Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect : The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon : number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA) : description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change : description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein : description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele : On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method : The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification : Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19) : HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38) : HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as : listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN : description of the variant according to ISCN nomenclature
DB-ID : database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks : remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference : publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID : ID of variant in ClinVar database
dbSNP ID : the dbSNP ID
Origin : Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation : Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency : frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site : restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP : variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation : result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template : Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique : technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue : tissue type used for analysis
Remarks : remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report : ID of the individual that can be publically shared, e.g. as listed in a publication
Reference : reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks : remarks about the individual
Gender : gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity : indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country : where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population : population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death : age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP : individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av : are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment : treatment of patient
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
?/.
-
c.-198_(207+1_208-1){2}
r.?
p.?
Unknown
-
VUS
g.(?_37034841)_(37038201_37042445)dup
-
-
-
MLH1_002458
-
Sheth, unpublished
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
panel MLH1, MSH2, MSH6, PMS2, EPCAM
cancer, colon
-
Sheth, unpublished
-
M
-
India
-
-
-
-
-
1
Harsh Sheth
+/.
_1_19_
c._-198_*193{0}
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_37034841)_(37092337_?)del
g.(?_36993350)_(37050846_?)del
-
-
MLH1_001571
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
cancer, pancreatic
-
-
-
F
-
Belgium
-
-
-
-
-
1
Kathleen Claes
+/+
_1_19_
c.-73960_*46597del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.36961079_37138741del
g.36919588_37097250del
-
-
MLH1_000959
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_19_
c.-73960_*46597del
r.0?
p.0?
Unknown
-
VUS
g.36961079_37138741del
g.36919588_37097250del
Deletion of Exon 1-19
-
MLH1_000959
-
PubMed: Staaf 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_19_
c.-73960_*46597del
r.0?
p.0?
Unknown
-
pathogenic
g.36961079_37138741del
g.36919588_37097250del
-73960_*46597del
-
MLH1_000959
-
-
-
-
De novo
-
-
-
-
-
DNA
?
-
screen data 2011-01-01
cancer, skin, CRC
-
A: in Win (2011)
Rectal;Ca 48y in father; Father: Rectal;CA 48y, and pat g'father Colon(not specified);Carcinoma 23y
M
-
-
-
-
-
-
-
1
Ian Frayling
-/-
_1
c.-4864C>A
r.(=)
p.(=)
Unknown
InSiGHT
benign
g.37030175C>A
g.36988684C>A
-
-
MLH1_000938
Insight class: 1
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-4864C>A
r.(=)
p.(=)
Unknown
-
VUS
g.37030175C>A
g.36988684C>A
-
-
MLH1_000938
-
PubMed: Schafmayer 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1
c.-4864C>A
r.(=)
p.(=)
Unknown
-
VUS
g.37030175C>A
g.36988684C>A
-
-
MLH1_000938
-
-
-
rs9311149
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1
c.-593G>C
r.(=)
p.(=)
Unknown
-
VUS
g.37034446G>C
g.36992955G>C
EPM2AIP1 123C>G p.=
-
MLH1_001803
biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP
-
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
father 71 y CC, sister 45 y breast and ovarial cancer, other sister breast and brain cancer, daughter and son 2-3 benign adenomas
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-477T>C
r.(=)
p.(=)
Maternal (confirmed)
-
VUS
g.37034562T>C
g.36993071T>C
EPM2AIP1 7A>G p.Met3Val (MLH1 -477T>C not in 5`UTR)
-
MLH1_001802
EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
no cancers reported until 80y of age in parents or family
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-435_-432del
r.(=)
p.(=)
Unknown
-
VUS
g.37034604_37034607del
g.36993113_36993116del
-
-
MLH1_001801
Testing stopped when variant detected
PubMed: Ward (2013)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
screen data 2012-01-01
CRC
-
PubMed: Ward (2013)
-
F
-
United States
African American
-
-
-
-
1
Robyn Ward
?/.
_1
c.-435_-432del
r.(=)
p.(=)
Unknown
-
NA
g.37034604_37034607del
g.36993113_36993116del
-
-
MLH1_001801
105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively.
