MCID: CLR070
MIFTS: 52

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 malady

Categories: Genetic diseases (common), 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 50 12
Hereditary Non-Polyposis Colorectal Cancer 1 68 25
Lynch Syndrome Type Ii 68 25
Lynch Syndrome Type I 68 25
Hereditary Non-Polyposis Colorectal Cancer 3 68
Lynch Cancer Family Syndrome 68
 
Lynch Syndrome Ii 48
Lynch Syndrome I 48
Lynch Syndrome 68
Hnpcc1 68
Hnpcc3 68

Characteristics:

HPO:

62
colorectal cancer, hereditary nonpolyposis, type 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 120435
MeSH37 D003123

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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OMIM:50 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 BRCA1 Pathway and p53 Pathway (RnD). Affiliated tissues include colon, skin and uterus, and related mouse phenotypes are digestive/alimentary and neoplasm.

UniProtKB/Swiss-Prot:68 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 all 37)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer26.8EPCAM, MLH1, MSH2, MSH6, PMS2
2lynch syndrome11.3
3gastric cancer, somatic10.0
4acquired amegakaryocytic thrombocytopenia10.0MSH2, MSH6
5angioimmunoblastic lymphadenopathy with dysproteinemia9.8MLH1, MSH2
6pityriasis rosea9.8MLH1, MSH2
7cervical adenomyoma9.8MLH1, MSH2
8colver steer godman syndrome9.8MLH1, MSH2
9hyperaldosteronism9.6MLH1, MSH2
10sleeping sickness9.6MLH1, MSH6
11prostate embryonal rhabdomyosarcoma9.5MSH2, MSH6, PMS2
12periapical granuloma9.5MLH1, MSH2
13spleen angiosarcoma9.3MLH1, MSH2, MSH6
14food allergy9.3MLH1, MSH2, MSH6
15solitary bone cyst9.3MLH1, MSH2, MSH6
16congenital hypomyelination neuropathy9.3MLH1, MSH2
17optic papillitis9.3MLH1, MSH2, MSH6
18arrhythmogenic right ventricular cardiomyopathy9.3MLH1, MSH2, MSH6
19trachea sarcoma9.3MLH1, MSH2, MSH6
20dysostosis9.3MLH1, MSH2, MSH6
21clitoris cancer9.1EPCAM, MLH1, MSH2
22large intestine adenocarcinoma8.9MLH1, MSH2, MSH6, PMS2
23hereditary essential tremor 58.9MLH1, MSH2, MSH6, PMS2
24subependymal glioma8.8MLH1, MSH2, MSH6, PMS2
25muir-torre syndrome8.8MLH1, MSH2, MSH6, PMS2
26mismatch repair cancer syndrome8.8MLH1, MSH2, MSH6, PMS2
27neurofibromatosis-noonan syndrome8.8MLH1, MSH2, MSH6, PMS2
28cerebellar disease8.8MLH1, MSH2, MSH6, PMS2
29tumor predisposition syndrome8.8MLH1, MSH2, MSH6, PMS2
30lymphoplasmacytic lymphoma8.8MLH1, MSH2, MSH6, PMS2
31in situ carcinoma8.8MLH1, MSH2, MSH6, PMS2
32muscular dystrophy-dystroglycanopathy , type a, 28.8MLH1, MSH2, MSH6, PMS2
33breast cancer8.5EPCAM, MLH1, MSH2, MSH6
34neuropathy, distal hereditary motor, type viib8.4EPCAM, MLH1, MSH2, MSH6, PMS2
35y-linked disease8.4EPCAM, MLH1, MSH2, MSH6, PMS2
36gallbladder papillomatosis8.4EPCAM, MLH1, MSH2, MSH6, PMS2
37hidrocystoma8.4EPCAM, MLH1, 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 for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435

HPO human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Description Frequency HPO Source Accession
1 colon cancer HP:0003003

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevoleucovorinPhase 369668538-85-2
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
OxaliplatinPhase 3136661825-94-35310940, 9887054, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
3
BevacizumabPhase 31938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
4
leucovorinPhase 3104758-05-9143, 54575
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
5
FluorouracilPhase 3172851-21-83385
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
6
AspirinPhase 3107450-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
7COLANutraceuticalPhase 31824
8
Folic AcidNutraceuticalPhase 3414359-30-36037
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
9FolateNutraceuticalPhase 34143
10
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11pancreatin917

Interventional clinical trials:

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
3Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite InstabilityNot yet recruitingNCT02912559Phase 3
4Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch SyndromeNot yet recruitingNCT02813824Phase 3
5Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
6Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
7Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
8Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
9Cancer Research Repository for Individuals With Cancer Diagnosis and High Risk Individuals.RecruitingNCT02012699
10Hypodontia and Ovarian CancerRecruitingNCT01470235

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

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

id Genetic test Affiliating Genes
1 Lynch Syndrome Ii25
2 Lynch Syndrome I25
3 Colorectal Cancer, Hereditary, Nonpolyposis, Type 125

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

About this section

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

34
Colon, Skin, Uterus, Ovary, Breast, Small intestine

Animal Models for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5EPCAM, MLH1, MSH2, PMS2
2MP:00020068.5MLH1, MSH2, MSH6, PMS2
3MP:00053848.0EPCAM, MLH1, MSH2, MSH6, PMS2
4MP:00107687.7EPCAM, MLH1, MSH2, MSH6, PMS2
5MP:00053767.7EPCAM, MLH1, MSH2, MSH6, PMS2

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

68 (show all 68)
id Symbol AA change Variation ID SNP ID
1MSH2p.His46GlnVAR_004470rs33946261
2MSH2p.Asn139SerVAR_004472
3MSH2p.Asp167HisVAR_004474
4MSH2p.Ala305ThrVAR_004476
5MSH2p.Arg524ProVAR_004479
6MSH2p.Glu562ValVAR_004480
7MSH2p.Pro622LeuVAR_004482rs28929483
8MSH2p.His639TyrVAR_004483rs28929484
9MSH2p.Gly674SerVAR_004485
10MSH2p.Cys697PheVAR_004486
11MSH2p.Ala834ThrVAR_004488
12MSH2p.Gly692ArgVAR_009250
13MSH2p.Cys697ArgVAR_009251
14MSH2p.Val161AspVAR_012936
15MSH2p.Ala636ProVAR_012944
16MSH2p.Met688IleVAR_012945rs63750790
17MSH2p.Lys845GluVAR_013172rs63750571
18MSH2p.Asn127SerVAR_019234rs17217772
19MSH2p.Val163GlyVAR_022670
20MSH2p.Asp660GlyVAR_022671
21MSH2p.Thr33ProVAR_043738
22MSH2p.Leu93PheVAR_043743
23MSH2p.Val102IleVAR_043745
24MSH2p.Lys110ThrVAR_043746
25MSH2p.Gly162ArgVAR_043747
26MSH2p.Val163AspVAR_043748
27MSH2p.Gly164ArgVAR_043749
28MSH2p.Leu173ProVAR_043751
29MSH2p.Leu175ProVAR_043752
30MSH2p.Leu187ProVAR_043753
31MSH2p.Asp283TyrVAR_043757
32MSH2p.Cys333TyrVAR_043759
33MSH2p.Pro336SerVAR_043761
34MSH2p.Pro349LeuVAR_043763
35MSH2p.Arg359SerVAR_043764
36MSH2p.Lys393MetVAR_043765
37MSH2p.Met492ValVAR_043767
38MSH2p.Thr552ProVAR_043768
39MSH2p.Asn583SerVAR_043770
40MSH2p.Ala600ValVAR_043771
41MSH2p.Asp603AsnVAR_043772
42MSH2p.His639ArgVAR_043775
43MSH2p.Glu647LysVAR_043776
44MSH2p.Tyr656HisVAR_043777
45MSH2p.Ile679ThrVAR_043779
46MSH2p.Ser723PheVAR_043781
47MSH2p.Met729ValVAR_043782
48MSH2p.Thr732IleVAR_043783
49MSH2p.Glu749LysVAR_043785
50MSH2p.Met813ValVAR_043786
51MSH2p.His839ArgVAR_043788
52MSH2p.Lys931ThrVAR_043795
53MSH2p.Ala2ThrVAR_054511
54MSH2p.Gly162AlaVAR_054512
55MSH2p.Glu198GlyVAR_054513
56MSH2p.Asn331AspVAR_054514
57MSH2p.Val470GluVAR_054515
58MSH2p.His610AsnVAR_054516
59MSH2p.Arg638GlyVAR_054517
60MSH2p.Gln645GluVAR_054518
61MSH2p.Pro696LeuVAR_054519
62MSH2p.Asp748TyrVAR_054520
63MSH2p.His839GlnVAR_054521
64MSH2p.Gly674ArgVAR_067288
65MSH2p.Gly669ArgVAR_067761
66MSH2p.Leu187ArgVAR_076352
67MSH2p.Gly674AlaVAR_076353
68MSH2p.Met688ValVAR_076354

