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
374MSH6NM_ 000179.2(MSH6): c.3516_ 3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
375MSH6NM_ 000179.2(MSH6): c.3519_ 3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
376MSH6NM_ 000179.2(MSH6): c.3519_ 3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
377MSH6NM_ 000179.2(MSH6): c.3557-?_ (*93_ ?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
378MSH6NM_ 000179.2(MSH6): c.3609_ 3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
379MSH6NM_ 000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
380MSH6NM_ 000179.2(MSH6): c.3647-1G> ASNVPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
381MSH6NM_ 000179.2(MSH6): c.3647-2A> CSNVPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
382MSH6NM_ 000179.2(MSH6): c.3678_ 3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
383MSH6NM_ 000179.2(MSH6): c.3725_ 3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
384MSH6NM_ 000179.2(MSH6): c.3729_ 3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
385MSH6NM_ 000179.2(MSH6): c.3757_ 3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
386MSH6NM_ 000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)SNVPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
387MSH6NM_ 000179.2(MSH6): c.3772C> T (p.Gln1258Ter)SNVPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
388MSH6NM_ 000179.2(MSH6): c.3798_ 3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
389MSH6NM_ 000179.2(MSH6): c.3799_ 3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
390MSH6NM_ 000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
391MSH6NM_ 000179.2(MSH6): c.3821_ 3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
392MSH6NM_ 000179.2(MSH6): c.3838C> T (p.Gln1280Ter)SNVPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
393MSH6NM_ 000179.2(MSH6): c.3840_ 3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
394MSH6NM_ 000179.2(MSH6): c.3847_ 3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
395MSH6NM_ 000179.2(MSH6): c.3887_ 3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
396MSH6NM_ 000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
397MSH6NM_ 000179.2(MSH6): c.3920_ 3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
398MSH6NM_ 000179.2(MSH6): c.3932_ 3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
399MSH6NM_ 000179.2(MSH6): c.3938_ 3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
400MSH6NM_ 000179.2(MSH6): c.3939_ 3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
401MSH6NM_ 000179.2(MSH6): c.3953_ 3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
402MSH6NM_ 000179.2(MSH6): c.3959_ 3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
403MSH6NM_ 000179.2(MSH6): c.3969_ 3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
404MSH6NM_ 000179.2(MSH6): c.3984_ 3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
405MSH6NM_ 000179.2 (MSH6): c.3984_ 3987dupGTCA (p.Leu1330Valfs)duplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
406MSH6NM_ 000179.2(MSH6): c.3996_ 4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
407MSH6NM_ 000179.2(MSH6): c.4001+2T> CSNVPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
408MSH6NM_ 000179.2(MSH6): c.4001G> A (p.Arg1334Gln)SNVPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
409MSH6NM_ 000179.2(MSH6): c.4002-31_ 4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
410MSH6NM_ 000179.2(MSH6): c.426G> A (p.Trp142Ter)SNVPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
411MSH6NM_ 000179.2(MSH6): c.457+2T> ASNVPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
412MSH6NM_ 000179.2(MSH6): c.458-?_ 627+?deldeletionPathogenic
413MSH6NM_ 000179.2(MSH6): c.467C> G (p.Ser156Ter)SNVPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
414MSH6NM_ 000179.2(MSH6): c.522_ 523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
415MSH6NM_ 000179.2(MSH6): c.599C> A (p.Ser200Ter)SNVPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
416MSH6NM_ 000179.2(MSH6): c.642C> A (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
417MSH6NM_ 000179.2(MSH6): c.642C> G (p.Tyr214Ter)SNVPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
418MSH6NM_ 000179.2(MSH6): c.652A> T (p.Lys218Ter)SNVPathogenicrs587779315GRCh37Chr 2, 48025774: 48025774
419MSH6NM_ 000179.2(MSH6): c.694C> T (p.Gln232Ter)SNVPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
420MSH6NM_ 000179.2(MSH6): c.706C> T (p.Gln236Ter)SNVPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
421MSH6NM_ 000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
422MSH6NM_ 000179.2(MSH6): c.718C> T (p.Arg240Ter)SNVPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
423MSH6NM_ 000179.2(MSH6): c.730C> T (p.Gln244Ter)SNVPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
424MSH6NM_ 000179.2(MSH6): c.738_ 739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
425MSH6NM_ 000179.2(MSH6): c.742C> T (p.Arg248Ter)SNVPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
426MSH6NM_ 000179.2(MSH6): c.755C> G (p.Ser252Ter)SNVPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
427MSH6NM_ 000179.2(MSH6): c.762_ 763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
428MSH6NM_ 000179.2(MSH6): c.814G> T (p.Glu272Ter)SNVPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
429MSH6NM_ 000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
430MSH6NM_ 000179.2(MSH6): c.892C> T (p.Arg298Ter)SNVPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
431MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ (*193_ ?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
432MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
433MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
434MLH1MLH1: c.(?_ -198)_ 207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
435MLH1MLH1: c.(?_ -198)_ 306+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37001053
436MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
437MLH1NM_ 000249.3(MLH1): c.(?_ -198)_ 884+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37059090
438MLH1NM_ 000249.3(MLH1): c.-381_ 207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
439MLH1NM_ 000249.3(MLH1): c.-54519_ 1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
440MLH1NM_ 000249.3(MLH1): c.-73960_ *46597deldeletionPathogenic
441MLH1NM_ 000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
442MLH1NM_ 000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
443MLH1NM_ 000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
444MLH1NM_ 000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
445MLH1NM_ 000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
446MLH1NM_ 000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
447MLH1NM_ 000249.3(MLH1): c.102_ 103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
448MLH1NM_ 000249.3(MLH1): c.1038G> A (p.Gln346=)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
449MLH1NM_ 000249.3(MLH1): c.1038G> C (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
450MLH1NM_ 000249.3(MLH1): c.1038G> T (p.Gln346His)SNVPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
451MLH1NM_ 000249.3(MLH1): c.1039-1G> ASNVPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
452MLH1NM_ 000249.3(MLH1): c.1039-2329_ 1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
453MLH1NM_ 000249.3(MLH1): c.1039-675_ 1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
454MLH1NM_ 000249.3(MLH1): c.1039-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
455MLH1NM_ 000249.3(MLH1): c.1039-?_ 1409+?deldeletionPathogenicGRCh37Chr 3, 37067128: 37067498
456MLH1NM_ 000249.3(MLH1): c.1039-?_ 1558+?deldeletionPathogenic
457MLH1NM_ 000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
458MLH1NM_ 000249.3(MLH1): c.104T> G (p.Met35Arg)SNVPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
459MLH1NM_ 000249.3(MLH1): c.104_ 105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
460MLH1NM_ 000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
461MLH1NM_ 000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
462MLH1NM_ 000249.3(MLH1): c.1071_ 1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
463MLH1NM_ 000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
464MLH1NM_ 000249.3(MLH1): c.109G> T (p.Glu37Ter)SNVPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
465MLH1NM_ 000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh37Chr 3, 37067190: 37067190
466MLH1NM_ 000249.3(MLH1): c.1128_ 1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
467MLH1NM_ 000249.3(MLH1): c.112A> C (p.Asn38His)SNVPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
468MLH1NM_ 000249.3(MLH1): c.1132_ 1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
469MLH1NM_ 000249.3(MLH1): c.113A> G (p.Asn38Ser)SNVPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
470MLH1NM_ 000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
471MLH1NM_ 000249.3(MLH1): c.114C> G (p.Asn38Lys)SNVPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
472MLH1NM_ 000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
473MLH1NM_ 000249.3(MLH1): c.116+5G> CSNVPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
474MLH1NM_ 000249.3(MLH1): c.1163_ 1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
475MLH1NM_ 000249.3(MLH1): c.116G> A (p.Cys39Tyr)SNVLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
476MLH1NM_ 000249.3(MLH1): c.117-691_ 306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
477MLH1NM_ 000249.3(MLH1): c.117-707_ 545+1338delinsTCCCGGGTTCAAGCGATTCTindelPathogenicGRCh37Chr 3, 37037403: 37051734
478MLH1NM_ 000249.3(MLH1): c.117-?_ 207+?deldeletionPathogenic
479MLH1NM_ 000249.3(MLH1): c.117-?_ 380+?deldeletionPathogenic
480MLH1NM_ 000249.3(MLH1): c.117-?_ 545+?deldeletionPathogenic
481MLH1NM_ 000249.3(MLH1): c.1171C> T (p.Gln391Ter)SNVPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
482MLH1NM_ 000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
483MLH1NM_ 000249.3(MLH1): c.1192C> T (p.Gln398Ter)SNVPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
484MLH1NM_ 000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
485MLH1NM_ 000249.3(MLH1): c.1210_ 1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
486MLH1NM_ 000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
487MLH1NM_ 000249.3(MLH1): c.1217_ 1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
488MLH1NM_ 000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
489MLH1NM_ 000249.3(MLH1): c.121G> C (p.Asp41His)SNVLikely pathogenicrs267607713GRCh37Chr 3, 37038114: 37038114
490MLH1NM_ 000249.3(MLH1): c.1225C> T (p.Gln409Ter)SNVPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
491MLH1NM_ 000249.3(MLH1): c.122A> G (p.Asp41Gly)SNVPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
492MLH1NM_ 000249.3(MLH1): c.1252_ 1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
493MLH1NM_ 000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
494MLH1NM_ 000249.3(MLH1): c.1276C> T (p.Gln426Ter)SNVPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
495MLH1NM_ 000249.3(MLH1): c.128_ 131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
496MLH1NM_ 000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
497MLH1NM_ 000249.3(MLH1): c.1325_ 1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
498MLH1NM_ 000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
499MLH1NM_ 000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
500MLH1NM_ 000249.3(MLH1): c.1347_ 1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
501MLH1NM_ 000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
502MLH1NM_ 000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
503MLH1NM_ 000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
504MLH1NM_ 000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
505MLH1NM_ 000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
506MLH1NM_ 000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
507MLH1NM_ 000249.3(MLH1): c.1380_ 1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
508MLH1NM_ 000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
509MLH1NM_ 000249.3(MLH1): c.1409+1127_ 1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
