Global Variome shared LOVD
SNRNP200 (small nuclear ribonucleoprotein 200kDa (U5))
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Global Variome, with Curator vacancy
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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.
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
arrayMET = array for methylation analysis
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 = single 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.
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all entries containing 'Arg'
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!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
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Ser)$
all entries ending with 'Ser)'
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all entries with this field empty
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!=""
all entries with this field not empty
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!="p.0"
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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
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Numeric
<23
all entries lower than 23
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Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
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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:
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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270 entries on 3 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000033163
00033095
DNA
SEQ;SEQ-NG-S
-
-
5
Kornelia Neveling
0000033173
00033105
DNA
SEQ;SEQ-NG-S
-
-
6
Kornelia Neveling
0000033184
00033116
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033186
00033118
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033187
00033119
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033191
00033123
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033193
00033125
DNA
SEQ;SEQ-NG-S
-
-
4
Kornelia Neveling
0000033213
00033145
DNA
SEQ;SEQ-NG-S
-
-
2
Kornelia Neveling
0000033746
00033678
DNA
SEQ
-
-
1
Marta de Castro-MirĂ³
0000233403
00232304
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233404
00232305
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233405
00232306
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233406
00232307
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233407
00232308
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233408
00232309
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233409
00232310
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233410
00232311
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233411
00232312
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233412
00232313
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233413
00232314
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233414
00232315
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233415
00232316
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233416
00232317
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233417
00232318
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233418
00232319
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233419
00232320
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233420
00232321
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233421
00232322
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233422
00232323
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233423
00232324
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000233424
00232325
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000310570
00309425
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000326736
00325525
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000329228
00328013
DNA
SEQ-NG
-
WGS
1
LOVD
0000329634
00328420
DNA
SEQ-NG
-
WES
1
LOVD
0000329650
00328436
DNA
SEQ-NG
-
WES
1
LOVD
0000333477
00332257
DNA
SEQ-NG
-
WES
1
LOVD
0000334580
00333355
DNA
SEQ-NG
-
132-gene panel
6
LOVD
0000334842
00333616
DNA
SEQ-NG
-
-
1
LOVD
0000335085
00333859
DNA
SEQ-NG
-
-
1
LOVD
0000335658
00334429
DNA
SEQ-NG
-
WES
2
LOVD
0000335669
00334440
DNA
SEQ-NG
-
WES
1
LOVD
0000336792
00335564
DNA
arraySNP;SEQ
-
-
1
LOVD
0000336793
00335565
DNA
arraySNP;SEQ
-
-
1
LOVD
0000336794
00335566
DNA
SEQ-NG
-
-
1
LOVD
0000336960
00335731
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336967
00335738
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336968
00335739
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336969
00335740
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336970
00335741
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336971
00335742
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000336972
00335743
DNA
SEQ-NG
-
31-gene panel
1
LOVD
0000363302
00362073
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000364643
00363415
DNA
SEQ
-
gene panel
1
LOVD
0000364644
00363416
DNA
SEQ
-
gene panel
1
LOVD
0000364645
00363417
DNA
SEQ
-
gene panel
1
LOVD
0000364646
00363418
DNA
SEQ
-
gene panel
1
LOVD
0000364869
00363641
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364908
00363680
DNA
SEQ-NG
-
gene panel
1
LOVD
0000374718
00373483
DNA
SEQ-NG
-
73-gene panel
1
LOVD
0000374719
00373484
DNA
SEQ-NG
-
73-gene panel
1
LOVD
0000375093
00373861
DNA
SEQ-NG
-
86-gene panel
1
LOVD
0000375157
00373925
DNA
SEQ-NG
-
238-gene panel
1
LOVD
0000376486
00375289
DNA
SEQ-NG
-
193-gene panel
1
LOVD
0000376487
00375290
DNA
SEQ-NG
-
193-gene panel
1
LOVD
0000376541
00375344
DNA
SEQ-NG
-
193-gene panel
1
LOVD
0000376646
00375449
DNA
SEQ-NG
-
179-gene panel
1
LOVD
0000376647
00375450
DNA
SEQ-NG
-
179-gene panel
1
LOVD
0000378683
00377480
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000378684
00377481
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000378685
00377482
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000378686
00377483
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000378687
00377484
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000378688
00377485
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
1
LOVD
0000380632
00379432
DNA
SEQ
blood
WES
1
LOVD
0000380651
00379451
DNA
SEQ
blood
WES
1
LOVD
0000381097
00379895
DNA
SEQ-NG
-
panel of 441 hereditary eye disease genes including 291 genes related to IRD
1
LOVD
0000382065
00380851
DNA
SEQ-NG
-
-
1
LOVD
0000382066
00380852
DNA
SEQ-NG
-
-
1
LOVD
0000382067
00380853
DNA
SEQ-NG
-
-
1
LOVD
0000382456
00381241
DNA
SEQ-NG
blood
-
1
Martin Zenker, Prof. Dr. med.
0000382892
00381676
DNA
SEQ-NG-I;SEQ-NG-R;SEQ
blood
-
1
LOVD
0000382921
00381705
DNA
PCR;SEQ-NG
blood or a saliva sample
-
1
LOVD
0000383035
00381819
DNA
PCR;SEQ-NG
blood or a saliva sample
-
1
LOVD
0000383124
00381908
DNA
SEQ-NG
blood
-
1
LOVD
0000383125
00381909
DNA
SEQ-NG
blood
-
1
LOVD
0000383126
00381910
DNA
SEQ-NG
blood
-
1
LOVD
0000383653
00382439
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
1
LOVD
0000383818
00382604
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
1
LOVD
0000385524
00384299
DNA
SEQ-NG
blood
panel of 126 genes
1
LOVD
0000385649
00384424
DNA
SEQ-NG
blood
panel of 126 genes
1
LOVD
0000386283
00385054
DNA
SEQ-NG
-
targeted next-generation sequencing
1
LOVD
0000386850
00385621
DNA
arraySNP
-
RD-xip
3
LOVD
0000387838
00386610
DNA
SEQ-NG-I;SEQ
blood
-
1
LOVD
0000387875
00386647
DNA
SEQ-NG-I;SEQ
blood
-
1
LOVD
0000387884
00386656
DNA
SEQ-NG-I;SEQ
blood
-
1
LOVD
0000387898
00386670
DNA
SEQ-NG-I;SEQ
blood
-
2
LOVD
0000388022
00386794
DNA
SEQ-NG-I;SEQ
blood
-
1
LOVD
0000388147
00386919
DNA
SEQ-NG;SEQ
blood
-
2
LOVD
0000388255
00387029
DNA
SEQ-NG
blood
targeted sequencing
1
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