PubMed: Ward (2013)
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-413_-411del
r.(=)
p.(=)
Unknown
-
VUS
g.37034626_37034628del
g.36993135_36993137del
-
-
MLH1_001800
Testing stopped when variant detected
PubMed: Ward (2013)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
screen data 2012-01-01
CRC, cancer, endometrial
-
PubMed: Ward (2013)
-
F
-
United States
white
-
-
-
-
1
Robyn Ward
?/.
_1
c.-413_-411del
r.(=)
p.(=)
Unknown
-
NA
g.37034626_37034628del
g.36993135_36993137del
-
-
MLH1_001800
77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively.
-
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
_1_2i
c.-381_207+606del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.37034658_37038806del
g.36993167_36997315del
-
-
MLH1_000944
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_2i
c.-381_207+606del
r.0?
p.0?
Unknown
-
VUS
g.37034658_37038806del
g.36993167_36997315del
del Ex1-2, ~4.1kb
-
MLH1_000944
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: van der Klift, H.2005
-
?
-
Canada
French Canadian
-
-
-
-
1
Juul Wijnen
?/.
_1_2i
c.-381_207+606del
r.0?
p.0?
Unknown
-
VUS
g.37034658_37038806del
g.36993167_36997315del
Deletion of Exon 1-2
-
MLH1_000944
-
PubMed: van der Klift 2005 ,PubMed: Chong 2009
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1
c.-369A>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034670A>G
g.36993179A>G
EPM2AIP1 -102T>C (MLH1 -369A>G not in 5`UTR)
-
MLH1_001799
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
father 40 y CC and died
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
-?/-?
_1
c.-269C>G
r.(=)
p.(=)
Unknown
InSiGHT
likely benign
g.37034770C>G
g.36993279C>G
-
-
MLH1_000002
Insight class: 2
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs
-
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
M
-
-
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs
-
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
56 y ovarial metastasis, mother 54 y CRC, died at age 63 y
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
germline methylation on c.-269G variant allele
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
constitutional MLH1 epimutation carrier; no family history
?
-
-
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, endometrial
-
-
no family history
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
-
-
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ-NG, SEQ
-
-
CRC
-
-
-
M
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
-
-
-
-
Germline
?
-
-
-
-
DNA
MAPH, SEQ-NG
-
-
CRC
-
-
no family history
M
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
-
-
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ-NG
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
-?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
likely benign
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
MLH1 in heterozygous SNPs c.-93G>A and c.655A>G biallelic, EPM2AIP1 biallelic in c.-202G>C
-
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ
-
-
CRC
-
-
no family history
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
-
MLH1_000002
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
no tumors reported in family, healthy mother
M
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
?/.
_1
c.-269C>G
r.=
p.=
Parent #1
-
VUS
g.37034770C>G
g.36993279C>G
-269C>G
-
MLH1_000002
-
PubMed: Zavodna 2006
-
-
Germline
-
?
-
-
-
DNA
SEQ
-
-
?
-
-
healthy controls
-
-
Slovakia (Slovak Republic)
-
-
-
-
-
1
INSiGHT group
?/.
_1
c.-269C>G
r.=
p.=
Parent #1
-
VUS
g.37034770C>G
g.36993279C>G
-269C>G
-
MLH1_000002
-
PubMed: Zavodna 2006
-
-
Germline
-
?
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
Slovakia (Slovak Republic)
-
-
-
-
-
1
INSiGHT group
?/.
_1
c.-269C>G
r.=
p.=
Parent #1
-
VUS
g.37034770C>G
g.36993279C>G
-269C>G
-
MLH1_000002
-
PubMed: Zavodna 2006
-
-
Germline
-
?
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
Slovakia (Slovak Republic)
-
-
-
-
-
1
INSiGHT group
?/.
_1
c.-269C>G
r.(=)
p.(=)
Unknown
-
VUS
g.37034770C>G
g.36993279C>G
-
-
MLH1_000002
-
PubMed: Pinto 2017
-
-
Germline
-
-
-
-
-
DNA
?
-
-
CRC
-
PubMed: Pinto el al. 2017
Constitutional methylation of the MLH1 promoter; patient′s father was affected by kidney and liver cancer at the age of 60 years and the mother was affected with an endometrial cancer at the age of 65 years (Fig. 2D)
M
-
-
-
-
-
-
-
1
InSiGHT - John-Paul Plazzer
?/.