510MLH1NM_ 000249.3(MLH1): c.1409+1156_ 1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
511MLH1NM_ 000249.3(MLH1): c.1409+1G> ASNVLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
512MLH1NM_ 000249.3(MLH1): c.1409+1G> CSNVPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
513MLH1NM_ 000249.3(MLH1): c.1410-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
514MLH1NM_ 000249.3(MLH1): c.1410-?_ 1558+?deldeletionPathogenic
515MLH1NM_ 000249.3(MLH1): c.1410-?_ 1731+?deldeletionPathogenic
516MLH1NM_ 000249.3(MLH1): c.1411_ 1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
517MLH1NM_ 000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
518MLH1NM_ 000249.3(MLH1): c.1413_ 1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
519MLH1NM_ 000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
520MLH1NM_ 000249.3(MLH1): c.1415_ 1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
521MLH1NM_ 000249.3(MLH1): c.1415_ 1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
522MLH1NM_ 000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
523MLH1NM_ 000249.3(MLH1): c.142C> T (p.Gln48Ter)SNVPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
524MLH1NM_ 000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
525MLH1NM_ 000249.3(MLH1): c.1459C> T (p.Arg487Ter)SNVPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
526MLH1NM_ 000249.3(MLH1): c.1462A> T (p.Lys488Ter)SNVPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
527MLH1NM_ 000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
528MLH1NM_ 000249.3(MLH1): c.1464_ 1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
529MLH1NM_ 000249.3(MLH1): c.146T> A (p.Val49Glu)SNVPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
530MLH1NM_ 000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
531MLH1NM_ 000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
532MLH1NM_ 000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
533MLH1NM_ 000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
534MLH1NM_ 000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
535MLH1NM_ 000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
536MLH1NM_ 000249.3(MLH1): c.1528C> T (p.Gln510Ter)SNVPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
537MLH1NM_ 000249.3(MLH1): c.1534G> T (p.Glu512Ter)SNVPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
538MLH1NM_ 000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
539MLH1NM_ 000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
540MLH1NM_ 000249.3(MLH1): c.1549G> T (p.Gly517Ter)SNVPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
541MLH1NM_ 000249.3(MLH1): c.1552_ 1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
542MLH1NM_ 000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
543MLH1NM_ 000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
544MLH1NM_ 000249.3(MLH1): c.1557_ 1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
545MLH1NM_ 000249.3(MLH1): c.1558+1G> TSNVPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
546MLH1NM_ 000249.3(MLH1): c.1559-1322_ 1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
547MLH1NM_ 000249.3(MLH1): c.1559-1G> TSNVPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
548MLH1NM_ 000249.3(MLH1): c.1559-2A> CSNVLikely pathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
549MLH1NM_ 000249.3(MLH1): c.1559-2A> GSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
550MLH1NM_ 000249.3(MLH1): c.1559-2A> TSNVPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
551MLH1NM_ 000249.3(MLH1): c.1559-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
552MLH1NM_ 000249.3(MLH1): c.1559-?_ 1667+?deldeletionPathogenic
553MLH1NM_ 000249.3(MLH1): c.1559-?_ 1731+?deldeletionPathogenic
554MLH1NM_ 000249.3(MLH1): c.155_ 158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
555MLH1NM_ 000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
556MLH1NM_ 000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
557MLH1NM_ 000249.3(MLH1): c.1572_ 1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
558MLH1NM_ 000249.3(MLH1): c.1573_ 1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
559MLH1NM_ 000249.3(MLH1): c.1574T> A (p.Leu525Ter)SNVPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
560MLH1NM_ 000249.3(MLH1): c.1588_ 1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
561MLH1NM_ 000249.3(MLH1): c.1592_ 1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
562MLH1NM_ 000249.3(MLH1): c.15_ 28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
563MLH1NM_ 000249.3(MLH1): c.1609C> T (p.Gln537Ter)SNVPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
564MLH1NM_ 000249.3(MLH1): c.1613G> A (p.Trp538Ter)SNVPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
565MLH1NM_ 000249.3(MLH1): c.1614G> A (p.Trp538Ter)SNVPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
566MLH1NM_ 000249.3(MLH1): c.161_ 164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
567MLH1NM_ 000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
568MLH1NM_ 000249.3(MLH1): c.1620_ 1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
569MLH1NM_ 000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
570MLH1NM_ 000249.3(MLH1): c.1624C> T (p.Gln542Ter)SNVPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
571MLH1NM_ 000249.3(MLH1): c.1639_ 1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
572MLH1NM_ 000249.3(MLH1): c.1640T> A (p.Leu547Ter)SNVPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
573MLH1NM_ 000249.3(MLH1): c.1644C> G (p.Tyr548Ter)SNVPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
574MLH1NM_ 000249.3(MLH1): c.1664_ 1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
575MLH1NM_ 000249.3(MLH1): c.1667+2_ 1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
576MLH1NM_ 000249.3(MLH1): c.1667G> T (p.Ser556Ile)SNVPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
577MLH1NM_ 000249.3(MLH1): c.1668-1G> ASNVLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
578MLH1NM_ 000249.3(MLH1): c.1668-?_ 1731+?deldeletionPathogenic
579MLH1NM_ 000249.3(MLH1): c.1668-?_ 1896+?deldeletionPathogenic
580MLH1NM_ 000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
581MLH1NM_ 000249.3(MLH1): c.1669G> T (p.Glu557Ter)SNVPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
582MLH1NM_ 000249.3(MLH1): c.1672G> T (p.Glu558Ter)SNVPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
583MLH1NM_ 000249.3(MLH1): c.1683C> G (p.Tyr561Ter)SNVPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
584MLH1NM_ 000249.3(MLH1): c.1684C> T (p.Gln562Ter)SNVPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
585MLH1NM_ 000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
586MLH1NM_ 000249.3(MLH1): c.1690_ 1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
587MLH1NM_ 000249.3(MLH1): c.1717_ 1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
588MLH1NM_ 000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
589MLH1NM_ 000249.3(MLH1): c.1731+1G> ASNVPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
590MLH1NM_ 000249.3(MLH1): c.1731+270_ 1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
591MLH1NM_ 000249.3(MLH1): c.1731+5G> ASNVPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
592MLH1NM_ 000249.3(MLH1): c.1731+768_ 1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
593MLH1NM_ 000249.3(MLH1): c.1731G> A (p.Ser577=)SNVPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
594MLH1NM_ 000249.3(MLH1): c.1732-1G> ASNVPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
595MLH1NM_ 000249.3(MLH1): c.1732-2243_ 1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
596MLH1NM_ 000249.3(MLH1): c.1732-2A> TSNVPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
597MLH1NM_ 000249.3(MLH1): c.1732-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37089010: 37092337
598MLH1NM_ 000249.3(MLH1): c.1732-?_ 1896+?deldeletionPathogenic
599MLH1NM_ 000249.3(MLH1): c.1732-?_ 2103+?deldeletionPathogenic
600MLH1NM_ 000249.3(MLH1): c.1745T> C (p.Leu582Pro)SNVPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
601MLH1NM_ 000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
602MLH1NM_ 000249.3(MLH1): c.1748_ 1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
603MLH1NM_ 000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
604MLH1NM_ 000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
605MLH1NM_ 000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
606MLH1NM_ 000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
607MLH1NM_ 000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
608MLH1NM_ 000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
609MLH1NM_ 000249.3(MLH1): c.1772_ 1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
610MLH1NM_ 000249.3(MLH1): c.1778_ 1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
611MLH1NM_ 000249.3(MLH1): c.1783_ 1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
612MLH1NM_ 000249.3(MLH1): c.1790G> A (p.Trp597Ter)SNVPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
613MLH1NM_ 000249.3(MLH1): c.1800_ 1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
614MLH1NM_ 000249.3(MLH1): c.1810A> T (p.Lys604Ter)SNVPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
615MLH1NM_ 000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
616MLH1NM_ 000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
617MLH1NM_ 000249.3(MLH1): c.1829_ 1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
618MLH1NM_ 000249.3(MLH1): c.1831_ 1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
619MLH1NM_ 000249.3(MLH1): c.184C> T (p.Gln62Ter)SNVPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
620MLH1NM_ 000249.3(MLH1): c.1852A> T (p.Lys618Ter)SNVPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
621MLH1NM_ 000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
622MLH1NM_ 000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
623MLH1NM_ 000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
624MLH1NM_ 000249.3(MLH1): c.1875T> G (p.Tyr625Ter)SNVPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
625MLH1NM_ 000249.3(MLH1): c.1877_ 1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
626MLH1NM_ 000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
627MLH1NM_ 000249.3(MLH1): c.1880_ 1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
628MLH1NM_ 000249.3(MLH1): c.1884_ 1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
629MLH1NM_ 000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
630MLH1NM_ 000249.3(MLH1): c.1896G> A (p.Glu632=)SNVPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
631MLH1NM_ 000249.3(MLH1): c.1897-2A> GSNVLikely pathogenicrs267607871GRCh37Chr 3, 37090006: 37090006
632MLH1NM_ 000249.3(MLH1): c.1897-?_ 1989+?deldeletionPathogenic
633MLH1NM_ 000249.3(MLH1): c.189C> A (p.Asp63Glu)SNVPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
634MLH1NM_ 000249.3(MLH1): c.18_ 34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
635MLH1NM_ 000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
636MLH1NM_ 000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh37Chr 3, 37090015: 37090015
637MLH1NM_ 000249.3(MLH1): c.190_ 191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
638MLH1NM_ 000249.3(MLH1): c.1913_ 1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
639MLH1NM_ 000249.3(MLH1): c.1914_ 1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
640MLH1NM_ 000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
641MLH1NM_ 000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
642MLH1NM_ 000249.3(MLH1): c.1920_ 1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
643MLH1NM_ 000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
644MLH1NM_ 000249.3(MLH1): c.1943C> T (p.Pro648Leu)SNVPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
645MLH1NM_ 000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
646MLH1NM_ 000249.3(MLH1): c.1953_ 1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
647MLH1NM_ 000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
648MLH1NM_ 000249.3(MLH1): c.1961C> T (p.Pro654Leu)SNVPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
649MLH1NM_ 000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
650MLH1NM_ 000249.3(MLH1): c.1975C> T (p.Arg659Ter)SNVPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
651MLH1NM_ 000249.3(MLH1): c.1975_ 1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
652MLH1NM_ 000249.3(MLH1): c.1976G> C (p.Arg659Pro)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
653MLH1NM_ 000249.3(MLH1): c.1976G> T (p.Arg659Leu)SNVPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
654MLH1NM_ 000249.3(MLH1): c.1976_ 1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
655MLH1NM_ 000249.3(MLH1): c.1986_ 1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
656MLH1NM_ 000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
657MLH1NM_ 000249.3(MLH1): c.1989+1G> ASNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
658MLH1NM_ 000249.3(MLH1): c.1989+1G> TSNVPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
659MLH1NM_ 000249.3(MLH1): c.1989G> T (p.Glu663Asp)SNVPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
660MLH1NM_ 000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
661MLH1NM_ 000249.3(MLH1): c.1990-1G> ASNVPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
662MLH1NM_ 000249.3(MLH1): c.1990-2A> GSNVPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
663MLH1NM_ 000249.3(MLH1): c.1990-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
664MLH1NM_ 000249.3(MLH1): c.1998G> A (p.Trp666Ter)SNVPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
665MLH1NM_ 000249.3(MLH1): c.199G> A (p.Gly67Arg)SNVPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
666MLH1NM_ 000249.3(MLH1): c.19_ 35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
667MLH1NM_ 000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
668MLH1NM_ 000249.3(MLH1): c.2006_ 2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
669MLH1NM_ 000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
670MLH1NM_ 000249.3(MLH1): c.2011G> T (p.Glu671Ter)SNVPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
671MLH1NM_ 000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
672MLH1NM_ 000249.3(MLH1): c.2035G> T (p.Glu679Ter)SNVPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
673MLH1NM_ 000249.3(MLH1): c.2038T> C (p.Cys680Arg)SNVLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
674MLH1NM_ 000249.3(MLH1): c.2040C> A (p.Cys680Ter)SNVPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
675MLH1NM_ 000249.3(MLH1): c.2059C> T (p.Arg687Trp)SNVPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
676MLH1NM_ 000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
677MLH1NM_ 000249.3(MLH1): c.2067_ 2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
678MLH1NM_ 000249.3(MLH1): c.207+1245_ 884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
679MLH1NM_ 000249.3(MLH1): c.207+1560_ 546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
680MLH1NM_ 000249.3(MLH1): c.207+1G> ASNVLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
681MLH1NM_ 000249.3(MLH1): c.2076_ 2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
682MLH1NM_ 000249.3(MLH1): c.2078_ 2172del (p.Glu693Alafs*8)deletionPathogenic
683MLH1NM_ 000249.3(MLH1): c.208-1714_ 306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
684MLH1NM_ 000249.3(MLH1): c.208-1G> ASNVPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
685MLH1NM_ 000249.3(MLH1): c.208-1_ 208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
686MLH1NM_ 000249.3(MLH1): c.208-2A> GSNVPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
687MLH1NM_ 000249.3(MLH1): c.208-?_ 306+?deldeletionPathogenic
688MLH1NM_ 000249.3(MLH1): c.208-?_ 453+?deldeletionPathogenic
689MLH1NM_ 000249.3(MLH1): c.208-?_ 545+?deldeletionPathogenic
690MLH1NM_ 000249.3(MLH1): c.208-?_ 790+?deldeletionPathogenic
691MLH1NM_ 000249.3(MLH1): c.2084C> A (p.Ser695Ter)SNVPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
692MLH1NM_ 000249.3(MLH1): c.2092_ 2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
693MLH1NM_ 000249.3(MLH1): c.2093C> G (p.Ser698Ter)SNVPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
694MLH1NM_ 000249.3(MLH1): c.2099_ 2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
695MLH1NM_ 000249.3(MLH1): c.2101C> T (p.Gln701Ter)SNVPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
696MLH1NM_ 000249.3(MLH1): c.2103+1G> ASNVPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
697MLH1NM_ 000249.3(MLH1): c.2103G> C (p.Gln701His)SNVPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
698MLH1NM_ 000249.3(MLH1): c.2104-2A> TSNVPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
699MLH1NM_ 000249.3(MLH1): c.2104-?_ *(193_ ?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
700MLH1NM_ 000249.3(MLH1): c.2104_ 2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
701MLH1NM_ 000249.3(MLH1): c.2105_ 2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
702MLH1NM_ 000249.3(MLH1): c.210_ 213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
703MLH1NM_ 000249.3(MLH1): c.2111_ 2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
704MLH1NM_ 000249.3(MLH1): c.211G> T (p.Glu71Ter)SNVPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
705MLH1NM_ 000249.3(MLH1): c.2135G> A (p.Trp712Ter)SNVPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
706MLH1NM_ 000249.3(MLH1): c.2136G> A (p.Trp712Ter)SNVPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
707MLH1NM_ 000249.3(MLH1): c.213_ 215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
708MLH1NM_ 000249.3(MLH1): c.2141G> A (p.Trp714Ter)SNVPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
709MLH1NM_ 000249.3(MLH1): c.2147_ 2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
710MLH1NM_ 000249.3(MLH1): c.2149_ 2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
711MLH1NM_ 000249.3(MLH1): c.2154_ 2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
712MLH1NM_ 000249.3(MLH1): c.2154_ 2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
713MLH1NM_ 000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
714MLH1NM_ 000249.3(MLH1): c.2163T> A (p.Tyr721Ter)SNVPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
715MLH1NM_ 000249.3(MLH1): c.2179_ 2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
716MLH1NM_ 000249.3(MLH1): c.2181_ 2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
717MLH1NM_ 000249.3(MLH1): c.2194A> T (p.Lys732Ter)SNVPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
718MLH1NM_ 000249.3(MLH1): c.2195_ 2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
719MLH1NM_ 000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
720MLH1NM_ 000249.3(MLH1): c.2221_ 2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
721MLH1NM_ 000249.3(MLH1): c.2223_ 2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
722MLH1NM_ 000249.3(MLH1): c.2224C> T (p.Gln742Ter)SNVPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
723MLH1NM_ 000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
724MLH1NM_ 000249.3(MLH1): c.2246T> C (p.Leu749Pro)SNVPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
725MLH1NM_ 000249.3(MLH1): c.2266_ 2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
726MLH1NM_ 000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
727MLH1NM_ 000249.3(MLH1): c.229T> C (p.Cys77Arg)SNVPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
728MLH1NM_ 000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
729MLH1NM_ 000249.3(MLH1): c.230G> A (p.Cys77Tyr)SNVPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
730MLH1NM_ 000249.3(MLH1): c.231_ 232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
731MLH1NM_ 000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
732MLH1NM_ 000249.3(MLH1): c.238T> G (p.Phe80Val)SNVPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
733MLH1NM_ 000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
734MLH1NM_ 000249.3(MLH1): c.245C> T (p.Thr82Ile)SNVPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
735MLH1NM_ 000249.3(MLH1): c.256C> T (p.Gln86Ter)SNVPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
736MLH1NM_ 000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
737MLH1NM_ 000249.3(MLH1): c.265G> T (p.Glu89Ter)SNVPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
738MLH1NM_ 000249.3(MLH1): c.2T> A (p.Met1Lys)SNVPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
739MLH1NM_ 000249.3(MLH1): c.306+1G> ASNVPathogenicrs267607734GRCh37Chr 3, 37042545: 37042545
740MLH1NM_ 000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
741MLH1NM_ 000249.3(MLH1): c.306+5G> ASNVPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
742MLH1NM_ 000249.3(MLH1): c.306G> C (p.Glu102Asp)SNVPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
743MLH1NM_ 000249.3(MLH1): c.307-1420_ 380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
744MLH1NM_ 000249.3(MLH1): c.307-1G> CSNVLikely pathogenicrs267607736GRCh37Chr 3, 37045891: 37045891
745MLH1NM_ 000249.3(MLH1): c.307-245_ 454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
746MLH1NM_ 000249.3(MLH1): c.307-797_ 677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
747MLH1NM_ 000249.3(MLH1): c.307-820_ 380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
748MLH1NM_ 000249.3(MLH1): c.307-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37045892: 37092337
749MLH1NM_ 000249.3(MLH1): c.307-?_ 545+?deldeletionPathogenic
750MLH1NM_ 000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
751MLH1NM_ 000249.3(MLH1): c.320T> G (p.Ile107Arg)SNVPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
752MLH1NM_ 000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
753MLH1NM_ 000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
754MLH1NM_ 000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
755MLH1NM_ 000249.3(MLH1): c.354_ 355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
756MLH1NM_ 000249.3(MLH1): c.367A> T (p.Lys123Ter)SNVPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
757MLH1NM_ 000249.3(MLH1): c.372_ 373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
758MLH1NM_ 000249.3(MLH1): c.378C> G (p.Tyr126Ter)SNVPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
759MLH1NM_ 000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
760MLH1NM_ 000249.3(MLH1): c.37G> T (p.Glu13Ter)SNVPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
761MLH1NM_ 000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
762MLH1NM_ 000249.3(MLH1): c.380+1G> ASNVLikely pathogenicrs267607745GRCh37Chr 3, 37045966: 37045966
763MLH1NM_ 000249.3(MLH1): c.380+2T> ASNVPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
764MLH1NM_ 000249.3(MLH1): c.381-415_ 453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
765MLH1NM_ 000249.3(MLH1): c.381-?_ 545+?deldeletionPathogenic
766MLH1NM_ 000249.3(MLH1): c.382G> C (p.Ala128Pro)SNVPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
767MLH1NM_ 000249.3(MLH1): c.382_ 402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
768MLH1NM_ 000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
769MLH1NM_ 000249.3(MLH1): c.385_ 386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
770MLH1NM_ 000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
771MLH1NM_ 000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
772MLH1NM_ 000249.3(MLH1): c.38_ 39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
773MLH1NM_ 000249.3(MLH1): c.392C> A (p.Ser131Ter)SNVPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
774MLH1NM_ 000249.3(MLH1): c.397G> T (p.Gly133Ter)SNVPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
775MLH1NM_ 000249.3(MLH1): c.39_ 40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
776MLH1NM_ 000249.3(MLH1): c.404_ 407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
777MLH1NM_ 000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
778MLH1NM_ 000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
779MLH1NM_ 000249.3(MLH1): c.436C> T (p.Gln146Ter)SNVPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
780MLH1NM_ 000249.3(MLH1): c.445C> T (p.Gln149Ter)SNVPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
781MLH1NM_ 000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
782MLH1NM_ 000249.3(MLH1): c.453+2T> CSNVPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
783MLH1NM_ 000249.3(MLH1): c.454-432_ 546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
784MLH1NM_ 000249.3(MLH1): c.454-466_ 546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
785MLH1NM_ 000249.3(MLH1): c.454-505_ 546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
786MLH1NM_ 000249.3(MLH1): c.454-665_ 545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
787MLH1NM_ 000249.3(MLH1): c.454-?_ 545+?deldeletionPathogenic
788MLH1NM_ 000249.3(MLH1): c.464T> G (p.Leu155Arg)SNVPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
789MLH1NM_ 000249.3(MLH1): c.468_ 469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
790MLH1NM_ 000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
791MLH1NM_ 000249.3(MLH1): c.497T> A (p.Leu166Ter)SNVPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
792MLH1NM_ 000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
793MLH1NM_ 000249.3(MLH1): c.502_ 503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
794MLH1NM_ 000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
795MLH1NM_ 000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
796MLH1NM_ 000249.3(MLH1): c.524_ 525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
797MLH1NM_ 000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
798MLH1NM_ 000249.3(MLH1): c.531_ 532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
799MLH1NM_ 000249.3(MLH1): c.531_ 532delGGinsCT (p.Leu177_ Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
800MLH1NM_ 000249.3(MLH1): c.544A> G (p.Arg182Gly)SNVPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
801MLH1NM_ 000249.3(MLH1): c.545+1G> ASNVLikely pathogenicrs267607765GRCh37Chr 3, 37050397: 37050397
802MLH1NM_ 000249.3(MLH1): c.545+3A> GSNVPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
803MLH1NM_ 000249.3(MLH1): c.545G> A (p.Arg182Lys)SNVPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
804MLH1NM_ 000249.3(MLH1): c.546-1G> ASNVLikely pathogenicrs587779022GRCh37Chr 3, 37053310: 37053310
805MLH1NM_ 000249.3(MLH1): c.546-2A> CSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
806MLH1NM_ 000249.3(MLH1): c.546-2A> GSNVPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
807MLH1NM_ 000249.3(MLH1): c.546-361_ 885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
808MLH1NM_ 000249.3(MLH1): c.546-?_ 1409+?dupduplicationPathogenic
809MLH1NM_ 000249.3(MLH1): c.546-?_ 677+?deldeletionPathogenic
810MLH1NM_ 000249.3(MLH1): c.546-?_ 790+?deldeletionPathogenic
811MLH1NM_ 000249.3(MLH1): c.554T> G (p.Val185Gly)SNVPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
812MLH1NM_ 000249.3(MLH1): c.578C> G (p.Ser193Ter)SNVPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
813MLH1NM_ 000249.3(MLH1): c.586A> T (p.Lys196Ter)SNVPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
814MLH1NM_ 000249.3(MLH1): c.588+1G> TSNVPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
815MLH1NM_ 000249.3(MLH1): c.588+5G> ASNVPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
816MLH1NM_ 000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
817MLH1NM_ 000249.3(MLH1): c.589-2A> GSNVPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
818MLH1NM_ 000249.3(MLH1): c.597_ 598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
819MLH1NM_ 000249.3(MLH1): c.5C> A (p.Ser2Ter)SNVPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
820MLH1NM_ 000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
821MLH1NM_ 000249.3(MLH1): c.62C> A (p.Ala21Glu)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
822MLH1NM_ 000249.3(MLH1): c.62C> T (p.Ala21Val)SNVPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
823MLH1NM_ 000249.3(MLH1): c.632_ 633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
824MLH1NM_ 000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
825MLH1NM_ 000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
826MLH1NM_ 000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
827MLH1NM_ 000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
828MLH1NM_ 000249.3(MLH1): c.673_ 676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
829MLH1NM_ 000249.3(MLH1): c.677+1G> TSNVPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
830MLH1NM_ 000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
831MLH1NM_ 000249.3(MLH1): c.677+3A> GSNVPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
832MLH1NM_ 000249.3(MLH1): c.677G> A (p.Arg226Gln)SNVPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
833MLH1NM_ 000249.3(MLH1): c.677G> T (p.Arg226Leu)SNVLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
834MLH1NM_ 000249.3(MLH1): c.677_ 677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
835MLH1NM_ 000249.3(MLH1): c.678-1G> CSNVPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
836MLH1NM_ 000249.3(MLH1): c.678-3_ 678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
837MLH1NM_ 000249.3(MLH1): c.678-9_ 693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
838MLH1NM_ 000249.3(MLH1): c.678-?_ 1558+?deldeletionPathogenic
839MLH1NM_ 000249.3(MLH1): c.678-?_ 884+?deldeletionPathogenic
840MLH1NM_ 000249.3(MLH1): c.67G> T (p.Glu23Ter)SNVPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
841MLH1NM_ 000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
842MLH1NM_ 000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
843MLH1NM_ 000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
844MLH1NM_ 000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
845MLH1NM_ 000249.3(MLH1): c.727_ 730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
846MLH1NM_ 000249.3(MLH1): c.731G> A (p.Gly244Asp)SNVPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
847MLH1NM_ 000249.3(MLH1): c.731_ 734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
848MLH1NM_ 000249.3(MLH1): c.739T> C (p.Ser247Pro)SNVPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
849MLH1NM_ 000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
850MLH1NM_ 000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
851MLH1NM_ 000249.3(MLH1): c.76C> T (p.Gln26Ter)SNVPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
852MLH1NM_ 000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
853MLH1NM_ 000249.3(MLH1): c.779T> G (p.Leu260Arg)SNVPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
854MLH1NM_ 000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
855MLH1NM_ 000249.3(MLH1): c.790+1G> ASNVPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
856MLH1NM_ 000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
857MLH1NM_ 000249.3(MLH1): c.790+2T> CSNVPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
858MLH1NM_ 000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
859MLH1NM_ 000249.3(MLH1): c.791-1G> CSNVPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
860MLH1NM_ 000249.3(MLH1): c.791-2A> GSNVLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
861MLH1NM_ 000249.3(MLH1): c.791-4_ 795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
862MLH1NM_ 000249.3(MLH1): c.791-5T> GSNVPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
863MLH1NM_ 000249.3(MLH1): c.791-?_ 1558+?deldeletionPathogenic
864MLH1NM_ 000249.3(MLH1): c.791-?_ 884+?deldeletionPathogenic
865MLH1NM_ 000249.3(MLH1): c.791_ 794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
866MLH1NM_ 000249.3(MLH1): c.793C> A (p.Arg265Ser)SNVLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
867MLH1NM_ 000249.3(MLH1): c.808_ 811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
868MLH1NM_ 000249.3(MLH1): c.811_ 815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
869MLH1NM_ 000249.3(MLH1): c.821_ 824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
870MLH1NM_ 000249.3(MLH1): c.83C> T (p.Pro28Leu)SNVPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
871MLH1NM_ 000249.3(MLH1): c.840T> A (p.Tyr280Ter)SNVPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
872MLH1NM_ 000249.3(MLH1): c.842C> T (p.Ala281Val)SNVPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
873MLH1NM_ 000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
874MLH1NM_ 000249.3(MLH1): c.851T> A (p.Leu284Ter)SNVPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
875MLH1NM_ 000249.3(MLH1): c.856_ 857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
876MLH1NM_ 000249.3(MLH1): c.859_ 860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
877MLH1NM_ 000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
878MLH1NM_ 000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
879MLH1NM_ 000249.3(MLH1): c.866_ 867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
880MLH1NM_ 000249.3(MLH1): c.866_ 867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
881MLH1NM_ 000249.3(MLH1): c.86C> G (p.Ala29Gly)SNVPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
882MLH1NM_ 000249.3(MLH1): c.882C> T (p.Leu294=)SNVPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
883MLH1NM_ 000249.3(MLH1): c.883A> C (p.Ser295Arg)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
884MLH1NM_ 000249.3(MLH1): c.883A> G (p.Ser295Gly)SNVPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
885MLH1NM_ 000249.3(MLH1): c.884+4A> GSNVPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
886MLH1NM_ 000249.3(MLH1): c.884G> A (p.Ser295Asn)SNVPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
887MLH1NM_ 000249.3(MLH1): c.884_ 884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
888MLH1NM_ 000249.3(MLH1): c.885-206_ 997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
889MLH1NM_ 000249.3(MLH1): c.885-493_ 1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
890MLH1NM_ 000249.3(MLH1): c.885-594_ 1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
891MLH1NM_ 000249.3(MLH1): c.885-?_ (*193_ ?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
892MLH1NM_ 000249.3(MLH1): c.885-?_ 1038+?deldeletionPathogenic
893MLH1NM_ 000249.3(MLH1): c.885-?_ 1731+?deldeletionPathogenic
894MLH1NM_ 000249.3(MLH1): c.887T> G (p.Leu296Ter)SNVPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
895MLH1NM_ 000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
896MLH1NM_ 000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
897MLH1NM_ 000249.3(MLH1): c.889G> T (p.Glu297Ter)SNVPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
898MLH1NM_ 000249.3(MLH1): c.901C> T (p.Gln301Ter)SNVPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
899MLH1NM_ 000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
900MLH1NM_ 000249.3(MLH1): c.921_ 922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
901MLH1NM_ 000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
902MLH1NM_ 000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
903MLH1NM_ 000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
904MLH1NM_ 000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
905MLH1NM_ 000249.3(MLH1): c.955G> T (p.Glu319Ter)SNVPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
906MLH1NM_ 000249.3(MLH1): c.982C> T (p.Gln328Ter)SNVPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
907MLH1NM_ 000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
908MLH1NM_ 000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
909MSH2NM_ 000251.1(MSH2): c.(?_ -68)_ (*272_ ?)deldeletionPathogenic
910MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
911MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
912MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
913MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
914MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
915MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
916MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
917MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
918MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
919MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
920MSH2NM_ 000251.2(MSH2): c.(?_ -68)_ 942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
921MSH2NM_ 000251.1(MSH2): c.-11844_ 1077-6021delins155indelPathogenic
922MSH2NM_ 000251.1(MSH2): c.-1753_ 645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
923MSH2NM_ 000251.1(MSH2): c.-35298_ 1276+5697deldeletionPathogenic
924MSH2NM_ 000251.1(MSH2): c.-47156_ 1277-4980deldeletionPathogenic
925MSH2NM_ 000251.1(MSH2): c.-4729_ 367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
926MSH2NM_ 000251.1(MSH2): c.-75398_ 1759+1708deldeletionPathogenic
927MSH2NM_ 000251.1(MSH2): c.-823_ 1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
928MSH2NM_ 000251.1(MSH2): c.-956_ 1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
929MSH2NM_ 000251.2(MSH2): c.1000A> T (p.Lys334Ter)SNVPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
930MSH2NM_ 000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
931MSH2NM_ 000251.2(MSH2): c.1009C> T (p.Gln337Ter)SNVPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
932MSH2NM_ 000251.2(MSH2): c.1013G> A (p.Gly338Glu)SNVPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
933MSH2NM_ 000251.2(MSH2): c.1017_ 1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
934MSH2NM_ 000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
935MSH2NM_ 000251.2(MSH2): c.1034G> A (p.Trp345Ter)SNVPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
936MSH2NM_ 000251.2(MSH2): c.1035G> A (p.Trp345Ter)SNVPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
937MSH2NM_ 000251.2(MSH2): c.1037_ 1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
938MSH2NM_ 000251.2(MSH2): c.1046C> T (p.Pro349Leu)SNVPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
939MSH2NM_ 000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
940MSH2NM_ 000251.2(MSH2): c.1075A> T (p.Arg359Ter)SNVPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
941MSH2NM_ 000251.2(MSH2): c.1076+1G> ASNVPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
942MSH2NM_ 000251.2(MSH2): c.1077-135_ 1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
943MSH2NM_ 000251.2(MSH2): c.1077-220_ 1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
944MSH2NM_ 000251.2(MSH2): c.1077-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
945MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?deldeletionPathogenic
946MSH2NM_ 000251.2(MSH2): c.1077-?_ 1276+?dup200duplicationPathogenic
947MSH2NM_ 000251.2(MSH2): c.1077-?_ 1386+?deldeletionPathogenic
948MSH2NM_ 000251.2(MSH2): c.1077-?_ 1661+?deldeletionPathogenic
949MSH2NM_ 000251.2(MSH2): c.1077-?_ 2005+?deldeletionPathogenic
950MSH2NM_ 000251.2(MSH2): c.1077A> T (p.Arg359Ser)SNVPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
951MSH2NM_ 000251.2(MSH2): c.1077_ 1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
952MSH2NM_ 000251.2(MSH2): c.1097_ 1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
953MSH2NM_ 000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
954MSH2NM_ 000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
955MSH2NM_ 000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
956MSH2NM_ 000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
957MSH2NM_ 000251.2(MSH2): c.1120C> T (p.Gln374Ter)SNVPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
958MSH2NM_ 000251.2(MSH2): c.1127_ 1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
959MSH2NM_ 000251.2(MSH2): c.1129C> T (p.Gln377Ter)SNVPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
960MSH2NM_ 000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
961MSH2NM_ 000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
962MSH2NM_ 000251.2(MSH2): c.1147C> T (p.Arg383Ter)SNVPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
963MSH2NM_ 000251.2(MSH2): c.1165C> T (p.Arg389Ter)SNVPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
964MSH2NM_ 000251.2(MSH2): c.1183C> T (p.Gln395Ter)SNVPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
965MSH2NM_ 000251.2(MSH2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
966MSH2NM_ 000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
967MSH2NM_ 000251.2(MSH2): c.1196_ 1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
968MSH2NM_ 000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
969MSH2NM_ 000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
970MSH2NM_ 000251.2(MSH2): c.1204C> T (p.Gln402Ter)SNVPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
971MSH2NM_ 000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
972MSH2NM_ 000251.2(MSH2): c.1215C> A (p.Tyr405Ter)SNVPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
973MSH2NM_ 000251.2(MSH2): c.1216_ 1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
974MSH2NM_ 000251.2(MSH2): c.1221_ 1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
975MSH2NM_ 000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
976MSH2NM_ 000251.2(MSH2): c.1226_ 1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
977MSH2NM_ 000251.2(MSH2): c.1243_ 1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
978MSH2NM_ 000251.2(MSH2): c.1249_ 1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
979MSH2NM_ 000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
980MSH2NM_ 000251.2(MSH2): c.1255C> T (p.Gln419Ter)SNVPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
981MSH2NM_ 000251.2(MSH2): c.1264G> T (p.Glu422Ter)SNVPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
982MSH2NM_ 000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
983MSH2NM_ 000251.2(MSH2): c.1276+1G> ASNVPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
984MSH2NM_ 000251.1(MSH2): c.1276+232_ 1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
985MSH2NM_ 000251.2(MSH2): c.1277-2A> GSNVPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
986MSH2NM_ 000251.2(MSH2): c.1277-572_ 1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
987MSH2NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
988MSH2NM_ 000251.2(MSH2): c.1277-?_ *(272_ ?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
989MSH2NM_ 000251.2(MSH2): c.1277-?_ 1386+?deldeletionPathogenic
990MSH2NM_ 000251.2(MSH2): c.1277-?_ 1661+?deldeletionPathogenic
991MSH2NM_ 000251.2(MSH2): c.1277-?_ 1759+?deldeletionPathogenic
992MSH2NM_ 000251.2(MSH2): c.1277-?_ 2634+?deldeletionPathogenic
993MSH2NM_ 000251.2(MSH2): c.1285C> T (p.Gln429Ter)SNVPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
994MSH2NM_ 000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
995MSH2NM_ 000251.2(MSH2): c.1288A> T (p.Lys430Ter)SNVPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
996MSH2NM_ 000251.2(MSH2): c.1292T> A (p.Leu431Ter)SNVPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
997MSH2NM_ 000251.2(MSH2): c.129T> G (p.Tyr43Ter)SNVPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
998MSH2NM_ 000251.2(MSH2): c.1311_ 1334del24insNM_ 000251.1: c.1338_ 1361inv24 (p.Thr438_ Ser445delinsPheSerLysPheGlnGluMetIle)indelPathogenicGRCh37Chr 2, 47672721: 47672744
999MSH2NM_ 000251.2(MSH2): c.1318_ 1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
1000MSH2NM_ 000251.2(MSH2): c.1319T> C (p.Leu440Pro)SNVPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
1001MSH2NM_ 000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
1002MSH2NM_ 000251.2(MSH2): c.1340_ 1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
1003MSH2NM_ 000251.2(MSH2): c.1345A> T (p.Lys449Ter)SNVPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
1004MSH2NM_ 000251.2(MSH2): c.1345_ 1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
1005MSH2NM_ 000251.2(MSH2): c.1352_ 1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
1006MSH2NM_ 000251.2(MSH2): c.1354G> T (p.Glu452Ter)SNVPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
1007MSH2NM_ 000251.2(MSH2): c.1358T> A (p.Met453Lys)SNVPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
1008MSH2NM_ 000251.2(MSH2): c.136_ 164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
1009MSH2NM_ 000251.2(MSH2): c.1373T> G (p.Leu458Ter)SNVPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
1010MSH2NM_ 000251.2(MSH2): c.1386+1G> ASNVLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
1011MSH2NM_ 000251.1(MSH2): c.1387-3976_ 1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
1012MSH2NM_ 000251.2(MSH2): c.1387-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
1013MSH2NM_ 000251.2(MSH2): c.1387-?_ 1510+?deldeletionPathogenic
1014MSH2NM_ 000251.2(MSH2): c.1387-?_ 1661+?deldeletionPathogenic
1015MSH2NM_ 000251.2(MSH2): c.1387-?_ 1661+?dup275duplicationPathogenic
1016MSH2NM_ 000251.2(MSH2): c.1387-?_ 2458+?deldeletionPathogenic
1017MSH2NM_ 000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
1018MSH2NM_ 000251.2(MSH2): c.1399G> T (p.Glu467Ter)SNVPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
1019MSH2NM_ 000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
1020MSH2NM_ 000251.2(MSH2): c.1418C> G (p.Ser473Ter)SNVPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
1021MSH2NM_ 000251.2(MSH2): c.142G> T (p.Glu48Ter)SNVPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
1022MSH2NM_ 000251.2(MSH2): c.1433_ 1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
1023MSH2NM_ 000251.2(MSH2): c.1444A> T (p.Arg482Ter)SNVPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
1024MSH2NM_ 000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
1025MSH2NM_ 000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
1026MSH2NM_ 000251.2(MSH2): c.1445_ 1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
1027MSH2NM_ 000251.2(MSH2): c.1447G> T (p.Glu483Ter)SNVPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
1028MSH2NM_ 000251.2(MSH2): c.1447_ 1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
1029MSH2NM_ 000251.2(MSH2): c.1457_ 1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
1030MSH2NM_ 000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
1031MSH2NM_ 000251.2(MSH2): c.145_ 146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
1032MSH2NM_ 000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
1033MSH2NM_ 000251.2(MSH2): c.1476_ 1477delGCinsCT (p.Met492_ Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
1034MSH2NM_ 000251.2(MSH2): c.1477C> T (p.Gln493Ter)SNVPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
1035MSH2NM_ 000251.2(MSH2): c.1487T> A (p.Leu496Ter)SNVPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
1036MSH2NM_ 000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
1037MSH2NM_ 000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
1038MSH2NM_ 000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
1039MSH2NM_ 000251.2(MSH2): c.1511-2A> GSNVPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
1040MSH2NM_ 000251.2(MSH2): c.1511-?_ 2005+?deldeletionPathogenic
1041MSH2NM_ 000251.2(MSH2): c.1528C> T (p.Gln510Ter)SNVPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
1042MSH2NM_ 000251.2(MSH2): c.154_ 155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
1043MSH2NM_ 000251.2(MSH2): c.1552C> T (p.Gln518Ter)SNVPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
1044MSH2NM_ 000251.2(MSH2): c.1552_ 1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
1045MSH2NM_ 000251.2(MSH2): c.1566C> G (p.Tyr522Ter)SNVPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
1046MSH2NM_ 000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
1047MSH2NM_ 000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
1048MSH2NM_ 000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
1049MSH2NM_ 000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
1050MSH2NM_ 000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
1051MSH2NM_ 000251.2(MSH2): c.1638_ 1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh38Chr 2, 47466785: 47466786
1052MSH2NM_ 000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
1053MSH2NM_ 000251.2(MSH2): c.1660A> G (p.Ser554Gly)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1054MSH2NM_ 000251.2(MSH2): c.1660A> T (p.Ser554Cys)SNVPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
1055MSH2NM_ 000251.2(MSH2): c.1661+1G> ASNVLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
1056MSH2NM_ 000251.2(MSH2): c.1661G> C (p.Ser554Thr)SNVPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
1057MSH2NM_ 000251.2(MSH2): c.1662-1G> ASNVPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
1058MSH2NM_ 000251.1(MSH2): c.1662-374_ 2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
1059MSH2NM_ 000251.2(MSH2): c.1662-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
1060MSH2NM_ 000251.2(MSH2): c.1662-?_ 1759+?deldeletionPathogenic
1061MSH2NM_ 000251.2(MSH2): c.1662-?_ 2458+?deldeletionPathogenic
1062MSH2NM_ 000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
1063MSH2NM_ 000251.2(MSH2): c.1667_ 1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
1064MSH2NM_ 000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
1065MSH2NM_ 000251.2(MSH2): c.166G> T (p.Glu56Ter)SNVPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
1066MSH2NM_ 000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
1067MSH2NM_ 000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
1068MSH2NM_ 000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
1069MSH2NM_ 000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
1070MSH2NM_ 000251.2(MSH2): c.1693A> T (p.Lys565Ter)SNVPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
1071MSH2NM_ 000251.2(MSH2): c.1696_ 1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
1072MSH2NM_ 000251.2(MSH2): c.1699A> T (p.Lys567Ter)SNVPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
1073MSH2NM_ 000251.2(MSH2): c.1700_ 1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
1074MSH2NM_ 000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
1075MSH2NM_ 000251.2(MSH2): c.1705_ 1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
1076MSH2NM_ 000251.2(MSH2): c.1705_ 1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
1077MSH2NM_ 000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
1078MSH2NM_ 000251.2(MSH2): c.1720C> T (p.Gln574Ter)SNVPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
1079MSH2NM_ 000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
1080MSH2NM_ 000251.2(MSH2): c.1738G> T (p.Glu580Ter)SNVPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
1081MSH2NM_ 000251.2(MSH2): c.1759+2T> ASNVPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
1082MSH2NM_ 000251.1(MSH2): c.1759+305_ 2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
1083MSH2NM_ 000251.2(MSH2): c.1759G> C (p.Gly587Arg)SNVPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
1084MSH2NM_ 000251.1(MSH2): c.1760-361_ 2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
1085MSH2NM_ 000251.2(MSH2): c.1760-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
1086MSH2NM_ 000251.2(MSH2): c.1760-?_ 2005+?deldeletionPathogenic
1087MSH2NM_ 000251.2(MSH2): c.1760-?_ 2210+?deldeletionPathogenic
1088MSH2NM_ 000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
1089MSH2NM_ 000251.2(MSH2): c.1764T> G (p.Tyr588Ter)SNVPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
1090MSH2NM_ 000251.2(MSH2): c.1771_ 1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
1091MSH2NM_ 000251.2(MSH2): c.1777C> T (p.Gln593Ter)SNVPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
1092MSH2NM_ 000251.2(MSH2): c.1779_ 1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
1093MSH2NM_ 000251.2(MSH2): c.1781_ 1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
1094MSH2NM_ 000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
1095MSH2NM_ 000251.2(MSH2): c.1788_ 1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
1096MSH2NM_ 000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
1097MSH2NM_ 000251.2(MSH2): c.181C> T (p.Gln61Ter)SNVPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
1098MSH2NM_ 000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
1099MSH2NM_ 000251.2(MSH2): c.1835C> G (p.Ser612Ter)SNVPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
1100MSH2NM_ 000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
1101MSH2NM_ 000251.2(MSH2): c.1857T> G (p.Tyr619Ter)SNVPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
1102MSH2NM_ 000251.2(MSH2): c.1858_ 1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
1103MSH2NM_ 000251.2(MSH2): c.1861C> T (p.Arg621Ter)SNVPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
1104MSH2NM_ 000251.2(MSH2): c.186_ 187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
1105MSH2NM_ 000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
1106MSH2NM_ 000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
1107MSH2NM_ 000251.2(MSH2): c.1885C> T (p.Gln629Ter)SNVPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
1108MSH2NM_ 000251.2(MSH2): c.1889_ 1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
1109MSH2NM_ 000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
1110MSH2NM_ 000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
1111MSH2NM_ 000251.2(MSH2): c.1924_ 1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
1112MSH2NM_ 000251.2(MSH2): c.1967_ 1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
1113MSH2NM_ 000251.2(MSH2): c.1968C> G (p.Tyr656Ter)SNVPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
1114MSH2NM_ 000251.2(MSH2): c.1980_ 1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1115MSH2NM_ 000251.2(MSH2): c.1982_ 1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1116MSH2NM_ 000251.2(MSH2): c.1984_ 1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1117MSH2NM_ 000251.2(MSH2): c.1986_ 1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1118MSH2NM_ 000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1119MSH2NM_ 000251.2(MSH2): c.1996_ 1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1120MSH2NM_ 000251.2(MSH2): c.2005+1G> ASNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1121MSH2NM_ 000251.2(MSH2): c.2005+1G> TSNVLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1122MSH2NM_ 000251.2(MSH2): c.2005+2T> CSNVPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1123MSH2NM_ 000251.2(MSH2): c.2006-?_ 2210+?deldeletionPathogenic
1124MSH2NM_ 000251.2(MSH2): c.2006G> T (p.Gly669Val)SNVPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1125MSH2NM_ 000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1126MSH2NM_ 000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1127MSH2NM_ 000251.2(MSH2): c.2021_ 2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1128MSH2NM_ 000251.2(MSH2): c.2035_ 2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1129MSH2NM_ 000251.2(MSH2): c.2046_ 2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1130MSH2NM_ 000251.2(MSH2): c.2047G> A (p.Gly683Arg)SNVPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1131MSH2NM_ 000251.2(MSH2): c.2048_ 2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1132MSH2NM_ 000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1133MSH2NM_ 000251.2(MSH2): c.2063T> G (p.Met688Arg)SNVPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1134MSH2NM_ 000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1135MSH2NM_ 000251.2(MSH2): c.2074_ 2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1136MSH2NM_ 000251.2(MSH2): c.2087C> T (p.Pro696Leu)SNVPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1137MSH2NM_ 000251.2(MSH2): c.2089T> C (p.Cys697Arg)SNVPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1138MSH2NM_ 000251.2(MSH2): c.2090G> T (p.Cys697Phe)SNVPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1139MSH2NM_ 000251.2(MSH2): c.2091T> A (p.Cys697Ter)SNVPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1140MSH2NM_ 000251.2(MSH2): c.2096C> G (p.Ser699Ter)SNVPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1141MSH2NM_ 000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1142MSH2NM_ 000251.1(MSH2): c.211+1566_ 1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1143MSH2NM_ 000251.2(MSH2): c.212-1G> ASNVPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1144MSH2NM_ 000251.2(MSH2): c.212-478T> GSNVPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1145MSH2NM_ 000251.2(MSH2): c.212-?_ 1076+?deldeletionPathogenic
1146MSH2NM_ 000251.2(MSH2): c.212-?_ 1276+?deldeletionPathogenic
1147MSH2NM_ 000251.2(MSH2): c.212-?_ 1386+?deldeletionPathogenic
1148MSH2NM_ 000251.2(MSH2): c.212-?_ 1510+?deldeletionPathogenic
1149MSH2NM_ 000251.2(MSH2): c.212-?_ 2458+?deldeletionPathogenic
1150MSH2NM_ 000251.2(MSH2): c.212-?_ 366+?deldeletionPathogenic
1151MSH2NM_ 000251.2(MSH2): c.212-?_ 645+?deldeletionPathogenic
1152MSH2NM_ 000251.2(MSH2): c.2131C> T (p.Arg711Ter)SNVPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1153MSH2NM_ 000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1154MSH2NM_ 000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1155MSH2NM_ 000251.2(MSH2): c.2152C> T (p.Gln718Ter)SNVPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1156MSH2NM_ 000251.2(MSH2): c.2160_ 2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1157MSH2NM_ 000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1158MSH2NM_ 000251.2(MSH2): c.2191G> T (p.Glu731Ter)SNVPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1159MSH2NM_ 000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1160MSH2NM_ 000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1161MSH2NM_ 000251.1(MSH2): c.2210+116_ 2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1162MSH2NM_ 000251.2(MSH2): c.2211-?_ 2458+?deldeletionPathogenic
1163MSH2NM_ 000251.2(MSH2): c.2228C> A (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1164MSH2NM_ 000251.2(MSH2): c.2228C> G (p.Ser743Ter)SNVPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1165MSH2NM_ 000251.2(MSH2): c.2228_ 2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1166MSH2NM_ 000251.2(MSH2): c.2231T> G (p.Leu744Ter)SNVPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1167MSH2NM_ 000251.2(MSH2): c.2237_ 2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1168MSH2NM_ 000251.2(MSH2): c.223_ 224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1169MSH2NM_ 000251.2(MSH2): c.2240_ 2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1170MSH2NM_ 000251.2(MSH2): c.2251G> A (p.Gly751Arg)SNVPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1171MSH2NM_ 000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1172MSH2NM_ 000251.2(MSH2): c.226C> T (p.Gln76Ter)SNVPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1173MSH2NM_ 000251.2(MSH2): c.2275G> T (p.Gly759Ter)SNVPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1174MSH2NM_ 000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1175MSH2NM_ 000251.2(MSH2): c.2291G> A (p.Trp764Ter)SNVPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1176MSH2NM_ 000251.2(MSH2): c.2292G> A (p.Trp764Ter)SNVPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1177MSH2NM_ 000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1178MSH2NM_ 000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1179MSH2NM_ 000251.2(MSH2): c.229_ 230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1180MSH2NM_ 000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1181MSH2NM_ 000251.2(MSH2): c.2334C> A (p.Cys778Ter)SNVPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1182MSH2NM_ 000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1183MSH2NM_ 000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1184MSH2NM_ 000251.2(MSH2): c.2360_ 2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1185MSH2NM_ 000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1186MSH2NM_ 000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1187MSH2NM_ 000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1188MSH2NM_ 000251.2(MSH2): c.2408_ 2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1189MSH2NM_ 000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1190MSH2NM_ 000251.2(MSH2): c.2422G> T (p.Glu808Ter)SNVPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1191MSH2NM_ 000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1192MSH2NM_ 000251.2(MSH2): c.2432T> G (p.Leu811Ter)SNVPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1193MSH2NM_ 000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1194MSH2NM_ 000251.2(MSH2): c.2446C> T (p.Gln816Ter)SNVPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1195MSH2NM_ 000251.2(MSH2): c.244A> T (p.Lys82Ter)SNVPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1196MSH2NM_ 000251.2(MSH2): c.2458+1G> ASNVLikely pathogenicrs267608010GRCh37Chr 2, 47705659: 47705659
1197MSH2NM_ 000251.2(MSH2): c.2459-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1198MSH2NM_ 000251.2(MSH2): c.2459-?_ 2634+?deldeletionPathogenic
1199MSH2NM_ 000251.2(MSH2): c.2466_ 2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1200MSH2NM_ 000251.2(MSH2): c.2470C> T (p.Gln824Ter)SNVPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1201MSH2NM_ 000251.2(MSH2): c.2485_ 2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1202MSH2NM_ 000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1203MSH2NM_ 000251.2(MSH2): c.2502_ 2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1204MSH2NM_ 000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1205MSH2NM_ 000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1206MSH2NM_ 000251.2(MSH2): c.2525_ 2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1207MSH2NM_ 000251.2(MSH2): c.2529_ 2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1208MSH2NM_ 000251.2(MSH2): c.2536C> T (p.Gln846Ter)SNVPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1209MSH2NM_ 000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1210MSH2NM_ 000251.2(MSH2): c.255_ 256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1211MSH2NM_ 000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1212MSH2NM_ 000251.2(MSH2): c.2575G> T (p.Glu859Ter)SNVPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1213MSH2NM_ 000251.2(MSH2): c.2579C> A (p.Ser860Ter)SNVPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1214MSH2NM_ 000251.2(MSH2): c.2581C> T (p.Gln861Ter)SNVPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1215MSH2NM_ 000251.2(MSH2): c.2593_ 2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1216MSH2NM_ 000251.2(MSH2): c.2620_ 2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1217MSH2NM_ 000251.2(MSH2): c.2622T> A (p.Tyr874Ter)SNVPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1218MSH2NM_ 000251.2(MSH2): c.2633_ 2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1219MSH2NM_ 000251.2(MSH2): c.2634+5G> CSNVPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1220MSH2NM_ 000251.2(MSH2): c.2634G> A (p.Glu878=)SNVPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1221MSH2NM_ 000251.2(MSH2): c.2635-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47709918: 47710360
1222MSH2NM_ 000251.2(MSH2): c.2635C> T (p.Gln879Ter)SNVPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1223MSH2NM_ 000251.2(MSH2): c.263_ 264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1224MSH2NM_ 000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1225MSH2NM_ 000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1226MSH2NM_ 000251.2(MSH2): c.2653C> T (p.Gln885Ter)SNVPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1227MSH2NM_ 000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1228MSH2NM_ 000251.2(MSH2): c.2740G> T (p.Glu914Ter)SNVPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1229MSH2NM_ 000251.2(MSH2): c.2785C> T (p.Arg929Ter)SNVPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1230MSH2NM_ 000251.2(MSH2): c.278_ 279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1231MSH2NM_ 000251.2(MSH2): c.289C> T (p.Gln97Ter)SNVPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1232MSH2NM_ 000251.2(MSH2): c.28C> T (p.Gln10Ter)SNVPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1233MSH2NM_ 000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1234MSH2NM_ 000251.2(MSH2): c.301G> T (p.Glu101Ter)SNVPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1235MSH2NM_ 000251.2(MSH2): c.301_ 306delGAAGTT (p.Glu101_ Val102del)deletionLikely pathogenicrs587779157GRCh37Chr 2, 47635629: 47635634
1236MSH2NM_ 000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1237MSH2NM_ 000251.2(MSH2): c.347_ 350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1238MSH2NM_ 000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1239MSH2NM_ 000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1240MSH2NM_ 000251.2(MSH2): c.363T> G (p.Tyr121Ter)SNVPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1241MSH2NM_ 000251.1(MSH2): c.367-371_ 646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1242MSH2NM_ 000251.1(MSH2): c.367-452_ 646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1243MSH2NM_ 000251.2(MSH2): c.367-480_ 645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1244MSH2NM_ 000251.1(MSH2): c.367-681_ 646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1245MSH2NM_ 000251.2(MSH2): c.367-?_ 1076+?deldeletionPathogenic
1246MSH2NM_ 000251.2(MSH2): c.367-?_ 1276+?deldeletionPathogenic
1247MSH2NM_ 000251.2(MSH2): c.367-?_ 1386+?deldeletionPathogenic
1248MSH2NM_ 000251.2(MSH2): c.367-?_ 1759+?deldeletionPathogenic
1249MSH2NM_ 000251.2(MSH2): c.367-?_ 645+?deldeletionPathogenic
1250MSH2NM_ 000251.2(MSH2): c.367-?_ 942+?deldeletionPathogenic
1251MSH2NM_ 000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1252MSH2NM_ 000251.2(MSH2): c.380_ 381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1253MSH2NM_ 000251.2(MSH2): c.387_ 388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1254MSH2NM_ 000251.2(MSH2): c.388_ 389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1255MSH2NM_ 000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1256MSH2NM_ 000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1257MSH2NM_ 000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1258MSH2NM_ 000251.2(MSH2): c.425C> G (p.Ser142Ter)SNVPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1259MSH2NM_ 000251.2(MSH2): c.472C> T (p.Gln158Ter)SNVPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1260MSH2NM_ 000251.2(MSH2): c.478C> T (p.Gln160Ter)SNVPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1261MSH2NM_ 000251.2(MSH2): c.484G> A (p.Gly162Arg)SNVPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1262MSH2NM_ 000251.2(MSH2): c.488T> A (p.Val163Asp)SNVPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1263MSH2NM_ 000251.2(MSH2): c.490G> A (p.Gly164Arg)SNVPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1264MSH2NM_ 000251.2(MSH2): c.506_ 509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1265MSH2NM_ 000251.2(MSH2): c.508C> T (p.Gln170Ter)SNVPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1266MSH2NM_ 000251.2(MSH2): c.511_ 583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1267MSH2NM_ 000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1268MSH2NM_ 000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1269MSH2NM_ 000251.2(MSH2): c.528_ 529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1270MSH2NM_ 000251.2(MSH2): c.529G> T (p.Glu177Ter)SNVPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1271MSH2NM_ 000251.2(MSH2): c.530_ 531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1272MSH2NM_ 000251.2(MSH2): c.547C> T (p.Gln183Ter)SNVPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1273MSH2NM_ 000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1274MSH2NM_ 000251.2(MSH2): c.560T> C (p.Leu187Pro)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1275MSH2NM_ 000251.2(MSH2): c.560T> G (p.Leu187Arg)SNVPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1276MSH2NM_ 000251.2(MSH2): c.571_ 573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1277MSH2NM_ 000251.2(MSH2): c.577C> T (p.Gln193Ter)SNVPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1278MSH2NM_ 000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1279MSH2NM_ 000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1280MSH2NM_ 000251.2(MSH2): c.595T> C (p.Cys199Arg)SNVPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1281MSH2NM_ 000251.2(MSH2): c.610G> T (p.Gly204Ter)SNVPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1282MSH2NM_ 000251.2(MSH2): c.613G> T (p.Glu205Ter)SNVPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1283MSH2NM_ 000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1284MSH2NM_ 000251.2(MSH2): c.638_ 639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1285MSH2NM_ 000251.2(MSH2): c.642_ 645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1286MSH2NM_ 000251.2(MSH2): c.643C> T (p.Gln215Ter)SNVPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1287MSH2NM_ 000251.2(MSH2): c.645+1G> ASNVPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1288MSH2NM_ 000251.2(MSH2): c.645+1G> TSNVLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1289MSH2NM_ 000251.1(MSH2): c.645+539_ 1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1290MSH2NM_ 000251.1(MSH2): c.645+791_ 1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1291MSH2NM_ 000251.1(MSH2): c.645+967_ 1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1292MSH2NM_ 000251.2(MSH2): c.646-3T> GSNVPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1293MSH2NM_ 000251.2(MSH2): c.646-?_ *(272_ ?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1294MSH2NM_ 000251.2(MSH2): c.646-?_ 1076+?deldeletionPathogenic
1295MSH2NM_ 000251.2(MSH2): c.646-?_ 1276+?deldeletionPathogenic
1296MSH2NM_ 000251.2(MSH2): c.646-?_ 1386+?deldeletionPathogenic
1297MSH2NM_ 000251.2(MSH2): c.646-?_ 792+?deldeletionPathogenic
1298MSH2NM_ 000251.2(MSH2): c.646-?_ 942+?deldeletionPathogenic
1299MSH2NM_ 000251.2(MSH2): c.650_ 654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1300MSH2NM_ 000251.2(MSH2): c.652C> T (p.Gln218Ter)SNVPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1301MSH2NM_ 000251.2(MSH2): c.675_ 679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1302MSH2NM_ 000251.2(MSH2): c.685A> T (p.Lys229Ter)SNVPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1303MSH2NM_ 000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1304MSH2NM_ 000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1305MSH2NM_ 000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1306MSH2NM_ 000251.2(MSH2): c.696_ 697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1307MSH2NM_ 000251.2(MSH2): c.704_ 705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1308MSH2NM_ 000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1309MSH2NM_ 000251.2(MSH2): c.711_ 714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1310MSH2NM_ 000251.2(MSH2): c.715C> T (p.Gln239Ter)SNVPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1311MSH2NM_ 000251.2(MSH2): c.717_ 721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1312MSH2NM_ 000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1313MSH2NM_ 000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1314MSH2NM_ 000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1315MSH2NM_ 000251.2(MSH2): c.736A> T (p.Lys246Ter)SNVPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1316MSH2NM_ 000251.2(MSH2): c.73_ 74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1317MSH2NM_ 000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1318MSH2NM_ 000251.2(MSH2): c.754C> T (p.Gln252Ter)SNVPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1319MSH2NM_ 000251.2(MSH2): c.759_ 762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1320MSH2NM_ 000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1321MSH2NM_ 000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh38Chr 2, 47412529: 47412529
1322MSH2NM_ 000251.2(MSH2): c.763_ 766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1323MSH2NM_ 000251.2(MSH2): c.767_ 768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1324MSH2NM_ 000251.2(MSH2): c.788_ 789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1325MSH2NM_ 000251.2(MSH2): c.792+1G> ASNVPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1326MSH2NM_ 000251.1(MSH2): c.792+8_ 943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1327MSH2NM_ 000251.2(MSH2): c.793-6_ 942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1328MSH2NM_ 000251.2(MSH2): c.793-?_ 1076+?deldeletionPathogenic
1329MSH2NM_ 000251.2(MSH2): c.793-?_ 1276+?del484deletionPathogenic
1330MSH2NM_ 000251.2(MSH2): c.793-?_ 1386+?deldel594deletionPathogenic
1331MSH2NM_ 000251.2(MSH2): c.793-?_ 942+?deldeletionPathogenic
1332MSH2NM_ 000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1333MSH2NM_ 000251.2(MSH2): c.810_ 811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1334MSH2NM_ 000251.2(MSH2): c.811_ 814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1335MSH2NM_ 000251.2(MSH2): c.82G> T (p.Glu28Ter)SNVPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1336MSH2NM_ 000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1337MSH2NM_ 000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1338MSH2NM_ 000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1339MSH2NM_ 000251.2(MSH2): c.842C> A (p.Ser281Ter)SNVPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1340MSH2NM_ 000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1341MSH2NM_ 000251.2(MSH2): c.859G> T (p.Gly287Ter)SNVPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1342MSH2NM_ 000251.2(MSH2): c.862C> T (p.Gln288Ter)SNVPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1343MSH2NM_ 000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1344MSH2NM_ 000251.2(MSH2): c.868G> T (p.Glu290Ter)SNVPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1345MSH2NM_ 000251.2(MSH2): c.873_ 876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1346MSH2NM_ 000251.2(MSH2): c.881_ 882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1347MSH2NM_ 000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1348MSH2NM_ 000251.2(MSH2): c.892C> T (p.Gln298Ter)SNVPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1349MSH2NM_ 000251.2(MSH2): c.898_ 899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1350MSH2NM_ 000251.2(MSH2): c.901A> T (p.Lys301Ter)SNVPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1351MSH2NM_ 000251.2(MSH2): c.905T> A (p.Leu302Ter)SNVPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1352MSH2NM_ 000251.2(MSH2): c.915_ 922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1353MSH2NM_ 000251.2(MSH2): c.929T> C (p.Leu310Pro)SNVPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1354MSH2NM_ 000251.2(MSH2): c.942G> A (p.Gln314=)SNVPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1355MSH2NM_ 000251.2(MSH2): c.943-1G> CSNVLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1356MSH2NM_ 000251.1(MSH2): c.943-926_ 1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1357MSH2NM_ 000251.2(MSH2): c.943-?_ 1076+?deldeletionPathogenic
1358MSH2NM_ 000251.2(MSH2): c.94_ 103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1359MSH2NM_ 000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1360MSH2NM_ 000251.2(MSH2): c.970C> T (p.Gln324Ter)SNVPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1361MSH2NM_ 000251.2(MSH2): c.970_ 971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh37Chr 2, 47643462: 47643463
1362MSH2NM_ 000251.2(MSH2): c.970_ 971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1363MSH2NM_ 000251.1(MSH2): c.972_ 973insNM_ 002133.2: c.737-1292_ 737-1109insertionPathogenic
1364MSH2NM_ 000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1365PMS2NM_ 000535.5(PMS2): c.(?_ -87)_ (*160_ ?)deldeletionPathogenic
1366PMS2NM_ 000535.6(PMS2): c.(?_ -87)_ 1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1367PMS2NM_ 000535.6(PMS2): c.(?_ -87)_ 23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1368PMS2NM_ 000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1369PMS2NM_ 000535.6(PMS2): c.1112_ 1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1370PMS2NM_ 000535.6(PMS2): c.1144+2T> ASNVLikely pathogenicrs267608158GRCh37Chr 7, 6029429: 6029429
1371PMS2NM_ 000535.5(PMS2): c.1145-1350_ *20545deldeletionPathogenic
1372PMS2NM_ 000535.6(PMS2): c.1145-?_ 2174+?deldeletionPathogenic
1373PMS2NM_ 000535.6(PMS2): c.1145-?_ 2445+?deldeletionPathogenic
1374PMS2NM_ 000535.6(PMS2): c.1169_ 1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1375PMS2NM_ 000535.6(PMS2): c.1261C> T (p.Arg421Ter)SNVPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1376PMS2NM_ 000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1377PMS2NM_ 000535.5(PMS2): c.164-518_ 803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1378PMS2NM_ 000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1379PMS2NM_ 000535.6(PMS2): c.1738A> T (p.Lys580Ter)SNVPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1380PMS2NM_ 000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1381PMS2NM_ 000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1382PMS2NM_ 000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1383PMS2NM_ 000535.6(PMS2): c.1840A> T (p.Lys614Ter)SNVPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1384PMS2NM_ 000535.6(PMS2): c.1927C> T (p.Gln643Ter)SNVPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1385PMS2NM_ 000535.6(PMS2): c.1939A> T (p.Lys647Ter)SNVPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1386PMS2NM_ 000535.6(PMS2): c.2174+1G> ASNVPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1387PMS2NM_ 000535.6(PMS2): c.2192_ 2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1388PMS2NM_ 000535.6(PMS2): c.219_ 220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1389PMS2NM_ 000535.6(PMS2): c.2243_ 2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1390PMS2NM_ 000535.6(PMS2): c.2276-113_ 2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1391PMS2NM_ 000535.6(PMS2): c.2276-91_ 2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1392PMS2NM_ 000535.6(PMS2): c.2361_ 2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1393PMS2NM_ 000535.6(PMS2): c.24-12_ 107del96insAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1394PMS2NM_ 000535.6(PMS2): c.24-?_ 163+?deldeletionPathogenic
1395PMS2NM_ 000535.6(PMS2): c.354-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1396PMS2NM_ 000535.6(PMS2): c.354-?_ 803+?deldeletionPathogenic
1397PMS2NM_ 000535.6(PMS2): c.538-478_ 705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1398PMS2NM_ 000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1399PMS2NM_ 000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1400PMS2NM_ 000535.6(PMS2): c.697C> T (p.Gln233Ter)SNVPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1401PMS2NM_ 000535.6(PMS2): c.703C> T (p.Gln235Ter)SNVPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1402PMS2NM_ 000535.6(PMS2): c.706-?_ 803+?deldeletionPathogenic
1403PMS2NM_ 000535.6(PMS2): c.736_ 741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1404PMS2NM_ 000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1405PMS2NM_ 000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1406PMS2NM_ 000535.5(PMS2): c.804-60_ 804-59insJN866832.1insertionPathogenic
1407PMS2NM_ 000535.6(PMS2): c.804-?_ 2006+?deldeletionPathogenicGRCh38Chr 7, 5986759: 5995633
1408PMS2NM_ 000535.6(PMS2): c.804-?_ 903+?deldeletionPathogenic
1409PMS2NM_ 000535.6(PMS2): c.861_ 864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1410PMS2NM_ 000535.6(PMS2): c.862_ 863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1411PMS2NM_ 000535.6(PMS2): c.904-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1412PMS2NM_ 000535.6(PMS2): c.904-?_ 1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 5992057
1413PMS2NM_ 000535.6(PMS2): c.904-?_ 988+?deldeletionPathogenic
1414PMS2NM_ 000535.6(PMS2): c.943C> T (p.Arg315Ter)SNVPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1415PMS2NM_ 000535.6(PMS2): c.949C> T (p.Gln317Ter)SNVPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1416PMS2NM_ 000535.6(PMS2): c.989-296_ 1144+706deldeletionPathogenicGRCh38Chr 7, 5989094: 5990251
1417PMS2NM_ 000535.6(PMS2): c.989-2A> GSNVLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1418PMS2NM_ 000535.6(PMS2): c.989-?_ *(160_ ?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1419PMS2NM_ 000535.6(PMS2): c.400C> T (p.Arg134Ter)SNVPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1420PMS2NM_ 000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1421PMS2NM_ 000535.6(PMS2): c.2404C> T (p.Arg802Ter)SNVPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1422PMS2NM_ 000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh38Chr 7, 5989923: 5989923
1423PMS2NM_ 000535.6(PMS2): c.1882C> T (p.Arg628Ter)SNVPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1424PMS2NM_ 000535.6(PMS2): c.137G> T (p.Ser46Ile)SNVLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1425MSH6NM_ 000179.2(MSH6): c.3477C> A (p.Tyr1159Ter)SNVPathogenicrs398123231GRCh37Chr 2, 48032087: 48032087
1426MSH6NM_ 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 20)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8MLH1, MSH2
2
Show member pathways
9.8MLH1, MSH2
39.3MLH1, MSH2, MSH6
4
Show member pathways
9.3MLH1, MSH2, MSH6
59.2MLH1, MSH2, PMS2
69.1BRCA1, MSH2, MSH6
78.8MLH1, MSH2, MSH6, PMS2
88.7BRCA1, MLH1, MSH2, MSH6
9
Show member pathways
8.6BRCA1, MLH1, MSH2, PMS2
10
Show member pathways
8.6BRCA1, MLH1, MSH2, PMS2
118.5BRCA2, MLH1, MSH2, MSH6
12
Show member pathways
8.3MLH1, MLH3, MSH2, MSH6, PMS2
13
Show member pathways
8.2BRCA1, BRCA2, MSH2, MSH6
14
Show member pathways
8.2BRCA1, BRCA2, MSH2, MSH6
158.2BRCA1, BRCA2, MSH2, MSH6
16
Show member pathways
8.1BRCA1, BRCA2, MLH1, PMS2
17
Show member pathways
8.1BRCA1, BRCA2, MLH1, MLH3
18
Show member pathways
7.9BRCA1, BRCA2, MLH1, MSH2, MSH6
197.9BRCA1, BRCA2, MLH1, MSH2, MSH6
20
Show member pathways
7.3BRCA1, 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:003230110.4MSH2, MSH6
2chiasmaGO:000571210.3MLH1, MLH3
3MutLalpha complexGO:003238910.3MLH1, PMS2
4male germ cell nucleusGO:000167310.3MLH1, MLH3
5condensed chromosomeGO:000079310.2BRCA1, MLH1
6mismatch repair complexGO:00323009.9MLH3, MSH2, PMS2
7lateral elementGO:00008009.8BRCA1, BRCA2
8condensed nuclear chromosomeGO:00007949.7BRCA1, MLH1, MLH3
9synaptonemal complexGO:00007959.6MLH1, MLH3
10nucleoplasmGO:00056547.7BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1determination of adult lifespanGO:000834010.4MSH2, MSH6
2positive regulation of isotype switching to IgA isotypesGO:004829810.3MLH1, MSH2
3positive regulation of isotype switching to IgG isotypesGO:004830410.3MLH1, MSH2
4maintenance of DNA repeat elementsGO:004357010.3MSH2, MSH6
5negative regulation of DNA recombinationGO:004591010.2MSH2, MSH6
6positive regulation of helicase activityGO:005109610.2MSH2, MSH6
7male meiosisGO:000714010.2MLH1, MLH3
8somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.1MLH1, MSH2
9reciprocal meiotic recombinationGO:000713110.1MLH1, MLH3
10postreplication repairGO:000630110.0BRCA1, MSH2
11intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:00427719.9BRCA2, MSH2
12isotype switchingGO:00451909.9MLH1, MSH2, MSH6
13response to X-rayGO:00101659.8BRCA2, MSH2
14chordate embryonic developmentGO:00430099.7BRCA1, BRCA2
15DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.7BRCA1, BRCA2
16somatic recombination of immunoglobulin gene segmentsGO:00164479.7MLH1, MSH2, MSH6
17DNA synthesis involved in DNA repairGO:00007319.7BRCA1, BRCA2
18double-strand break repairGO:00063029.3BRCA1, BRCA2, MSH2
19somatic hypermutation of immunoglobulin genesGO:00164469.2MLH1, MSH2, MSH6, PMS2
20strand displacementGO:00007329.0BRCA1, BRCA2
21mismatch repairGO:00062988.8MLH1, MLH3, MSH2, MSH6, PMS2
22intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.5BRCA1, BRCA2, MLH1, MSH2, MSH6
23cellular response to DNA damage stimulusGO:00069747.5BRCA1, BRCA2, MLH1, MLH3, MSH2, MSH6
24DNA repairGO:00062817.4BRCA1, BRCA2, MLH1, MLH3, MSH2, MSH6

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1ADP bindingGO:004353110.4MSH2, MSH6
2four-way junction DNA bindingGO:000040010.2MSH2, MSH6
3MutLalpha complex bindingGO:003240510.2MSH2, MSH6
4oxidized purine DNA bindingGO:003235710.2MSH2, MSH6
5centromeric DNA bindingGO:001923710.2MLH3, MSH2
6single guanine insertion bindingGO:003214210.2MSH2, MSH6
7single thymine insertion bindingGO:003214310.2MSH2, MSH6
8MutSalpha complex bindingGO:003240710.1MLH1, PMS2
9guanine/thymine mispair bindingGO:00321379.8MLH1, MSH2, MSH6
10damaged DNA bindingGO:00036849.6BRCA1, MSH2, MSH6
11ATP bindingGO:00055248.9MLH1, MLH3, MSH2, MSH6, PMS2
12ATPase activityGO:00168878.8MLH1, MLH3, MSH2, MSH6, PMS2
13mismatched DNA bindingGO:00309838.8MLH1, MLH3, MSH2, MSH6, PMS2
14single-stranded DNA bindingGO:00036977.9BRCA2, 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