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

5 (show all 1,308)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH2NM_000251.2(MSH2): c.932delA (p.Asn311Thrfs)deletionPathogenicrs587779979GRCh37Chr 2, 47641547: 47641547
2MSH6NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter)single nucleotide variantPathogenicrs587780538GRCh37Chr 2, 48026489: 48026489
3MSH6NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs)duplicationPathogenicrs587780670GRCh37Chr 2, 48026912: 48026912
4PMS2NM_000535.6(PMS2): c.1376C> A (p.Ser459Ter)single nucleotide variantPathogenicrs587780724GRCh37Chr 7, 6027020: 6027020
5PMS2NM_000535.6(PMS2): c.904-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs587781339GRCh37Chr 7, 6031690: 6031690
6MLH1NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs)duplicationPathogenicrs587781554GRCh37Chr 3, 37061887: 37061887
7PMS2NM_000535.6(PMS2): c.325delG (p.Glu109Lysfs)deletionPathogenicrs587781716GRCh37Chr 7, 6043349: 6043349
8PMS2NM_000535.6(PMS2): c.736_741delCCCCCTins11 (p.?)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
9PMS2NM_000535.6(PMS2): c.2117delA (p.Lys706Serfs)deletionPathogenicrs587782704GRCh38Chr 7, 5982881: 5982881
10PMS2NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs)deletionPathogenicrs587782710GRCh38Chr 7, 5997376: 5997383
11MSH6NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs)deletionLikely pathogenic, Pathogenicrs587782712GRCh38Chr 2, 47801020: 47801024
12MLH1NM_000249.3(MLH1): c.117-2A> Gsingle nucleotide variantPathogenicrs267607712GRCh38Chr 3, 36996617: 36996617
13MSH2NM_000251.2(MSH2): c.2363_2364delCT (p.Thr788Serfs)deletionLikely pathogenicrs63750937GRCh38Chr 2, 47478424: 47478425
14MSH2NM_000251.2(MSH2): c.2304delA (p.Glu768Aspfs)deletionLikely pathogenicrs587783053GRCh38Chr 2, 47478365: 47478365
15MSH2NM_000251.2(MSH2): c.1271dupA (p.His424Glnfs)duplicationPathogenicrs587783055GRCh38Chr 2, 47429936: 47429936
16MSH6NM_000179.2(MSH6): c.1705_1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
17EPCAMNM_002354.2(EPCAM): c.556-14A> Gsingle nucleotide variantPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
18PMS2NM_000535.6(PMS2): c.1144+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs373885654GRCh37Chr 7, 6029430: 6029430
19MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
20MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
21MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
22MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
23MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
24MLH1MLH1, EX16DELdeletionPathogenic
25MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
26MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
27MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
28MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
29MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenic
30MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
31MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
32MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
33MSH2MSH2, DEL 50 CODONSdeletionPathogenic
34MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
35MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantPathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
36MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
37MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
38MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
39MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
40MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
41MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
42MSH2MSH2, EX1-6 DELdeletionPathogenic
43MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
44MSH2nsv513794deletionPathogenic
45MSH2NG_007110.2: g.4247_24291del20045deletionPathogenicGRCh37Chr 2, 47629509: 47649553
46MSH6NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter)single nucleotide variantPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
47MSH6NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs)deletionPathogenicrs730881829GRCh38Chr 2, 47806247: 47806247
48PMS2NM_000535.6(PMS2): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs587780059GRCh38Chr 7, 6009018: 6009018
49PMS2NM_000535.6(PMS2): c.765C> A (p.Tyr255Ter)single nucleotide variantPathogenicrs573125799GRCh37Chr 7, 6036995: 6036995
50MSH6NM_000179.2(MSH6): c.10C> T (p.Gln4Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
51MSH6NM_000179.2(MSH6): c.578delT (p.Leu193Trpfs)deletionPathogenicrs587782281GRCh37Chr 2, 48023153: 48023153
52MSH6NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs)duplicationPathogenicrs786201050GRCh37Chr 2, 48027352: 48027352
53PMS2NM_000535.6(PMS2): c.251-2A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs587779340GRCh37Chr 7, 6043425: 6043425
54MSH6NM_000179.2(MSH6): c.3980_3983dupATCA (p.Leu1330Valfs)duplicationLikely pathogenic, Pathogenicrs786201855GRCh37Chr 2, 48033769: 48033772
55MSH6NM_000179.2(MSH6): c.989C> A (p.Ser330Ter)single nucleotide variantPathogenicrs786202848GRCh37Chr 2, 48026111: 48026111
56PMS2NM_000535.6(PMS2): c.1874delT (p.Leu625Terfs)deletionPathogenicrs786203073GRCh37Chr 7, 6026522: 6026522
57MSH6NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs)duplicationPathogenicrs267608083GRCh37Chr 2, 48027201: 48027201
58EPCAMNM_002354.2(EPCAM): c.859-?_*(415_?)deldeletionPathogenic
59MSH6NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs)deletionPathogenicrs786204048GRCh37Chr 2, 48027266: 48027267
60MSH2NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs)deletionPathogenicrs786204050GRCh37Chr 2, 47705481: 47705481
61PMS2NM_000535.6(PMS2): c.1185delC (p.Met396Trpfs)deletionPathogenicrs786204104GRCh37Chr 7, 6027211: 6027211
62MSH2NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs)insertionPathogenicrs786204144GRCh37Chr 2, 47639689: 47639690
63MSH2NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter)single nucleotide variantPathogenicrs786203036GRCh37Chr 2, 47690225: 47690225
64MSH6NM_000179.2(MSH6): c.1108_1109delTT (p.Leu370Argfs)deletionPathogenicrs786204252GRCh37Chr 2, 48026230: 48026231
65MSH2NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs)duplicationPathogenicrs786204257GRCh37Chr 2, 47635589: 47635589
66MLH1NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs)deletionPathogenicGRCh37Chr 3, 37035039: 37035154
67MLH1NM_000249.3(MLH1): c.208_545deldeletionPathogenicGRCh38Chr 3, 37000955: 37008905
68MLH1NM_000249.3(MLH1): c.976delG (p.Val326Cysfs)deletionPathogenicrs786204317GRCh37Chr 3, 37061892: 37061892
69MSH2NM_000251.2(MSH2): c.475dupA (p.Arg159Lysfs)duplicationLikely pathogenicrs786204319GRCh38Chr 2, 47410202: 47410202
70MSH2NM_000251.2(MSH2): c.793-1_796delinsAAATTAAGAindelLikely pathogenicrs786204320GRCh37Chr 2, 47641407: 47641411
71MSH2NM_000251.2(MSH2): c.1278_1386+1deldeletionPathogenicGRCh38Chr 2, 47445549: 47445658
72MSH2NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter)single nucleotide variantPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
73MSH6NM_000179.2(MSH6): c.(?_-1)_457+?deldeletionPathogenicGRCh37Chr 2, 48010372: 48018262
74MSH6NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicrs863224473GRCh37Chr 2, 48026167: 48026167
75MSH6NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs)duplicationPathogenicrs863224474GRCh38Chr 2, 47799727: 47799727
76MSH6NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs)deletionPathogenicrs863224475GRCh37Chr 2, 48027211: 48027211
77MSH6NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs)deletionPathogenicrs863224476GRCh37Chr 2, 48030821: 48030821
78MLH1NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter)single nucleotide variantPathogenicrs63750549GRCh37Chr 3, 37090023: 37090023
79MLH1NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs)deletionPathogenicrs863224480GRCh38Chr 3, 37014458: 37014477
80MSH2NM_000251.2(MSH2): c.(?_-1)_1076+?deldeletionPathogenicGRCh38Chr 2, 47403191: 47416429
81MSH2NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)deletionPathogenicrs863224481GRCh37Chr 2, 47630471: 47630484
82MSH2NM_000251.2(MSH2): c.1662-?_*(1_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710089
83PMS2NM_000535.6(PMS2): c.1239dupA (p.Asp414Argfs)duplicationPathogenicrs758048239GRCh38Chr 7, 5987526: 5987526
84PMS2NM_000535.6(PMS2): c.1297A> T (p.Lys433Ter)single nucleotide variantPathogenicrs863224496GRCh37Chr 7, 6027099: 6027099
85PMS2NM_000535.6(PMS2): c.1576delG (p.Asp526Thrfs)deletionPathogenicrs863224497GRCh38Chr 7, 5987189: 5987189
86PMS2NM_000535.6(PMS2): c.1638_1639delTT (p.Ser547Argfs)deletionPathogenicrs863224498GRCh38Chr 7, 5987126: 5987127
87PMS2NM_000535.6(PMS2): c.989-?_1144+?deldeletionPathogenic
88MSH6NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs)deletionPathogenicrs863224829GRCh38Chr 2, 47799593: 47799596
89MSH2NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs)duplicationPathogenicrs863224833GRCh37Chr 2, 47641527: 47641527
90MSH6NM_000179.2(MSH6): c.3332_3335dupATGA (p.Asp1112Glufs)duplicationPathogenicrs587782562GRCh37Chr 2, 48030718: 48030721
91MSH6NM_000179.2(MSH6): c.3528_3532delACTTG (p.Leu1177Cysfs)deletionLikely pathogenic, Pathogenicrs863225408GRCh38Chr 2, 47804999: 47805003
92MSH6NM_000179.2(MSH6): c.4028C> G (p.Ser1343Ter)single nucleotide variantPathogenicrs863225420GRCh38Chr 2, 47806805: 47806805
93MLH1NM_000249.3(MLH1): c.1676T> C (p.Leu559Pro)single nucleotide variantLikely pathogenicrs63750059GRCh37Chr 3, 37083767: 37083767
94MLH1NM_000249.3(MLH1): c.2263A> G (p.Arg755Gly)single nucleotide variantPathogenicrs267607900GRCh37Chr 3, 37092136: 37092136
95PMS2NM_000535.5: c.(1144+1_1145-1)_(2174+1_2715-1)dupduplicationPathogenic
96MSH6NM_000179.2(MSH6): c.3632T> C (p.Leu1211Pro)single nucleotide variantPathogenicrs864622041GRCh37Chr 2, 48032832: 48032832
97MSH2NM_000251.2(MSH2): c.1963_1964delGT (p.Val655Ilefs)deletionPathogenicrs864622121GRCh37Chr 2, 47702367: 47702368
98MSH6NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter)single nucleotide variantPathogenicrs864622153GRCh38Chr 2, 47799674: 47799674
99MSH2NM_000251.2(MSH2): c.748G> T (p.Gly250Ter)single nucleotide variantPathogenicrs864622183GRCh37Chr 2, 47639655: 47639655
100PMS2NM_000535.6(PMS2): c.121G> T (p.Glu41Ter)single nucleotide variantPathogenicrs3209663GRCh37Chr 7, 6045565: 6045565
101MSH6NM_000179.2(MSH6): c.458-?_3172+?deldeletionPathogenic
102MSH6NM_000179.2(MSH6): c.2136delG (p.Asp713Ilefs)deletionPathogenicrs864622257GRCh37Chr 2, 48027258: 48027258
103MSH2NM_000251.2(MSH2): c.819_821delAATinsTG (p.Ile274Alafs)indelPathogenicrs864622261GRCh37Chr 2, 47641434: 47641436
104PMS2NM_000535.6(PMS2): c.538-?_903+?deldeletionPathogenic
105MSH2NM_000251.2(MSH2): c.842C> G (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
106MSH2NM_000251.2(MSH2): c.1023delT (p.Val342Leufs)deletionPathogenicrs864622340GRCh37Chr 2, 47643515: 47643515
107MLH1NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter)single nucleotide variantPathogenicrs267607823GRCh37Chr 3, 37067335: 37067335
108EPCAMNM_002354.2(EPCAM): c.491+1G> Tsingle nucleotide variantPathogenicrs606231203GRCh37Chr 2, 47602439: 47602439
109MSH6NM_000179.2(MSH6): c.3526A> T (p.Arg1176Ter)single nucleotide variantPathogenicrs786203968GRCh37Chr 2, 48032136: 48032136
110PMS2NM_000535.6(PMS2): c.2276-?_2445+?deldeletionPathogenic
111MSH6NM_000179.2(MSH6): c.1387G> T (p.Glu463Ter)single nucleotide variantPathogenicrs864622435GRCh38Chr 2, 47799370: 47799370
112MSH2NM_000251.2(MSH2): c.1563T> A (p.Tyr521Ter)single nucleotide variantPathogenicrs63750330GRCh37Chr 2, 47693849: 47693849
113MSH2NM_000251.2(MSH2): c.421_422delAT (p.Met141Valfs)deletionPathogenicrs863224482GRCh37Chr 2, 47637287: 47637288
114MSH6NM_000179.2(MSH6): c.2308_2312delGGTAAinsT (p.Gly770Cysfs)indelPathogenicrs864622585GRCh37Chr 2, 48027430: 48027434
115PMS2NM_000535.6(PMS2): c.1750dupA (p.Ile584Asnfs)duplicationPathogenicrs864622600GRCh38Chr 7, 5987015: 5987015
116MLH1NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter)indelPathogenicrs869312767GRCh37Chr 3, 37035063: 37035064
117MSH2NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs)duplicationPathogenicrs869312768GRCh37Chr 2, 47657005: 47657006
118MSH6NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs)deletionPathogenicrs869312769GRCh37Chr 2, 48026474: 48026474
119MSH6NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs)deletionPathogenicrs869312770GRCh38Chr 2, 47800831: 47800832
120PMS2NM_000535.6(PMS2): c.1500delC (p.Val501Trpfs)deletionPathogenicrs759151952GRCh38Chr 7, 5987265: 5987265
121MSH2NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter)single nucleotide variantPathogenicrs876657701GRCh38Chr 2, 47445655: 47445655
122PMS2NM_000535.6(PMS2): c.851C> G (p.Ser284Ter)single nucleotide variantPathogenicrs587782898GRCh37Chr 7, 6035217: 6035217
123MSH6NM_000179.2(MSH6): c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer)deletionPathogenicrs876660630GRCh37Chr 2, 48027767: 48027775
124PMS2NM_000535.6(PMS2): c.2445+1G> Tsingle nucleotide variantPathogenicrs876661113GRCh38Chr 7, 5977587: 5977587
125MSH6NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs)deletionPathogenicrs878853702GRCh37Chr 2, 48026472: 48026473
126MSH6NM_000179.2(MSH6): c.1570_1571insC (p.Tyr524Serfs)insertionPathogenicrs878853709GRCh37Chr 2, 48026692: 48026693
127MSH6NM_000179.2(MSH6): c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)indelPathogenicrs878853711GRCh38Chr 2, 47800039: 47800043
128MSH6NM_000179.2(MSH6): c.2680C> T (p.Gln894Ter)single nucleotide variantPathogenicrs878853718GRCh38Chr 2, 47800663: 47800663
129MSH6NM_000179.2(MSH6): c.2804_2805delCT (p.Ser935Terfs)deletionPathogenicrs878853721GRCh37Chr 2, 48027926: 48027927
130MSH6NM_000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs)duplicationPathogenicrs878853729GRCh38Chr 2, 47801146: 47801146
131MSH6NM_000179.2(MSH6): c.3477C> G (p.Tyr1159Ter)single nucleotide variantPathogenicrs398123231GRCh38Chr 2, 47804948: 47804948
132MSH6NM_000179.2(MSH6): c.3717_3721dupAAAAT (p.Cys1241Terfs)duplicationPathogenicrs878853736GRCh38Chr 2, 47806274: 47806278
133MSH6NM_000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs)duplicationPathogenicrs878853739GRCh37Chr 2, 48033653: 48033653
134MSH6NM_000179.2(MSH6): c.741delA (p.Lys247Asnfs)deletionPathogenicrs267608041GRCh37Chr 2, 48025863: 48025863
135MLH1NM_000249.3(MLH1): c.1441delA (p.Met481Trpfs)deletionPathogenicrs878853777GRCh37Chr 3, 37070306: 37070306
136MLH1NM_000249.3(MLH1): c.1456dupT (p.Ser486Phefs)duplicationPathogenicrs878853778GRCh37Chr 3, 37070321: 37070321
137MLH1NM_000249.3(MLH1): c.2044_2045delAT (p.Met682Valfs)deletionPathogenicrs878853785GRCh37Chr 3, 37090449: 37090450
138MLH1NM_000249.3(MLH1): c.38dupA (p.Thr14Aspfs)duplicationPathogenicrs63750057GRCh37Chr 3, 37035076: 37035076
139MLH1NM_000249.3(MLH1): c.826dupA (p.Ile276Asnfs)duplicationPathogenicrs878853792GRCh37Chr 3, 37059032: 37059032
140MLH1NM_000249.3(MLH1): c.961_962dupAG (p.Ser321Argfs)duplicationPathogenicrs878853794GRCh37Chr 3, 37061877: 37061878
141MSH2NM_000251.2(MSH2): c.1404_1410delCCTTGTA (p.Phe468Leufs)deletionPathogenicrs878853802GRCh38Chr 2, 47463048: 47463054
142MSH2NM_000251.2(MSH2): c.2150_2153delGTCA (p.Ser717Asnfs)deletionPathogenicrs878853809GRCh37Chr 2, 47703650: 47703653
143MSH2NM_000251.2(MSH2): c.340G> T (p.Glu114Ter)single nucleotide variantPathogenicrs878853815GRCh38Chr 2, 47408529: 47408529
144MSH2NM_000251.2(MSH2): c.790C> T (p.Gln264Ter)single nucleotide variantPathogenicrs878853824GRCh37Chr 2, 47639697: 47639697
145PMS2NM_000535.6(PMS2): c.1500dupC (p.Val501Argfs)duplicationPathogenicrs878854035GRCh38Chr 7, 5987265: 5987265
146PMS2NM_000535.6(PMS2): c.1591G> T (p.Glu531Ter)single nucleotide variantPathogenicrs878854037GRCh37Chr 7, 6026805: 6026805
147PMS2NM_000535.6(PMS2): c.2276-?_*160+?deldeletionPathogenic
148PMS2NM_000535.6(PMS2): c.947_948delAC (p.His316Profs)deletionPathogenicrs878854060GRCh38Chr 7, 5992013: 5992014
149EPCAMNM_002354.2(EPCAM): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs878854485GRCh37Chr 2, 47600658: 47600658
150EPCAMNM_002354.2(EPCAM): c.429G> A (p.Trp143Ter)single nucleotide variantPathogenicrs878854488GRCh38Chr 2, 47375237: 47375237
151EPCAMNM_002354.2(EPCAM): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs878854491GRCh37Chr 2, 47604184: 47604184
152MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
153MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
154MLH1NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter)single nucleotide variantPathogenicrs63750540GRCh37Chr 3, 37067470: 37067470
155MLH1NM_000249.3(MLH1): c.298C> T (p.Arg100Ter)single nucleotide variantPathogenicrs63751221GRCh37Chr 3, 37042536: 37042536
156MLH1NM_000249.3(MLH1): c.454-1G> Asingle nucleotide variantPathogenicrs193922370GRCh37Chr 3, 37050304: 37050304
157MSH2NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs63750245GRCh37Chr 2, 47643522: 47643522
158MSH2NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs)deletionPathogenicrs63750393GRCh37Chr 2, 47698147: 47698148
159MSH2NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter)single nucleotide variantPathogenicrs63749932GRCh37Chr 2, 47703538: 47703538
160MSH2NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs)duplicationLikely pathogenic, Pathogenicrs193922375GRCh37Chr 2, 47641475: 47641475
161MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
162MSH6NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs)deletionPathogenicrs193922343GRCh37Chr 2, 48033395: 48033398
163MSH6NM_000179.2(MSH6): c.3173-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397515875GRCh37Chr 2, 48030558: 48030558
164MSH6NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter)single nucleotide variantPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
165NM_000179.2(MSH6): c.(?_-152)_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48010221: 48034092
166MSH6NM_000179.2(MSH6): c.(?_-152)_457+?deldeletionPathogenicGRCh37Chr 2, 48010221: 48018262
167MSH6NM_000179.2(MSH6): c.-11863_457+1921deldeletionPathogenic
168MSH6NM_000179.2(MSH6): c.-3097_457+2010deldeletionPathogenicGRCh37Chr 2, 48007276: 48020272
169MSH6NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs)deletionPathogenicrs267608056GRCh37Chr 2, 48026207: 48026207
170MSH6NM_000179.2(MSH6): c.1101delT (p.His367Glnfs)deletionPathogenicrs587779203GRCh37Chr 2, 48026223: 48026223
171MSH6NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs)deletionPathogenicrs267608077GRCh37Chr 2, 48026257: 48026261
172MSH6NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs)deletionPathogenicrs587779206GRCh37Chr 2, 48026261: 48026265
173MSH6NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs)deletionPathogenicrs63750439GRCh37Chr 2, 48026312: 48026313
174MSH6NM_000179.2(MSH6): c.1193T> A (p.Val398Glu)single nucleotide variantPathogenicrs587779208GRCh37Chr 2, 48026315: 48026315
175MSH6NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs)deletionPathogenicrs587779209GRCh37Chr 2, 48026398: 48026398
176MSH6NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter)single nucleotide variantPathogenicrs267608055GRCh37Chr 2, 48026421: 48026421
177MSH6NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro)single nucleotide variantPathogenicrs63750741GRCh37Chr 2, 48026468: 48026468
178MSH6NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs)duplicationPathogenicrs63750854GRCh37Chr 2, 48026543: 48026544
179MSH6NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
180MSH6NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter)single nucleotide variantPathogenicrs267608046GRCh37Chr 2, 48026599: 48026599
181MSH6NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs587779212GRCh37Chr 2, 48026605: 48026605
182MSH6NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter)single nucleotide variantPathogenicrs587779215GRCh37Chr 2, 48026694: 48026694
183MSH6NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs)deletionPathogenicrs63751090GRCh37Chr 2, 48026702: 48026702
184MSH6NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs)deletionPathogenicrs587779216GRCh37Chr 2, 48026712: 48026712
185MSH6NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs)duplicationPathogenicrs587779217GRCh37Chr 2, 48026718: 48026718
186MSH6NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter)indelPathogenicrs267608049GRCh37Chr 2, 48026736: 48026737
187MSH6NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs)indelPathogenicrs587779218GRCh37Chr 2, 48026736: 48026737
188MSH6NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs)deletionPathogenicrs587779219GRCh37Chr 2, 48026750: 48026751
189MSH6NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs)deletionPathogenicrs267608064GRCh37Chr 2, 48026754: 48026757
190MSH6NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs)deletionPathogenicrs63749874GRCh37Chr 2, 48026756: 48026759
191MSH6NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs)deletionPathogenicrs267608076GRCh37Chr 2, 48026759: 48026760
192MSH6NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs)deletionPathogenicrs267608050GRCh37Chr 2, 48026906: 48026906
193MSH6NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs)deletionPathogenicrs63750735GRCh37Chr 2, 48026928: 48026931
194MSH6NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs)duplicationPathogenicrs587779221GRCh37Chr 2, 48026941: 48026941
195MSH6NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter)single nucleotide variantPathogenicrs63750564GRCh37Chr 2, 48026957: 48026957
196MSH6NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs)deletionPathogenicrs71539659GRCh37Chr 2, 48026991: 48026991
197MSH6NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs)deletionPathogenicrs267608082GRCh37Chr 2, 48027023: 48027024
198MSH6NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs)duplicationPathogenicrs63751167GRCh37Chr 2, 48027079: 48027082
199MSH6NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs)deletionPathogenicrs267608057GRCh37Chr 2, 48027167: 48027168
200MSH6NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs)duplicationPathogenicrs587779226GRCh37Chr 2, 48027172: 48027173
201MSH6NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter)single nucleotide variantPathogenicrs267608068GRCh37Chr 2, 48027183: 48027183
202MSH6NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs)deletionPathogenicrs63750075GRCh37Chr 2, 48027184: 48027185
203MSH6NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter)single nucleotide variantPathogenicrs63751419GRCh37Chr 2, 48027227: 48027227
204MSH6NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter)single nucleotide variantPathogenicrs587779232GRCh37Chr 2, 48027249: 48027249
205MSH6NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
206MSH6NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter)single nucleotide variantPathogenicrs63751442GRCh37Chr 2, 48027313: 48027313
207MSH6NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter)single nucleotide variantPathogenicrs63751127GRCh37Chr 2, 48027316: 48027316
208MSH6NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter)single nucleotide variantPathogenicrs587779234GRCh37Chr 2, 48027452: 48027452
209MSH6NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs)deletionPathogenicrs267608065GRCh37Chr 2, 48027470: 48027471
210MSH6NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs)deletionPathogenicrs587779237GRCh37Chr 2, 48027501: 48027502
211MSH6NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter)single nucleotide variantPathogenicrs63751321GRCh37Chr 2, 48027625: 48027625
212MSH6NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
213MSH6NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs)deletionPathogenicrs587779243GRCh37Chr 2, 48027691: 48027694
214MSH6NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs)duplicationPathogenicrs63750357GRCh37Chr 2, 48027733: 48027736
215MSH6NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs)indelPathogenicrs587779244GRCh37Chr 2, 48027794: 48027796
216MSH6NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter)single nucleotide variantPathogenicrs587779245GRCh37Chr 2, 48027836: 48027836
217MSH6NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs)deletionPathogenicrs63750904GRCh37Chr 2, 48027841: 48027842
218MSH6NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
219MSH6NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter)single nucleotide variantPathogenicrs587779246GRCh37Chr 2, 48027886: 48027886
220MSH6NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs)deletionPathogenicrs587779247GRCh37Chr 2, 48027887: 48027887
221MSH6NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs)duplicationPathogenicrs267608063GRCh37Chr 2, 48027890: 48027890
222MSH6NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter)single nucleotide variantPathogenicrs63750140GRCh37Chr 2, 48027937: 48027937
223MSH6NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh38Chr 2, 47798634: 47798634
224MSH6NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs)deletionPathogenicrs63750940GRCh37Chr 2, 48027973: 48027980
225MSH6NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter)single nucleotide variantPathogenicrs63750111GRCh37Chr 2, 48028053: 48028053
226MSH6NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs)deletionPathogenicrs587779250GRCh37Chr 2, 48028067: 48028067
227MSH6NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs)deletionPathogenicrs587779251GRCh37Chr 2, 48028098: 48028098
228MSH6NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs63750258GRCh37Chr 2, 48028105: 48028105
229MSH6NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs)deletionPathogenicrs63749938GRCh37Chr 2, 48028106: 48028106
230MSH6NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter)single nucleotide variantPathogenicrs63750563GRCh37Chr 2, 48028135: 48028135
231MSH6NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter)single nucleotide variantPathogenicrs587779252GRCh37Chr 2, 48028142: 48028142
232MSH6NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
233MSH6NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter)single nucleotide variantPathogenicrs267608059GRCh37Chr 2, 48028189: 48028189
234MSH6NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter)single nucleotide variantPathogenicrs63749999GRCh37Chr 2, 48028225: 48028225
235MSH6NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs)deletionPathogenicrs267608042GRCh37Chr 2, 48028241: 48028242
236MSH6NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs)deletionPathogenicrs63750833GRCh37Chr 2, 48028277: 48028278
237MSH6NM_000179.2(MSH6): c.3172+1G> Tsingle nucleotide variantLikely pathogenicrs587779255GRCh37Chr 2, 48028295: 48028295
238MSH6NM_000179.2(MSH6): c.3173-1_3173deldeletionPathogenicrs587779256GRCh37Chr 2, 48030558: 48030559
239MSH6NM_000179.2(MSH6): c.3173-433_3556+228deldeletionPathogenicGRCh37Chr 2, 48030126: 48032394
240MSH6NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs)deletionPathogenicrs63750196GRCh37Chr 2, 48030568: 48030568
241MSH6NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs)deletionPathogenicrs267608085GRCh37Chr 2, 48030581: 48030584
242MSH6NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs)duplicationPathogenicrs63749821GRCh37Chr 2, 48030584: 48030585
243MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
244MSH6NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs)deletionPathogenicrs267608090GRCh37Chr 2, 48030607: 48030607
245MSH6NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs)insertionPathogenicrs587779258GRCh37Chr 2, 48030645: 48030646
246MSH6NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs)deletionPathogenicrs267608078GRCh37Chr 2, 48030647: 48030647
247MSH6NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
248MSH6NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs)duplicationPathogenicrs267608091GRCh37Chr 2, 48030649: 48030649
249MSH6NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs)deletionPathogenicrs587779259GRCh37Chr 2, 48030654: 48030660
250MSH6NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs)duplicationPathogenicrs267608095GRCh37Chr 2, 48030659: 48030659
251MSH6NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
252MSH6NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs)deletionPathogenicrs267608093GRCh37Chr 2, 48030698: 48030698
253MSH6NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs)deletionPathogenicrs63750377GRCh37Chr 2, 48030706: 48030706
254MSH6NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs)duplicationPathogenicrs267608088GRCh37Chr 2, 48030710: 48030710
255MSH6NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs)insertionPathogenicrs587779260GRCh37Chr 2, 48030727: 48030728
256MSH6NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter)single nucleotide variantPathogenicrs267608084GRCh37Chr 2, 48030741: 48030741
257MSH6NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter)single nucleotide variantPathogenicrs267608086GRCh37Chr 2, 48030753: 48030753
258MSH6NM_000179.2(MSH6): c.3379_3438+5del65deletionPathogenicGRCh37Chr 2, 48030765: 48030829
259MSH6NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs63750356GRCh37Chr 2, 48030822: 48030822
260MSH6NM_000179.2(MSH6)insertionPathogenic
261MSH6NM_000179.2(MSH6): c.3439-1G> Tsingle nucleotide variantLikely pathogenicrs587779263GRCh37Chr 2, 48032048: 48032048
262MSH6NM_000179.2(MSH6): c.3439-2A> Gsingle nucleotide variantLikely pathogenicrs267608098GRCh37Chr 2, 48032047: 48032047
263MSH6NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter)single nucleotide variantPathogenicrs587779267GRCh37Chr 2, 48032097: 48032097
264MSH6NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs)deletionPathogenicrs63751410GRCh37Chr 2, 48032121: 48032122
265MSH6NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs)deletionPathogenicrs63750194GRCh37Chr 2, 48032123: 48032124
266MSH6NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
267MSH6NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs)deletionPathogenicrs267608099GRCh37Chr 2, 48032126: 48032129
268MSH6NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs)insertionPathogenicrs63750296GRCh37Chr 2, 48032129: 48032130
269MSH6NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs)duplicationPathogenicrs267608101GRCh37Chr 2, 48032129: 48032132
270NM_000179.2(MSH6): c.3557-?_(*93_?)deldeletionPathogenicGRCh37Chr 2, 48032167: 48034093
271MSH6NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs)deletionPathogenicrs587779274GRCh37Chr 2, 48032809: 48032812
272MSH6NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs)duplicationPathogenicrs63750731GRCh37Chr 2, 48032835: 48032835
273MSH6NM_000179.2(MSH6): c.3647-1G> Asingle nucleotide variantPathogenicrs587779279GRCh37Chr 2, 48033342: 48033342
274MSH6NM_000179.2(MSH6): c.3647-2A> Csingle nucleotide variantPathogenicrs267608111GRCh37Chr 2, 48033341: 48033341
275MSH6NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs)duplicationPathogenicrs63750523GRCh37Chr 2, 48033374: 48033402
276MSH6NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs)deletionPathogenicrs587779287GRCh37Chr 2, 48033421: 48033433
277MSH6NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs)duplicationPathogenicrs587779288GRCh37Chr 2, 48033425: 48033428
278MSH6NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs)insertionPathogenicrs587779289GRCh37Chr 2, 48033453: 48033454
279MSH6NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter)single nucleotide variantPathogenicrs63751058GRCh37Chr 2, 48033464: 48033464
280MSH6NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter)single nucleotide variantPathogenicrs63750554GRCh37Chr 2, 48033468: 48033468
281MSH6NM_000179.2(MSH6): c.3798_3801+26deldeletionPathogenicrs587779291GRCh37Chr 2, 48033494: 48033523
282MSH6NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs)deletionPathogenicrs267608114GRCh37Chr 2, 48033495: 48033496
283MSH6NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs)duplicationPathogenicrs267608118GRCh37Chr 2, 48033593: 48033593
284MSH6NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs)duplicationPathogenicrs63750262GRCh37Chr 2, 48033610: 48033613
285MSH6NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter)single nucleotide variantPathogenicrs63750139GRCh37Chr 2, 48033627: 48033627
286MSH6NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
287MSH6NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs)duplicationPathogenicrs267608128GRCh37Chr 2, 48033636: 48033639
288MSH6NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs)deletionPathogenicrs267608130GRCh37Chr 2, 48033676: 48033682
289MSH6NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs)duplicationPathogenicrs587779295GRCh37Chr 2, 48033707: 48033707
290MSH6NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs)duplicationPathogenicrs587779296GRCh37Chr 2, 48033709: 48033716
291MSH6NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs)duplicationPathogenicrs267608127GRCh37Chr 2, 48033721: 48033724
292MSH6NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs)duplicationPathogenicrs267608126GRCh37Chr 2, 48033727: 48033730
293MSH6NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs)duplicationPathogenicrs63750767GRCh37Chr 2, 48033728: 48033746
294MSH6NM_000179.2(MSH6): c.3953_3954ins32 (p.?)insertionPathogenicrs587779297GRCh37Chr 2, 48033742: 48033743
295MSH6NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751
296MSH6NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs)deletionPathogenicrs587779299GRCh37Chr 2, 48033758: 48033768
297MSH6NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs)insertionPathogenicrs267608124GRCh37Chr 2, 48033773: 48033774
298MSH6NM_025133.4(FBXO11): c.*1481_*1484dupTGACduplicationPathogenicrs267608121GRCh37Chr 2, 48033773: 48033776
299MSH6NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs)duplicationPathogenicrs587779301GRCh37Chr 2, 48033785: 48033789
300MSH6NM_000179.2(MSH6): c.4001+2T> Csingle nucleotide variantPathogenicrs267608131GRCh37Chr 2, 48033792: 48033792
301MSH6NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln)single nucleotide variantPathogenicrs267608122GRCh37Chr 2, 48033790: 48033790
302MSH6NM_000179.2(MSH6): c.4002-31_4002-8invinversionPathogenicGRCh37Chr 2, 48033887: 48033910
303MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
304MSH6NM_000179.2(MSH6): c.457+2T> Asingle nucleotide variantPathogenicrs267608036GRCh37Chr 2, 48018264: 48018264
305MSH6NM_000179.2(MSH6): c.458-?_627+?deldeletionPathogenic
306MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
307MSH6NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs)deletionPathogenicrs267608037GRCh37Chr 2, 48023097: 48023098
308MSH6NM_000179.2(MSH6): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs63751077GRCh37Chr 2, 48023174: 48023174
309MSH6NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
310MSH6NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter)single nucleotide variantPathogenicrs1800937GRCh37Chr 2, 48025764: 48025764
311MSH6NM_000179.2(MSH6): c.652A> T (p.Lys218Ter)single nucleotide variantPathogenicrs587779315GRCh38Chr 2, 47798635: 47798635
312MSH6NM_000179.2(MSH6): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs587779318GRCh37Chr 2, 48025816: 48025816
313MSH6NM_000179.2(MSH6): c.706C> T (p.Gln236Ter)single nucleotide variantPathogenicrs63750996GRCh37Chr 2, 48025828: 48025828
314MSH6NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs)deletionPathogenicrs587779319GRCh37Chr 2, 48025832: 48025832
315MSH6NM_000179.2(MSH6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs63750019GRCh37Chr 2, 48025840: 48025840
316MSH6NM_000179.2(MSH6): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs267608066GRCh37Chr 2, 48025852: 48025852
317MSH6NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs)insertionPathogenicrs587779320GRCh37Chr 2, 48025860: 48025861
318MSH6NM_000179.2(MSH6): c.742C> T (p.Arg248Ter)single nucleotide variantPathogenicrs63749980GRCh37Chr 2, 48025864: 48025864
319MSH6NM_000179.2(MSH6): c.755C> G (p.Ser252Ter)single nucleotide variantPathogenicrs267608048GRCh37Chr 2, 48025877: 48025877
320MSH6NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs)deletionPathogenicrs267608072GRCh37Chr 2, 48025884: 48025885
321MSH6NM_000179.2(MSH6): c.814G> T (p.Glu272Ter)single nucleotide variantPathogenicrs63750552GRCh37Chr 2, 48025936: 48025936
322MSH6NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs)duplicationPathogenicrs267608062GRCh37Chr 2, 48025967: 48025967
323MSH6NM_000179.2(MSH6): c.892C> T (p.Arg298Ter)single nucleotide variantPathogenicrs146816935GRCh37Chr 2, 48026014: 48026014
324MLH1NM_000249.3(MLH1): c.(?_-198)_(*193_?)deldeletionPathogenicGRCh38Chr 3, 36993350: 37050846
325MLH1NM_000249.3(MLH1): c.(?_-198)_116+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37035154
326MLH1NM_000249.3(MLH1): c.(?_-198)_1558+?deldeletionPathogenicGRCh37Chr 3, 37034840: 37070424
327MLH1MLH1: c.(?_-198)_207+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37038200
328MLH1MLH1: c.(?_-198)_306+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37042544
329MLH1NM_000249.3(MLH1): c.(?_-198)_545+?deldeletionPathogenicGRCh37Chr 3, 37034841: 37050396
330MLH1NM_000249.3(MLH1): c.(?_-198)_884+?deldeletionPathogenicGRCh38Chr 3, 36993350: 37017599
331NM_000249.3(MLH1): c.-381_207+606deldeletionPathogenicGRCh37Chr 3, 37034658: 37038806
332NM_000249.3(MLH1): c.-54519_1731+2263deldeletionPathogenicGRCh38Chr 3, 36939029: 37044594
333MLH1NM_000249.3(MLH1): c.-73960_*46597deldeletionPathogenic
334MLH1NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs)deletionPathogenicrs63750434GRCh37Chr 3, 37061923: 37061923
335MLH1NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs)deletionPathogenicrs63750853GRCh37Chr 3, 37061927: 37061927
336MLH1NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs)duplicationPathogenicrs63750677GRCh37Chr 3, 37061927: 37061927
337MLH1NM_000249.3(MLH1): c.1017delC (p.Ser340Profs)deletionPathogenicrs63750339GRCh37Chr 3, 37061933: 37061933
338MLH1NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs)deletionPathogenicrs63749837GRCh37Chr 3, 37061939: 37061939
339MLH1NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs)duplicationPathogenicrs587778881GRCh37Chr 3, 37061942: 37061942
340MLH1NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs)deletionPathogenicrs63749813GRCh37Chr 3, 37035140: 37035141
341MLH1NM_000249.3(MLH1): c.1038G> A (p.Gln346=)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
342MLH1NM_000249.3(MLH1): c.1038G> C (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
343MLH1NM_000249.3(MLH1): c.1038G> T (p.Gln346His)single nucleotide variantPathogenicrs63751715GRCh37Chr 3, 37061954: 37061954
344MLH1NM_000249.3(MLH1): c.1039-1G> Asingle nucleotide variantPathogenicrs267607819GRCh37Chr 3, 37067127: 37067127
345MLH1NM_000249.3(MLH1): c.1039-2329_1409+827deldeletionPathogenicGRCh37Chr 3, 37064799: 37068325
346MLH1NM_000249.3(MLH1): c.1039-675_1409+26deldeletionPathogenicGRCh37Chr 3, 37066453: 37067524
347MLH1NM_000249.3(MLH1): c.1039-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37067128: 37092337
348MLH1NM_000249.3(MLH1): c.1039-?_1409+?deldeletionPathogenic
349MLH1NM_000249.3(MLH1): c.1039-?_1558+?deldeletionPathogenic
350MLH1NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs)duplicationPathogenicrs267607822GRCh37Chr 3, 37067135: 37067135
351MLH1NM_000249.3(MLH1): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs63749906GRCh37Chr 3, 37035142: 37035142
352MLH1NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs)insertionPathogenicrs587778882GRCh37Chr 3, 37035142: 37035143
353MLH1NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs)deletionPathogenicrs587778883GRCh37Chr 3, 37067139: 37067139
354MLH1NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs)deletionPathogenicrs63750472GRCh37Chr 3, 37067150: 37067150
355MLH1NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs)deletionPathogenicrs587778884GRCh37Chr 3, 37067160: 37067167
356MLH1NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs)deletionPathogenicrs587778885GRCh37Chr 3, 37067161: 37067161
357MLH1NM_000249.3(MLH1): c.109G> T (p.Glu37Ter)single nucleotide variantPathogenicrs63751012GRCh37Chr 3, 37035147: 37035147
358MLH1NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs)deletionPathogenicrs63750715GRCh38Chr 3, 37025699: 37025699
359MLH1NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs)duplicationPathogenicrs63750305GRCh37Chr 3, 37067217: 37067218
360MLH1NM_000249.3(MLH1): c.112A> C (p.Asn38His)single nucleotide variantPathogenicrs63750580GRCh37Chr 3, 37035150: 37035150
361MLH1NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs)indelPathogenicrs587778887GRCh37Chr 3, 37067221: 37067223
362MLH1NM_000249.3(MLH1): c.113A> G (p.Asn38Ser)single nucleotide variantPathogenicrs587778888GRCh37Chr 3, 37035151: 37035151
363MLH1NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs)duplicationPathogenicrs587778889GRCh37Chr 3, 37067234: 37067234
364MLH1NM_000249.3(MLH1): c.114C> G (p.Asn38Lys)single nucleotide variantPathogenicrs267607706GRCh37Chr 3, 37035152: 37035152
365MLH1NM_000249.3(MLH1): c.1150delG (p.Val384Phefs)deletionPathogenicrs63749965GRCh37Chr 3, 37067239: 37067239
366MLH1NM_000249.3(MLH1): c.116+5G> Csingle nucleotide variantPathogenicrs267607710GRCh37Chr 3, 37035159: 37035159
367MLH1NM_000249.3(MLH1): c.1163_1164ins4insertionPathogenicrs587778893GRCh37Chr 3, 37067252: 37067253
368MLH1NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr)single nucleotide variantLikely pathogenicrs63751701GRCh37Chr 3, 37035154: 37035154
369MLH1NM_000249.3(MLH1): c.117-691_306+1011deldeletionPathogenicGRCh37Chr 3, 37037419: 37043555
370MLH1NM_000249.3(MLH1)indelPathogenicGRCh37Chr 3, 37037403: 37051734
371MLH1NM_000249.3(MLH1): c.117-?_207+?deldeletionPathogenic
372MLH1NM_000249.3(MLH1): c.117-?_380+?deldeletionPathogenic
373MLH1NM_000249.3(MLH1): c.117-?_545+?deldeletionPathogenic
374MLH1NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter)single nucleotide variantPathogenicrs587778894GRCh37Chr 3, 37067260: 37067260
375MLH1NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs)deletionPathogenicrs63750749GRCh37Chr 3, 37067279: 37067279
376MLH1NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs63750483GRCh37Chr 3, 37067281: 37067281
377MLH1NM_000249.3(MLH1): c.119delT (p.Leu40Terfs)deletionPathogenicrs587778896GRCh37Chr 3, 37038112: 37038112
378MLH1NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs)deletionPathogenicrs63751015GRCh37Chr 3, 37067299: 37067300
379MLH1NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs)duplicationPathogenicrs587778898GRCh37Chr 3, 37067299: 37067299
380MLH1NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs)duplicationPathogenicrs587778899GRCh37Chr 3, 37067306: 37067312
381MLH1NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs)deletionPathogenicrs587778900GRCh37Chr 3, 37067307: 37067307
382MLH1NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter)single nucleotide variantPathogenicrs63751153GRCh37Chr 3, 37067314: 37067314
383MLH1NM_000249.3(MLH1): c.122A> G (p.Asp41Gly)single nucleotide variantPathogenicrs63751094GRCh37Chr 3, 37038115: 37038115
384MLH1NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs)deletionPathogenicrs63751118GRCh37Chr 3, 37067341: 37067342
385MLH1NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs)deletionPathogenicrs63750293GRCh37Chr 3, 37067350: 37067350
386MLH1NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs63750316GRCh37Chr 3, 37067365: 37067365
387MLH1NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs)duplicationPathogenicrs63751431GRCh37Chr 3, 37038121: 37038124
388MLH1NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs)deletionPathogenicrs63750748GRCh37Chr 3, 37067399: 37067399
389MLH1NM_000249.3(MLH1): c.1325_1346del22ins5indelPathogenicrs587778903GRCh37Chr 3, 37067414: 37067435
390MLH1NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs)deletionPathogenicrs63749845GRCh37Chr 3, 37067423: 37067423
391MLH1NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs)deletionPathogenicrs63749981GRCh37Chr 3, 37067432: 37067432
392MLH1NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs)indelPathogenicrs587778905GRCh37Chr 3, 37067436: 37067456
393MLH1NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs)duplicationPathogenicrs587778906GRCh37Chr 3, 37067437: 37067437
394MLH1NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs)deletionPathogenicrs63750071GRCh37Chr 3, 37067443: 37067443
395MLH1NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs)deletionPathogenicrs587778907GRCh37Chr 3, 37067451: 37067451
396MLH1NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs)duplicationPathogenicrs267607821GRCh37Chr 3, 37067451: 37067451
397MLH1NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs)deletionPathogenicrs587778908GRCh37Chr 3, 37067466: 37067466
398MLH1NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs)duplicationPathogenicrs63750020GRCh37Chr 3, 37067466: 37067466
399MLH1NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs)deletionPathogenicrs587778909GRCh37Chr 3, 37067469: 37067470
400MLH1NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs)deletionPathogenicrs63750713GRCh37Chr 3, 37067487: 37067487
401MLH1NM_000249.3(MLH1): c.1409+1127_1558+4255deldeletionPathogenicGRCh37Chr 3, 37068625: 37074678
402MLH1NM_000249.3(MLH1): c.1409+1156_1558+1385deldeletionPathogenicGRCh37Chr 3, 37068654: 37071808
403MLH1NM_000249.3(MLH1): c.1409+1G> Asingle nucleotide variantLikely pathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
404MLH1NM_000249.3(MLH1): c.1409+1G> Csingle nucleotide variantPathogenicrs267607825GRCh37Chr 3, 37067499: 37067499
405MLH1NM_000249.3(MLH1): c.1410-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37070275: 37092337
406MLH1NM_000249.3(MLH1): c.1410-?_1558+?deldeletionPathogenic
407MLH1NM_000249.3(MLH1): c.1410-?_1731+?deldeletionPathogenic
408MLH1NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs)deletionPathogenicrs63751592GRCh37Chr 3, 37070276: 37070279
409MLH1NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs)duplicationPathogenicrs63751677GRCh37Chr 3, 37070277: 37070277
410MLH1NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs)deletionPathogenicrs281864936GRCh37Chr 3, 37070278: 37070281
411MLH1NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs)duplicationPathogenicrs63751468GRCh37Chr 3, 37070279: 37070279
412MLH1NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs)deletionPathogenicrs281864937GRCh37Chr 3, 37070280: 37070281
413MLH1NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs)deletionPathogenicrs587778912GRCh37Chr 3, 37070280: 37070292
414MLH1NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs)deletionPathogenicrs63750482GRCh37Chr 3, 37070285: 37070285
415MLH1NM_000249.3(MLH1): c.142C> T (p.Gln48Ter)single nucleotide variantPathogenicrs587778913GRCh37Chr 3, 37038135: 37038135
416MLH1NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs)deletionPathogenicrs587778915GRCh37Chr 3, 37070314: 37070314
417MLH1NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter)single nucleotide variantPathogenicrs63749795GRCh37Chr 3, 37070324: 37070324
418MLH1NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter)single nucleotide variantPathogenicrs587778918GRCh37Chr 3, 37070327: 37070327
419MLH1NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs)deletionPathogenicrs63749876GRCh37Chr 3, 37070328: 37070328
420MLH1NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs)deletionPathogenicrs587778919GRCh37Chr 3, 37070329: 37070333
421MLH1NM_000249.3(MLH1): c.146T> A (p.Val49Glu)single nucleotide variantPathogenicrs63750098GRCh37Chr 3, 37038139: 37038139
422MLH1NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs)deletionPathogenicrs63750855GRCh37Chr 3, 37070354: 37070354
423MLH1NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs)duplicationPathogenicrs63751031GRCh37Chr 3, 37070354: 37070354
424MLH1NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs)deletionPathogenicrs63751435GRCh37Chr 3, 37070356: 37070356
425MLH1NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs)duplicationPathogenicrs63749956GRCh37Chr 3, 37038143: 37038143
426MLH1NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs)deletionPathogenicrs587778921GRCh37Chr 3, 37070385: 37070385
427MLH1NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs)duplicationPathogenicrs63749916GRCh37Chr 3, 37070385: 37070385
428MLH1NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs63749923GRCh37Chr 3, 37070393: 37070393
429MLH1NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter)single nucleotide variantPathogenicrs63751472GRCh37Chr 3, 37070399: 37070399
430MLH1NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs)duplicationPathogenicrs587778922GRCh37Chr 3, 37038146: 37038146
431MLH1NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs)duplicationPathogenicrs63750317GRCh37Chr 3, 37070407: 37070407
432MLH1NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter)single nucleotide variantPathogenicrs63751705GRCh37Chr 3, 37070414: 37070414
433MLH1NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs)insertionPathogenicrs587778924GRCh37Chr 3, 37070417: 37070418
434MLH1NM_000249.3(MLH1): c.1552delC (p.His518Metfs)deletionPathogenicrs587778925GRCh37Chr 3, 37070417: 37070417
435MLH1NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs)duplicationPathogenicrs63751689GRCh37Chr 3, 37070419: 37070419
436MLH1NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs)insertionPathogenicrs587778926GRCh37Chr 3, 37070422: 37070423
437MLH1NM_000249.3(MLH1): c.1558+1G> Tsingle nucleotide variantPathogenicrs267607832GRCh37Chr 3, 37070424: 37070424
438MLH1NM_000249.3(MLH1): c.1559-1322_1668-391deldeletionPathogenicGRCh37Chr 3, 37080355: 37083368
439MLH1NM_000249.3(MLH1): c.1559-1G> Tsingle nucleotide variantPathogenicrs267607837GRCh37Chr 3, 37081676: 37081676
440MLH1NM_000249.3(MLH1): c.1559-2A> Gsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
441MLH1NM_000249.3(MLH1): c.1559-2A> Tsingle nucleotide variantPathogenicrs267607836GRCh37Chr 3, 37081675: 37081675
442MLH1NM_000249.3(MLH1): c.1559-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37081677: 37092337
443MLH1NM_000249.3(MLH1): c.1559-?_1667+?deldeletionPathogenic
444MLH1NM_000249.3(MLH1): c.1559-?_1731+?deldeletionPathogenic
445MLH1NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs)deletionPathogenicrs587778923GRCh37Chr 3, 37038148: 37038151
446MLH1NM_000249.3(MLH1): c.156delA (p.Glu53Argfs)deletionPathogenicrs587778927GRCh37Chr 3, 37038149: 37038149
447MLH1NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs)duplicationPathogenicrs63750028GRCh37Chr 3, 37038149: 37038149
448MLH1NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs)deletionPathogenicrs587778928GRCh37Chr 3, 37081690: 37081691
449MLH1NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs)deletionPathogenicrs63751613GRCh37Chr 3, 37081691: 37081692
450MLH1NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter)single nucleotide variantPathogenicrs587778929GRCh37Chr 3, 37081692: 37081692
451MLH1NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del)deletionPathogenicrs587778930GRCh37Chr 3, 37081706: 37081708
452MLH1NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs)deletionPathogenicrs587778931GRCh37Chr 3, 37081710: 37081711
453MLH1NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs)deletionPathogenicrs63751891GRCh37Chr 3, 37035053: 37035066
454MLH1NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter)single nucleotide variantPathogenicrs63751277GRCh37Chr 3, 37081727: 37081727
455MLH1NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter)single nucleotide variantPathogenicrs587778933GRCh37Chr 3, 37081731: 37081731
456MLH1NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter)single nucleotide variantPathogenicrs267607842GRCh37Chr 3, 37081732: 37081732
457MLH1NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs)deletionPathogenicrs587778932GRCh37Chr 3, 37038154: 37038157
458MLH1NM_000249.3(MLH1): c.161delG (p.Gly54Glufs)deletionPathogenicrs63751266GRCh37Chr 3, 37038154: 37038154
459MLH1NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs)deletionPathogenicrs63750036GRCh37Chr 3, 37081738: 37081739
460MLH1NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs)deletionPathogenicrs63750824GRCh37Chr 3, 37081740: 37081740
461MLH1NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs63750192GRCh37Chr 3, 37081742: 37081742
462MLH1NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs)duplicationPathogenicrs587778934GRCh37Chr 3, 37081757: 37081761
463MLH1NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter)single nucleotide variantPathogenicrs63750300GRCh37Chr 3, 37081758: 37081758
464MLH1NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter)single nucleotide variantPathogenicrs63751087GRCh37Chr 3, 37081762: 37081762
465MLH1NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs)insertionPathogenicrs267607699GRCh37Chr 3, 37081782: 37081783
466MLH1NM_000249.3(MLH1): c.1667+2_1667+8delinsATTTindelPathogenicrs587778938GRCh37Chr 3, 37081787: 37081793
467MLH1NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile)single nucleotide variantPathogenicrs63751596GRCh37Chr 3, 37081785: 37081785
468MLH1NM_000249.3(MLH1): c.1668-1G> Asingle nucleotide variantLikely pathogenicrs267607845GRCh37Chr 3, 37083758: 37083758
469MLH1NM_000249.3(MLH1): c.1668-?_1731+?deldeletionPathogenic
470MLH1NM_000249.3(MLH1): c.1668-?_1896+?deldeletionPathogenic
471MLH1NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs)deletionPathogenicrs587778939GRCh37Chr 3, 37083759: 37083759
472MLH1NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs63751244GRCh37Chr 3, 37083760: 37083760
473MLH1NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicrs63751081GRCh37Chr 3, 37083763: 37083763
474MLH1NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter)single nucleotide variantPathogenicrs63751393GRCh37Chr 3, 37083774: 37083774
475MLH1NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter)single nucleotide variantPathogenicrs63751460GRCh37Chr 3, 37083775: 37083775
476MLH1NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs)duplicationPathogenicrs63750464GRCh37Chr 3, 37083780: 37083780
477MLH1NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs)deletionPathogenicrs267607849GRCh37Chr 3, 37083781: 37083784
478MLH1NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs)deletionPathogenicrs63751709GRCh37Chr 3, 37083808: 37083809
479MLH1NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs)deletionPathogenicrs63751685GRCh37Chr 3, 37083816: 37083816
480MLH1NM_000249.3(MLH1): c.1731+1G> Asingle nucleotide variantPathogenicrs267607853GRCh37Chr 3, 37083823: 37083823
481MLH1NM_000249.3(MLH1): c.1731+270_1896+73deldeletionPathogenicGRCh37Chr 3, 37084092: 37089247
482MLH1NM_000249.3(MLH1): c.1731+5G> Asingle nucleotide variantPathogenicrs267607850GRCh37Chr 3, 37083827: 37083827
483MLH1NM_000249.3(MLH1): c.1731+768_1897-222deldeletionPathogenicGRCh37Chr 3, 37084590: 37089786
484MLH1NM_000249.3(MLH1): c.1731G> A (p.Ser577=)single nucleotide variantPathogenicrs63751657GRCh37Chr 3, 37083822: 37083822
485MLH1NM_000249.3(MLH1): c.1732-1G> Asingle nucleotide variantPathogenicrs267607854GRCh37Chr 3, 37089009: 37089009
486MLH1NM_000249.3(MLH1): c.1732-2243_1896+404deldeletionPathogenicGRCh37Chr 3, 37086767: 37089578
487MLH1NM_000249.3(MLH1): c.1732-2A> Tsingle nucleotide variantPathogenicrs267607852GRCh37Chr 3, 37089008: 37089008
488MLH1NM_000249.3(MLH1): c.1732-?_(*193_?)deldeletionPathogenicGRCh38Chr 3, 37047519: 37050846
489MLH1NM_000249.3(MLH1): c.1732-?_1896+?deldeletionPathogenic
490MLH1NM_000249.3(MLH1): c.1732-?_2103+?deldeletionPathogenic
491MLH1NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs63751616GRCh37Chr 3, 37089023: 37089023
492MLH1NM_000249.3(MLH1): c.1745delT (p.Leu582Profs)deletionPathogenicrs587778942GRCh37Chr 3, 37089023: 37089023
493MLH1NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs)deletionPathogenicrs587778943GRCh37Chr 3, 37089026: 37089027
494MLH1NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs)deletionPathogenicrs63750309GRCh37Chr 3, 37089027: 37089027
495MLH1NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs)deletionPathogenicrs63749863GRCh37Chr 3, 37089036: 37089036
496MLH1NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs)duplicationPathogenicrs367543283GRCh37Chr 3, 37089036: 37089036
497MLH1NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs)duplicationPathogenicrs587778944GRCh37Chr 3, 37038168: 37038168
498MLH1NM_000249.3(MLH1): c.1764delT (p.Ala589Profs)deletionPathogenicrs63751486GRCh37Chr 3, 37089042: 37089042
499MLH1NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs)deletionPathogenicrs63749979GRCh37Chr 3, 37089047: 37089047
500MLH1NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs)deletionPathogenicrs63749868GRCh37Chr 3, 37089050: 37089053
501MLH1NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs)deletionPathogenicrs63750375GRCh37Chr 3, 37089056: 37089057
502MLH1NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs)deletionPathogenicrs63750035GRCh37Chr 3, 37089061: 37089062
503MLH1NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter)single nucleotide variantPathogenicrs63750604GRCh37Chr 3, 37089068: 37089068
504MLH1NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs)deletionPathogenicrs587778946GRCh37Chr 3, 37089078: 37089096
505MLH1NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter)single nucleotide variantPathogenicrs63750386GRCh37Chr 3, 37089088: 37089088
506MLH1NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs)duplicationPathogenicrs63751240GRCh37Chr 3, 37089090: 37089090
507MLH1NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs)duplicationPathogenicrs587778947GRCh37Chr 3, 37089099: 37089099
508MLH1NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs)duplicationPathogenicrs587778948GRCh37Chr 3, 37089107: 37089110
509MLH1NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs)deletionPathogenicrs63750150GRCh37Chr 3, 37089109: 37089110
510MLH1NM_000249.3(MLH1): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs63751428GRCh37Chr 3, 37038177: 37038177
511MLH1NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter)single nucleotide variantPathogenicrs35001569GRCh37Chr 3, 37089130: 37089130
512MLH1NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs)indelPathogenicrs587778949GRCh37Chr 3, 37089131: 37089131
513MLH1NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs)deletionPathogenicrs63749986GRCh37Chr 3, 37089133: 37089133
514MLH1NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs)deletionPathogenicrs587778950GRCh37Chr 3, 37089144: 37089144
515MLH1NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter)single nucleotide variantPathogenicrs63751415GRCh37Chr 3, 37089153: 37089153
516MLH1NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs)deletionPathogenicrs63751594GRCh37Chr 3, 37089155: 37089161
517MLH1NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs)deletionPathogenicrs63750152GRCh37Chr 3, 37089155: 37089155
518MLH1NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs)deletionPathogenicrs587778953GRCh37Chr 3, 37089158: 37089161
519MLH1NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs)deletionPathogenicrs63751639GRCh37Chr 3, 37089162: 37089166
520MLH1NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs)deletionPathogenicrs587778954GRCh37Chr 3, 37089171: 37089171
521MLH1NM_000249.3(MLH1): c.1896G> A (p.Glu632=)single nucleotide variantPathogenicrs63751632GRCh37Chr 3, 37089174: 37089174
522MLH1NM_000249.3(MLH1): c.1897-?_1989+?deldeletionPathogenic
523MLH1NM_000249.3(MLH1): c.189C> A (p.Asp63Glu)single nucleotide variantPathogenicrs587778955GRCh37Chr 3, 37038182: 37038182
524MLH1NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs)deletionPathogenicrs63751892GRCh37Chr 3, 37035056: 37035072
525MLH1NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs)deletionPathogenicrs587778956GRCh37Chr 3, 37090013: 37090013
526MLH1NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs)duplicationPathogenicrs587778957GRCh38Chr 3, 37048524: 37048524
527MLH1NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs)deletionPathogenicrs63750469GRCh37Chr 3, 37038183: 37038184
528MLH1NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs)duplicationPathogenicrs587778958GRCh37Chr 3, 37090024: 37090037
529MLH1NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs)duplicationPathogenicrs587778959GRCh37Chr 3, 37090025: 37090053
530MLH1NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs)duplicationPathogenicrs587778960GRCh37Chr 3, 37090027: 37090027
531MLH1NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs)duplicationPathogenicrs63751255GRCh37Chr 3, 37038184: 37038184
532MLH1NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs)insertionPathogenicrs587778961GRCh37Chr 3, 37090031: 37090032
533MLH1NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs)deletionPathogenicrs587778962GRCh37Chr 3, 37090041: 37090041
534MLH1NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu)single nucleotide variantPathogenicrs63750610GRCh37Chr 3, 37090054: 37090054
535MLH1NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs)deletionPathogenicrs281864938GRCh37Chr 3, 37090057: 37090057
536MLH1NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs)deletionPathogenicrs63751301GRCh37Chr 3, 37090064: 37090067
537MLH1NM_000249.3(MLH1): c.195delC (p.Thr66Profs)deletionPathogenicrs267607715GRCh37Chr 3, 37038188: 37038188
538MLH1NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu)single nucleotide variantPathogenicrs63750726GRCh37Chr 3, 37090072: 37090072
539MLH1NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs)deletionPathogenicrs63750115GRCh37Chr 3, 37090082: 37090082
540MLH1NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter)single nucleotide variantPathogenicrs63751310GRCh37Chr 3, 37090086: 37090086
541MLH1NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs)deletionPathogenicrs63750131GRCh37Chr 3, 37090086: 37090087
542MLH1NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
543MLH1NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu)single nucleotide variantPathogenicrs63749900GRCh37Chr 3, 37090087: 37090087
544MLH1NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs)deletionPathogenicrs63751200GRCh37Chr 3, 37090087: 37090088
545MLH1NM_000249.3(MLH1): c.1986_1989+1delinsCindelPathogenicrs267607873GRCh37Chr 3, 37090097: 37090101
546MLH1NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs)deletionPathogenicrs267607877GRCh37Chr 3, 37090099: 37090099
547MLH1NM_000249.3(MLH1): c.1989+1G> Asingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
548MLH1NM_000249.3(MLH1): c.1989+1G> Tsingle nucleotide variantPathogenicrs267607879GRCh37Chr 3, 37090101: 37090101
549MLH1NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp)single nucleotide variantPathogenicrs63751662GRCh37Chr 3, 37090100: 37090100
550MLH1NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs)duplicationPathogenicrs587778966GRCh37Chr 3, 37038191: 37038191
551MLH1NM_000249.3(MLH1): c.1990-1G> Asingle nucleotide variantPathogenicrs267607884GRCh37Chr 3, 37090394: 37090394
552MLH1NM_000249.3(MLH1): c.1990-2A> Gsingle nucleotide variantPathogenicrs267607883GRCh37Chr 3, 37090393: 37090393
553MLH1NM_000249.3(MLH1): c.1990-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37090395: 37092337
554MLH1NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs63750639GRCh37Chr 3, 37090403: 37090403
555MLH1NM_000249.3(MLH1): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
556MLH1NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs)deletionPathogenicrs267607702GRCh37Chr 3, 37035057: 37035073
557MLH1NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs)duplicationPathogenicrs63750282GRCh37Chr 3, 37090405: 37090405
558MLH1NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs)deletionPathogenicrs63750061GRCh37Chr 3, 37090411: 37090415
559MLH1NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs)deletionPathogenicrs63750740GRCh37Chr 3, 37090414: 37090414
560MLH1NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter)single nucleotide variantPathogenicrs63750663GRCh37Chr 3, 37090416: 37090416
561MLH1NM_000249.3(MLH1): c.201delG (p.Ile68Serfs)deletionPathogenicrs587778968GRCh37Chr 3, 37038194: 37038194
562MLH1NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter)single nucleotide variantPathogenicrs587778971GRCh37Chr 3, 37090440: 37090440
563MLH1NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg)single nucleotide variantLikely pathogenicrs63750809GRCh37Chr 3, 37090443: 37090443
564MLH1NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter)single nucleotide variantPathogenicrs63749867GRCh37Chr 3, 37090445: 37090445
565MLH1NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp)single nucleotide variantPathogenicrs63751275GRCh37Chr 3, 37090464: 37090464
566MLH1NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs)deletionPathogenicrs63751704GRCh37Chr 3, 37038198: 37038198
567MLH1NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs)deletionPathogenicrs63750420GRCh37Chr 3, 37090472: 37090478
568MLH1NM_000249.3(MLH1): c.207+1245_884+523dupduplicationPathogenicGRCh37Chr 3, 37039445: 37059613
569MLH1NM_000249.3(MLH1): c.207+1560_546-871deldeletionPathogenicGRCh37Chr 3, 37039760: 37052440
570MLH1NM_000249.3(MLH1): c.207+1G> Asingle nucleotide variantLikely pathogenicrs267607718GRCh37Chr 3, 37038201: 37038201
571MLH1NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs)deletionPathogenicrs63750769GRCh37Chr 3, 37090481: 37090482
572MLH1NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8)deletionPathogenic
573MLH1NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTAindelPathogenicGRCh37Chr 3, 37040732: 37043185
574MLH1NM_000249.3(MLH1): c.208-1G> Asingle nucleotide variantPathogenicrs267607717GRCh37Chr 3, 37042445: 37042445
575MLH1NM_000249.3(MLH1): c.208-1_208deldeletionPathogenicrs587778973GRCh37Chr 3, 37042445: 37042446
576MLH1NM_000249.3(MLH1): c.208-2A> Gsingle nucleotide variantPathogenicrs267607716GRCh37Chr 3, 37042444: 37042444
577MLH1NM_000249.3(MLH1): c.208-?_306+?deldeletionPathogenic
578MLH1NM_000249.3(MLH1): c.208-?_453+?deldeletionPathogenic
579MLH1NM_000249.3(MLH1): c.208-?_545+?deldeletionPathogenic
580MLH1NM_000249.3(MLH1): c.208-?_790+?deldeletionPathogenic
581MLH1NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter)single nucleotide variantPathogenicrs63749995GRCh37Chr 3, 37090489: 37090489
582MLH1NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs)deletionPathogenicrs63750859GRCh37Chr 3, 37090497: 37090498
583MLH1NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter)single nucleotide variantPathogenicrs587778975GRCh37Chr 3, 37090498: 37090498
584MLH1NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs)deletionPathogenicrs63751652GRCh37Chr 3, 37090504: 37090507
585MLH1NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter)single nucleotide variantPathogenicrs63750114GRCh37Chr 3, 37090506: 37090506
586MLH1NM_000249.3(MLH1): c.2103+1G> Asingle nucleotide variantPathogenicrs267607888GRCh37Chr 3, 37090509: 37090509
587MLH1NM_000249.3(MLH1): c.2103G> C (p.Gln701His)single nucleotide variantPathogenicrs63750603GRCh37Chr 3, 37090508: 37090508
588MLH1NM_000249.3(MLH1): c.2104-2A> Tsingle nucleotide variantPathogenicrs267607889GRCh37Chr 3, 37091975: 37091975
589MLH1NM_000249.3(MLH1): c.2104-?_*(193_?)deldeletionPathogenicGRCh37Chr 3, 37091977: 37092337
590MLH1NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs)deletionPathogenicrs63751651GRCh37Chr 3, 37091977: 37091978
591MLH1NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs)deletionPathogenicrs587778979GRCh37Chr 3, 37091978: 37091987
592MLH1NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs)deletionPathogenicrs267607723GRCh37Chr 3, 37042448: 37042451
593MLH1NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs)deletionPathogenicrs587778980GRCh37Chr 3, 37091984: 37091990
594MLH1NM_000249.3(MLH1): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs63749829GRCh37Chr 3, 37042449: 37042449
595MLH1NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750561GRCh37Chr 3, 37092008: 37092008
596MLH1NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter)single nucleotide variantPathogenicrs63750499GRCh37Chr 3, 37092009: 37092009
597MLH1NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del)deletionPathogenicrs63751642GRCh37Chr 3, 37042451: 37042453
598MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
599MLH1NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs)deletionPathogenicrs587778981GRCh37Chr 3, 37092020: 37092021
600MLH1NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs)duplicationPathogenicrs587778982GRCh37Chr 3, 37092022: 37092068
601MLH1NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs)deletionPathogenicrs63750971GRCh37Chr 3, 37092027: 37092028
602MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
603MLH1NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs)duplicationPathogenicrs587778984GRCh37Chr 3, 37092030: 37092030
604MLH1NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter)single nucleotide variantPathogenicrs63750484GRCh37Chr 3, 37092036: 37092036
605MLH1NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs)deletionPathogenicrs267607898GRCh37Chr 3, 37092052: 37092055
606MLH1NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs)deletionPathogenicrs587778987GRCh37Chr 3, 37092054: 37092055
607MLH1NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter)single nucleotide variantPathogenicrs267607906GRCh37Chr 3, 37092067: 37092067
608MLH1NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs)duplicationPathogenicrs267607903GRCh37Chr 3, 37092068: 37092071
609MLH1NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs)duplicationPathogenicrs587778989GRCh37Chr 3, 37092091: 37092091
610MLH1NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?)indelPathogenicrs587778990GRCh37Chr 3, 37092094: 37092097
611MLH1NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs)deletionPathogenicrs267607897GRCh37Chr 3, 37092096: 37092106
612MLH1NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs587778992GRCh37Chr 3, 37092097: 37092097
613MLH1NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs)deletionPathogenicrs267607896GRCh37Chr 3, 37092097: 37092097
614MLH1NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro)single nucleotide variantPathogenicrs267607894GRCh37Chr 3, 37092119: 37092119
615MLH1NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092139: 37092142
616MLH1NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs)duplicationPathogenicrs267607892GRCh37Chr 3, 37092142: 37092142
617MLH1NM_000249.3(MLH1): c.229T> C (p.Cys77Arg)single nucleotide variantPathogenicrs63749859GRCh37Chr 3, 37042467: 37042467
618MLH1NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs)duplicationPathogenicrs587778996GRCh37Chr 3, 37035060: 37035060
619MLH1NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs63750437GRCh37Chr 3, 37042468: 37042468
620MLH1NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs)deletionPathogenicrs63750052GRCh37Chr 3, 37042469: 37042470
621MLH1NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs)deletionPathogenicrs587778997GRCh37Chr 3, 37042470: 37042470
622MLH1NM_000249.3(MLH1): c.238T> G (p.Phe80Val)single nucleotide variantPathogenicrs63749990GRCh37Chr 3, 37042476: 37042476
623MLH1NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs)duplicationPathogenicrs267607729GRCh37Chr 3, 37042482: 37042482
624MLH1NM_000249.3(MLH1): c.245C> T (p.Thr82Ile)single nucleotide variantPathogenicrs63750005GRCh37Chr 3, 37042483: 37042483
625MLH1NM_000249.3(MLH1): c.256C> T (p.Gln86Ter)single nucleotide variantPathogenicrs63751421GRCh37Chr 3, 37042494: 37042494
626MLH1NM_000249.3(MLH1): c.261delC (p.Phe88Leufs)deletionPathogenicrs267607728GRCh37Chr 3, 37042499: 37042499
627MLH1NM_000249.3(MLH1): c.265G> T (p.Glu89Ter)single nucleotide variantPathogenicrs11541859GRCh37Chr 3, 37042503: 37042503
628MLH1NM_000249.3(MLH1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs111052004GRCh37Chr 3, 37035040: 37035040
629MLH1NM_000249.3(MLH1): c.306+1G> Asingle nucleotide variantPathogenicrs267607734GRCh37Chr 3, 37042545: 37042545
630MLH1NM_000249.3(MLH1): c.306+2dupTduplicationPathogenicrs267607738GRCh37Chr 3, 37042546: 37042546
631MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
632MLH1NM_000249.3(MLH1): c.306G> C (p.Glu102Asp)single nucleotide variantPathogenicrs63751665GRCh37Chr 3, 37042544: 37042544
633MLH1NM_000249.3(MLH1): c.307-1420_380+624deldeletionPathogenicGRCh37Chr 3, 37044472: 37046589
634MLH1NM_000249.3(MLH1): c.307-245_454-365deldeletionPathogenicGRCh37Chr 3, 37045647: 37049940
635MLH1NM_000249.3(MLH1): c.307-797_677+1061deldeletionPathogenicGRCh37Chr 3, 37045095: 37054651
636MLH1NM_000249.3(MLH1): c.307-820_380+896deldeletionPathogenicGRCh37Chr 3, 37045072: 37046861
637MLH1NM_000249.3(MLH1): c.307-?_(*193_?)deldeletionPathogenicGRCh38Chr 3, 37004401: 37050846
638MLH1NM_000249.3(MLH1): c.307-?_545+?deldeletionPathogenic
639MLH1NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs)deletionPathogenicrs63749816GRCh37Chr 3, 37035069: 37035069
640MLH1NM_000249.3(MLH1): c.320T> G (p.Ile107Arg)single nucleotide variantPathogenicrs63750507GRCh37Chr 3, 37045905: 37045905
641MLH1NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs)deletionPathogenicrs63750645GRCh37Chr 3, 37045926: 37045926
642MLH1NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs)deletionPathogenicrs63750906GRCh37Chr 3, 37045931: 37045931
643MLH1NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs)duplicationPathogenicrs267607739GRCh37Chr 3, 37045931: 37045931
644MLH1NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs)duplicationPathogenicrs63750658GRCh37Chr 3, 37045939: 37045940
645MLH1NM_000249.3(MLH1): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs63750542GRCh37Chr 3, 37045952: 37045952
646MLH1NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs)deletionPathogenicrs587779006GRCh37Chr 3, 37045957: 37045958
647MLH1NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter)single nucleotide variantPathogenicrs63751606GRCh37Chr 3, 37045963: 37045963
