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.
Reference : Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender : The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin : The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Ethnic origin : The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks : Remarks about the individual.
Pedigree information available : Pedigree information available
All options:
Family History : Amsterdam (I, II, no, ?), Bethesda (yes, no, ?) or summary of family history
Selection criteria for proband testing : Family history, MSI, IHC
Variants in genes : The individual has variants for this gene.
Panel size : Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
Individual ID
Reference
Gender
Geographic origin
Ethnic origin
Remarks
Pedigree information available
Family History
Selection criteria for proband testing
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00002041
InSiGHT Variant Interpretation Committee April 2016
-
-
-
72 y Polyposis left Colon
-
-
-
polyposis
-
MSH2
MSH2
1
1
Elke Holinski-Feder
00002683
-
-
-
-
InSiGHT LOVDv2 ID:1013056; This data has been transferred from InSiGHT LOVDv2 database.
-
-
-
polyposis
-
MSH6
MSH6
1
1
Ans van den Ouweland
00003666
-
-
India
Asian
-
-
-
-
CRC, polyposis
-
APC
APC
1
1
Rajiv Sarin
00003667
-
F
India
Asian
-
-
-
-
CRC, FAP-1, polyposis
-
APC
APC
1
1
Rajiv Sarin
00003668
-
F
India
Asian
-
-
history of polyposis, CRC and extracolonic manifestations in multiple members of family over three generations
-
CRC, FAP-1, polyposis
-
APC
APC
1
1
Rajiv Sarin
00003671
-
-
India
Asian
-
-
-
-
CRC, polyposis
-
APC
APC
1
1
Rajiv Sarin
00003777
-
M
Spain
Caucasian
-
-
None
Attenuated polyposis
polyposis
-
APC, MUTYH
APC, MUTYH
2
1
Esther Sarasola
00003916
-
M
-
-
-
-
-
-
polyposis
Attenuated polyposis
APC, MUTYH
APC
1
1
Esther Sarasola
00022631
-
M
-
-
Last known age healthy/unknown disease: 55;InSiGHT LOVDv2 ID:1016685;
-
Multiple polyposis
-
polyposis
multiple polyposis (11, mostly TVAs). Last known age 55y
MLH1
MLH1
1
1
InSiGHT group
00022634
-
F
-
-
Last known age healthy/unknown disease: 62;InSiGHT LOVDv2 ID:1016688;
-
Familial multiple polyposis
-
polyposis
multiple polyposis (about 10); MLH1+ (on adenoma) MSH2+ (on adenoma) MSH6+ (on adenoma) Last known age: 62y
MLH1
MLH1
2
1
InSiGHT group
00028509
-
F
-
-
-
-
no family history of polyposis
-
polyposis
individual with >50 adenomatous polyps
APC
APC
3
1
Michele Ciavarella
00028510
-
M
-
-
-
-
no family history of polyposis
-
polyposis
Individual with >20 adenomatous polypos
APC
APC
1
1
Michele Ciavarella
00028511
-
M
-
-
-
-
no family history of polyposis
-
polyposis
individual with >100 polypos
APC
APC
2
1
Michele Ciavarella
00028512
-
M
-
-
-
-
none
-
polyposis, neoplasia, colorectal, early onset
individual with >20 polyps, Proctocolectomy; 2 synchronous adenocarcinomas
APC
APC
1
1
Michele Ciavarella
00028513
-
M
-
-
-
-
none
-
polyposis, neoplasia, colorectal, early onset
individual with >50 polyps, Proctocolectomy; 2 synchronous adenocarcinomas
APC
APC
1
1
Michele Ciavarella
00028514
-
M
-
-
-
-
none
-
polyposis, cancer
individual with >50 polyps, Urothelial Cancer
APC
APC
1
1
Michele Ciavarella
00028515
-
F
-
-
-
-
no family history of polyposis
-
polyposis
individual with >150 adenomatous polyps
APC
APC
2
1
Michele Ciavarella
00028516
-
F
-
-
-
Yes
-
-
polyposis
sporadic attenuated adenomatous polyposis
APC
APC
1
4
Michele Ciavarella
00028539
-
-
SPAIN
CAUCASIAN
-
Yes
-
-
polyposis
-
APC, MUTYH
APC
1
1
sira moreno
00028551
-
F
Netherlands
-
-
-
Family: her son 1 adenoma at 40yrs; her mother sigmoidcarc; mother had many sibs (>10) , and several of them had cancer at a relative young age. None of them were tested for the variant.
-
polyposis, neoplasia, colorectal
3xCRC in situ, >50 small polyps (serrated, adenomatous and hyperplastic). 1 CRC tested MSI H, with MLH1 methylation. Others not tested.
Multiple polyps (>50 some sessile, some adenoma,some hyperplastic, some serrated ).
APC, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, POLD1, STK11
MLH1
1
1
Carli Tops
00029947
-
M
Netherlands
-
among 170 APC negative Dutch FAP patients
-
-
colorectal symptoms
polyposis
>15 polyps; no colon cancer ; no esophago-gastro-duodenoscopy; uncertain duodenal phenotype
APC
APC
1
1
Carli Tops
00032071
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional tooth; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 15y; (duodenal polyps (?HP:0004783))
APC
APC
1
1
Maurizio Genuardi
00032072
-
F
Italy
-
-
-
-
-
polyposis
?
APC
APC
1
1
Maurizio Genuardi
00032073
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 29y, rectum; colectomy 10y; (duodenal polyps (?HP:0004783))
APC
APC
1
1
Maurizio Genuardi
00032074
-
F
Italy
-
-
Yes
-
colorectal symptoms
polyposis
no additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 32y
APC
APC
1
1
Maurizio Genuardi
00032075
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
no additional phenotype data available; colorectal phenotype classical, ? nr polyps
APC
APC
1
1
Maurizio Genuardi
00032076
-
M
Italy
-
parents were healthy and they were 80 years old
Yes
-
colorectal symptoms
polyposis
no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 52y; colectomy 52y
APC
APC
1
1
Maurizio Genuardi
00032077
-
M
Italy
-
-
-
-
call (screening)
polyposis
colorectal phenotype classical, ? nr polyps; colectomy 39y; esophago-gastro-duodenoscopy age 39y; no duodenal phenotyp
APC
APC
1
1
Maurizio Genuardi
00032078
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp
APC
APC
1
1
Maurizio Genuardi
00032079
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp
APC
APC
1
1
Maurizio Genuardi
00032080
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical 184 polyps; colectomy 19y; esophago-gastro-duodenoscopy age 20y; no duodenal phenotyp
APC
APC
1
1
Maurizio Genuardi
00032081
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; esophago-gastro-duodenoscopy age 38y; duodenal phenotype
APC
APC
1
1
Maurizio Genuardi
00032082
-
F
Italy
-
-
Yes
-
by chance
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 23y
APC
APC
1
1
Maurizio Genuardi
00032083
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available
APC
APC
1
1
Maurizio Genuardi
00032084
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 18y; duodenal phenotype
APC
APC
1
1
Maurizio Genuardi
00032085
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
no additional phenotype data available
APC
APC
1
1
Maurizio Genuardi
00032086
-
F
Italy
-
-
Yes
-
-
polyposis
no additional phenotype data available; colorectal phenotype atypical, ? nr polyps; colon cancer 56y, rectum-sigma
APC
APC
1
1
Maurizio Genuardi
00032087
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 36y
APC
APC
1
1
Maurizio Genuardi
00032088
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available
APC
APC
1
1
Maurizio Genuardi
00032089
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 15y
APC
APC
1
1
Maurizio Genuardi
00032090
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
-
APC
APC
1
1
Maurizio Genuardi
00032091
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
; colorectal phenotype attenuated, ? nr polyps; colectomy 64y
APC
APC
1
1
Maurizio Genuardi
00032092
-
-
Italy
-
-
Yes
-
call (screening)
polyposis
; colorectal phenotype attenuated 5 polyps
APC
APC
1
1
Maurizio Genuardi
00032093
-
F
Italy
-
-
-
-
call (screening)
polyposis
colorectal phenotype attenuated 5 polyps
APC
APC
1
1
Maurizio Genuardi
00032094
-
M
Italy
-
-
-
-
call (screening)
polyposis
colorectal phenotype classical 60 polyps; colectomy 19y
APC
APC
1
1
Maurizio Genuardi
00032095
-
F
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype attenuated 70 polyps; colectomy 32y
APC
APC
1
1
Maurizio Genuardi
00032096
-
M
Italy
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 14y
APC
APC
1
1
Maurizio Genuardi
00032097
-
F
Italy
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype classical, ? nr polyps
APC
APC
1
1
Maurizio Genuardi
00032098
-
M
Italy
-
-
No
-
-
polyposis
no additional phenotype data available
APC
APC
1
1
Maurizio Genuardi
00032099
-
F
Italy
-
-
-
-
-
polyposis
colorectal phenotype classical, ? nr polyps
APC
APC
1
1
Maurizio Genuardi
00032105
-
F
Kuwait
Arab
sister had colon cancer at age 39y, father had colon cancer at age 42y, sister had partial colectomy at age 35y because of polyposis coli extra canine in 4 other members
Yes
-
colorectal symptoms
polyposis
1 extra canine on right side; colorectal phenotype severe, hundreds polyps colon; colon cancer 40.5y, sigmoid colon; colectomy 41y
APC
APC
1
1
Makia Marafie
00032106
-
F
Kuwait
Arab
-
Yes
-
colorectal symptoms
polyposis
no additional phenotype data available; colorectal phenotype severe, hundreds polyps colon; colectomy 20y
APC
APC
1
1
Makia Marafie
00032109
-
F
Switzerland
-
-
Yes
-
colorectal symptoms
polyposis
no additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 38y, Rectum
APC
APC
1
1
Karl Heinimann
00032110
-
M
Switzerland
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 40y, Rectum
APC
APC
1
1
Karl Heinimann
00032857
-
F
(Venezuela)
-
Mutation detected in gen APC heterozygous c 1393dupG, p.A465fs, Exon 10, Novel mutation, symptomatic. Test code 6087 in the Baylor college of medicina
No
-
colorectal symptoms
polyposis
supernumerary teeth, lipomas; colorectal phenotype classical, 100 polyps colon, small intestine and rectum; colon cancer adenoma tubular, jejunum proximal, sigma, rectum; polypectomy 24y; no duodenal phenotyp
APC
APC
1
1
Maria Alejandra Ortiz
00032860
-
F
Germany
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 48y; duodenal phenotypenormal
APC
APC
1
1
Stefan Aretz
00032861
-
M
Germany
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype attenuated, 51-100 polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 55y; duodenal phenotypenormal
APC
APC
1
1
Stefan Aretz
00032862
-
F
Germany
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype atypical, 100-500 polyps entire colon; no colon cancer ; IPAA ; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp
APC
APC
1
1
Stefan Aretz
00032863
-
F
Germany
-
-
Yes
-
call (screening)
polyposis
additional phenotype data available; colorectal phenotype attenuated, 21-50 polyps entire colon; no colon cancer ; colectomy 67y IRA; esophago-gastro-duodenoscopy age 72y; uncertain duodenal phenotype
APC
APC
1
1
Stefan Aretz
00032864
-
M
Germany
-
-
Yes
-
-
polyposis
additional phenotype data available; colorectal phenotype attenuated 51-100 polyps
APC
APC
1
1
Stefan Aretz
00032865
-
M
Germany
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype classical numerous polps
APC
APC
1
1
Stefan Aretz
00032866
-
M
Germany
-
-
Yes
-
by chance
polyposis
additional phenotype data available; colorectal phenotype classical, 500-1000 polyps entire colon; colectomy 31y IPAA
APC
APC
1
1
Stefan Aretz
00032867
-
M
Germany
-
-
Yes
-
colorectal symptoms
polyposis
additional phenotype data available; colorectal phenotype classical, 100-500 polyps entire colon; no colon cancer ; colectomy 24y IPAA; esophago-gastro-duodenoscopy age 23y; duodenal phenotypenormal
APC
APC
1
1
Stefan Aretz
00032868
-
F
United States
African American
-
Yes
-
call (screening)
polyposis
no additional phenotype data available; colorectal phenotype attenuated, polyps 54+ resected polyps; path: 29 adenomatous; no colon cancer ; esophago-gastro-duodenoscopy; (duodenal polyps (?HP:0004783))
APC
APC
1
1
Kathryn Mraz
00033549
Gemeinschaftspraxis für Humangenetik Dresden, submitted
-
-
-
-
-
-
-
polyposis
-
APC
APC
1
1
LOVD_Shared
00033633
-
M
-
-
-
-
-
-
polyposis
polyposis; colorectal phenotype attenuated
APC
APC
1
1
sira moreno
00033634
-
F
Spain
-
-
Yes
-
-
polyposis
polyposis; cause diagnosis colorectal symptoms; 27 polyps
APC
APC
1
1
sira moreno
00033636
-
M
(Spain)
-
-
-
-
-
polyposis
polyposis; cause diagnosis colorectal symptoms; 25 polyps; ; 57y-colon cancer;; colorectal phenotype attenuated
APC
APC
1
1
sira moreno
00033638
-
F
Germany
german
-
Yes
-
-
polyposis
polyposis; cause diagnosis colorectal symptoms; 100 polyps; adenoma complete colon; uncertain; colorectal phenotype attenuated
APC
APC
1
1
Elke Holinski-Feder
00033646
-
-
India
Asian
-
-
-
-
CRC, polyposis
-
APC
APC
1
1
Rajiv Sarin
00034124
-
M
-
-
-
No
-
-
cancer, colon, polyposis
-
MUTYH
MUTYH
2
1
Esther Sarasola
00034833
Lipton 2003
-
(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Carli Tops
00034973
Küry 2007
-
France
white
1/1023 excluded as sporadic CRC case because of familial MAP phenotype
-
-
-
polyposis
-
MUTYH
MUTYH
2
1
Astrid Out
00035507
Redeker (unpublished); AMC, Amsterdam, NL
M
Netherlands
-
-
-
-
-
polyposis
colorectal phenotype attennuated
MUTYH
MUTYH
1
1
Bert Redeker
00035508
Redeker (unpublished); AMC, Amsterdam, NL
M
Morocco
Morocco
-
-
-
-
polyposis
-
MUTYH
MUTYH
2
1
Bert Redeker
00035509
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
-
-
-
-
polyposis
colorectal phenotype attennuated
MUTYH
MUTYH
3
1
Mette Gaustadnes
00035511
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
2
1
Mette Gaustadnes
00035516
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Turkey
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
2
1
Mette Gaustadnes
00035533
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230
-
-
-
polyposis
-
MUTYH
MUTYH
1
6
Mette Gaustadnes
00035534
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230
-
-
-
polyposis
-
MUTYH
MUTYH
1
13
Mette Gaustadnes
00035536
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230
-
-
-
polyposis
-
MUTYH
MUTYH
2
4
Mette Gaustadnes
00035537
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230
-
-
-
polyposis
-
MUTYH
MUTYH
3
1
Mette Gaustadnes
00035538
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
5/115 polyposis and/or CRC patients homozygous for c.1014G>C; minor allele frequency: 44/230
-
-
-
polyposis
-
MUTYH
MUTYH
2
5
Mette Gaustadnes
00035539
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
Denmark
-
24/115 polyposis and/or CRC patients heterozygous for c.1014G>C; minor allele frequency: 44/230
-
-
-
polyposis
-
MUTYH
MUTYH
1
24
Mette Gaustadnes
00035542
Medical Genetics, UZ Gent, Gent, BE
M
Belgium
-
tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene
-
-
-
polyposis
CC criteria B+; total colectomy; diagnosis: colorectal symptoms; colorectal phenotype classical
MUTYH
MUTYH
2
1
Kathleen Claes
00035549
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
M
(Sweden)
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Kristina Lagerstedt Robinson
00035554
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
F
-
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Kristina Lagerstedt Robinson
00035556
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
F
Sweden
white
-
-
-
-
polyposis
colorectal phenotype attennuated
MUTYH
MUTYH
1
1
Kristina Lagerstedt Robinson
00035559
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
M
Sweden
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Kristina Lagerstedt Robinson
00035560
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
F
Sweden
-
-
-
-
-
polyposis
-
MUTYH
MUTYH
2
1
Kristina Lagerstedt Robinson
00035680
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035681
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035682
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035683
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035684
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
2
Stefan Aretz
00035685
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035686
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
3
Stefan Aretz
00035687
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035688
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz
00035689
Aretz 2006
-
(Germany)
-
allele frequency among 329 polyposis patients
-
-
-
polyposis
-
MUTYH
MUTYH
1
1
Stefan Aretz