_1
c.-261G>A
r.(=)
p.(=)
Unknown
-
VUS
g.37034778G>A
g.36993287G>A
-
-
MLH1_001797
-
PubMed: Pinto 2017
-
-
Germline
-
-
-
-
-
DNA
?
-
-
-
-
PubMed: Pinto el al. 2017
-
-
-
-
-
-
-
-
-
1
InSiGHT - John-Paul Plazzer
?/.
_1
c.-230G>C
r.(=)
p.(=)
Unknown
-
VUS
g.37034809G>C
g.36993318G>C
MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1
-
MLH1_001796
-
-
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ-NG
-
-
CRC
-
-
father 71 y CC, half-brother (paternal) 40 y adenoma, paternal cousin (female) 48 y breast cancer
F
-
Germany
-
-
-
-
-
1
Elke Holinski-Feder
-?/.
-
c.-221C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.37034818C>T
g.36993327C>T
-
-
EPM2AIP1_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-213G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.37034826G>A
g.36993335G>A
-
-
EPM2AIP1_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
_1_1i
c.(?_-198)_(116+1_117-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37035155_37038109)del
-
-
-
MLH1_000941
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_1i
c.(?_-198)_(116+1_117-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37035155_37038109)del
-
Deletion of Exon 1
-
MLH1_000941
-
PubMed: Zhu 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_1i
c.(?_-198)_(116+1_117-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37035155_37038109)del
-
Deletion of Exon 1
-
MLH1_000941
-
PubMed: Barnetson 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_1i
c.(?_-198)_(116+1_117-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37035155_37038109)del
-
Deletion of Exon 1
-
MLH1_000941
-
PubMed: De Lellis 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-198)_(116+1_117-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37035155_37038109)del
-
(?_-198)_116+?del
-
MLH1_000941
WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined
InSiGHT, PubMed: Rossi 2017
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
InSiGHT, PubMed: Rossi 2017
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
-
-
Chile
-
-
-
-
-
2
Mev Dominguez Valentin
?/?
_1_1i
c.(?_-198)_(116+1_117-1)dup
r.0?
p.0?
Unknown
InSiGHT
VUS
g.(?_37034841)_(37035155_37038109)dup
-
-
-
MLH1_000942
Insight class: 3
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_1i
c.(?_-198)_(116+1_117-1)dup
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37035155_37038109)dup
-
Duplication of Exon 1
-
MLH1_000942
-
PubMed: Zhu 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
_1_2i
c.(?_-198)_(207+1_208-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37038201_37042445)del
-
-
-
MLH1_001607
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_2i
c.(?_-198)_(207+1_208-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37038201_37042445)del
-
Deletion of Exon 1-2
-
MLH1_001607
-
PubMed: Zhang 2006 ,PubMed: Gylling 2009
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_2i
c.(?_-198)_(207+1_208-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37038201_37042445)del
-
Deletion of Exon 1-2
-
MLH1_001607
-
PubMed: Baudhuin 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_2i
c.(?_-198)_(207+1_208-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37038201_37042445)del
-
(?_-198)_207+?del
-
MLH1_001607
2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos.
Elke Holinski-Feder and Monika Morak
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_2i
c.(?_-198)_(207+1_208-1)del
r.0?
p.0?
Unknown
-
NA
g.(?_37034841)_(37038201_37042445)del
-
Deletion of Exon 1-2
-
MLH1_001607
Identified in DU145 cell line.
PubMed: Bertholon 2006
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
_1_3i
c.(?_-198)_(306+1_307-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37042545_37045891)del
-
-
-
MLH1_000946
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_3i
c.(?_-198)_(306+1_307-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37042545_37045891)del
-
Deletion of Exon 1-3
-
MLH1_000946
-
PubMed: Spaepen 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_3i
c.(?_-198)_(306+1_307-1)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_37034841)_(37042545_37045891)del
-
Deletion of Exon 1-3
-
MLH1_000946
-
PubMed: Spaepen 2006 Genuardi (unpublished)
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
HNPCC
-
-
-
M
-
Italy
white
-
-
additional info and pedigree
-
1
Maurizio Genuardi
+/.
