Global Variome shared LOVD
MKKS (McKusick-Kaufman syndrome)
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All screenings for gene MKKS
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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
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-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
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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.
119 entries on 2 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000060191
00060204
DNA
SEQ-NG-S
-
-
2
María González-del Pozo
0000166105
00165229
DNA
PCR
-
-
1
Sheila Castro-Sánchez
0000277472
00276325
DNA
SEQ-NG-I
Blood
WES and Sanger
1
Evren Gümüş
0000310784
00309639
DNA
SEQ;SEQ-NG
-
gene panel
6
Johan den Dunnen
0000310785
00309640
DNA
SEQ;SEQ-NG
-
gene panel
5
Johan den Dunnen
0000310786
00309641
DNA
SEQ;SEQ-NG
-
gene panel
6
Johan den Dunnen
0000310787
00309642
DNA
SEQ;SEQ-NG
-
gene panel
5
Johan den Dunnen
0000310788
00309643
DNA
SEQ;SEQ-NG
-
gene panel
5
Johan den Dunnen
0000310789
00309644
DNA
SEQ;SEQ-NG
-
gene panel
2
Johan den Dunnen
0000310790
00309645
DNA
SEQ;SEQ-NG
-
gene panel
4
Johan den Dunnen
0000319190
00318008
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000335315
00334089
DNA
SEQ-NG
-
-
2
LOVD
0000335316
00334090
DNA
SEQ-NG
-
-
1
LOVD
0000360037
00358807
DNA
arrayCGH;PCRlr;SEQ-NG
-
-
3
LOVD
0000364875
00363647
DNA
SEQ-NG
-
gene panel
1
LOVD
0000380547
00379347
DNA
SEQ
blood
-
1
LOVD
0000380548
00379348
DNA
SEQ
blood
-
1
LOVD
0000380549
00379349
DNA
SEQ
blood
-
1
LOVD
0000380550
00379350
DNA
SEQ
blood
-
1
LOVD
0000380551
00379351
DNA
SEQ
blood
-
1
LOVD
0000380552
00379352
DNA
SEQ
blood
-
1
LOVD
0000380553
00379353
DNA
SEQ
blood
-
1
LOVD
0000380554
00379354
DNA
SEQ
blood
-
1
LOVD
0000380555
00379355
DNA
SEQ
blood
-
1
LOVD
0000380556
00379356
DNA
SEQ
blood
-
1
LOVD
0000380557
00379357
DNA
SEQ
blood
-
1
LOVD
0000380558
00379358
DNA
SEQ
blood
-
1
LOVD
0000380559
00379359
DNA
SEQ
blood
-
1
LOVD
0000380560
00379360
DNA
SEQ
blood
-
1
LOVD
0000380561
00379361
DNA
SEQ
blood
-
1
LOVD
0000380562
00379362
DNA
SEQ
blood
-
1
LOVD
0000380563
00379363
DNA
SEQ
blood
-
1
LOVD
0000380564
00379364
DNA
SEQ
blood
-
1
LOVD
0000380565
00379365
DNA
SEQ
blood
-
1
LOVD
0000380566
00379366
DNA
SEQ
blood
-
1
LOVD
0000380567
00379367
DNA
SEQ
blood
-
1
LOVD
0000380568
00379368
DNA
SEQ
blood
-
1
LOVD
0000380569
00379369
DNA
SEQ
blood
-
1
LOVD
0000380570
00379370
DNA
SEQ
blood
-
1
LOVD
0000380571
00379371
DNA
SEQ
blood
-
1
LOVD
0000380572
00379372
DNA
SEQ
blood
-
1
LOVD
0000383539
00382325
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
2
LOVD
0000383777
00382563
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
1
LOVD
0000384110
00382894
DNA
SEQ
-
-
2
LOVD
0000384112
00382896
DNA
SEQ
-
-
2
LOVD
0000384305
00383081
DNA
SEQ
blood
-
4
LOVD
0000384337
00383113
DNA
SEQ
blood
-
2
LOVD
0000384338
00383114
DNA
SEQ
blood
-
1
LOVD
0000384339
00383115
DNA
SEQ
blood
-
1
LOVD
0000384340
00383116
DNA
SEQ
blood
-
1
LOVD
0000384357
00383133
DNA;RNA
arraySNP;PCR
blood
-
1
LOVD
0000384373
00383149
DNA;RNA
arraySNP;PCR
blood
-
2
LOVD
0000384378
00383154
DNA;RNA
arraySNP;PCR
blood
-
2
LOVD
0000384462
00383238
DNA
SEQ
blood
ASPER microarray
1
LOVD
0000384463
00383239
DNA
DHPLC;SEQ
blood
-
2
LOVD
0000384464
00383240
DNA
microsat;SEQ
blood
-
1
LOVD
0000384509
00383285
DNA;RNA
DHPLC;arraySNP;RT-PCR
blood
-
2
LOVD
0000384510
00383286
DNA;RNA
DHPLC;arraySNP;RT-PCR
blood
-
3
LOVD
0000384511
00383287
DNA;RNA
DHPLC;arraySNP;RT-PCR
blood
-
1
LOVD
0000384519
00383295
DNA;RNA
DHPLC;arraySNP;RT-PCR
blood
-
2
LOVD
0000384520
00383296
DNA;RNA
DHPLC;arraySNP;RT-PCR
blood
-
3
LOVD
0000384546
00383322
DNA
PE;arraySNP
blood
-
1
LOVD
0000384547
00383323
DNA
PE;arraySNP
blood
-
1
LOVD
0000384569
00383345
DNA
PCR;SEQ;HD
blood
-
1
LOVD
0000384570
00383346
DNA
PCR;SEQ;HD
blood
-
1
LOVD
0000384584
00383360
DNA
PCR;SEQ
blood
-
2
LOVD
0000384585
00383361
DNA
PCR;SEQ
blood
-
1
LOVD
0000384598
00383374
DNA
?
-
-
2
LOVD
0000384888
00383663
DNA
SEQ-NG;SEQ
blood;saliva
panel containing 18 BBS genes
1
LOVD
0000385904
00384678
DNA
SEQ
blood
-
2
LOVD
0000385905
00384679
DNA
SEQ
blood
-
2
LOVD
0000385906
00384680
DNA
SEQ
blood
-
1
LOVD
0000385930
00384704
DNA
SEQ
blood
-
1
LOVD
0000385931
00384705
DNA
SEQ
blood
-
1
LOVD
0000385932
00384706
DNA
SEQ
blood
-
1
LOVD
0000385933
00384707
DNA
SEQ
blood
-
1
LOVD
0000386049
00384823
DNA;RNA
arraySNP;SEQ;RT-PCR
blood
-
3
LOVD
0000386050
00384824
DNA;RNA
arraySNP;SEQ;RT-PCR
blood
-
2
LOVD
0000386053
00384827
DNA;RNA
arraySNP;SEQ;RT-PCR
blood
-
1
LOVD
0000386469
00385240
DNA
arrayCNV;SEQ
blood
-
2
LOVD
0000386476
00385247
DNA
arrayCNV;SEQ
blood
-
1
LOVD
0000386486
00385257
DNA
SEQ
-
-
2
LOVD
0000386514
00385285
DNA
SEQ
-
targeted exon capture strategy
4
LOVD
0000386535
00385306
DNA
PCR
-
-
2
LOVD
0000386575
00385346
DNA
PCR
-
-
1
LOVD
0000386576
00385347
DNA
PCR
-
-
1
LOVD
0000386577
00385348
DNA
PCR
-
-
1
LOVD
0000386578
00385349
DNA
PCR
-
-
1
LOVD
0000386590
00385361
DNA
PCR
-
-
3
LOVD
0000386599
00385370
DNA
PCR
-
-
3
LOVD
0000386828
00385599
DNA
SEQ
-
-
1
LOVD
0000386829
00385600
DNA
HD
-
-
1
LOVD
0000387176
00385948
DNA
SEQ
blood
-
2
LOVD
0000387177
00385949
DNA
SEQ
blood
-
3
LOVD
0000387178
00385950
DNA
SEQ
blood
-
2
LOVD
0000388701
00387475
DNA
SEQ
blood
-
1
LOVD
0000388702
00387476
DNA
SEQ
blood
-
1
LOVD
0000388814
00387588
DNA
SEQ
blood
-
1
LOVD
0000388815
00387589
DNA
SEQ
blood
-
1
LOVD
0000388819
00387593
DNA
SEQ-NG;PCR
blood
-
1
LOVD
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