648MLH1NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs)deletionPathogenicrs63751607GRCh37Chr 3, 37045963: 37045963
649MLH1NM_000249.3(MLH1): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs587779008GRCh37Chr 3, 37035075: 37035075
650MLH1NM_000249.3(MLH1): c.37delG (p.Glu13Argfs)deletionPathogenicrs63750081GRCh37Chr 3, 37035075: 37035075
651MLH1NM_000249.3(MLH1): c.380+2T> Asingle nucleotide variantPathogenicrs267607742GRCh37Chr 3, 37045967: 37045967
652MLH1NM_000249.3(MLH1): c.381-415_453+733deldeletionPathogenicGRCh37Chr 3, 37048067: 37049287
653MLH1NM_000249.3(MLH1): c.381-?_545+?deldeletionPathogenic
654MLH1NM_000249.3(MLH1): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs63750866GRCh37Chr 3, 37048483: 37048483
655MLH1NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs)indelPathogenicrs267607746GRCh37Chr 3, 37048483: 37048503
656MLH1NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs)deletionPathogenicrs63750865GRCh37Chr 3, 37048483: 37048483
657MLH1NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs)indelPathogenicrs63751710GRCh37Chr 3, 37048486: 37048487
658MLH1NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs)deletionPathogenicrs587779009GRCh37Chr 3, 37048489: 37048489
659MLH1NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs)deletionPathogenicrs587779012GRCh37Chr 3, 37048490: 37048490
660MLH1NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs)insertionPathogenicrs63750057GRCh37Chr 3, 37035076: 37035077
661MLH1NM_000249.3(MLH1): c.392C> A (p.Ser131Ter)single nucleotide variantPathogenicrs63749818GRCh37Chr 3, 37048493: 37048493
662MLH1NM_000249.3(MLH1): c.397G> T (p.Gly133Ter)single nucleotide variantPathogenicrs63751124GRCh37Chr 3, 37048498: 37048498
663MLH1NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs)duplicationPathogenicrs587779013GRCh37Chr 3, 37035077: 37035078
664MLH1NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs)deletionPathogenicrs587779014GRCh37Chr 3, 37048505: 37048508
665MLH1NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs)deletionPathogenicrs587779015GRCh37Chr 3, 37048521: 37048521
666MLH1NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs)duplicationPathogenicrs63751045GRCh37Chr 3, 37048529: 37048529
667MLH1NM_000249.3(MLH1): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs63749820GRCh37Chr 3, 37048537: 37048537
668MLH1NM_000249.3(MLH1): c.445C> T (p.Gln149Ter)single nucleotide variantPathogenicrs63751302GRCh37Chr 3, 37048546: 37048546
669MLH1NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs)duplicationPathogenicrs63751131GRCh37Chr 3, 37035082: 37035082
670MLH1NM_000249.3(MLH1): c.453+2T> Csingle nucleotide variantPathogenicrs267607751GRCh37Chr 3, 37048556: 37048556
671MLH1NM_000249.3(MLH1): c.454-432_546-1030deldeletionPathogenicGRCh37Chr 3, 37049873: 37052281
672MLH1NM_000249.3(MLH1): c.454-466_546-1062deldeletionPathogenicGRCh37Chr 3, 37049839: 37052249
673MLH1NM_000249.3(MLH1): c.454-505_546-1102deldeletionPathogenicGRCh37Chr 3, 37049800: 37052209
674MLH1NM_000249.3(MLH1): c.454-665_545+49deldeletionPathogenicGRCh37Chr 3, 37049640: 37050445
675MLH1NM_000249.3(MLH1): c.454-?_545+?deldeletionPathogenic
676MLH1NM_000249.3(MLH1): c.464T> G (p.Leu155Arg)single nucleotide variantPathogenicrs63750891GRCh37Chr 3, 37050315: 37050315
677MLH1NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs)deletionPathogenicrs267607758GRCh37Chr 3, 37050319: 37050320
678MLH1NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs)deletionPathogenicrs267607754GRCh37Chr 3, 37050339: 37050339
679MLH1NM_000249.3(MLH1): c.497T> A (p.Leu166Ter)single nucleotide variantPathogenicrs267607755GRCh37Chr 3, 37050348: 37050348
680MLH1NM_000249.3(MLH1): c.497delT (p.Leu166Terfs)deletionPathogenicrs587779018GRCh37Chr 3, 37050348: 37050348
681MLH1NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs)deletionPathogenicrs267607756GRCh37Chr 3, 37050353: 37050354
682MLH1NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs)duplicationPathogenicrs63749959GRCh37Chr 3, 37050354: 37050354
683MLH1NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs)deletionPathogenicrs63749944GRCh37Chr 3, 37050364: 37050364
684MLH1NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs)insertionPathogenicrs587779019GRCh37Chr 3, 37050375: 37050376
685MLH1NM_000249.3(MLH1): c.52delC (p.Arg18Alafs)deletionPathogenicrs63749804GRCh37Chr 3, 37035090: 37035090
686MLH1NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
687MLH1NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)indelPathogenicrs63750903GRCh37Chr 3, 37050382: 37050383
688MLH1NM_000249.3(MLH1): c.544A> G (p.Arg182Gly)single nucleotide variantPathogenicrs63750211GRCh37Chr 3, 37050395: 37050395
689MLH1NM_000249.3(MLH1): c.545+3A> Gsingle nucleotide variantPathogenicrs267607760GRCh37Chr 3, 37050399: 37050399
690MLH1NM_000249.3(MLH1): c.545G> A (p.Arg182Lys)single nucleotide variantPathogenicrs587779021GRCh37Chr 3, 37050396: 37050396
691MLH1NM_000249.3(MLH1): c.546-2A> Csingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
692MLH1NM_000249.3(MLH1): c.546-2A> Gsingle nucleotide variantPathogenicrs267607759GRCh37Chr 3, 37053309: 37053309
693MLH1NM_000249.3(MLH1): c.546-361_885-811deldeletionPathogenicGRCh37Chr 3, 37052950: 37060990
694MLH1NM_000249.3(MLH1): c.546-?_1409+?dupduplicationPathogenic
695MLH1NM_000249.3(MLH1): c.546-?_677+?deldeletionPathogenic
696MLH1NM_000249.3(MLH1): c.546-?_790+?deldeletionPathogenic
697MLH1NM_000249.3(MLH1): c.554T> G (p.Val185Gly)single nucleotide variantPathogenicrs63750515GRCh37Chr 3, 37053319: 37053319
698MLH1NM_000249.3(MLH1): c.578C> G (p.Ser193Ter)single nucleotide variantPathogenicrs63751480GRCh37Chr 3, 37053343: 37053343
699MLH1NM_000249.3(MLH1): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs63750500GRCh37Chr 3, 37053351: 37053351
700MLH1NM_000249.3(MLH1): c.588+1G> Tsingle nucleotide variantPathogenicrs267607772GRCh37Chr 3, 37053354: 37053354
701MLH1NM_000249.3(MLH1): c.588+5G> Asingle nucleotide variantPathogenicrs267607768GRCh37Chr 3, 37053358: 37053358
702MLH1NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs)deletionPathogenicrs63751653GRCh37Chr 3, 37053353: 37053353
703MLH1NM_000249.3(MLH1): c.589-2A> Gsingle nucleotide variantPathogenicrs267607767GRCh37Chr 3, 37053500: 37053500
704MLH1NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs)deletionPathogenicrs63751637GRCh37Chr 3, 37053510: 37053511
705MLH1NM_000249.3(MLH1): c.5C> A (p.Ser2Ter)single nucleotide variantPathogenicrs587779029GRCh37Chr 3, 37035043: 37035043
706MLH1NM_000249.3(MLH1): c.61delG (p.Ala21Argfs)deletionPathogenicrs63750581GRCh37Chr 3, 37035099: 37035099
707MLH1NM_000249.3(MLH1): c.62C> A (p.Ala21Glu)single nucleotide variantPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
708MLH1NM_000249.3(MLH1): c.62C> T (p.Ala21Val)single nucleotide variantPathogenicrs63750706GRCh37Chr 3, 37035100: 37035100
709MLH1NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs)insertionPathogenicrs63750908GRCh37Chr 3, 37053545: 37053546
710MLH1NM_000249.3(MLH1): c.649delC (p.Arg217Alafs)deletionPathogenicrs63750380GRCh37Chr 3, 37053562: 37053562
711MLH1NM_000249.3(MLH1): c.665delA (p.Asn222Metfs)deletionPathogenicrs63751286GRCh37Chr 3, 37053578: 37053578
712MLH1NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs)duplicationPathogenicrs63750385GRCh37Chr 3, 37053578: 37053578
713MLH1NM_000249.3(MLH1): c.672delT (p.Ser225Valfs)deletionPathogenicrs587779031GRCh37Chr 3, 37053585: 37053585
714MLH1NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs)deletionPathogenicrs267607774GRCh37Chr 3, 37053586: 37053589
715MLH1NM_000249.3(MLH1): c.677+1G> Tsingle nucleotide variantPathogenicrs267607778GRCh37Chr 3, 37053591: 37053591
716MLH1NM_000249.3(MLH1): c.677+1delGdeletionPathogenicrs267607779GRCh37Chr 3, 37053591: 37053591
717MLH1NM_000249.3(MLH1): c.677+3A> Gsingle nucleotide variantPathogenicrs267607780GRCh37Chr 3, 37053593: 37053593
718MLH1NM_000249.3(MLH1): c.677G> A (p.Arg226Gln)single nucleotide variantPathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
719MLH1NM_000249.3(MLH1): c.677G> T (p.Arg226Leu)single nucleotide variantLikely pathogenicrs63751711GRCh37Chr 3, 37053590: 37053590
720MLH1NM_000249.3(MLH1): c.677_677+1delinsATindelPathogenicrs587779032GRCh37Chr 3, 37053590: 37053591
721MLH1NM_000249.3(MLH1): c.678-1G> Csingle nucleotide variantPathogenicrs267607784GRCh37Chr 3, 37055922: 37055922
722MLH1NM_000249.3(MLH1): c.678-3_678-2deldeletionPathogenicrs267607783GRCh37Chr 3, 37055920: 37055921
723MLH1NM_000249.3(MLH1): c.678-9_693deldeletionPathogenicrs587779036GRCh37Chr 3, 37055914: 37055938
724MLH1NM_000249.3(MLH1): c.678-?_1558+?deldeletionPathogenic
725MLH1NM_000249.3(MLH1): c.678-?_884+?deldeletionPathogenic
726MLH1NM_000249.3(MLH1): c.67G> T (p.Glu23Ter)single nucleotide variantPathogenicrs63750823GRCh37Chr 3, 37035105: 37035105
727MLH1NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs)deletionPathogenicrs63750822GRCh37Chr 3, 37035105: 37035105
728MLH1NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs)duplicationPathogenicrs63751659GRCh37Chr 3, 37055928: 37055928
729MLH1NM_000249.3(MLH1): c.693delT (p.Ile231Metfs)deletionPathogenicrs63750764GRCh37Chr 3, 37055938: 37055938
730MLH1NM_000249.3(MLH1): c.70delG (p.Val24Leufs)deletionPathogenicrs63751396GRCh37Chr 3, 37035108: 37035108
731MLH1NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs)deletionPathogenicrs267607787GRCh37Chr 3, 37055972: 37055975
732MLH1NM_000249.3(MLH1): c.731G> A (p.Gly244Asp)single nucleotide variantPathogenicrs63750303GRCh37Chr 3, 37055976: 37055976
733MLH1NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs)deletionPathogenicrs587779037GRCh37Chr 3, 37055976: 37055979
734MLH1NM_000249.3(MLH1): c.739T> C (p.Ser247Pro)single nucleotide variantPathogenicrs63750948GRCh37Chr 3, 37055984: 37055984
735MLH1NM_000249.3(MLH1): c.73delA (p.Ile25Serfs)deletionPathogenicrs63749839GRCh37Chr 3, 37035111: 37035111
736MLH1NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs)duplicationPathogenicrs63750819GRCh37Chr 3, 37055990: 37055990
737MLH1NM_000249.3(MLH1): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs63749827GRCh37Chr 3, 37035114: 37035114
738MLH1NM_000249.3(MLH1): c.76delC (p.Gln26Serfs)deletionPathogenicrs63749828GRCh37Chr 3, 37035114: 37035114
739MLH1NM_000249.3(MLH1): c.779T> G (p.Leu260Arg)single nucleotide variantPathogenicrs63751283GRCh37Chr 3, 37056024: 37056024
740MLH1NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs)deletionPathogenicrs587779040GRCh37Chr 3, 37035116: 37035116
741MLH1NM_000249.3(MLH1): c.790+1G> Asingle nucleotide variantPathogenicrs267607789GRCh37Chr 3, 37056036: 37056036
742MLH1NM_000249.3(MLH1): c.790+1delGdeletionPathogenicrs267607798GRCh37Chr 3, 37056036: 37056036
743MLH1NM_000249.3(MLH1): c.790+2T> Csingle nucleotide variantPathogenicrs267607790GRCh37Chr 3, 37056037: 37056037
744MLH1NM_000249.3(MLH1): c.790+2dupTduplicationPathogenicrs267607791GRCh37Chr 3, 37056037: 37056037
745MLH1NM_000249.3(MLH1): c.791-1G> Csingle nucleotide variantPathogenicrs267607795GRCh37Chr 3, 37058996: 37058996
746MLH1NM_000249.3(MLH1): c.791-2A> Gsingle nucleotide variantLikely pathogenicrs267607794GRCh37Chr 3, 37058995: 37058995
747MLH1NM_000249.3(MLH1): c.791-4_795deldeletionPathogenicrs587779041GRCh37Chr 3, 37058993: 37059001
748MLH1NM_000249.3(MLH1): c.791-5T> Gsingle nucleotide variantPathogenicrs267607788GRCh37Chr 3, 37058992: 37058992
749MLH1NM_000249.3(MLH1): c.791-?_1558+?deldeletionPathogenic
750MLH1NM_000249.3(MLH1): c.791-?_884+?deldeletionPathogenic
751MLH1NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs)deletionPathogenicrs267607799GRCh37Chr 3, 37058997: 37059000
752MLH1NM_000249.3(MLH1): c.793C> A (p.Arg265Ser)single nucleotide variantLikely pathogenicrs63751194GRCh37Chr 3, 37058999: 37058999
753MLH1NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs)deletionPathogenicrs267607801GRCh37Chr 3, 37059014: 37059017
754MLH1NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs)deletionPathogenicrs587779043GRCh37Chr 3, 37059017: 37059021
755MLH1NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs)duplicationPathogenicrs63751439GRCh37Chr 3, 37059027: 37059030
756MLH1NM_000249.3(MLH1): c.83C> T (p.Pro28Leu)single nucleotide variantPathogenicrs63750792GRCh37Chr 3, 37035121: 37035121
757MLH1NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter)single nucleotide variantPathogenicrs63750938GRCh37Chr 3, 37059046: 37059046
758MLH1NM_000249.3(MLH1): c.842C> T (p.Ala281Val)single nucleotide variantPathogenicrs63749950GRCh37Chr 3, 37059048: 37059048
759MLH1NM_000249.3(MLH1): c.84delA (p.Ala29Leufs)deletionPathogenicrs587779045GRCh37Chr 3, 37035122: 37035122
760MLH1NM_000249.3(MLH1): c.851T> A (p.Leu284Ter)single nucleotide variantPathogenicrs63750889GRCh37Chr 3, 37059057: 37059057
761MLH1NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs)insertionPathogenicrs63750212GRCh37Chr 3, 37059062: 37059063
762MLH1NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs)deletionPathogenicrs63750034GRCh37Chr 3, 37059065: 37059066
763MLH1NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs)deletionPathogenicrs587779046GRCh37Chr 3, 37059066: 37059066
764MLH1NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs63750814GRCh37Chr 3, 37059066: 37059066
765MLH1NM_000249.3(MLH1): c.866_867delAC (p.His289Profs)deletionPathogenicrs587779047GRCh37Chr 3, 37059072: 37059073
766MLH1NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs)duplicationPathogenicrs587779048GRCh37Chr 3, 37059072: 37059073
767MLH1NM_000249.3(MLH1): c.86C> G (p.Ala29Gly)single nucleotide variantPathogenicrs63750216GRCh37Chr 3, 37035124: 37035124
768MLH1NM_000249.3(MLH1): c.882C> T (p.Leu294=)single nucleotide variantPathogenicrs63751707GRCh37Chr 3, 37059088: 37059088
769MLH1NM_000249.3(MLH1): c.883A> C (p.Ser295Arg)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
770MLH1NM_000249.3(MLH1): c.883A> G (p.Ser295Gly)single nucleotide variantPathogenicrs63751598GRCh37Chr 3, 37059089: 37059089
771MLH1NM_000249.3(MLH1): c.884+4A> Gsingle nucleotide variantPathogenicrs267607777GRCh37Chr 3, 37059094: 37059094
772MLH1NM_000249.3(MLH1): c.884G> A (p.Ser295Asn)single nucleotide variantPathogenicrs63750144GRCh37Chr 3, 37059090: 37059090
773MLH1NM_000249.3(MLH1): c.884_884+3deldeletionPathogenicrs587779050GRCh37Chr 3, 37059090: 37059093
774MLH1NM_000249.3(MLH1): c.885-206_997deldeletionPathogenicGRCh37Chr 3, 37061595: 37061913
775MLH1NM_000249.3(MLH1): c.885-493_1039-372deldeletionPathogenicGRCh37Chr 3, 37061308: 37066756
776MLH1NM_000249.3(MLH1): c.885-594_1038+1123deldeletionPathogenicGRCh37Chr 3, 37061207: 37063077
777MLH1NM_000249.3(MLH1): c.885-?_(*193_?)deldeletionPathogenicGRCh37Chr 3, 37061801: 37092337
778MLH1NM_000249.3(MLH1): c.885-?_1038+?deldeletionPathogenic
779MLH1NM_000249.3(MLH1): c.885-?_1731+?deldeletionPathogenic
780MLH1NM_000249.3(MLH1): c.887T> G (p.Leu296Ter)single nucleotide variantPathogenicrs63750547GRCh37Chr 3, 37061803: 37061803
781MLH1NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs)duplicationPathogenicrs63751620GRCh37Chr 3, 37061803: 37061803
782MLH1NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs)deletionPathogenicrs267607809GRCh37Chr 3, 37061804: 37061804
783MLH1NM_000249.3(MLH1): c.889G> T (p.Glu297Ter)single nucleotide variantPathogenicrs63750736GRCh37Chr 3, 37061805: 37061805
784MLH1NM_000249.3(MLH1): c.901C> T (p.Gln301Ter)single nucleotide variantPathogenicrs63750489GRCh37Chr 3, 37061817: 37061817
785MLH1NM_000249.3(MLH1): c.901delC (p.Gln301Argfs)deletionPathogenicrs587779052GRCh37Chr 3, 37061817: 37061817
786MLH1NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs)duplicationPathogenicrs63750962GRCh37Chr 3, 37061837: 37061838
787MLH1NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs)deletionPathogenicrs587779055GRCh37Chr 3, 37061844: 37061844
788MLH1NM_000249.3(MLH1): c.935dupA (p.His312Glnfs)duplicationPathogenicrs63750319GRCh37Chr 3, 37061851: 37061851
789MLH1NM_000249.3(MLH1): c.939dupA (p.Val314Serfs)duplicationPathogenicrs63751259GRCh37Chr 3, 37061855: 37061855
790MLH1NM_000249.3(MLH1): c.954delC (p.His318Glnfs)deletionPathogenicrs63749926GRCh37Chr 3, 37061870: 37061870
791MLH1NM_000249.3(MLH1): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs63750796GRCh37Chr 3, 37061871: 37061871
792MLH1NM_000249.3(MLH1): c.982C> T (p.Gln328Ter)single nucleotide variantPathogenicrs587779058GRCh37Chr 3, 37061898: 37061898
793MLH1NM_000249.3(MLH1): c.994delA (p.Ser332Alafs)deletionPathogenicrs63750533GRCh37Chr 3, 37061910: 37061910
794MLH1NM_000249.3(MLH1): c.9delC (p.Phe3Leufs)deletionPathogenicrs63750745GRCh37Chr 3, 37035047: 37035047
795MSH2NM_000251.1(MSH2): c.(?_-68)_(*272_?)deldeletionPathogenic
796MSH2NM_000251.2(MSH2): c.(?_-68)_1076+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47643568
797MSH2NM_000251.2(MSH2): c.(?_-68)_1276+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47657080
798MSH2NM_000251.2(MSH2): c.(?_-68)_1386+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47672796
799MSH2NM_000251.2(MSH2): c.(?_-68)_1661+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47693947
800MSH2NM_000251.2(MSH2): c.(?_-68)_1759+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47698201
801MSH2NM_000251.2(MSH2): c.(?_-68)_211+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47630541
802MSH2NM_000251.2(MSH2): c.(?_-68)_2634+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47708010
803MSH2NM_000251.2(MSH2): c.(?_-68)_366+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47635694
804MSH2NM_000251.2(MSH2): c.(?_-68)_645+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47637511
805MSH2NM_000251.2(MSH2): c.(?_-68)_792+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47639699
806MSH2NM_000251.2(MSH2): c.(?_-68)_942+?deldeletionPathogenicGRCh37Chr 2, 47630263: 47641557
807MSH2NM_000251.1(MSH2): c.-11844_1077-6021delins155indelPathogenic
808MSH2NM_000251.1(MSH2): c.-1753_645+922deldeletionPathogenicGRCh37Chr 2, 47628578: 47638433
809MSH2NM_000251.1(MSH2): c.-35298_1276+5697deldeletionPathogenic
810MSH2NM_000251.1(MSH2): c.-47156_1277-4980deldeletionPathogenic
811MSH2NM_000251.1(MSH2): c.-4729_367-353deldeletionPathogenicGRCh37Chr 2, 47625602: 47636880
812MSH2NM_000251.1(MSH2): c.-75398_1759+1708deldeletionPathogenic
813MSH2NM_000251.1(MSH2): c.-823_1076+5984deldeletionPathogenicGRCh37Chr 2, 47629508: 47649552
814MSH2NM_000251.1(MSH2): c.-956_1077-5607deldeletionPathogenicGRCh37Chr 2, 47629375: 47651274
815MSH2NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter)single nucleotide variantPathogenicrs587779063GRCh37Chr 2, 47643492: 47643492
816MSH2NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs)deletionPathogenicrs587779064GRCh37Chr 2, 47643499: 47643499
817MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
818MSH2NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu)single nucleotide variantPathogenicrs587779065GRCh37Chr 2, 47643505: 47643505
819MSH2NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs)deletionPathogenicrs63750703GRCh37Chr 2, 47643509: 47643510
820MSH2NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs)duplicationPathogenicrs587779066GRCh37Chr 2, 47643510: 47643510
821MSH2NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63751027GRCh37Chr 2, 47643526: 47643526
822MSH2NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter)single nucleotide variantPathogenicrs63750396GRCh37Chr 2, 47643527: 47643527
823MSH2NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs)duplicationPathogenicrs63751483GRCh37Chr 2, 47643529: 47643530
824MSH2NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs587779067GRCh37Chr 2, 47643538: 47643538
825MSH2NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs)deletionPathogenicrs587779068GRCh37Chr 2, 47643551: 47643551
826MSH2NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter)single nucleotide variantPathogenicrs587779070GRCh37Chr 2, 47643567: 47643567
827MSH2NM_000251.2(MSH2): c.1076+1G> Asingle nucleotide variantPathogenicrs267607940GRCh37Chr 2, 47643569: 47643569
828MSH2NM_000251.2(MSH2): c.1077-135_1276+119dupduplicationPathogenicGRCh37Chr 2, 47656746: 47657199
829MSH2NM_000251.2(MSH2): c.1077-220_1276+6245deldeletionPathogenicGRCh37Chr 2, 47656661: 47663325
830MSH2NM_000251.2(MSH2): c.1077-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47656881: 47710360
831MSH2NM_000251.2(MSH2): c.1077-?_1276+?deldeletionPathogenic
832MSH2NM_000251.2(MSH2): c.1077-?_1276+?dup200duplicationPathogenic
833MSH2NM_000251.2(MSH2): c.1077-?_1386+?deldeletionPathogenic
834MSH2NM_000251.2(MSH2): c.1077-?_1661+?deldeletionPathogenic
835MSH2NM_000251.2(MSH2): c.1077-?_2005+?deldeletionPathogenic
836MSH2NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser)single nucleotide variantPathogenicrs63751617GRCh37Chr 2, 47656881: 47656881
837MSH2NM_000251.2(MSH2): c.1077_1078ins173 (p.?)insertionPathogenicGRCh37Chr 2, 47656881: 47656882
838MSH2NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs)insertionPathogenicrs267607693GRCh37Chr 2, 47656901: 47656902
839MSH2NM_000251.2(MSH2): c.1099delG (p.Val367Terfs)deletionPathogenicrs587779073GRCh37Chr 2, 47656903: 47656903
840MSH2NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs)deletionPathogenicrs63749814GRCh37Chr 2, 47656912: 47656912
841MSH2NM_000251.2(MSH2): c.110delT (p.Phe37Serfs)deletionPathogenicrs63751056GRCh37Chr 2, 47630440: 47630440
842MSH2NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs)deletionPathogenicrs63750516GRCh37Chr 2, 47656923: 47656923
843MSH2NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter)single nucleotide variantPathogenicrs63750558GRCh37Chr 2, 47656924: 47656924
844MSH2NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs)duplicationPathogenicrs63751219GRCh37Chr 2, 47656931: 47656932
845MSH2NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs63750267GRCh37Chr 2, 47656933: 47656933
846MSH2NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs)deletionPathogenicrs63750039GRCh37Chr 2, 47656943: 47656943
847MSH2NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs)duplicationPathogenicrs63750496GRCh37Chr 2, 47656948: 47656948
848MSH2NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter)single nucleotide variantPathogenicrs63749849GRCh37Chr 2, 47656951: 47656951
849MSH2NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicrs587779075GRCh37Chr 2, 47656969: 47656969
850MSH2NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter)single nucleotide variantPathogenicrs63750302GRCh37Chr 2, 47656987: 47656987
851MSH2NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs63750611GRCh37Chr 2, 47656993: 47656993
852MSH2NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs)duplicationPathogenicrs63751169GRCh37Chr 2, 47656996: 47656996
853MSH2NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs)duplicationPathogenicrs63749850GRCh37Chr 2, 47657000: 47657001
854MSH2NM_000251.2(MSH2): c.119delG (p.Gly40Alafs)deletionPathogenicrs63750984GRCh37Chr 2, 47630449: 47630449
855MSH2NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs)duplicationPathogenicrs63750586GRCh37Chr 2, 47657007: 47657007
856MSH2NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter)single nucleotide variantPathogenicrs63751412GRCh37Chr 2, 47657008: 47657008
857MSH2NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs)deletionPathogenicrs63751413GRCh37Chr 2, 47657008: 47657008
858MSH2NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter)single nucleotide variantPathogenicrs63751271GRCh37Chr 2, 47657019: 47657019
859MSH2NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs)duplicationPathogenicrs63751192GRCh37Chr 2, 47657020: 47657023
860MSH2NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs)deletionPathogenicrs587779076GRCh37Chr 2, 47657025: 47657026
861MSH2NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs)duplicationPathogenicrs63751142GRCh37Chr 2, 47657026: 47657026
862MSH2NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs)deletionPathogenicrs63750086GRCh37Chr 2, 47657030: 47657031
863MSH2NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs)deletionPathogenicrs63751206GRCh37Chr 2, 47657047: 47657050
864MSH2NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs)deletionPathogenicrs587779079GRCh37Chr 2, 47657053: 47657057
865MSH2NM_000251.2(MSH2): c.1249delG (p.Val417Leufs)deletionPathogenicrs63751059GRCh37Chr 2, 47657053: 47657053
866MSH2NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter)single nucleotide variantPathogenicrs63750006GRCh37Chr 2, 47657059: 47657059
867MSH2NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter)single nucleotide variantPathogenicrs63751712GRCh37Chr 2, 47657068: 47657068
868MSH2NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs)duplicationPathogenicrs63751667GRCh37Chr 2, 47657073: 47657073
869MSH2NM_000251.2(MSH2): c.1276+1G> Asingle nucleotide variantPathogenicrs267607950GRCh37Chr 2, 47657081: 47657081
870MSH2NM_000251.1(MSH2): c.1276+232_1386+3798deldeletionPathogenicGRCh37Chr 2, 47657312: 47676594
871MSH2NM_000251.2(MSH2): c.1277-2A> Gsingle nucleotide variantPathogenicrs267607949GRCh37Chr 2, 47672685: 47672685
872MSH2NM_000251.2(MSH2): c.1277-572_1386+2326deldeletionPathogenicGRCh37Chr 2, 47672115: 47675122
873MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47672687: 47710360
874MSH2NM_000251.2(MSH2): c.1277-?_*(272_?)invinversionPathogenicGRCh37Chr 2, 47672687: 47710360
875MSH2NM_000251.2(MSH2): c.1277-?_1386+?deldeletionPathogenic
876MSH2NM_000251.2(MSH2): c.1277-?_1661+?deldeletionPathogenic
877MSH2NM_000251.2(MSH2): c.1277-?_1759+?deldeletionPathogenic
878MSH2NM_000251.2(MSH2): c.1277-?_2634+?deldeletionPathogenic
879MSH2NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter)single nucleotide variantPathogenicrs63751693GRCh37Chr 2, 47672695: 47672695
880MSH2NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs)duplicationPathogenicrs63751626GRCh37Chr 2, 47672697: 47672697
881MSH2NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter)single nucleotide variantPathogenicrs63751646GRCh37Chr 2, 47672698: 47672698
882MSH2NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter)single nucleotide variantPathogenicrs63751315GRCh37Chr 2, 47672702: 47672702
883MSH2NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter)single nucleotide variantPathogenicrs63750894GRCh37Chr 2, 47630459: 47630459
884MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47672721: 47672744
885MSH2NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs)deletionPathogenicrs587779083GRCh37Chr 2, 47672728: 47672729
886MSH2NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro)single nucleotide variantPathogenicrs587779084GRCh37Chr 2, 47672729: 47672729
887MSH2NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs63750807GRCh37Chr 2, 47672731: 47672731
888MSH2NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs)insertionPathogenicrs267607696GRCh37Chr 2, 47672750: 47672751
889MSH2NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter)single nucleotide variantPathogenicrs63749920GRCh37Chr 2, 47672755: 47672755
890MSH2NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs)deletionPathogenicrs267607955GRCh37Chr 2, 47672755: 47672758
891MSH2NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs)deletionPathogenicrs63750957GRCh37Chr 2, 47672762: 47672763
892MSH2NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter)single nucleotide variantPathogenicrs267607954GRCh37Chr 2, 47672764: 47672764
893MSH2NM_000251.2(MSH2): c.1358T> A (p.Met453Lys)single nucleotide variantPathogenicrs63750697GRCh37Chr 2, 47672768: 47672768
894MSH2NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs)deletionPathogenicrs63751482GRCh37Chr 2, 47630466: 47630494
895MSH2NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter)single nucleotide variantPathogenicrs63750521GRCh37Chr 2, 47672783: 47672783
896MSH2NM_000251.2(MSH2): c.1386+1G> Asingle nucleotide variantLikely pathogenicrs267607957GRCh37Chr 2, 47672797: 47672797
897MSH2NM_000251.1(MSH2): c.1387-3976_1662-364deldeletionPathogenicGRCh37Chr 2, 47686194: 47697740
898MSH2NM_000251.2(MSH2): c.1387-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47690170: 47710360
899MSH2NM_000251.2(MSH2): c.1387-?_1510+?deldeletionPathogenic
900MSH2NM_000251.2(MSH2): c.1387-?_1661+?deldeletionPathogenic
901MSH2NM_000251.2(MSH2): c.1387-?_1661+?dup275duplicationPathogenic
902MSH2NM_000251.2(MSH2): c.1387-?_2458+?deldeletionPathogenic
903MSH2NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs)deletionPathogenicrs587779088GRCh37Chr 2, 47690173: 47690173
904MSH2NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs587779089GRCh37Chr 2, 47690182: 47690182
905MSH2NM_000251.2(MSH2): c.1408delG (p.Val470Terfs)deletionPathogenicrs63750384GRCh37Chr 2, 47690191: 47690191
906MSH2NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter)single nucleotide variantPathogenicrs63751403GRCh37Chr 2, 47690201: 47690201
907MSH2NM_000251.2(MSH2): c.142G> T (p.Glu48Ter)single nucleotide variantPathogenicrs63750615GRCh37Chr 2, 47630472: 47630472
908MSH2NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs)duplicationPathogenicrs587779091GRCh37Chr 2, 47690216: 47690217
909MSH2NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter)single nucleotide variantPathogenicrs587779092GRCh37Chr 2, 47690227: 47690227
910MSH2NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs)deletionPathogenicrs63750068GRCh37Chr 2, 47690227: 47690227
911MSH2NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs)duplicationPathogenicrs63750436GRCh37Chr 2, 47690227: 47690227
912MSH2NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs)deletionPathogenicrs267607961GRCh37Chr 2, 47690228: 47690232
913MSH2NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter)single nucleotide variantPathogenicrs63749947GRCh37Chr 2, 47690230: 47690230
914MSH2NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs)deletionPathogenicrs63750161GRCh37Chr 2, 47690230: 47690231
915MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
916MSH2NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs)deletionPathogenicrs63750986GRCh37Chr 2, 47690240: 47690240
917MSH2NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs)deletionPathogenicrs63750334GRCh37Chr 2, 47630475: 47630476
918MSH2NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs)deletionPathogenicrs63750644GRCh37Chr 2, 47630475: 47630475
919MSH2NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)indelPathogenicrs63750583GRCh37Chr 2, 47690259: 47690260
920MSH2NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs63750936GRCh37Chr 2, 47690260: 47690260
921MSH2NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter)single nucleotide variantPathogenicrs587779093GRCh37Chr 2, 47690270: 47690270
922MSH2NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs)duplicationPathogenicrs63750362GRCh37Chr 2, 47690277: 47690277
923MSH2NM_000251.2(MSH2): c.1497delA (p.Ala500Profs)deletionPathogenicrs63749963GRCh37Chr 2, 47690280: 47690280
924MSH2NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs)duplicationPathogenicrs587779094GRCh37Chr 2, 47690283: 47690283
925MSH2NM_000251.2(MSH2): c.1511-2A> Gsingle nucleotide variantPathogenicrs267607962GRCh37Chr 2, 47693795: 47693795
926MSH2NM_000251.2(MSH2): c.1511-?_2005+?deldeletionPathogenic
927MSH2NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter)single nucleotide variantPathogenicrs587779097GRCh37Chr 2, 47693814: 47693814
928MSH2NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs)insertionPathogenicrs63750352GRCh37Chr 2, 47630484: 47630485
929MSH2NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter)single nucleotide variantPathogenicrs63750780GRCh37Chr 2, 47693838: 47693838
930MSH2NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs)deletionPathogenicrs63749930GRCh37Chr 2, 47693838: 47693839
931MSH2NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter)single nucleotide variantPathogenicrs63750224GRCh37Chr 2, 47693852: 47693852
932MSH2NM_000251.2(MSH2): c.1576delA (p.Thr526Profs)deletionPathogenicrs63750094GRCh37Chr 2, 47693862: 47693862
933MSH2NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs)deletionPathogenicrs63750738GRCh37Chr 2, 47693864: 47693864
934MSH2NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs)deletionPathogenicrs63750845GRCh37Chr 2, 47693873: 47693873
935MSH2NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs)duplicationPathogenicrs63750104GRCh37Chr 2, 47693880: 47693880
936MSH2NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs)deletionPathogenicrs63750675GRCh37Chr 2, 47693913: 47693913
937MSH2NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs)duplicationPathogenicrs63750662GRCh37Chr 2, 47693924: 47693925
938MSH2NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs)deletionPathogenicrs63750337GRCh37Chr 2, 47630493: 47630493
939MSH2NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
940MSH2NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys)single nucleotide variantPathogenicrs63751656GRCh37Chr 2, 47693946: 47693946
941MSH2NM_000251.2(MSH2): c.1661+1G> Asingle nucleotide variantLikely pathogenicrs267607969GRCh37Chr 2, 47693948: 47693948
942MSH2NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr)single nucleotide variantPathogenicrs63750597GRCh37Chr 2, 47693947: 47693947
943MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
944MSH2NM_000251.1(MSH2): c.1662-374_2458+467deldeletionPathogenicGRCh37Chr 2, 47697730: 47706125
945MSH2NM_000251.2(MSH2): c.1662-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47698104: 47710360
946MSH2NM_000251.2(MSH2): c.1662-?_1759+?deldeletionPathogenic
947MSH2NM_000251.2(MSH2): c.1662-?_2458+?deldeletionPathogenic
948MSH2NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs)deletionPathogenicrs63751120GRCh37Chr 2, 47698107: 47698107
949MSH2NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs)insertionPathogenicrs267607694GRCh37Chr 2, 47698109: 47698110
950MSH2NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs)deletionPathogenicrs587779100GRCh37Chr 2, 47698109: 47698109
951MSH2NM_000251.2(MSH2): c.166G> T (p.Glu56Ter)single nucleotide variantPathogenicrs587779102GRCh37Chr 2, 47630496: 47630496
952MSH2NM_000251.2(MSH2): c.166delG (p.Glu56Argfs)deletionPathogenicrs63750087GRCh37Chr 2, 47630496: 47630496
953MSH2NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs)deletionPathogenicrs63750633GRCh37Chr 2, 47698118: 47698118
954MSH2NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs)deletionPathogenicrs63750406GRCh37Chr 2, 47698125: 47698125
955MSH2NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs)duplicationPathogenicrs587779103GRCh37Chr 2, 47698129: 47698129
956MSH2NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs587779104GRCh37Chr 2, 47698135: 47698135
957MSH2NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs)deletionPathogenicrs63750737GRCh37Chr 2, 47698138: 47698139
958MSH2NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter)single nucleotide variantPathogenicrs63751149GRCh37Chr 2, 47698141: 47698141
959MSH2NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs)deletionPathogenicrs63750474GRCh37Chr 2, 47698142: 47698146
960MSH2NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs)duplicationPathogenicrs587779105GRCh37Chr 2, 47698144: 47698144
961MSH2NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs)duplicationPathogenicrs281864941GRCh37Chr 2, 47698147: 47698148
962MSH2NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs)insertionPathogenicrs587779106GRCh37Chr 2, 47698147: 47698148
963MSH2NM_000251.2(MSH2): c.1717delG (p.Ala573Profs)deletionPathogenicrs267607974GRCh37Chr 2, 47698159: 47698159
964MSH2NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter)single nucleotide variantPathogenicrs63751298GRCh37Chr 2, 47698162: 47698162
965MSH2NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs)deletionPathogenicrs63751299GRCh37Chr 2, 47698162: 47698162
966MSH2NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicrs63751411GRCh37Chr 2, 47698180: 47698180
967MSH2NM_000251.2(MSH2): c.1759+2T> Asingle nucleotide variantPathogenicrs267607976GRCh37Chr 2, 47698203: 47698203
968MSH2NM_000251.1(MSH2): c.1759+305_2006-34deldeletionPathogenicGRCh37Chr 2, 47698506: 47703472
969MSH2NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg)single nucleotide variantPathogenicrs63751140GRCh37Chr 2, 47698201: 47698201
970MSH2NM_000251.1(MSH2): c.1760-361_2634+838deldeletionPathogenicGRCh37Chr 2, 47701803: 47708848
971MSH2NM_000251.2(MSH2): c.1760-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47702164: 47710360
972MSH2NM_000251.2(MSH2): c.1760-?_2005+?deldeletionPathogenic
973MSH2NM_000251.2(MSH2): c.1760-?_2210+?deldeletionPathogenic
974MSH2NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs)deletionPathogenicrs63750103GRCh37Chr 2, 47702164: 47702164
975MSH2NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter)single nucleotide variantPathogenicrs63750844GRCh37Chr 2, 47702168: 47702168
976MSH2NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs)insertionPathogenicrs267607977GRCh37Chr 2, 47702175: 47702176
977MSH2NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter)single nucleotide variantPathogenicrs63750200GRCh37Chr 2, 47702181: 47702181
978MSH2NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs)deletionPathogenicrs63750113GRCh37Chr 2, 47702183: 47702186
979MSH2NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs)insertionPathogenicrs267607691GRCh37Chr 2, 47702185: 47702186
980MSH2NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs)duplicationPathogenicrs587779111GRCh37Chr 2, 47702191: 47702191
981MSH2NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs)deletionPathogenicrs63750495GRCh37Chr 2, 47702192: 47702193
982MSH2NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs)deletionPathogenicrs63751129GRCh37Chr 2, 47702213: 47702213
983MSH2NM_000251.2(MSH2): c.181C> T (p.Gln61Ter)single nucleotide variantPathogenicrs63750951GRCh37Chr 2, 47630511: 47630511
984MSH2NM_000251.2(MSH2): c.1827delT (p.His610Thrfs)deletionPathogenicrs587779112GRCh37Chr 2, 47702231: 47702231
985MSH2NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter)single nucleotide variantPathogenicrs63750493GRCh37Chr 2, 47702239: 47702239
986MSH2NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs)deletionPathogenicrs267607984GRCh37Chr 2, 47702257: 47702257
987MSH2NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter)single nucleotide variantPathogenicrs63750312GRCh37Chr 2, 47702261: 47702261
988MSH2NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs)duplicationPathogenicrs63750806GRCh37Chr 2, 47702262: 47702263
989MSH2NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs63750508GRCh37Chr 2, 47702265: 47702265
990MSH2NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630516: 47630517
991MSH2NM_000251.2(MSH2): c.187delG (p.Val63Terfs)deletionPathogenicrs63750160GRCh37Chr 2, 47630517: 47630517
992MSH2NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs)duplicationPathogenicrs281864942GRCh37Chr 2, 47630517: 47630517
993MSH2NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter)single nucleotide variantPathogenicrs63750203GRCh37Chr 2, 47702289: 47702289
994MSH2NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs)deletionPathogenicrs63750960GRCh37Chr 2, 47702293: 47702296
995MSH2NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs)duplicationPathogenicrs587779114GRCh37Chr 2, 47702301: 47702301
996MSH2NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs)deletionPathogenicrs63750893GRCh37Chr 2, 47702315: 47702315
997MSH2NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs)deletionPathogenicrs587779117GRCh37Chr 2, 47702328: 47702329
998MSH2NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs)duplicationPathogenicrs587779118GRCh37Chr 2, 47702371: 47702374
999MSH2NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter)single nucleotide variantPathogenicrs63751317GRCh37Chr 2, 47702372: 47702372
1000MSH2NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs)deletionPathogenicrs587779119GRCh37Chr 2, 47702384: 47702385
1001MSH2NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs)deletionPathogenicrs587779120GRCh37Chr 2, 47702386: 47702389
1002MSH2NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs)deletionPathogenicrs587779121GRCh37Chr 2, 47702388: 47702389
1003MSH2NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs)deletionPathogenicrs587779122GRCh37Chr 2, 47702390: 47702391
1004MSH2NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs)deletionPathogenicrs63749929GRCh37Chr 2, 47702390: 47702390
1005MSH2NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs)deletionPathogenicrs63751700GRCh37Chr 2, 47702400: 47702401
1006MSH2NM_000251.2(MSH2): c.2005+1G> Asingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1007MSH2NM_000251.2(MSH2): c.2005+1G> Tsingle nucleotide variantLikely pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
1008MSH2NM_000251.2(MSH2): c.2005+2T> Csingle nucleotide variantPathogenicrs267607987GRCh37Chr 2, 47702411: 47702411
1009MSH2NM_000251.2(MSH2): c.2006-?_2210+?deldeletionPathogenic
1010MSH2NM_000251.2(MSH2): c.2006G> T (p.Gly669Val)single nucleotide variantPathogenicrs63751640GRCh37Chr 2, 47703506: 47703506
1011MSH2NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs)deletionPathogenicrs63751123GRCh37Chr 2, 47703510: 47703510
1012MSH2NM_000251.2(MSH2): c.2015delT (p.Met672Argfs)deletionPathogenicrs63751161GRCh37Chr 2, 47703515: 47703515
1013MSH2NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs)deletionPathogenicrs267608000GRCh37Chr 2, 47703521: 47703522
1014MSH2NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs)deletionPathogenicrs587779129GRCh37Chr 2, 47703535: 47703536
1015MSH2NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs)deletionPathogenicrs587779131GRCh37Chr 2, 47703546: 47703547
1016MSH2NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg)single nucleotide variantPathogenicrs267607995GRCh37Chr 2, 47703547: 47703547
1017MSH2NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs)duplicationPathogenicGRCh37Chr 2, 47703548: 47703611
1018MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
1019MSH2NM_000251.2(MSH2): c.2063T> G (p.Met688Arg)single nucleotide variantPathogenicrs63749993GRCh37Chr 2, 47703563: 47703563
1020MSH2NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs)duplicationPathogenicrs63749878GRCh37Chr 2, 47703571: 47703571
1021MSH2NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs)deletionPathogenicrs587779135GRCh37Chr 2, 47703574: 47703581
1022MSH2NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu)single nucleotide variantPathogenicrs267607994GRCh37Chr 2, 47703587: 47703587
1023MSH2NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg)single nucleotide variantPathogenicrs63750961GRCh37Chr 2, 47703589: 47703589
1024MSH2NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe)single nucleotide variantPathogenicrs63750398GRCh37Chr 2, 47703590: 47703590
1025MSH2NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter)single nucleotide variantPathogenicrs63750872GRCh37Chr 2, 47703591: 47703591
1026MSH2NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter)single nucleotide variantPathogenicrs587779136GRCh37Chr 2, 47703596: 47703596
1027MSH2NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs)deletionPathogenicrs267607915GRCh37Chr 2, 47630350: 47630350
1028MSH2NM_000251.1(MSH2): c.211+1566_1277-3954deldeletionPathogenicGRCh37Chr 2, 47632107: 47668733
1029MSH2NM_000251.2(MSH2): c.212-1G> Asingle nucleotide variantPathogenicrs267607914GRCh37Chr 2, 47635539: 47635539
1030MSH2NM_000251.2(MSH2): c.212-478T> Gsingle nucleotide variantPathogenicrs587779138GRCh37Chr 2, 47635062: 47635062
1031MSH2NM_000251.2(MSH2): c.212-?_1076+?deldeletionPathogenic
1032MSH2NM_000251.2(MSH2): c.212-?_1276+?deldeletionPathogenic
1033MSH2NM_000251.2(MSH2): c.212-?_1386+?deldeletionPathogenic
1034MSH2NM_000251.2(MSH2): c.212-?_1510+?deldeletionPathogenic
1035MSH2NM_000251.2(MSH2): c.212-?_2458+?deldeletionPathogenic
1036MSH2NM_000251.2(MSH2): c.212-?_366+?deldeletionPathogenic
1037MSH2NM_000251.2(MSH2): c.212-?_645+?deldeletionPathogenic
1038MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
1039MSH2NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs)duplicationPathogenicrs63751453GRCh37Chr 2, 47703635: 47703635
1040MSH2NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs)duplicationPathogenicrs63750545GRCh37Chr 2, 47703641: 47703641
1041MSH2NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter)single nucleotide variantPathogenicrs587779139GRCh37Chr 2, 47703652: 47703652
1042MSH2NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs)deletionPathogenicrs63750722GRCh37Chr 2, 47703660: 47703663
1043MSH2NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs)duplicationPathogenicrs587779140GRCh37Chr 2, 47703667: 47703667
1044MSH2NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter)single nucleotide variantPathogenicrs63749802GRCh37Chr 2, 47703691: 47703691
1045MSH2NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs)duplicationPathogenicrs281864943GRCh37Chr 2, 47630351: 47630351
1046MSH2NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs)deletionPathogenicrs63750572GRCh37Chr 2, 47703704: 47703704
1047MSH2NM_000251.1(MSH2): c.2210+116_2562deldeletionPathogenicGRCh37Chr 2, 47703826: 47707938
1048MSH2NM_000251.2(MSH2): c.2211-?_2458+?deldeletionPathogenic
1049MSH2NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1050MSH2NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter)single nucleotide variantPathogenicrs63751155GRCh37Chr 2, 47705428: 47705428
1051MSH2NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs)deletionPathogenicrs63751156GRCh37Chr 2, 47705428: 47705431
1052MSH2NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter)single nucleotide variantPathogenicrs63750403GRCh37Chr 2, 47705431: 47705431
1053MSH2NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs)insertionPathogenicrs267607690GRCh37Chr 2, 47705437: 47705438
1054MSH2NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs)deletionPathogenicrs63750712GRCh37Chr 2, 47635551: 47635552
1055MSH2NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs)deletionPathogenicrs63751036GRCh37Chr 2, 47705440: 47705441
1056MSH2NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg)single nucleotide variantPathogenicrs63751119GRCh37Chr 2, 47705451: 47705451
1057MSH2NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs)deletionPathogenicrs267608009GRCh37Chr 2, 47705461: 47705461
1058MSH2NM_000251.2(MSH2): c.226C> T (p.Gln76Ter)single nucleotide variantPathogenicrs63750042GRCh37Chr 2, 47635554: 47635554
1059MSH2NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter)single nucleotide variantPathogenicrs63749854GRCh37Chr 2, 47705475: 47705475
1060MSH2NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs)deletionPathogenicrs63749913GRCh37Chr 2, 47705490: 47705490
1061MSH2NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter)single nucleotide variantPathogenicrs587779143GRCh37Chr 2, 47705491: 47705491
1062MSH2NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter)single nucleotide variantPathogenicrs63751105GRCh37Chr 2, 47705492: 47705492
1063MSH2NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs)deletionPathogenicrs63750346GRCh37Chr 2, 47705494: 47705494
1064MSH2NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs)deletionPathogenicrs63751143GRCh37Chr 2, 47705495: 47705495
1065MSH2NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs)deletionPathogenicrs63749848GRCh37Chr 2, 47635557: 47635558
1066MSH2NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs)deletionPathogenicrs63750896GRCh37Chr 2, 47705505: 47705505
1067MSH2NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter)single nucleotide variantPathogenicrs63750618GRCh37Chr 2, 47705534: 47705534
1068MSH2NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs)duplicationPathogenicrs63750149GRCh37Chr 2, 47705535: 47705535
1069MSH2NM_000251.2(MSH2): c.2347delC (p.His783Ilefs)deletionPathogenicrs63750233GRCh37Chr 2, 47705547: 47705547
1070MSH2NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705560: 47705561
1071MSH2NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs)duplicationPathogenicrs63750803GRCh37Chr 2, 47705561: 47705561
1072MSH2NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs)duplicationPathogenicrs63750463GRCh37Chr 2, 47705562: 47705562
1073MSH2NM_000251.2(MSH2): c.2388delT (p.Val797Leufs)deletionPathogenicrs63749983GRCh37Chr 2, 47705588: 47705588
1074MSH2NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs)deletionPathogenicrs63750060GRCh37Chr 2, 47705608: 47705609
1075MSH2NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs)duplicationPathogenicrs587779144GRCh37Chr 2, 47705618: 47705618
1076MSH2NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter)single nucleotide variantPathogenicrs34986638GRCh37Chr 2, 47705622: 47705622
1077MSH2NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs)duplicationPathogenicrs63751079GRCh37Chr 2, 47705627: 47705627
1078MSH2NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter)single nucleotide variantPathogenicrs63751018GRCh37Chr 2, 47705632: 47705632
1079MSH2NM_000251.2(MSH2)indelPathogenicGRCh37Chr 2, 47635571: 47635601
1080MSH2NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter)single nucleotide variantPathogenicrs63749917GRCh37Chr 2, 47705646: 47705646
1081MSH2NM_000251.2(MSH2): c.244A> T (p.Lys82Ter)single nucleotide variantPathogenicrs587779145GRCh37Chr 2, 47635572: 47635572
1082MSH2NM_000251.2(MSH2): c.2459-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47707835: 47710360
1083MSH2NM_000251.2(MSH2): c.2459-?_2634+?deldeletionPathogenic
1084MSH2NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs)deletionPathogenicrs63751621GRCh37Chr 2, 47707842: 47707843
1085MSH2NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs63750623GRCh37Chr 2, 47707846: 47707846
1086MSH2NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)duplicationPathogenicrs587779146GRCh37Chr 2, 47707861: 47707874
1087MSH2NM_000251.2(MSH2): c.2485delC (p.His829Metfs)deletionPathogenicrs63751117GRCh37Chr 2, 47707861: 47707861
1088MSH2NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs)deletionPathogenicrs63751447GRCh37Chr 2, 47707878: 47707884
1089MSH2NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs)deletionPathogenicrs63750008GRCh37Chr 2, 47707883: 47707883
1090MSH2NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs)deletionPathogenicrs587779147GRCh37Chr 2, 47707897: 47707897
1091MSH2NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs)deletionPathogenicrs587779148GRCh37Chr 2, 47707901: 47707902
1092MSH2NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs)deletionPathogenicrs63749975GRCh37Chr 2, 47707905: 47707906
1093MSH2NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter)single nucleotide variantPathogenicrs63750857GRCh37Chr 2, 47707912: 47707912
1094MSH2NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs)deletionPathogenicrs587779149GRCh37Chr 2, 47707921: 47707921
1095MSH2NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs)deletionPathogenicrs267607921GRCh37Chr 2, 47635583: 47635584
1096MSH2NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs)duplicationPathogenicrs63751158GRCh37Chr 2, 47635583: 47635583
1097MSH2NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter)single nucleotide variantPathogenicrs63749830GRCh37Chr 2, 47707951: 47707951
1098MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
1099MSH2NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter)single nucleotide variantPathogenicrs63750291GRCh37Chr 2, 47707957: 47707957
1100MSH2NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs)deletionPathogenicrs587779151GRCh37Chr 2, 47707969: 47707973
1101MSH2NM_000251.2(MSH2): c.2620_2621ins115 (p.?)insertionPathogenicGRCh37Chr 2, 47707996: 47707997
1102MSH2NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter)single nucleotide variantPathogenicrs587779152GRCh37Chr 2, 47707998: 47707998
1103MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
1104MSH2NM_000251.2(MSH2): c.2634+5G> Csingle nucleotide variantPathogenicrs267608017GRCh37Chr 2, 47708015: 47708015
1105MSH2NM_000251.2(MSH2): c.2634G> A (p.Glu878=)single nucleotide variantPathogenicrs63751624GRCh37Chr 2, 47708010: 47708010
1106MSH2NM_000251.2(MSH2): c.2635-?_*(272_?)deldeletionPathogenicGRCh38Chr 2, 47482779: 47483221
1107MSH2NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs63751469GRCh37Chr 2, 47709918: 47709918
1108MSH2NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs)deletionPathogenicrs267607920GRCh37Chr 2, 47635591: 47635592
1109MSH2NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs)deletionPathogenicrs63750084GRCh37Chr 2, 47709930: 47709930
1110MSH2NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs)duplicationPathogenicrs63750145GRCh37Chr 2, 47709930: 47709930
1111MSH2NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter)single nucleotide variantPathogenicrs63750808GRCh37Chr 2, 47709936: 47709936
1112MSH2NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs)deletionPathogenicrs63751007GRCh37Chr 2, 47709945: 47709945
1113MSH2NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs267608024GRCh37Chr 2, 47710023: 47710023
1114MSH2NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter)single nucleotide variantPathogenicrs551060742GRCh37Chr 2, 47710068: 47710068
1115MSH2NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs)deletionPathogenicrs63749872GRCh37Chr 2, 47635606: 47635607
1116MSH2NM_000251.2(MSH2): c.289C> T (p.Gln97Ter)single nucleotide variantPathogenicrs63750970GRCh37Chr 2, 47635617: 47635617
1117MSH2NM_000251.2(MSH2): c.28C> T (p.Gln10Ter)single nucleotide variantPathogenicrs63751099GRCh37Chr 2, 47630358: 47630358
1118MSH2NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs)duplicationPathogenicrs63750589GRCh37Chr 2, 47630359: 47630359
1119MSH2NM_000251.2(MSH2): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs63750318GRCh37Chr 2, 47635629: 47635629
1120MSH2NM_000251.2(MSH2): c.344delA (p.Asn115Metfs)deletionPathogenicrs63751195GRCh37Chr 2, 47635672: 47635672
1121MSH2NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs)deletionPathogenicrs63750501GRCh37Chr 2, 47635675: 47635678
1122MSH2NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs)duplicationPathogenicrs63750614GRCh37Chr 2, 47630364: 47630364
1123MSH2NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs)duplicationPathogenicrs587779159GRCh37Chr 2, 47635680: 47635680
1124MSH2NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter)single nucleotide variantPathogenicrs63750458GRCh37Chr 2, 47635691: 47635691
1125MSH2NM_000251.1(MSH2): c.367-371_646-513deldeletionPathogenicGRCh37Chr 2, 47636862: 47639040
1126MSH2NM_000251.1(MSH2): c.367-452_646-722deldeletionPathogenicGRCh37Chr 2, 47636781: 47638831
1127MSH2NM_000251.2(MSH2): c.367-480_645+644deldeletionPathogenicGRCh37Chr 2, 47636753: 47638155
1128MSH2NM_000251.1(MSH2): c.367-681_646-956deldeletionPathogenicGRCh37Chr 2, 47636552: 47638597
1129MSH2NM_000251.2(MSH2): c.367-?_1076+?deldeletionPathogenic
1130MSH2NM_000251.2(MSH2): c.367-?_1276+?deldeletionPathogenic
1131MSH2NM_000251.2(MSH2): c.367-?_1386+?deldeletionPathogenic
1132MSH2NM_000251.2(MSH2): c.367-?_1759+?deldeletionPathogenic
1133MSH2NM_000251.2(MSH2): c.367-?_645+?deldeletionPathogenic
1134MSH2NM_000251.2(MSH2): c.367-?_942+?deldeletionPathogenic
1135MSH2NM_000251.2(MSH2): c.368delC (p.Ala123Valfs)deletionPathogenicrs63750210GRCh37Chr 2, 47637234: 47637234
1136MSH2NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs)deletionPathogenicrs63751227GRCh37Chr 2, 47637246: 47637247
1137MSH2NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs)deletionPathogenicrs63750924GRCh37Chr 2, 47637253: 47637254
1138MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
1139MSH2NM_000251.2(MSH2): c.399delC (p.Asp133Glufs)deletionPathogenicrs63751290GRCh37Chr 2, 47637265: 47637265
1140MSH2NM_000251.2(MSH2): c.408delT (p.Phe136Leufs)deletionPathogenicrs63750408GRCh37Chr 2, 47637274: 47637274
1141MSH2NM_000251.2(MSH2): c.416delA (p.Asn139Metfs)deletionPathogenicrs63750401GRCh37Chr 2, 47637282: 47637282
1142MSH2NM_000251.2(MSH2): c.425C> G (p.Ser142Ter)single nucleotide variantPathogenicrs63750910GRCh37Chr 2, 47637291: 47637291
1143MSH2NM_000251.2(MSH2): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs63751226GRCh37Chr 2, 47637338: 47637338
1144MSH2NM_000251.2(MSH2): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs63751426GRCh37Chr 2, 47637344: 47637344
1145MSH2NM_000251.2(MSH2): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs63750624GRCh37Chr 2, 47637350: 47637350
1146MSH2NM_000251.2(MSH2): c.488T> A (p.Val163Asp)single nucleotide variantPathogenicrs63750214GRCh37Chr 2, 47637354: 47637354
1147MSH2NM_000251.2(MSH2): c.490G> A (p.Gly164Arg)single nucleotide variantPathogenicrs63750582GRCh37Chr 2, 47637356: 47637356
1148MSH2NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs)deletionPathogenicrs63751013GRCh37Chr 2, 47637372: 47637375
1149MSH2NM_000251.2(MSH2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs63750843GRCh37Chr 2, 47637374: 47637374
1150MSH2NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs)duplicationPathogenicGRCh37Chr 2, 47637377: 47637449
1151MSH2NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs)deletionPathogenicrs63750933GRCh37Chr 2, 47637379: 47637379
1152MSH2NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs)deletionPathogenicrs63750069GRCh37Chr 2, 47637384: 47637384
1153MSH2NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs)deletionPathogenicrs587779164GRCh37Chr 2, 47637394: 47637395
1154MSH2NM_000251.2(MSH2): c.529G> T (p.Glu177Ter)single nucleotide variantPathogenicrs63750382GRCh37Chr 2, 47637395: 47637395
1155MSH2NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs)deletionPathogenicrs63750551GRCh37Chr 2, 47637396: 47637397
1156MSH2NM_000251.2(MSH2): c.547C> T (p.Gln183Ter)single nucleotide variantPathogenicrs63750037GRCh37Chr 2, 47637413: 47637413
1157MSH2NM_000251.2(MSH2): c.551delT (p.Phe184Serfs)deletionPathogenicrs267607928GRCh37Chr 2, 47637417: 47637417
1158MSH2NM_000251.2(MSH2): c.560T> C (p.Leu187Pro)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1159MSH2NM_000251.2(MSH2): c.560T> G (p.Leu187Arg)single nucleotide variantPathogenicrs63751444GRCh37Chr 2, 47637426: 47637426
1160MSH2NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del)deletionPathogenicrs587779165GRCh37Chr 2, 47637437: 47637439
1161MSH2NM_000251.2(MSH2): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs63751326GRCh37Chr 2, 47637443: 47637443
1162MSH2NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs)deletionPathogenicrs63750682GRCh37Chr 2, 47637453: 47637453
1163MSH2NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs)duplicationPathogenicrs63750786GRCh37Chr 2, 47637458: 47637458
1164MSH2NM_000251.2(MSH2): c.595T> C (p.Cys199Arg)single nucleotide variantPathogenicrs63751110GRCh37Chr 2, 47637461: 47637461
1165MSH2NM_000251.2(MSH2): c.610G> T (p.Gly204Ter)single nucleotide variantPathogenicrs63750574GRCh37Chr 2, 47637476: 47637476
1166MSH2NM_000251.2(MSH2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs63749984GRCh37Chr 2, 47637479: 47637479
1167MSH2NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs)duplicationPathogenicrs63750995GRCh37Chr 2, 47637482: 47637482
1168MSH2NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs)deletionPathogenicrs63751622GRCh37Chr 2, 47637504: 47637505
1169MSH2NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs)deletionPathogenicrs63751695GRCh37Chr 2, 47637508: 47637511
1170MSH2NM_000251.2(MSH2): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs63751274GRCh37Chr 2, 47637509: 47637509
1171MSH2NM_000251.2(MSH2): c.645+1G> Asingle nucleotide variantPathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1172MSH2NM_000251.2(MSH2): c.645+1G> Tsingle nucleotide variantLikely pathogenicrs267607689GRCh37Chr 2, 47637512: 47637512
1173MSH2NM_000251.1(MSH2): c.645+539_1077-3451deldeletionPathogenicGRCh37Chr 2, 47638050: 47653430
1174MSH2NM_000251.1(MSH2): c.645+791_1076+4894deldeletionPathogenicGRCh37Chr 2, 47638302: 47648462
1175MSH2NM_000251.1(MSH2): c.645+967_1076+5075deldeletionPathogenicGRCh37Chr 2, 47638478: 47648643
1176MSH2NM_000251.2(MSH2): c.646-3T> Gsingle nucleotide variantPathogenicrs267607930GRCh37Chr 2, 47639550: 47639550
1177MSH2NM_000251.2(MSH2): c.646-?_*(272_?)deldeletionPathogenicGRCh37Chr 2, 47639553: 47710360
1178MSH2NM_000251.2(MSH2): c.646-?_1076+?deldeletionPathogenic
1179MSH2NM_000251.2(MSH2): c.646-?_1276+?deldeletionPathogenic
1180MSH2NM_000251.2(MSH2): c.646-?_1386+?deldeletionPathogenic
1181MSH2NM_000251.2(MSH2): c.646-?_792+?deldeletionPathogenic
1182MSH2NM_000251.2(MSH2): c.646-?_942+?deldeletionPathogenic
1183MSH2NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs)deletionPathogenicrs63751602GRCh37Chr 2, 47639557: 47639561
1184MSH2NM_000251.2(MSH2): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicrs587779170GRCh37Chr 2, 47639559: 47639559
1185MSH2NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)indelPathogenicrs587779172GRCh37Chr 2, 47639582: 47639586
1186MSH2NM_000251.2(MSH2): c.685A> T (p.Lys229Ter)single nucleotide variantPathogenicrs587779173GRCh37Chr 2, 47639592: 47639592
1187MSH2NM_000251.2(MSH2): c.687delA (p.Ala230Leufs)deletionPathogenicrs63749897GRCh37Chr 2, 47639594: 47639594
1188MSH2NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs)duplicationPathogenicrs63750364GRCh37Chr 2, 47639594: 47639594
1189MSH2NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs)deletionPathogenicrs587779174GRCh37Chr 2, 47639598: 47639598
1190MSH2NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs)deletionPathogenicrs63750426GRCh37Chr 2, 47639603: 47639604
1191MSH2NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs)deletionPathogenicrs281864944GRCh37Chr 2, 47639611: 47639612
1192MSH2NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs)deletionPathogenicrs281864945GRCh37Chr 2, 47639612: 47639612
1193MSH2NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs)deletionPathogenicrs63751288GRCh37Chr 2, 47639618: 47639621
1194MSH2NM_000251.2(MSH2): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs63750488GRCh37Chr 2, 47639622: 47639622
1195MSH2NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs)indelPathogenicrs63750690GRCh37Chr 2, 47639624: 47639628
1196MSH2NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs)duplicationPathogenicrs587779175GRCh37Chr 2, 47630401: 47630401
1197MSH2NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs)duplicationPathogenicrs587779176GRCh37Chr 2, 47639632: 47639632
1198MSH2NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs)duplicationPathogenicrs63750107GRCh37Chr 2, 47639642: 47639642
1199MSH2NM_000251.2(MSH2): c.736A> T (p.Lys246Ter)single nucleotide variantPathogenicrs63750881GRCh37Chr 2, 47639643: 47639643
1200MSH2NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs)insertionPathogenicrs587779177GRCh37Chr 2, 47630403: 47630404
1201MSH2NM_000251.2(MSH2): c.746delA (p.Lys249Argfs)deletionPathogenicrs63749832GRCh37Chr 2, 47639653: 47639653
1202MSH2NM_000251.2(MSH2): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs63750347GRCh37Chr 2, 47639661: 47639661
1203MSH2NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs)deletionPathogenicrs267607931GRCh37Chr 2, 47639666: 47639669
1204MSH2NM_000251.2(MSH2): c.759delG (p.Met253Ilefs)deletionPathogenicrs63751160GRCh37Chr 2, 47639666: 47639666
1205MSH2NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs)deletionPathogenicrs587779179GRCh37Chr 2, 47639668: 47639668
1206MSH2NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs)indelPathogenicrs63750329GRCh37Chr 2, 47639670: 47639673
1207MSH2NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs)duplicationPathogenicrs587779181GRCh37Chr 2, 47639674: 47639675
1208MSH2NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs)deletionPathogenicrs63751614GRCh37Chr 2, 47639695: 47639696
1209MSH2NM_000251.2(MSH2): c.792+1G> Asingle nucleotide variantPathogenicrs267607934GRCh37Chr 2, 47639700: 47639700
1210MSH2NM_000251.1(MSH2): c.792+8_943-450deldeletionPathogenicGRCh37Chr 2, 47639707: 47642985
1211MSH2NM_000251.2(MSH2): c.793-6_942+450deldeletionPathogenicGRCh37Chr 2, 47641402: 47642007
1212MSH2NM_000251.2(MSH2): c.793-?_1076+?deldeletionPathogenic
1213MSH2NM_000251.2(MSH2): c.793-?_1276+?del484deletionPathogenic
1214MSH2NM_000251.2(MSH2): c.793-?_1386+?deldel594deletionPathogenic
1215MSH2NM_000251.2(MSH2): c.793-?_942+?deldeletionPathogenic
1216MSH2NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs)deletionPathogenicrs63749902GRCh37Chr 2, 47641410: 47641410
1217MSH2NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs)deletionPathogenicrs63751133GRCh37Chr 2, 47641425: 47641426
1218MSH2NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs)deletionPathogenicrs587779185GRCh37Chr 2, 47641426: 47641429
1219MSH2NM_000251.2(MSH2): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs63751246GRCh37Chr 2, 47630412: 47630412
1220MSH2NM_000251.2(MSH2): c.82delG (p.Glu28Argfs)deletionPathogenicrs587779188GRCh37Chr 2, 47630412: 47630412
1221MSH2NM_000251.2(MSH2): c.836delT (p.Leu279Profs)deletionPathogenicrs63751159GRCh37Chr 2, 47641451: 47641451
1222MSH2NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs)duplicationPathogenicrs63750091GRCh37Chr 2, 47641454: 47641454
1223MSH2NM_000251.2(MSH2): c.842C> A (p.Ser281Ter)single nucleotide variantPathogenicrs63749991GRCh37Chr 2, 47641457: 47641457
1224MSH2NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs)deletionPathogenicrs63750701GRCh37Chr 2, 47641469: 47641469
1225MSH2NM_000251.2(MSH2): c.859G> T (p.Gly287Ter)single nucleotide variantPathogenicrs63750276GRCh37Chr 2, 47641474: 47641474
1226MSH2NM_000251.2(MSH2): c.862C> T (p.Gln288Ter)single nucleotide variantPathogenicrs63750097GRCh37Chr 2, 47641477: 47641477
1227MSH2NM_000251.2(MSH2): c.863delA (p.Gln288Argfs)deletionPathogenicrs587779189GRCh37Chr 2, 47641478: 47641478
1228MSH2NM_000251.2(MSH2): c.868G> T (p.Glu290Ter)single nucleotide variantPathogenicrs587779190GRCh37Chr 2, 47641483: 47641483
1229MSH2NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs)deletionPathogenicrs587779191GRCh37Chr 2, 47641488: 47641491
1230MSH2NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs)deletionPathogenicrs63751115GRCh37Chr 2, 47641496: 47641497
1231MSH2NM_000251.2(MSH2): c.888delC (p.Phe296Leufs)deletionPathogenicrs587779192GRCh37Chr 2, 47641503: 47641503
1232MSH2NM_000251.2(MSH2): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs63750934GRCh37Chr 2, 47641507: 47641507
1233MSH2NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs)duplicationPathogenicrs63750885GRCh37Chr 2, 47641513: 47641514
1234MSH2NM_000251.2(MSH2): c.901A> T (p.Lys301Ter)single nucleotide variantPathogenicrs63749915GRCh37Chr 2, 47641516: 47641516
1235MSH2NM_000251.2(MSH2): c.905T> A (p.Leu302Ter)single nucleotide variantPathogenicrs63749914GRCh37Chr 2, 47641520: 47641520
1236MSH2NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs)duplicationPathogenicrs63750046GRCh37Chr 2, 47641530: 47641537
1237MSH2NM_000251.2(MSH2): c.929T> C (p.Leu310Pro)single nucleotide variantPathogenicrs63750640GRCh37Chr 2, 47641544: 47641544
1238MSH2NM_000251.2(MSH2): c.942G> A (p.Gln314=)single nucleotide variantPathogenicrs587779197GRCh37Chr 2, 47641557: 47641557
1239MSH2NM_000251.2(MSH2): c.943-1G> Csingle nucleotide variantLikely pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
1240MSH2NM_000251.1(MSH2): c.943-926_1077-1449deldeletionPathogenicGRCh37Chr 2, 47642509: 47655432
1241MSH2NM_000251.2(MSH2): c.943-?_1076+?deldeletionPathogenic
1242MSH2NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs)deletionPathogenicrs63750728GRCh37Chr 2, 47630424: 47630433
1243MSH2NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs)duplicationPathogenicrs63749852GRCh37Chr 2, 47643450: 47643450
1244MSH2NM_000251.2(MSH2): c.970C> T (p.Gln324Ter)single nucleotide variantPathogenicrs63750502GRCh37Chr 2, 47643462: 47643462
1245MSH2NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs)deletionPathogenicrs63751044GRCh38Chr 2, 47416323: 47416324
1246MSH2NM_000251.2(MSH2): c.970_971ins4insertionPathogenicrs587779199GRCh37Chr 2, 47643462: 47643463
1247MSH2NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109insertionPathogenic
1248MSH2NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs)duplicationPathogenicrs63749945GRCh37Chr 2, 47643465: 47643465
1249PMS2NM_000535.5(PMS2): c.(?_-87)_(*160_?)deldeletionPathogenic
1250PMS2NM_000535.6(PMS2): c.(?_-87)_1144+?deldeletionPathogenicGRCh38Chr 7, 5989800: 6009106
1251PMS2NM_000535.6(PMS2): c.(?_-87)_23+?deldeletionPathogenicGRCh37Chr 7, 6048628: 6048737
1252PMS2NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs)deletionPathogenicrs63750049GRCh37Chr 7, 6029554: 6029554
1253PMS2NM_000535.6(PMS2): c.1076dupT (p.Leu359Phefs)duplicationPathogenicrs267608156GRCh37Chr 7, 6029499: 6029499
1254PMS2NM_000535.6(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs)indelPathogenicrs587779326GRCh37Chr 7, 6029462: 6029463
1255PMS2NM_000535.5(PMS2): c.1145-1350_*20545deldeletionPathogenic
1256PMS2NM_000535.6(PMS2): c.1145-?_2174+?deldeletionPathogenic
1257PMS2NM_000535.6(PMS2): c.1145-?_2445+?deldeletionPathogenic
1258PMS2NM_000535.6(PMS2): c.1169_1170ins20 (p.?)insertionPathogenicrs587779327GRCh37Chr 7, 6027226: 6027227
1259PMS2NM_000535.6(PMS2): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs587778617GRCh37Chr 7, 6027135: 6027135
1260PMS2NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
1261PMS2NM_000535.5(PMS2): c.164-518_803+252delinsCGindelPathogenicGRCh38Chr 7, 5997074: 6004576
1262PMS2NM_000535.6(PMS2): c.1730dupA (p.Arg578Alafs)duplicationPathogenicrs587779330GRCh37Chr 7, 6026666: 6026666
1263PMS2NM_000535.6(PMS2): c.1738A> T (p.Lys580Ter)single nucleotide variantPathogenicrs267608169GRCh37Chr 7, 6026658: 6026658
1264PMS2NM_000535.6(PMS2): c.1768delA (p.Ile590Phefs)deletionPathogenicrs63750477GRCh37Chr 7, 6026628: 6026628
1265PMS2NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs)deletionPathogenicrs63750793GRCh37Chr 7, 6043671: 6043671
1266PMS2NM_000535.6(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
1267PMS2NM_000535.6(PMS2): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs63750490GRCh37Chr 7, 6026556: 6026556
1268PMS2NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
1269PMS2NM_000535.6(PMS2): c.1939A> T (p.Lys647Ter)single nucleotide variantPathogenicrs201451115GRCh37Chr 7, 6026457: 6026457
1270PMS2NM_000535.6(PMS2): c.2174+1G> Asingle nucleotide variantPathogenicrs267608172GRCh37Chr 7, 6022454: 6022454
1271PMS2NM_000535.6(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs)deletionPathogenicrs63750695GRCh37Chr 7, 6018306: 6018310
1272PMS2NM_000535.6(PMS2): c.219_220dupTG (p.Gly74Valfs)duplicationPathogenicrs587779336GRCh37Chr 7, 6043633: 6043634
1273PMS2NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs)deletionPathogenicrs267608173GRCh37Chr 7, 6018256: 6018259
1274PMS2NM_000535.6(PMS2): c.2276-113_2445+1596deldeletionPathogenicGRCh37Chr 7, 6015623: 6017501
1275PMS2NM_000535.6(PMS2): c.2276-91_2445+790deldeletionPathogenicGRCh37Chr 7, 6016429: 6017479
1276PMS2NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs)deletionPathogenicrs267608160GRCh37Chr 7, 6017300: 6017303
1277PMS2NM_000535.6(PMS2): c.24-12_107delinsAAATindelPathogenicGRCh37Chr 7, 6045579: 6045674
1278PMS2NM_000535.6(PMS2): c.24-?_163+?deldeletionPathogenic
1279PMS2NM_000535.6(PMS2): c.354-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 6002636
1280PMS2NM_000535.6(PMS2): c.354-?_803+?deldeletionPathogenic
1281PMS2NM_000535.6(PMS2): c.538-478_705+456deldeletionPathogenicGRCh37Chr 7, 6038283: 6039384
1282PMS2NM_000535.6(PMS2): c.543delT (p.Tyr181Terfs)deletionPathogenicrs63751029GRCh37Chr 7, 6038901: 6038901
1283PMS2NM_000535.6(PMS2): c.593dupT (p.Arg199Profs)duplicationPathogenicrs267608148GRCh37Chr 7, 6038851: 6038851
1284PMS2NM_000535.6(PMS2): c.697C> T (p.Gln233Ter)single nucleotide variantPathogenicrs587779343GRCh37Chr 7, 6038747: 6038747
1285PMS2NM_000535.6(PMS2): c.703C> T (p.Gln235Ter)single nucleotide variantPathogenicrs63750261GRCh37Chr 7, 6038741: 6038741
1286PMS2NM_000535.6(PMS2): c.706-?_803+?deldeletionPathogenic
1287PMS2NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)indelPathogenicrs267608150GRCh37Chr 7, 6037019: 6037024
1288PMS2NM_000535.6(PMS2): c.780delC (p.Asp261Metfs)deletionPathogenicrs587779344GRCh37Chr 7, 6036980: 6036980
1289PMS2NM_000535.6(PMS2): c.802dupT (p.Tyr268Leufs)duplicationPathogenicrs267608149GRCh37Chr 7, 6036958: 6036958
1290PMS2NM_000535.5(PMS2): c.804-60_804-59insJN866832.1insertionPathogenic
1291PMS2NM_000535.6(PMS2): c.804-?_2006+?deldeletionPathogenic
1292PMS2NM_000535.6(PMS2): c.804-?_903+?deldeletionPathogenic
1293PMS2NM_000535.6(PMS2): c.861_864delACAG (p.Arg287Serfs)deletionPathogenicrs267608154GRCh37Chr 7, 6035204: 6035207
1294PMS2NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs)deletionPathogenicrs63750246GRCh37Chr 7, 6035205: 6035206
1295PMS2NM_000535.6(PMS2): c.904-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5992057
1296PMS2NM_000535.6(PMS2): c.904-?_1144+?deldeletionPathogenic
1297PMS2NM_000535.6(PMS2): c.904-?_988+?deldeletionPathogenic
1298PMS2NM_000535.6(PMS2): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs200640585GRCh37Chr 7, 6031649: 6031649
1299PMS2NM_000535.6(PMS2): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs143277125GRCh37Chr 7, 6031643: 6031643
1300PMS2NM_000535.6(PMS2): c.989-296_1144+706deldeletionPathogenicGRCh37Chr 7, 6028725: 6029882
1301PMS2NM_000535.6(PMS2): c.989-2A> Gsingle nucleotide variantLikely pathogenicrs587779347GRCh37Chr 7, 6029588: 6029588
1302PMS2NM_000535.6(PMS2): c.989-?_*(160_?)deldeletionPathogenicGRCh38Chr 7, 5973239: 5989955
1303PMS2NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
1304PMS2NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
1305PMS2NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
1306PMS2NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
1307PMS2NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
1308MSH6NM_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.Q61E0