_1_3i
c.(?_-198)_(306+1_307-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37042545_37045891)del
-
(?-198)_306+?del/Del exon 1-3
-
MLH1_000946
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
+/.
-
c.(?_-198)_(306+1_307-1)del
r.spl?
p.?
Unknown
-
pathogenic
g.(?_37034841)_(37042545_37045891)del
-
deletions of exons 1–3
-
MLH1_000946
-
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Challis 2016
54-year-old female with a history of ovarian and colorectal malignancy was found to have an ACC; family history revealed her mother had died of ACC and her sister had previously been diagnosed with endometrial and colorectal cancers.
F
-
-
-
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1-3
c.(?_-198)_(306+1_307-1)del
r.?
p.?
Maternal (inferred)
-
pathogenic
g.(?_37034841)_(37042545_37045891)del
-
c.1_306del
-
MLH1_000946
Insight class: 5
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
HNPCC
-
-
-
M
-
Russian Federation
Russian
-
-
-
-
1
Grigorij Yanus
+/.
-
c.(?_-198)_306+?del
r.(?)
p.?
Unknown
-
pathogenic
g.37034841_37042544del
-
1-?_306+?del Deletion exons 13
-
MLH1_002063
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Lagerstedt-Robinson 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
PubMed: Lagerstedt-Robinson 2016
-
-
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
+/.
-
c.(?_-198)_306+?del
r.(?)
p.?
Unknown
-
pathogenic
g.37034841_37042544del
-
1-?_306+?del Deletion exons 13
-
MLH1_002063
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Lagerstedt-Robinson 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
PubMed: Lagerstedt-Robinson 2016
-
-
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
+/.
-
c.(?_-198)_306+?del
r.(?)
p.?
Unknown
-
pathogenic
g.37034841_37042544del
-
1-?_306+?del Deletion exons 13
-
MLH1_002063
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Lagerstedt-Robinson 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
PubMed: Lagerstedt-Robinson 2016
-
-
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
+/+
_1_4i
c.(?_-198)_(380+1_381-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37045966_37048481)del
-
-
-
MLH1_001570
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_4i
c.(?_-198)_(380+1_381-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37045966_37048481)del
-
1-?_388+?del (Del ex01-04 (80 Kb del))
-
MLH1_001570
Variant Allele: Maternal Inferred
José Luis Soto
-
-
Germline
-
-
-
-
-
DNA
MLPA, arrayCGH
-
-
CRC
-
-
-
F
-
-
-
-
-
-
-
1
INSiGHT group
+/+
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37050397_37053310)del
-
-
-
MLH1_001724
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37050397_37053310)del
-
Deletion of Exon 1-6
-
MLH1_001724
-
PubMed: Taylor 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37050397_37053310)del
-
MLH1 exon 1-6 del phase unknown
-
MLH1_001724
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
Mark Jenkins
?/.
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37050397_37053310)del
-
Exon 1 to Exon 6 1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9)
-
MLH1_001724
-
Desiree du Sart
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37050397_37053310)del
-
Exon 1 to Exon 6 1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9)
-
MLH1_001724
-
Desiree du Sart
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_6i
c.(?_-198)_(545+1_546-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37050397_37053310)del
-
-
-
MLH1_001724
MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis)
Mark Jenkins
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/+
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
-
-
MLH1_000949
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
Deletion E1-10
-
MLH1_000949
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
Deletion E1-10
-
MLH1_000949
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
Deletion E1-10
-
MLH1_000949
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
Deletion E1-10
-
MLH1_000949
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(?_37034841)_(37059091_37061800)del
-
ex01_ex10del
-
MLH1_000949
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC
-
-
-
?
-
Germany
-
-
-
-
-
1
Beate Dr. Betz
?/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37059091_37061800)del
-
Deletion of Exon 1-10
-
MLH1_000949
-
PubMed: Wang 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37059091_37061800)del
-
Deletion of Exon 1-10
-
MLH1_000949
-
PubMed: Wang 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37059091_37061800)del
-
Deletion of Exon 1-10
-
MLH1_000949
-
PubMed: Grabowski 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37059091_37061800)del
-
Deletion of Exon 1-10
-
MLH1_000949
-
PubMed: Mangold 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_10i
c.(?_-198)_(884+1_885-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37059091_37061800)del
-
Deletion of Exon 1-10
-
MLH1_000949
-
PubMed: Mangold 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
_1_11i
c.(?_-198)_(1038+1_1039-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37061955_37067127)del
-
-
-
MLH1_001667
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_11i
c.(?_-198)_(1038+1_1039-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37061955_37067127)del
-
Exon 1 to Exon 11 (1-?_1038+?del)
-
MLH1_001667
-
Desiree du Sart
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/+
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37070424_37081676)del
-
-
-
MLH1_000013
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Parent #2
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
Deletion of Exon 1-13
-
MLH1_000013
-
PubMed: Wagner 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
del Ex1-13
-
MLH1_000013
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: van der Klift, H.2005
-
?
-
United States
-
-
-
-
-
1
Juul Wijnen
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
Deletion of Exon 1-13
-
MLH1_000013
-
PubMed: Baudhuin 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
Deletion of Exon 1-13
-
MLH1_000013
-
PubMed: Vaughn 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
Exon 1 to Exon 13 1-?_1588+?del p.Met1Phefs*15 (reported as p.Met1_Val520>Phefs*15)
-
MLH1_000013
-
Desiree du Sart
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
(?_-198)_1558+?del
-
MLH1_000013
-
Robert HaileTherese Teitsch
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
(?_-198)_1558+?del
-
MLH1_000013
-
Robert HaileTherese Teitsch
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
2 families, 4 affected carriers & 3 affected carriers
-
-
-
-
-
-
-
-
1
INSiGHT group
?/.
_1_13i
c.(?_-198)_(1558+1_1559-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37070424_37081676)del
-
(?_-198)_1558+?del
-
MLH1_000013
-
Polly Newcomb and John Potter
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/+
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37083823_37089009)del
-
-
-
MLH1_001614
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Parent #1
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
Deletion of Exon 1-15
-
MLH1_001614
-
PubMed: Pistorius 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
Deletion of Exon 1-15
-
MLH1_001614
-
PubMed: Nilbert 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
Deletion of Exon 1-15
-
MLH1_001614
-
PubMed: Mangold 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
Deletion of Exon 1-15
-
MLH1_001614
-
PubMed: Lagerstedt Robinson 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
Deletion of Exon 1-15
-
MLH1_001614
-
PubMed: Staaf 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_37034841)_(37083823_37089009)del
-
del ex1-15
-
MLH1_001614
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
CRC
-
-
-
M
-
Sweden
white
-
-
-
-
1
Kristina Lagerstedt Robinson
?/.
_1_15i
c.(?_-198)_(1731+1_1732-1)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37083823_37089009)del
-
(?_-198)_1731+?del
-
MLH1_001614
-
Kristina Lagerstedt Robinson ,PubMed: Lagerstedt Robinson 2007 ,PubMed: Nilbert 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/.
-
c.(?_-198)_1731+?del
r.(?)
p.?
Unknown
-
pathogenic
g.37034841_37083822del
-
1-?_1731+?del Deletion exons 115
-
MLH1_002064
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Lagerstedt Robinson 2007 , PubMed: Lagerstedt-Robinson 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
PubMed: Lagerstedt Robinson 2007 , PubMed: Lagerstedt-Robinson 2016
-
-
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
+/+
_1_19_
c.(?_-198)_(*193_?)del
r.0?
p.0?
Unknown
InSiGHT
pathogenic
g.(?_37034841)_(37092337_?)del
-
-
-
MLH1_001571
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_19_
c.(?_-198)_(*193_?)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(?_37034841)_(37092337_?)del
-
-
-
MLH1_001571
part or all of the MLH1 gene missing
PubMed: Zidan 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
_1_19_
c.(?_-198)_(*193_?)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37092337_?)del
-
del Ex1-19, >57kb
-
MLH1_001571
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: van der Klift, H.2005
-
?
-
Netherlands
-
-
-
-
-
1
Juul Wijnen
?/.
_1_19_
c.(?_-198)_(*193_?)del
r.0?
p.0?
Unknown
-
VUS
g.(?_37034841)_(37092337_?)del
-
Deletion of MLH1
-
MLH1_001571
-
PubMed: Salahshor 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods