All screenings for gene MUTYH

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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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

1990 entries on 20 pages. Showing entries 1 - 100.

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Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000002932	00003026	DNA	SEQ	-	-	2	Marcel Nelen
0000003206	00003287	DNA	SEQ-NG-I	-	-	1	Christopher Watson
0000015983	00016067	DNA	SEQ	leukocytes	screen APC gene (index patient)	1	Stefan Aretz
0000015994	00016078	DNA	SEQ	leukocytes	screen APC gene (index patient)	1	Stefan Aretz
0000036365	00036295	DNA	SEQ	-	-	1	Andreas Laner
0000036366	00036296	DNA	SEQ	-	-	1	Andreas Laner
0000036367	00036297	DNA	SEQ	-	-	1	Andreas Laner
0000036368	00036298	DNA	SEQ	-	-	1	Andreas Laner
0000036369	00036299	DNA	SEQ	-	-	1	Andreas Laner
0000036370	00036300	DNA	SEQ	-	-	1	Andreas Laner
0000036371	00036301	DNA	SEQ	-	-	1	Andreas Laner
0000039015	00038780	DNA	SEQ	-	-	1	Johan den Dunnen
0000039016	00038781	DNA	SEQ	-	-	1	Johan den Dunnen
0000039017	00038782	DNA	SEQ	-	-	1	Johan den Dunnen
0000047989	00047863	DNA	SEQ	-	-	3	James Whitworth
0000107059	00106589	DNA	SEQ-NG	-	fenner-team	1	Friederike Hein
0000108616	00108148	DNA	SEQ-NG-I	-	screening date 2016-02-02	1	Giulia Martina Cavestro, M.D., Ph.D.
0000108651	00108183	DNA	SEQ-NG-I;PCRm	-	screening date 2017-02-23	1	Esther Sarasola
0000108652	00108184	DNA	SEQ-NG;PCRm	-	-	1	Esther Sarasola
0000134095	00133260	DNA	MCA;PCR;SEQ	-	-	2	Grigorij Yanus
0000134096	00133261	DNA	MCA;MLPA;PCR;SEQ	Blood	-	2	Grigorij Yanus
0000134097	00133262	DNA	MCA;MLPA-ms;PCR;SEQ	Blood	-	2	Grigorij Yanus
0000165526	00164660	DNA	SEQ	-	-	1	Pilar Mur Molina
0000184583	00183615	DNA	SEQ-NG-I	Peripheral blood	screen date 2018-01-17	2	Aline Martayan
0000184611	00183643	DNA	SEQ-NG-I	-	-	2	Elke Holinski-Feder
0000184614	00183646	DNA	SEQ-NG;PCR	Blood	Multiplicom FAP Mastr kit, screen date 2017-08-22	1	Esther Sarasola
0000189381	00188412	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189382	00188413	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189383	00188414	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189384	00188415	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189385	00188416	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189386	00188417	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189387	00188418	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189388	00188419	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189389	00188420	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189390	00188421	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189391	00188422	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189392	00188423	DNA	SEQ	-	screen data 2012-01-01	1	Robyn Ward
0000189523	00188554	DNA	SEQ-NG-I	-	screen data 2016-10-12	1	Giulia Martina Cavestro, M.D., Ph.D.
0000189604	00188635	DNA	PCR;SEQ	-	screen data 2014-11-12	1	Esther Sarasola
0000189794	00188825	DNA	?	-	-	2	Michael Woods
0000201893	00200923	DNA	SEQ	-	Sanger	1	Tamara Piñero
0000201897	00200927	DNA	SEQ	-	screen data 2017-08-04	1	Carli Tops
0000201898	00200928	DNA	SEQ	-	screen data 2017-01-31	2	InSiGHT - John-Paul Plazzer
0000201910	00200940	DNA	SEQ	-	Genes tested: APC, MUTYH, NTHL1 (hotspot), POLE, POLD1, MLH1, MSH2, MSH6, PMS2.; screen date 2017-09-18	1	Carli Tops
0000202517	00201486	DNA	SEQ-NG	Blood	sequence 14 hereditary colorectal cancer genes, all exons and flanking 10bp were detected and analyzed; variants detected single point mutation, small Indel (within 20bp).; screen date 2018-01-08	1	Massih Bahar
0000202898	00201867	DNA	PCR;SEQ	-	screen data 2018-03-27	2	Esther Sarasola
0000203376	00202345	DNA	SEQ	-	-	1	Astrid Out
0000203377	00202346	DNA	SEQ	-	-	1	Astrid Out
0000203378	00202347	DNA	SEQ	-	-	1	Astrid Out
0000203379	00202348	DNA	SEQ	-	-	1	Astrid Out
0000203380	00202349	DNA	SEQ	-	-	1	Astrid Out
0000203381	00202350	DNA	SEQ	-	-	1	Astrid Out
0000203382	00202351	DNA	SEQ	-	-	1	Astrid Out
0000203383	00202352	DNA	SEQ	-	-	1	Astrid Out
0000203384	00202353	DNA	SEQ	-	-	1	Astrid Out
0000203385	00202354	DNA	SEQ	-	-	1	Astrid Out
0000203386	00202355	DNA	SEQ	-	-	1	Astrid Out
0000203387	00202356	DNA	SEQ	-	-	1	Astrid Out
0000203388	00202357	DNA	SEQ	-	-	1	Astrid Out
0000203389	00202358	DNA	SEQ	-	-	1	Astrid Out
0000203390	00202359	DNA	SEQ	-	-	1	Astrid Out
0000203391	00202360	DNA	SEQ	-	-	2	Astrid Out
0000203392	00202361	DNA	SEQ	-	-	2	Astrid Out
0000203393	00202362	DNA	SEQ	-	-	2	Astrid Out
0000203394	00202363	DNA	SEQ	-	-	2	Astrid Out
0000203395	00202364	DNA	SEQ	-	-	2	Astrid Out
0000203396	00202365	DNA	SEQ	-	-	2	Astrid Out
0000203397	00202366	DNA	SEQ	-	-	1	Astrid Out
0000203398	00202367	DNA	SEQ	-	-	1	Astrid Out
0000203399	00202368	DNA	SEQ	-	-	2	Astrid Out
0000203400	00202369	DNA	SEQ	-	-	2	Astrid Out
0000203401	00202370	DNA	SEQ	-	-	2	Astrid Out
0000203402	00202371	DNA	SEQ	-	-	2	Astrid Out
0000203403	00202372	DNA	SEQ	-	-	1	Astrid Out
0000203404	00202373	DNA	SEQ	-	-	1	Astrid Out
0000203405	00202374	DNA	SEQ	-	-	1	Astrid Out
0000203406	00202375	DNA	SEQ	-	-	1	Astrid Out
0000203407	00202376	DNA	SEQ	-	-	1	Astrid Out
0000203408	00202377	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203409	00202378	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203410	00202379	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203411	00202380	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203412	00202381	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203413	00202382	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203414	00202383	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203415	00202384	DNA	DHPLC;SEQ	leukocyte	ex 1-16 screen MUTYH gene (group)	1	Astrid Out
0000203416	00202385	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203417	00202386	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	1	Astrid Out
0000203418	00202387	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203419	00202388	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203420	00202389	DNA	DHPLC;SEQ	leukocyte	ex 1-16, screen MUTYH gene (index)	2	Astrid Out
0000203421	00202390	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203422	00202391	DNA	PCRdig;SEQ	-	-	2	Astrid Out
0000203423	00202392	DNA	PCRdig;SEQ	-	-	1	Astrid Out
0000203424	00202393	DNA	PCRdig;SEQ	-	-	2	Astrid Out
0000203425	00202394	DNA	PCRdig;SEQ	-	-	2	Astrid Out
0000203426	00202395	DNA	DHPLC;SEQ	-	-	1	Astrid Out
0000203427	00202396	DNA	DHPLC;SEQ	-	-	1	Astrid Out
0000203428	00202397	DNA	DHPLC;SEQ	-	-	2	Astrid Out

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Global Variome shared LOVD

MUTYH (mutY homolog (E. coli))