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 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4MSH2, MSH6
2
Show member pathways
9.2MLH1, MSH2
3
Show member pathways
9.2MLH1, MSH2
4
Show member pathways
9.2MLH1, MSH2
5
Show member pathways
9.1MLH1, PMS2
6
Show member pathways
8.7MLH1, MSH2, PMS2
7
Show member pathways
8.7MLH1, MSH2, PMS2
88.7MLH1, MSH2, PMS2
9
Show member pathways
8.6MLH1, MSH2, MSH6
108.6MLH1, MSH2, MSH6
118.6MLH1, MSH2, MSH6
12
Show member pathways
8.6MLH1, MSH2, MSH6
138.6MLH1, MSH2, MSH6
14
Show member pathways
8.1MLH1, MSH2, MSH6, PMS2
158.1MLH1, MSH2, MSH6, PMS2
16
Show member pathways
8.1MLH1, 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:00323019.5MSH2, MSH6
2MutLalpha complexGO:00323899.1MLH1, PMS2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:000071010.0MSH2, MSH6
2determination of adult lifespanGO:00083409.9MSH2, MSH6
3maintenance of DNA repeat elementsGO:00435709.9MSH2, MSH6
4negative regulation of DNA recombinationGO:00459109.8MSH2, MSH6
5somatic recombination of immunoglobulin genes involved in immune responseGO:00022049.8MLH1, MSH2
6positive regulation of helicase activityGO:00510969.7MSH2, MSH6
7somatic recombination of immunoglobulin gene segmentsGO:00164479.1MLH1, MSH2, MSH6
8isotype switchingGO:00451908.9MLH1, MSH2, MSH6
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.6MLH1, MSH2, MSH6
10reciprocal meiotic recombinationGO:00071318.6MLH1, MSH2, MSH6
11somatic hypermutation of immunoglobulin genesGO:00164468.6MLH1, MSH2, MSH6, PMS2
12mismatch repairGO:00062988.5MLH1, MSH2, MSH6, PMS2
13DNA repairGO:00062818.3MLH1, 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
1single thymine insertion bindingGO:003214310.1MSH2, MSH6
2single guanine insertion bindingGO:003214210.1MSH2, MSH6
3oxidized purine DNA bindingGO:003235710.1MSH2, MSH6
4mismatched DNA bindingGO:003098310.1MSH2, MSH6
5MutLalpha complex bindingGO:003240510.0MSH2, MSH6
6ADP bindingGO:00435319.9MSH2, MSH6
7damaged DNA bindingGO:00036849.9MSH2, MSH6
8four-way junction DNA bindingGO:00004009.8MSH2, MSH6
9MutSalpha complex bindingGO:00324079.8MLH1, PMS2
10double-stranded DNA bindingGO:00036909.7MSH2, MSH6
11guanine/thymine mispair bindingGO:00321379.3MLH1, MSH2, MSH6
12single-stranded DNA bindingGO:00036979.1MLH1, MSH2, PMS2
13ATP bindingGO:00055248.1MLH1, MSH2, MSH6, PMS2
14ATPase activityGO:00168877.8MLH1, MSH2, MSH6, PMS2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet